Rescue of heart lipoprotein lipase-knockout mice confirms a role for triglyceride in optimal heart metabolism and function
PMID: 24085031
Gene: MYH7
HGNC: 7577
"Defective energy intake and not the reduced uptake of fat-soluble vitamins or cholesterol is responsible for cardiac dysfunction in hLPL0 mice. In addition, our studies suggest that adaptations in cardiac metabolism contribute to the beneficial effects of exercise on the myocardium of patients with heart failure"
Epigenetic Regulation of the Electrophysiological Phenotype of Human Embryonic Stem Cell-Derived Ventricular Cardiomyocytes: Insights for Driven Maturation and Hypertrophic Growth
PMID: 23656529
Gene: MYH7
HGNC: 7577
Unique Transcriptional Profile of Sustained Ligand-Activated Preconditioning in Pre- and Post-Ischemic Myocardium
PMID: 23991079
Gene: MYH7
HGNC: 7577
"we here applied un-biased transcriptome-wide interrogation to identify molecular changes associated with novel SLP."
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing
PMID: 28790153
Gene: MYH7
HGNC:7577
A novel ACTC1
PMID:28491642
Gene:ACTC1
HGNC ID:143
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
CasePresentingHPOs: HP:0004756
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
Pilot study identifying myosin heavy chain 7, desmin, insulin-like growth factor 7, and annexin A2 as circulating biomarkers of human heart failure
PMID: 23713052
Gene: MYH7
HGNC: 7577
Cardiomyopathy Mutations in the Tail of β-Cardiac Myosin Modify the Coiled-coil Structure and Affect Integration into Thick Filaments in Muscle Sarcomeres in Adult Cardiomyocytes*
PMID: 24047955
Gene: MYH7
HGNC: 7577
"It is unclear why mutations in the filament-forming tail of myosin heavy chain (MHC) cause hypertrophic or dilated cardiomyopathy as these mutations should not directly affect contraction. To investigate this, we first investigated the impact of five hypertrophic cardiomyopathy-causing (N1327K, E1356K, R1382W, E1555K, and R1768K) and one dilated cardiomyopathy-causing (R1500W) tail mutations on their ability to incorporate into muscle sarcomeres in vivo."
Results suggest that small effects of mutations on helicity translate into a reduced ability to incorporate into sarcomeres, which may elicit compensatory hypertrophy.
Nonsense Mutations in BAG3 are Associated With Early-Onset Dilated Cardiomyopathy in French Canadians
PMID: 25448463
Gene: MYH7
HGNC: 7577
Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study
PMID: 32160020
Gene: MYH7
HGNC: 7577
The goal of this study was to adjust the framework for interpreting MHY7 variants. In 97 probands and 2059 variants, they found that "15/97 (15.5%) probands have likely pathogenic/P variants."
Variant information found in Table 3.
Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene
PMID: 32607476
Gene: MYH7
HGNC: 7577
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
PMID: 36945405
Gene: ACTC1
HGNC ID: 143
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
PMID: 31510962
Gene:GAA
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
PMID: 33977031
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT
PMID: 23825616
Gene: GAA
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients
PMID: PMC7711282
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
PMID: 31076647
Gene GAA
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
PMID: 30371346
Gene: GAA
Infantile onset Pompe disease presenting with non-immune hydrops fetalis
PMID: 31467850
Gene: GAA
Disease: Pompe disease
Inheritance: Autosomal recessive
Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
PMID: 25626711
Gene: GAA
Bright tongue sign in patients with late-onset Pompe disease
PMID: 31256280
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
Pompe disease or glycogen storage disease type II is a rare genetic disease produced by mutations in the GAA gene encoding the enzyme acid alpha glucosidase (AAG).
PMID: 33732206
Gene: GAA
Disease: Pompe disease
Inheritance: Autosomal recessive
Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran.
PMID: 23912132
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article discusses GT; however no probands with variants in ITGA2B and ITGB3 are discussed.
Note: Annotated on the PubMed Abstract because the journal this article is in, Blood Coagulation and Fibrinolysis does not work properly.
