A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy, A Classic Single Gene Disorder
PMID:28223422
Gene:MYL2
HGNC ID:7583
1,614 Matching Annotations
- Last 7 days
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
PMID: 19293840
Gene: MYH7
HGNC ID: 7577
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ashpublications.org ashpublications.org
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A potential role for α-actinin in inside-out αIIbβ3 signaling
PMID: 20940419
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: No proband or variant information; however, there is potential experimental assay information
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www.sciencedirect.com www.sciencedirect.com
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Inherited traits affecting platelet function
PMID: 18180086
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article gives background information on GT; there is no mention of GT probands with variants in ITGA2B and/or ITGB3
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link.springer.com link.springer.com
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Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy
PMID: 27696190
Gene: ITGA2B
HGNC: 6138
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reader.elsevier.com reader.elsevier.com
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Inhibition of Platelet Aggregation byAbciximab but Not by Aspirin Can BeDetected by a New Point-of-Care Test, the Hemostatus
PMID: 10418797
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence
PreviouslyPublished: The GT patient in this article has been previously published in this PMID: 2180491
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ashpublications.org ashpublications.org
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Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor–independent thrombin generation
PMID: 12411291
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is no evdience; however, there may be potenetial experimental assay information
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Interactionofhumanplateletswithlamininandidentificationofthe67kDalamininreceptoronplatelets
PMID: 1826081
Gene: ITGA2B and ITGB3 (we are noting these gene names even though there is no evidence for GT in this article, because we are curating for these genes-- CThaxton advised it would be a good idea to always note down Genes and HGNC)
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. The studies performed in this article were undertaken to characterize the interaction of platelets with laminin.
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Local file Local file
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Are bone defects in rare patients with Glanzmann’s thrombastheniaassociated withITGB3orITGA2Bmutations?
PMID: 21557682
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature
PMID: 22928124
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article reports a case of acute catastrophic vaginal bleeding in a girl, who was diagnosed with GT and responded to uterine tamponade for acute control of vaginal bleeding; however, no variants in ITGA2B and/or ITGB3 are mentioned in this article therefore we have insufficient evidence
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www.tandfonline.com www.tandfonline.com
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FLOW CYTOMETRIC ANALYSIS OF PLATELET SURFACE GLYCOPROTEINS IN THE DIAGNOSIS OF BERNARD-SOULIER SYNDROME
PMID: 9021812
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
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reader.elsevier.com reader.elsevier.com
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VISUALIZATION OF PLATELET GLYCOPROTEINS Ib AND IIIa BY IMMUNOENZYMATIC STAIN USING AVIDIN-BIOTIN PEROXIDASE COMPLE
PMID: 1788826
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
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watermark.silverchair.com watermark.silverchair.com4712.pdf1
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Truncation of Glycoprotein (GP) IIIa (D616-762) Prevents ComplexFormation With GPIIb: Novel Mutation in Exon 11 of GPIIIaAssociated With Thrombasthenia
PMID: 9845537
Gene: ITGB3
HGNC: 6156
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www.ahajournals.org www.ahajournals.org
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Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia Deborah L. French and Uri SeligsohnFrom the Mount Sinai School of Medicine (D.L.F.), New York, NY, and The Chaim Sheba Medical Center (U.S.), Tel-Hashomer, Israel.
PMID: 10712380
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This review mentions many variants in ITGA2B and ITGB3; however, there are no probands to tie these variants to therefore there is insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia
PMID: 9734640
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend
PMID: 18840725
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is a review discussing the integrin αIIbβ3, there is no mention of probands with variants in ITGA2B and/or ITGB3
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reader.elsevier.com reader.elsevier.com
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Inherited bleeding disorders: disorders of plateletadhesion and aggregation
PMID: 9351872
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT
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www.haematologica.org www.haematologica.org
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A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia
PMID: 18450741
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InusufficientEvidence: This article used a bifunctional bioengineered disintegrin/alkaline phosphatase hybrid protein ErAPv to evaluate 14 consecutive cases of Glanzmann thrombasthenia and 20 normal healthy controls. Thererefore, GT probands are mentioned; however, no specific variants in ITGA2B and/or ITBG3 have been mentioned in these patients
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A Rare Case of Bleeding Disorder: Glanzmann's Thrombasthenia
PMID: 29063905
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case of an individual with Glanzmann thrombasthenia; however, no specific variants mentioned in proband.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
PMID: 24335497
Gene: ITGA2B
HGNC: 6138
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www.jimmunol.org www.jimmunol.org
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Human IgG Monoclonal Anti-αIIbβ3-Binding Fragments Derived from Immunized Donors Using Phage Display
PMID: 11823541
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 1 GT proband; however, variants in ITGA2B and/or ITGB3 are not mentioned.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Iraqi-JewishandArabpopulationsinIsrael
PMID: 2014236
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention specific case reports- rather, this article mentions two different populations harboring variants. I have annotated the 2 variants each cohort harbors
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www.sciencedirect.com www.sciencedirect.com
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Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?
PMID: 28395882
Gene: ITGA2B and ITGB3
HGNC: 6139 and 6156
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia
PMID: 30216638
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions mothers with GT and their newborns. Table 1 shows very general/vague genetic data for the mothers, it is not easy to determine what the actual genetic defects are from Table 1; therefore, there is insufficient evidence
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stke.sciencemag.org stke.sciencemag.org
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Platelets contribute to amyloid-β aggregation in cerebral vessels through integrin αIIbβ3–induced outside-in signaling and clusterin release
PMID: 27221710
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands with variants in ITGA2B or ITGB3
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Local file Local fileuntitled1
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Allogeneic Hematopoietic Stem Cell Transplantation in Glanzmann Thrombasthenia Complicated by Platelet Alloimmunization
PMID: 21567370
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no mention of the proband with variants in ITGA2B and ITGB3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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HomologousRecombinationamongThreeIntrageneAluSequencesCausesanInversion-DeletionResultingintheHereditaryBleedingDisorderGlanzmannThrombasthenia
PMID: 8317479
Gene: ITGB3
HGNC: 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A Two–Amino Acid Insertion in the Cys146–Cys167 Loop of the aIIb Subunit Is Associated with a Variant of Glanzmann Thrombasthenia
PMID: 9739052
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report
PMID: 36052356
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
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www.tandfonline.com www.tandfonline.com
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A novel 196 Leu to Pro substitution in the β3subunit of the αIIbβ3 integrin in a patient with avariant form of Glanzmann thrombasthenia
PMID: 11897046
Gene: ITGB3
HGNC: 6156
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www.jbc.org www.jbc.org
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The Role of Conserved Amino Acid Motifs within theIntegrinb3Cytoplasmic Domain in Triggering FocalAdhesion Kinase Phosphorylation*
PMID: 9065456
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, no specific GT probands are mentioned harboring these variants mentioned therefore there is insufficient evidence
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Qualitative disorders of platelets and megakaryocytes
PMID: 16102044
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions variants in ITGA2B; however, the variants are not linked to individuals bearing them therefore we have insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Platelet and granulocyte alloimmunisation in multitransfused Tunisian patients
PMID: 16104882
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: The purpose of our study was to determine the frequency of alloimmunisation against platelets and leukocytes in multiply transfused Tunisian patients; there are 3 GT probands in this article; however, no mention of variants in ITGA2B and/or ITBG3; therefore, we have insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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A naturally occurring mutation near the C terminus of the β‐propeller of αIIb impair the transport of αIIbβ3 complexes from the endoplasmic reticulum to the Golgi apparatus
PMID: 15946231
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Platelet collagen receptor Glycoprotein VI-dimer recognizesfibrinogen and fibrin through their D-domains, contributing toplatelet adhesion and activation during thrombus formation
PMID: 29210180
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: Article does not mention GT probands with specific variants in ITGA2B and/or ITGB3
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Novel mutations in Thai patients with glanzmann thrombasthenia
PMID: 28888044
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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A 10-Base-Pair Deletion in the Gene Encoding Platelet GlycoproteinIIb Associated with Glanzmann Thrombasthenia in a Horse
PMID: 17338169
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article discusses a 10 base pair deletion in GT; however, in a horse, not human therefore there is insufficient evidence
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watermark.silverchair.com watermark.silverchair.com3212.pdf1
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Molecular Basis for Glanzmann’s Thrombasthenia (GT) in a Compound Heterozygote With Glycoprotein IIb Gene: A Proposal for the Classification of GT Based on the Biosynthetic Pathway of Glycoprotein IIb-IIIa Complex
PMID: 1317725
Gene: ITGA2B
HGNC: 6138
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journals.lww.com journals.lww.com
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Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report
PMID: 20736850
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with GT; however, no variants in ITGA2B or ITGB3 are mentioned
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watermark.silverchair.com watermark.silverchair.com1857.pdf1
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A Point Mutation in the Integrin p3 Cytoplasmic Domain (S752 + P) Impairs Bidirectional Signaling Through aIIbP3 (Platelet Glycoprotein IIb-IIIa)
PMID: 8080992
Gene: ITGB3
HGNC: 6138
InsufficentEvidence: This article mentions a variant in ITGB3; however, the article does not mention a GT case report with the variant in detail, rather this paper cites another paper of a proband harboring the variant of interest
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin β3 gene as a cause of the absence of platelet αIIbβ3 in Glanzmann's thrombasthenia
PMID: 15634267
Gene: ITGB3
HGNC: 6156
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journals.sagepub.com journals.sagepub.com
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Glanzmann'sThrombastheniaProposedOptimalManagementDuringSurgeryandDelivery
PMID: 12812388
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 34 year old proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 in the proband that is mentioned
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
PMID: 16359515
Gene: ITGA2B
HGNC: 6138
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search.proquest.com search.proquest.com
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Successful surgery using recombinant factor VIIa for recurrent, idiopathic nonulcer duodenal bleeding in a patient with Glanzmann's thrombasthenia
PMID: 12353868
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease.