Primary arrest of circulating platelets on collagen involves phosphorylationof Syk, cortactin and focal adhesion kinase : studies under flow conditions
PMID: 11988077
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 insufficient evidence. However, the present study used blood samples from 2 patients with GT; therefore, the gene name and HGNC are included in this annotation
A large alteration in the human plateletglycoprotein Ilia (integrin p\) geneassociated with Glanzmann'sthrombasthenia
PMID: 8111390
Gene: ITGA2B
HGNC: 6138
Improving selection of αIIbβ3-binding phage antibodies with increased reactivity derived from immunized donors
PMID: 14499243
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions GT case reports; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
British Journal of HaematoJogy. 1995. 89. 124-130 Platelets with 10% of the normal amount of glycoprotein VI have an impaired response to collagen that results in a mild bleeding tendency
PMID: 7530476
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
Modulation of clinical phenotype of Glanzmann's thrombastheniaby thrombogenic mutations
PMID: 19245802
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients; however, variants in ITGA2B and ITGB3 are not mentioned
Human platelet alloantigen polymorphism in Glanzmann's thrombasthenia and its impact on the severity of the disease Kanjaksha Ghosh Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Bipin Kulkarni Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Sona Nair Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Shrimati Shetty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Dipika Mohanty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author
PMID: 12406067
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention variants in ITGA2B and/or ITGB3 in the probands in this article; therefore, we have insufficient evidence
C560Rβ3 caused platelet integrin αIIbβ3 to Bind Fibrinogen Continuously yet Resulted in a Severe Bleeding Syndrome and Increased Murine Mortality
PMID: 23551977
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article talks about a GT variant however in mice, not humans.
Integrins on Rat Osteoclasts: Characterization of Two Monoclonal Antibodies (F4 and F11) to Rat p3
PMID: 1585837
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
Effectsofanovellowvolumeresuscitationsolutionsoncoagulationandplateletfunction
PMID: 31042735
Gene: ITGA2B and ITGB3
HGNC 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia case reports/probands and variants in ITGA2B and/or ITGB3 are not mentioned.
Mutations in theb3 gene giving rise to type IGlanzmann thrombasthenia in twofamilies in Portugal
PMID: 14985172
Gene: ITGB3
HGNC: 6156
Genetic analysis of integrin function in man:LAD-1 and other syndromes
PMID: 10936446
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions variants in the ITGB3 gene; however, the variants are not connected to GT probands; therefore, we have insufficient evidence
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia
PMID: 11091187
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
Secondary prophylaxis with warfarin for recurrent thrombosis in a patient with Glanzmann thrombasthenia and F5 G1691A
PMID: 21848888
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned
Glanzmann thrombasthenia
PMID: 16722529
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions many variants in ITGA2B/ITGB3 (See Fig. 1 and 2); however, no mention of probands with these variants
A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers
PMID: 22183252
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in 10 GT patients; however, it does not specify each case/proband with their gender/age/ethnicity and bleeding phenotypes.
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease
PMID: 30551951
Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband is presented in this article with GT; however, no variant information is provided therefore insufficient evidence
Autoimmune Thrombocytopenic Purpura (AITP) andAcquired Thrombasthenia Due to Autoantibodies to GPIIb-IIIa in a Patient With an Unusual Platelet MembraneGlycoprotein Composition
PMID: 9462551
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a patient with thrombocytopenia; however, there is no mention of this proband harboring variants in ITGA2B and/or ITGB3
The use of recombinant factor VIIa in a patient with severe Glanzmann's thrombasthenia to facilitate insertion of a Port-a-Cath.
PMID: 10695773
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 were mentioned in this individual therefore there is insufficient evidence
Note: Able to get PDF of article; however, was not able to use Hypothes.is on the PDF
A new multiplex PCR and conformation‐sensitive gel electrophoresis strategy for mutation detection in the platelet glycoprotein αIIb and β3 genes
PMID: 17083650
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
Two Human Antibodies Reacting With Different Epitopes on Integrin Beta 3 of Platelets and Endothelial Cells
PMID: 7517865
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (case report); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
Novel and Recurrent Mutations ofITGA2BandITGB3Genes inKorean Patients with Glanzmann Thrombasthenia
PMID: 22190468
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
Two homozygous missense mutations in ITGB3 gene as acause of Glanzmann Thrombasthenia in four consanguineousPakistani pedigrees
PMID: 32558238
Severe Juvenile Vaginal Bleeding Due to Glanzmann's Thrombasthenia: Case Report and Review of the Literature
PMID: 9495374
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
Fetal-neonatal alloimmune thrombocytopenia and unexpected Glanzmann thrombasthenia carrier: report of two cases
PMID: 15819676
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
Nonsense Mutation in Exon-19 of GPIIb Associatedwith Thrombasthenic Phenotype.Failure of GPIIb(597-1008) to Form Stable Complexeswith GPIIIa
PMID: 12008952
Gene: ITGA2B
HGNC: 6138
Sustained engraftment and resolution of bleeding phenotype after unrelated cord blood hematopoietic stem cell transplantation for severe glanzmann thrombasthenia.