PMID: 24418945
Gene: ITGA2B
HGNC: 6138
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watermark.silverchair.com watermark.silverchair.com
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A second case of variant of Glanzmann'sthrombasthenia due to substitution ofplatelet GPIIIa (integrin (33) Arg214 by Tr
PMID: 7509233
Gene: ITGB3
HGNC: 6156
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www.tandfonline.com www.tandfonline.com
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Glanzmann's thrombasthenia in North Indians: Sub classification and carrier detection by flow cytometry
PMID: 19172516
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with GT; however, there are no variants in ITGA2B and/or ITGB3 mentioned here
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ashpublications.org ashpublications.org
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A Leu262Pro mutation in the integrin β3 subunit results in an αIIb-β3 complex that binds fibrin but not fibrinogen
PMID: 10891446
Gene: ITGB3
HGNC: 6156
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Insertion of a C in the exon 28 of integrin αIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case
PMID: 15748238
Gene: ITGA2B
HGNC: 6138
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www.fertstert.org www.fertstert.org
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Endometriosis in two sisters with Glanzmann's thrombasthenia
PMID: 19647234
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two individuals with GT; however, there is no mention of variants in ITGA2B and/or ITGB3
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watermark.silverchair.com watermark.silverchair.com369.pdf1
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Platelet Glycoprotein IIb-III, (ffIIbp3 Integrin) Confers Fibrinogen- and Ac tiva tion-Dependen t Aggregation on Heterologous Cells
PMID: 2070074
Gene: N/A
HGNC: N/A
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
Note: Although there is no evidence regarding GT probands and variants-- there is some experimental assay evidence, where methods for the experiment may be useful
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann's thrombasthenia and pregnancy: report of a case and literature review
PMID: 22384307
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with GT however there are no variants in ITGA2B or ITGB3 mentioned
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Local file Local file
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Inherited platelet disorders
PMID: 22726100
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This review mentions variants in ITGA2B and ITGB3; however, variants are not tied to specific probands therefore there is insufficient evidence
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Local file Local file
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Inherited platelet disorders and oral health
PMID: 22583386
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants with GT however this has a general summary of Glanzmann thrombasthenia
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pdfs.semanticscholar.org pdfs.semanticscholar.org
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Anovel Ser123Pro substitution in the MIDAS domainof integrin 3 associated with variant
PMID: 15590407
Gene: ITGB3
HGNC: 6156
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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Glanzmann thrombasthenia: An update
PMID: 19854165
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article describes many variants in ITGA2B and ITGB3 however no probands to tie variants to therefore insufficient evidence
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www.jisppd.com www.jisppd.com
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Hematological and surgical management in Glanzmann's thrombasthenia: A case report
PMID: 24739923
Gene: ITGA2B and/or ITGB3 (These genes may be involved since this patient has GT)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an individual with Glanzmann thrombasthenia; however, there are no ITGA2B or ITGB3 variants in this proband
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files.libcom.org files.libcom.org
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Norethisterone therapy for bleeding due to gastrointestinaltelangiectases in Glanzmann’s thrombasthenia
PMID: 9504647
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
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pdfs.semanticscholar.org pdfs.semanticscholar.org45-1.pmd1
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Pyelolithotomy in a patient with Glanzmann thrombasthenia andantiglycoprotein IIb/IIIa antibodies: the shortest possibleduration of treatment with recombinant activated factor VII andplatelet transfusions
PMID: 12718376
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Thus article mentions a Glanzmann thrombasthenia proband; however, no variants in ITGA2B and/or ITGB3 were reported in this patient
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Role of RFLP using TspRI for carrier detection in Glanzmann’s thrombasthenia: a report on two families M. KANNAN Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author B. K. YADAV Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. AHMAD Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. SAXENA Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author
PMID: 19170775
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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DDAVP-induced enhancement of platelet retention: Its dependence on platelet-von Willebrand Factor and the platelet receptor GP IIb/IIIa
PMID: 1499698
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (29 years old); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence. The aim of the present study was to investigate the mechanism by which DDAVP induces increased platelet adhesiveness, as measured in a platelet retention test.
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watermark.silverchair.com watermark.silverchair.com75.pdf1
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Plat el et Vitro nec t in Receptor Exp res s ion Differentiates Iraqi - Jewi s h From Arab Patients With Glanzmann Thrombasthenia in Israel
PMID: 1949709
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article examined platelets of the Iraqi-Jewish and Arab Glanzmann thrombasthenia population; however, no specific proband information or variants in ITGA2B and/or ITGB3 were mentioned. This could be classified as "NoEvidence"; however, due to the fact the article mentioned two specific populations, I have noted it under "InsufficientEvidence"
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia
PMID: 23346430
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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Presentation and Pattern of Symptoms in 382 PatientsWith Glanzmann Thrombasthenia in Iran
PMID: 15389911
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article looks at the presentation and pattern of symptoms in 382 patients with GT. There are no variants associated with probands in ITGA2B and/or ITBG3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Use of rFVIIa in 4 children with Glanzmann thrombasthenia.
PMID: 17023825
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with GT; however, there is no mention of these individuals bearing variants in ITGA2B and/or ITBG3
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www.jstage.jst.go.jp www.jstage.jst.go.jpen1
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Acute Epidural Hematoma in a PatientWith Glanzmann's Thrombasthenia—Case Report—
PMID: 21030808
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 7 year old girl with GT; however, there are no variants in ITGA2B or ITGB3 mentioned in this article
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families
PMID: 21487445
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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Acquired thrombasthenia due to GPIIbIIIaplatelet autoantibodies in a 4-yr-old child
PMID: 15748238
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions proband with acquired thrombasthenia; however, there is no mention of variants in ITGA2B and/or ITGB3
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Local file Local file
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PeriodontalManagementofGlanzmann'sThrombasthenia:Reportof3Cases
PMID: 8866321
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions 3 Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in these individuals; therefore, we have insufficient evidence
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A Glanzmann’s mutation in β3 integrin specifically impairs osteoclast function
PMID: 11342577
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, there is no mention of individual(s) with GT therefore we have insufficient evidence
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reader.elsevier.com reader.elsevier.com
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Hematologically Important Mutations: Glanzmann Thrombasthenia
PMID: 9215749
Gene: ITGA2B and ITGB3
HGNC: 6138 abd 6156
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Local file Local fileuntitled1
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aIIbb3 Integrin: New Allelic Variants in GlanzmannThrombasthenia, Effects onITGA2BandITGB3mRNASplicing, Expression, and Structure–Function
PMID: 20020534
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia
PMID: 22210999
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, it is examined in a horse not human
-
-
europepmc.org europepmc.org
-
Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia
PMID: 21113249
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
link.springer.com link.springer.com
-
Molecular analysis of a patient with type I Glanzmannthrombasthenia and clinical impact of the presenceof anti-aIIbb3 alloantibodies
PMID: 21136216
Gene: ITGB3
HGNC: 6138
-
-
Local file Local file
-
The Level of Laboratory Testing Requiredfor Diagnosis or Exclusion of a PlateletFunction Disorder Using Platelet Aggregationand Secretion Assays
PMID: 19408197
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article provides background information on Glanzmann thrombasthenia; however, does not mention probands or variants in ITGA2B and ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Thrombin generation assays: accruing clinical relevance.
PMID: 15257016
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; however, this may be useful for experimental assay purposes
-
-
Local file Local file
-
DentalConsiderationsforaGlanzmann'sThrombastheniaPatient:CaseReport
PMID: 8724714
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
pdfs.semanticscholar.org pdfs.semanticscholar.org
-
Platelet Fibrinogen and Vitronectin in Glanzmann Thrombasthenia: Evidence Consistent With Specific Roles for Glycoprotein IIb/IIIa and a,P3 Integrins in Platelet Protein Trafficking
PMID: 1726706
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
-
A Ser752fiPro substitution in the cytoplasmic domain ofb3in a Glanzmann thrombasthenia variant fails to preventinteractions between theaIIbb3 integrin and the plateletgranule pool of fibrinogen
PMID: 12199799
Gene: ITGB3
HGNC: 6156
-
-
www.tandfonline.com www.tandfonline.com
-
ITGA2B and ITGB3 gene mutations associated withGlanzmann thrombasthenia
PMID: 29125375
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
NoEvidence This article gives a general overview of Glanzmann thrombasthenia, it does not discuss a proband or variants within probands.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Congenital disorders associated with platelet dysfunctions.
PMID: 18278172
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzamnnt thrombasthenia variants; however, these variants are not tied to individual probands
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Hematuria: An uncommon presentation of Glanzmann's thrombasthenia—Lessons learnt
PMID: 20535297
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case study of a 55 year old male with GT; however, no variants in ITGA2B/ITGB3 are presented here
-
-
www.jbc.org.libproxy.lib.unc.edu www.jbc.org.libproxy.lib.unc.edu
-
Platelet-derived Microparticle Formation Involves Glycoprotein IIb-IIIa
PMID: 8325838
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
PMID: 30792900
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156 respectively as shown above
-
-
Local file Local file
-
First description of an IgM monoclonal antibody causingaIIbb3integrin activation and acquired Glanzmannthrombasthenia associated with macrothrombocytopenia
PMID: 30868743
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
InsufficientEvidence: Article discusses case report; however, no variants were reported in either ITGA2B or ITGB3 among sequencing analysis for proband.