PMID: 19648793
Genes: ITGA2B and/or ITBG3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
The effect of platelets on fibrin gel structure formed in the presence of recombinant factor VIIa in hemophilia plasma and in plasma from a patient with Glanzmann thrombasthenia
PMID: 15670032
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a patient with GT; however, the patient does not have variants in ITGA2B and/or ITGB3
Further Characterization of the Thrombasthenia-related Idiotype OG. Antiidiotype Defines a Novel Epitope(s) Shared by Fibrinogen BE Chain, Vitronectin, and yon Willebrand Factor and Required for Binding to/33
PMID: 7525851
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT proband; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore there is insufficient evidence
Thrombospondin-inducedAdhesionofHumanPlatelets
PMID: 2010551
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 naturally occurring Tyr143HisαIIb mutation abolishes αIIbβ3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects
PMID: 12506038
Gene: ITGA2B
HGNC: 6138
A β3 Asp217→Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin αIIBβ3 functions
PMID: 18832906
Gene: ITGB3
HGNC: 6156
Identification of a nonsense mutation at amino acid 5 84-Arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia
PMID: 8485050
Gene: ITGA2B
HGNC: 6138
Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran
PMID: 29951177
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Article mentions Glanzmann thrombasthenia probands; however, no variants associated with patients therefore insufficient evidence
Glanzmann thrombasthenia and Bernard–Souliersyndrome in south Iran
PMID: 16178914
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions various probands with GT; however, there are no mentioned variants in ITGA2B and/or ITGB3, therefore, we have insufficient evidence
Open aortic valve replacement in a patient with Glanzmann’sthrombasthenia: a multidisciplinary strategy to minimizeperioperative bleeding
PMID: 23710629
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Mention of proband with Glanzmann thrombasthenia however no variants in the proband are mentioned for ITGA2B and ITGB3
Cytoskeletal perturbation leads to plateletdysfunction and thrombocytopenia in variantforms of Glanzmann thrombasthenia
PMID: 26452979
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions variants in ITGB3; however, there is no specific GT proband/patient information; therefore, there is insufficient evidence
An αIIb mutation in patients with Glanzmann thrombasthenia located in the N‐terminus of blade 1 of the β‐propeller (Asn2Asp) disrupts a calcium binding site in blade 6
PMID: 21029361
Gene: ITGA2B
HGNC: 6138
Note: Although article mention 4 probands being studied, the caption under Fig 1 with the pedigree states, "Shown are three of the four homozygous patients (lanes 2, 4 and 6), heterozygotes" therefore the 4th proband is not mentioned
Glanzmann’s Thrombasthenia: Identification of 19 New Mutations in 30 Patients
PMID: 12083483
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
Created page notes for proband information because the table will not let me highlight the proband info
Identificationofafunctionallyimportantsequenceinthecytoplasmictailofintegrinf33byusingcell-permeablepeptideanalogs
PMID: 8876221
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions variants in ITGB3; however, there are no Glanzmann thrombasthenia patients mentioned harboring these variants; therefore, there is insufficient evidence
Labeling of the Internal Pool of GP IIb-IIIa in Platelets by c7E3 Fab Fragments (abciximab): Flow and Endocytic Mechanisms Contribute to the Transport
PMID: 10029591
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a GT patient in another article; however, this article does not specifically mention any GT case reports
PreviouslyPublished: PMID: 2180491 and PMID:
Glanzmann Thrombasthenia Associated with a 21–Amino Acid Deletion (Leu817-Gln837) in Glycoprotein IIb due to Abnormal Splicing in Exon 25
PMID: 15293575
Gene: ITGA2B
HGNC: 6138
Inherited mutations within the calcium-binding sites of the integrin orIIb subunit (platelet glycoprotein IIb) Effects of the amino acid side chain and the amino acid position on cation binding
PMID: 8925838
Gene: ITGA2B
HGNC: 6138
Integrin-Dependent Phosphorylation and Activation of the Protein Tyrosine Kinase pp125 FAr in Platelets
PMID: 1385445
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Human endoglin as a potential new partner involved in platelet–endothelium interactions
PMID: 29080903
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: No mention of patients with Glanzmann thrombasthenia or variants in probands. This article is about endoglin, an adhesion molecule involved in the interaction between endothelial cells and platelets through intigren recognition
αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia
PMID: 25827233
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively
InsufficientEvidence: This article analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by WES comprising around 32,000 alleles from 16,108 individuals. There is no specific tie between variants and probands; therefore, there is insufficient evidence
Proteolysis of Platelet Cortactin by Calpain*
PMID: 9235918
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
NoEvdidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Diagnosis of Disorders of Platelet Function by Flow Cytometry
PMID: 12840847
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two probands with GT; however, no variants in ITGA2B and/or ITGB3 were mentioned
Glanzmann Thrombasthenia: State of the Art and Future Directions
PMID: 23929305
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT; there are several previously published probands; however, there are no new case reports in this article.