-
-
watermark.silverchair.com watermark.silverchair.com977.pdf1
-
The Molecular Genetic Basis of Glanzmann’s Thrombasthenia in a Gypsy Population in France: Identification of a New Mutation on the &IIb Gene
PMID: 7620188
Gene: ITGA2B
HGNC: 6138
Note: Article mentions, under materials and methods, that the group being studied are two different families (I and II) belonging to the French gypsy community; however, in the results section the article focuses on patient V.17 from Family 1- therefore patient V.17 is annotated as the proband in this article
-
-
www.sciencedirect.com www.sciencedirect.com
-
A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures
PMID: 30078718
Gene: ITGB3
HGNC: 6156
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
PMID: 22103590
Gene: F9
HGNC: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain D. M. Keeling, Oxford Haemophilia Centre, The Churchill Hospital, Oxford,Search for more papers by this authorK. Sukhu, Oxford Haemophilia Centre, The Churchill Hospital, Oxford,Search for more papers by this authorG. Kemball-Cook, Haemostasis Research Group, MRC Clinical Sciences Centre, Hammersmith Hospital, London,Search for more papers by this authorN. Waseem, Division of Medical and Molecular Genetics, Guy's and St Thomas's Medical School, London, U.K.,Search for more papers by this authorR. Bagnall, Division of Medical and Molecular Genetics, Guy's and St Thomas's Medical School, London, U.K.,Search for more papers by this authorJ. V. Lloyd, Haematology Division, Institute of Medical and Veterinary Science, Adelaide, AustraliaSearch for more papers by this author
PMID: 10554831
Gene: F8
HGNCID: 3546
-
-
iopscience.iop.org iopscience.iop.org
-
Fluorinated low-viscosity copolymer with enhanced release property for roll-to-plate UV nanoimprint lithography
PMID: 31480035
Gene: F8
NoEvidence: No mention of blood disorders, Hemophilia or F8 here. Search engine might have seen EP-F8, which is a compound oxirane-- not the F8 gene.
-
-
illiad.lib.unc.edu illiad.lib.unc.edu
-
PMID: 8320491
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs
PMID: 31261034
Gene: F8
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Direct comparison of two extended-half-life recombinant FVIII products: a randomized, crossover pharmacokinetic study in patients with severe hemophilia A
PMID: 31236667
Gene: F8
-
-
illiad.lib.unc.edu illiad.lib.unc.edu
-
Novel approach to genetic analysis and results in 3000 hemophilia patientsenrolled in the My Life, Our Future initiative
PMID: 29296726
Gene: F9
HGNC: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
PMID: 25251685
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B
PMID: 23093250
Gene: F9
HGNCID: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Consequences of factor IX mutations in 26 families with haemophilia B
PMID: 9450791
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Analysis of the N-glycans of recombinant human Factor IX purified from transgenic pig milk
PMID: 18456721
Gene: F9
HGNC: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa
PMID: 8295821
Gene: F9
HGNC: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements
PMID: 1680287
Gene: F9
HGNC: 3551
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Enhanced potency of recombinant factor VIIa with increased affinity to activated platelets
PMID: 31549480
Gene: F8
InsufficientEvidence: This article mentions variants and patient tissue being used separately; however, does not tie them in together, without a variant to tie the proband to, it’s insufficient evidence.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
PMID: 30160169
Gene: F8
HGNC: 3546
NoEvidence: This article does not mention probands with variants in Hemophilia A
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations
PMID: 20695909
Gene: F9
HGNC: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity V. Nummi, V. Nummi orcid.org/0000-0002-5134-7288 Faculty of Medicine, University of Helsinki, Helsinki, Finland Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, Helsinki, FinlandSearch for more papers by this authorA. Jouppila, A. Jouppila Helsinki University Hospital Research Institute, Helsinki, FinlandSearch for more papers by this authorR. Lassila, Corresponding Author R. Lassila riitta.lassila@hus.fi Faculty of Medicine, University of Helsinki, Helsinki, Finland Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, Helsinki, Finland Correspondence: Riitta Lassila, Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, P.O. Box 372, 00029 HUS, Helsinki, Finland. Tel.: +358 40 517 5547; Fax: +358 9 471 74504; E-mail: riitta.lassila@hus.fiSearch for more papers by this author
PMID: 28406575
Gene: F9
HGNC: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Clinical Problem Solving and Using New Paths in the Laboratory: Learning from Case Studies
PMID: 32820490
Gene: F9
HGNC: 3551
-
-
www.proquest.com www.proquest.com
-
Factor IX mutations in Haemophilia B patients in Malaysia: a preliminary study
PMID: 22870602
Gene: F9
HGNC: 3551
-
-
europepmc.org europepmc.org
-
Glucose hypometabolism in the visual cortex proportional to disease severity in patients with essential blepharospasm.
PMID: 31487599
Gene: F8
NoEvidence: No mention of blood disorders, F8 or Hemophilia A in this article.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Haemophilia A: the consequences of de novo mutations. Two case reports
PMID: 28488976
Gene: F8
HGNCID: 3546
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Characterization of genetic defects of hemophilia B of Chinese origin
PMID: 1796396
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A
PMID: 29652675
Gene: F8
HGNC ID: HGNC:3546
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The CDC Hemophilia B mutation project mutation list: a new online resource
PMID: 24498619
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
PMID: 33363863
Gene: F8
HGNCID: 3546
-
-
pdf.sciencedirectassets.com pdf.sciencedirectassets.com
-
Usual and unusual mutations in a cohort ofBelgian patients with hemophilia B
PMID: 27865967
Gene: F9
HGNC: 3551
-
-
journals.sagepub.com journals.sagepub.com
-
Predictive Value of Slow and Fast EEG Oscillations for Methylphenidate Response in ADHD
PMID: 31304784
Gene: F8
NoEvidence: This article is not about Hemophilia A, blood disorders, or F8. This article is centered around ADHD.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness
PMID: 14609846
Gene: NYX
HGNC: 8082
Disease: Congenital stationary night blindness 1A
MONDO: 0010690
InheritancePattern: X-linked recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.
Penetrance: Penetrance is thought to be complete.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus
PMID: 19390656
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
-
-
iovs.arvojournals.org iovs.arvojournals.org
-
Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1
PMID: 26114493
Gene: OPN1LW
HGNC: 9936
Disease: protan color blindness
MONDO: 0010565
InheritancePattern: X-linked
Prevalence: The overall prevalence of protan color blindness is approximately 1% in males, which is higher than that of blue cone monochromacy (~1 in 100,000, PMID: 35759666).
Penetrance: Known disease-causing alleles appear to be almost completely penetrant in males (PMID: 21167193).
-
-
iovs.arvojournals.org iovs.arvojournals.org
-
Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families
PMID: 15914600
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Heterozygous 'null allele' mutation in the human peripherin/RDS gene
PMID: 8111389
Gene: PRPH2
HGNC: 9942
Disease: retinitis pigmentosa 7
MONDO: 0011974
InheritancePattern: semi-dominant
Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).
Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons
PMID: 35138024
Gene: PRPF4
HGNC: 17349
Disease: retinitis pigmentosa 70
MONDO: 0014400
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.
Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
PMID: 28644393
Gene: IMPG2
HGNC: 18362
Disease: retinitis pigmentosa 56
MONDO: 0013314
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
-
Molecular cloning of a retina-specific membrane guanylyl cyclase
PMID: 1356371
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
PMID: 24959063
Gene: PRPF4
HGNC: 17349
Disease: retinitis pigmentosa 70
MONDO: 0014400
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.
Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
PMID: 27032803
Gene: BBS1
HGNC: 966
Disease: Bardet-Biedl syndrome 1
MONDO: 0008854
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy
PMID: 25766589
Gene: RBP3
HGNC: 9921
Disease: retinitis pigmentosa 66
MONDO: 0014093
InheritancePattern: autosomal recessive
Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).
Penetrance: RBP3 disease-causing variants appear to have complete penetrance.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease
PMID: 30640974
Gene: CTNNB1
HGNC: 2514
Disease: severe intellectual disability-progressive spastic diplegia syndrome
MONDO: 0014035
InheritancePattern: autosomal dominant
Prevalence: The incidence is unknown but estimated to be between 1 in 30,000 and 1 in 40,000 births (PMID: 32168371).
Penetrance: The penetrance of the cognitive impairment phenotype among cases appears to be near-complete, while the exudative vitreoretinopathy phenotype reportedly has a prevalence of ~39% among affected individuals with a syndromic diagnosis.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
PMID: 17574030
Gene: BBS7
HGNC: 18758
Disease: Bardet-Biedl syndrome 7
MONDO: 0014435
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
PMID: 34800980
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene
PMID: 18849587
Gene: PDE6A
HGNC: 8785
Disease: retinitis pigmentosa 43
MONDO: MONDO:0013437
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients
PMID: 25711638
Gene: LRP5
HGNC: 6697
Disease: osteoporosis-pseudoglioma syndrome
MONDO: 0009820
InheritancePattern: autosomal recessive
Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.
Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder
PMID: 38206458
Gene: CABP4
HGNC: 1386
Disease: cone-rod synaptic disorder, congenital nonprogressive
MONDO: 0012490
InheritancePattern: autosomal recessive
Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).
Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein
PMID: 1986774
Gene: PRPH2
HGNC: 9942
Disease: retinitis pigmentosa 7
MONDO: 0011974
InheritancePattern: semi-dominant
Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).
Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Retinal Structure and Function in Achromatopsia: Implications for Gene Therapy
PMID: 24148654
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
-
-
academic.oup.com academic.oup.com
-
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks
PMID: 30239781
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
PMID: 23105016
Gene: IMPG2
HGNC: 18362
Disease: retinitis pigmentosa 56
MONDO: 0013314
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
PMID: 32737437
autosomal dominant case
-
-
academic.oup.com academic.oup.com
-
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
PMID: 11971870
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced retinitis pigmentosa
PMID: 36206764
Gene: IMPG2
HGNC: 18362
Disease: retinitis pigmentosa 56
MONDO: 0013314
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
academic.oup.com academic.oup.com
-
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy
PMID: 11115851
Gene: GUCY2D
HGNC: 4689
Disease: Cone-rod dystrophy 6
MONDO: 0011143
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.
Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia
PMID: 34287097
Gene: OPN1LW
HGNC: 9936
Disease: red color blindness
MONDO: MONDO:0010565
InheritancePattern: X-linked
Prevalence: Protanomaly and protanopia are common disorders with peak frequencies (among the males of certain populations) of 1.94% and 1.28%, respectively (PMID: 30258865).
Penetrance: The penetrance of the phenotype among hemizygous cases appears to be complete or near-complete.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa
PMID: 28549772
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
jmg.bmj.com jmg.bmj.com
-
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
PMID: 12960219
Gene: RPE65
HGNC: 10294
Disease: Leber congenital amaurosis 2
MONDO: 0008765
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.
Penetrance: Fully penetrant, with onset typically by 1 year of age
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
LRP5 variants may contribute to ADPKD
PMID: 25920554
Gene: LRP5
HGNC: 6697
Disease: osteoporosis-pseudoglioma syndrome
MONDO: 0009820
InheritancePattern: autosomal recessive
Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.
Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms
PMID: 29706353
Gene: IFT140
HGNC: 29077
Disease: Short-rib thoracic dysplasia 9 with or without polydactyly
MONDO: 0009964
InheritancePattern: autosomal recessive
Prevalence: Within the lumped disease entity for this curation, the most prevalent form may be retinitis pigmentosa. The prevalence of Saldino-Mainzer syndrome (one of the synonyms of Short-rib thoracic dysplasia 9) is less than 1 in 1,000,000. The prevalence of Leber congenital amaurosis cases caused by IFT140 variants (PMID: 26216056) is calculated to be less than 1 in 3,000,000. Although IFT140 variants are estimated to be responsible for less than 2% of RP, the prevalence of the overall disorder at 1 in 3,000 or 1 in 4,000 means the frequency of these cases could potentially be higher than 1 in 1,000,000.
Penetrance: Known variants for this lumped disease entity appear to be completely penetrant, with highly variable phenotypes and age of onset. On the other hand, the split disease entity caused by monoallelic IFT140 variants appears to have incomplete penetrance.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
PMID: 33805381
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells
PMID: 34793838
Gene: TRPM1
HGNC: 7146
Disease: congenital stationary night blindness 1C
MONDO: MONDO:0013183
InheritancePattern: autosomal recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.
Penetrance: Penetrance is thought to be complete.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella
PMID: 20038682
Gene: BBS1
HGNC: 966
Disease: Bardet-Biedl syndrome 1
MONDO: 0008854
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
PMID: 16632484
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
www.molvis.org www.molvis.org
-
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population
PMID: 30996589
Gene: RPE65
HGNC: 10294
Disease: Leber congenital amaurosis 2
MONDO: 0008765
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.
Penetrance: Fully penetrant, with onset typically by 1 year of age
-
-
www.jbc.org www.jbc.org
-
Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors RPGR to the Connecting Cilium
PMID: 11104772
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
www.sciencedirect.com www.sciencedirect.com
-
Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency
PMID: 16814585
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
-
-
www.molbiolcell.org www.molbiolcell.org
-
Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3
PMID: 12134079
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy
PMID: 32666594
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations
PMID: 14962443
Gene: RPE65
HGNC: 10294
Disease: Leber congenital amaurosis 2
MONDO: 0008765
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.
Penetrance: Fully penetrant, with onset typically by 1 year of age
-
-
www.sciencedirect.com www.sciencedirect.com
-
Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells
PMID: 31606330
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP
PMID: 31607844
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
academic.oup.com academic.oup.com
-
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
PMID: 11978759
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Safety of a pasteurized plasma‐derived Factor VIII and von Willebrand factor concentrate: analysis of 33 years of pharmacovigilance data
PMID: 28691218
Gene: VWF
HGNCID: 12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden
PMID: 1419803
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
PMID: 20409624
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2M
MONDO: 0015630
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Plasma levels of plasminogen activator inhibitor‐1 and bleeding phenotype in patients with von Willebrand disease
PMID: 28306198
Gene: VWF
HGNCID: 12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Efficacy and safety of a VWF/FVIII concentrate (wilate ® ) in inherited von Willebrand disease patients undergoing surgical procedures
PMID: 28026130
Gene: VWF
HGNCID: 12726
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease
PMID: 22479377 Gene: VWF HGNCID: HGNC:12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Haemostatic patterns and bleeding scores of a genetically characterised Italian family with combined haemophilia A and type 1 von Willebrand disease
PMID: 27380589
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Potential misdiagnosis of von Willebrand disease and haemophilia caused by ineffective mixing of thawed plasma
PMID: 28750474
Gene: VWF
HGNCID: 12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
PT-VWD posing diagnostic and therapeutic challenges - small case series
PMID: 27819553
Gene: GP1BA
HGNCID: 4439
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Development of a novel flow cytometric immunobead array to quantify VWF: Ag and VWF: GPIbR and its application in acute myocardial infarction
PMID: 28523822
Gene: VWF
HGNCID: 12726
-
-
www.jthjournal.org www.jthjournal.org
-
Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification
PMID: 21410641
Gene: VWF
HGNCID: 12726
-
-
web.b.ebscohost.com.libproxy.lib.unc.edu web.b.ebscohost.com.libproxy.lib.unc.edu
-
PT-VWD posing diagnostic and therapeutic challenges – small case series.
PMID: 27819553
Gene: VWF
HGNCID: 12726
-
-
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
-
Occult cancer detection in patients with hemostatic disorder and venous thromboembolism
PMID: 28587726
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L
PMID: 27483487
Gene: VWF
HGNCID: 12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Higher and lower active circulating VWF levels: different facets of von Willebrand disease
PMID: 26456374
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
ashpublications.org ashpublications.org
-
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
PMID: 16985174
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2A
MONDO: 0015628
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
ashpublications.org ashpublications.org
-
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE
PMID: 20351307
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2A
MONDO: 0015628
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Recombinant von Willebrand factor for severe gastrointestinal bleeding unresponsive to other treatments in a patient with type 2A von Willebrand disease: a case report
PMID: 28379876
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Increase of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?
PMID: 28751564
Gene: VWF
HGNCID: 12726
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
A case report in hypertrophic cardiomyopathy in a recreational athlete: multimodality risk assessment, genetic insights, and shared decision-making
PMID: 41550885 Gene: MYBPC3 HGNC: 7551
-
-
www-ahajournals-org.libproxy.lib.unc.edu www-ahajournals-org.libproxy.lib.unc.edu
-
Ebstein’s Anomaly
PMID: 24502034
Gene: MYH7
HGNC: 7577
General overview of Ebstein's Anomaly
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy
PMID: 32369506
Gene: MYH7
HGNC: 7577
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Effects of immunomodulation in classic infantile Pompe patients with high antibody titers
PMID: 31256280
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study
PMID: 30832705 Gene: GAA
-
-
www.sciencedirect.com www.sciencedirect.com
-
The nature of respiratory muscle weakness in patients with late-onset Pompe disease
PMID: 31327549
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease
PMID: 24399866
Gene: GAA
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Clinical And Molecular Insights into Glanzmann’s Thrombasthenia in China
PMID: 29675921
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as gene names shown above
-
-
www.sciencedirect.com www.sciencedirect.com
-
Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs
PMID: 31010659
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
InsufficientEvidence: This is a review article. There are no specific case reports; however, there are cited articles which may have GT probands states in them
PreviouslyPublished: PMIDs: 3015287, 2935559, 8982055, 12437677
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A novel form of integrin dysfunction involving β1, β2, and β3 integrins
PMID: 12511588
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with LAD-1 and GT like symptoms however no variants in ITGA2B and/or ITGB3 are mentioned
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
The role of platelets in venous thrombosis: a patient with Glanzmann's thrombasthenia and a factor V Leiden mutation suffering from deep venous thrombosis
PMID: 12871523
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Colonoscopy polypectomy management in Glanzmann’s thrombasthenia
PMID: 21160656
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 mentioned
-
-
journals.sagepub.com journals.sagepub.com
-
Two Genetic Defects in αIIb Are Associated with Type I Glanzmann's Thrombasthenia in a Great Pyrenees Dog: A 14-base Insertion in Exon 13 and a Splicing Defect of Intron 13
PMID: 11105947
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions two genetic defects in the ITGA2B gene; however, in dogs not GT human patients; therefore, we have insufficient evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Functional Comparison of Induced Pluripotent Stem Cell- and Blood-Derived GPIIbIIIa Deficient Platelets
PMID: 25607928
Gene: ITGA2B
HGNC: 6138
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults
PMID: 30117143
Gene: ITGA2B and ITGB3 (Article mentions these genes)
HGNC: 6138 and 6156
NoEvidence: No mention of probands or variants in this article
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watermark.silverchair.com watermark.silverchair.com2344.pdf1
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Effect of Deletion of Glycoprotein IIb Exon 28 on the Expression of the Platelet Glycoprotein IIb/IIIa Complex
PMID: 1932748
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a different variants in ITGA2B/ITGB3; however, no GT probands are mentioned in this article harboring these variants
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Local file Local file
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Novel mutations in GP IIb gene in Glanzmann’s thrombastheniafrom India
PMID: 19172520
Gene: ITGA2B
HGNC: 6138
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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50-kD Integrin-Associated Protein Does Not Detectably Influence Several Functions of Glycoprotein IIb-IIIa Complex in Human Platelets
PMID: 7662966
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions a variant in ITGB3 (p.Ser752Pro); however, there is no GT proband mentioned who harbors this variant; therefore, there is insufficient evidence.
Note: This article mentions CHO and HEL cell expression studies; however, they are not testing the variant in these cell lines, so the experimental assay evidence does not apply in this situation
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Local file Local file
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Insertion of a C in the exon 28 of integrinaIIb gene leadingto a frameshift mutation is responsible for Glanzmannthrombasthenia in a Japanese case
PMID: 15748238
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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Description of 10 new mutations in plateletglycoprotein IIb (aIIb) and glycoprotein IIIa (b3)genes
PMID: 11798398
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
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www.jbc.org www.jbc.org
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Involvement of Platelet Glycoprotein IIb-IIIa (aIIb-P3 Integrin) in Thrombin-induced Synthesis of Phosphatidylinositol 3’,4’- Bisphosphate
PMID: 1660876
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
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Local file Local file
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A Val193Met mutation in GPIIIa results in a GPIIb/IIIareceptor with a constitutively high affinity for a small ligand
PMID: 11722423
Gene: ITGB3
HGNC: 6156
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