A genetic analysis of integrin function: Glanzmannthrombastheniain vitro
PMID: 9050889
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions ITGA2B/ITGB3 variants and has experimental evidence; however, no GT cases reports are mentioned here
Note: Previously published articles are mentioned here, they have been tagged
Successful unrelated donor cord blood transplantation for Glanzmann’s thrombasthenia Carrie L. Kitko Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author John E. Levine Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author Dana C. Matthews Department of Pediatrics, University of Washington, Seattle, WASearch for more papers by this author Paul A. Carpenter Department of Pediatrics, University of Washington, Seattle, WA Fred Hutchinson Cancer Research Center, Seattle, WA, USASearch for more papers by this author
PMID: 19849809
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions patients with GT however no variants in ITGA2B and/or ITGB3 are mentioned here
Homozygous Point Mutations in Platelet Glycoprotein ITGA2B Gene as Cause of Glanzmann Thrombasthenia in 2 Families
PMID: 22513797
Gene: ITGA2B
HGNC: 6138
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
PMID: 28851564
Gene: RAB39B
Disease: early-onset parkinsonism-intellectual disability syndrome
MonDO: MONDO:0010709
Notes: The family reported has a phenotype of ID and autism. Parkinson disease or clinical features of Parkinsonism are not noted in any patients. Proband may be scored upon expert review.
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
PMID: 29858904
Gene: PHEX
Disease: X-linked hypophosphatemic rickets
MonDO: 0010619
InheritancePattern: X- linked Dominant
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
PMID: 32102177
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO:
InheritancePattern: AR
Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy
PMID: PMID:27057166
Gene: TPM1
Disease: hypertrophic cardiomyopathy 3
MonDO: MONDO:0007267
InheritancePattern: AD
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
PMID: 38606545
Gene: TERC
Disease:
MonDO:
InheritancePattern:
Notes:
H Syndrome: A Case Report and Review of Literature
PMID: 29527032
GeneName: SLC29A3
HGNC: HGNC:23096
Disease: H syndrome
MonDO ID: MONDO:0011273
Inheritance: AR
no genetic testing performed
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
PMID: 30305043
Gene: GALNS
Disease: Mucopolysaccharidosis
MonDO: MONDO:0009659
InheritancePattern: AR
Notes:
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
PMID:
Gene: OPA1
Disease: hereditary optic neuropathy
980 patients in this study with suspected hereditary optic neuropathies were evaluated by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes. 295 had variants in OPA1; however the exact count for this variant was not provided and neither was any additional phenotypic information.
GALNS mutations in Indian patients with mucopolysaccharidosis IVA
PMID: 25252036
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes:
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
PMID: 34387910
Gene: GALNS
Disease: Mucopolysaccharidosis IVA "Morquio A syndrome"
MonDO: MONDO:0009659
InheritancePattern: AR
Notes: Review
Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
PMID: 35859948
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes: Case Report
ArhGEF18 regulates RhoA-Rock2 signaling to maintain neuro-epithelial apico-basal polarity and proliferation
PMID: 23698346
Gene: ARHGEF18
Disease: Retinitis pigmentosa
MonDO: MONDO:0019200
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
PMID 21436073
Diesease Bone marrow failure linked to pulmonary fibrosis
Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene
PMID: 29106755
Gene: HEXB
Disease: Sandhoff Disease
MonDO: MONDO:0010006
Late-Onset Combined Immunodeficiency with Refractory CMV Disease due to ICOSL Deficiency
PMID: 34694545
Gene: ICOSLG
Disease: Combined Immunodeficiency
MonDO: MONDO:0015131
InheritancePattern: Autosomal recessive
Notes:
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
PMID: 28132693
Gene: ARHGEF18
Disease: Retinitis pigmentosa
MonDO ID: MONDO:0019200
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease
PMID: 14583446
Gene: GALNS
Disease: mucopolysaccharidosis IVA/Morquio A
MonDO: MONDO:0009659
InheritancePattern: AR
Notes:
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy
PMID: 29801986
Gene: CPS1
Disease: Carbamoyl phosphate dehydrogenase deficiency
MONDO:0009376
InheritancePattern: AR
Molecular genetic assay of mucopolysaccharidosis IVA in South ChinaAuthor links open overlay panel
PMID: 24035930
Gene: GALNS
Disease: Mucopolysaccharidosis type IVA
MonDO: MONDO:0009659
InheritancePattern: AR
H syndrome: The first 79 patients
PMID: 24172204
GeneName: SLC29A3
HGNC: HGNC:23096
Disease: H syndrome
MonDO ID: MONDO:0011273
Inheritance: AR
great review of cases to curate
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
PMID: 29388273
Gene: F9
HGNC: 3551
PMID: 9233593
Gene: F9
HGNC: 3551
First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres
PMID: 8091381
Gene: F9
HGNC: 3551
A recoded view on the F9 p.Cys178Ter pathogenic mechanism
PMID:31978811
Gene: F9
HGNC: 3551
Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients
PMID: 31350267
Gene: F8
HGNC: 3546
InsufficientEvidence: This article groups together all 43 patients so there are no individual case reports that are mentioned
Von Willebrand factor profile in pregnancy: a descriptive study of 390 pregnant women in Morocco
PMID: 31447989
Gene: F8
NoEvidence: This paper does not mention the gene F8; however, it does discuss VWF.
Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
PMID: 18624698
Gene: F9
HGNC: 3551
Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays
PMID: 24452774
Gene: F8
HGNCID: 3546
Extended half‐life rFIX in major surgery—How to improve clinical practice: An intraindividual comparison
PMID: 32185052
Gene: F9
HGNC: 3551
Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family R. Schwaab, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Oldenburg, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany, Department of Human Genetics, Biozentrum, Am Hubland, 97074 Würzburg, Germany,Search for more papers by this authorG. Kemball-Cook, Haemostasis Research Group, MRC Clinical Sciences Centre, Imperial College Medical School, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK, andSearch for more papers by this authorT. Albert, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorC. Juhler, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this authorP. Hanfland, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Ingerslev, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this author
PMID: 10886198
Gene: F8
HGNCID: 3546
Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene
PMID: 10698280
Gene: F9
HGNC: 3551
PMID: 7873393
Gene: F9
HGNC: 3551
Single Domain Antibody Fragments as New Tools for the Detection of Neuronal Tau Protein in Cells and in Mice Studies.
PMID: 31380615
Gene: F8
No Evidence: This article does not discuss F8.
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
PMID: 18184865
Gene: F8
HGNCID: 3546
Design and characterisation of a novel interleukin-15 receptor alpha fusion protein and analysis of interleukin-15 complexation
PMID: 31348785
Gene: F8
No Evidence: This article does not mention F8 or Hemophilia A
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
PMID: 29754767
Gene: F8
HGNC: 3546
InsufficientEvidence: This article mentions a F8 variant however does not have a detailed case report for a proband
Outcomes After Urgent Thyroidectomy Following Rapid Control of Thyrotoxicosis in Graves’ Disease are Similar to Those After Elective Surgery in Well-Controlled Disease
PMID: 31430659
Gene: F8
No Evidence: This article discusses Graves Disease, there is no mention of Hemophilia A or F8.
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
PMID: 31257730
Gene: F9
HGNC: 3551
Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay
PMID: 32766856
Gene: F9
HGNC: 3551
Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data
PMID: 11298607
Gene: F9
HGNC: 3551
Molecular genotyping of the Italian cohort of patients with hemophilia B
PMID: 15921378
Gene: F9
HGNC: 3551
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
PMID: 32875744
Gene: F9
HGNC: 3551
Secretion of wild-type factor IX upon readthrough over F9pre-peptide nonsense mutations causing hemophilia B
PMID: 29388273
Gene: F9
HGNC: 3551
Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor
PMID: 3461460
Gene: F9
HGNC: 3551
Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran
PMID: 15569175
Gene: F9
HGNC: 3551
Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis
PMID: 30922616
Gene: F8
HGNC: 3546
InsufficientEvidence: This article is a review, it does not mention any new case reports
PreviouslyPublished
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
PMID: 25251685
Gene: F9
HGNC: 3551
Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis
PMID: 8320491
Gene: F9
HGNC: 3551
Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India
PMID: 16270648
Gene: F9
HGNC: 3551
Xanthommatin is Behind the Antioxidant Activity ofthe Skin ofDosidicus gigas
PMID: 31547094
Gene: F8
NoEvidence: No patients or variants mentioned here in this article
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
PMID: 22639855
Gene: F9
HGNC: 3551
Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations
PMID: 29450643
Gene: F9
HGNC: 3551
Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
PMID: 8217825
Gene: F9
HGNC: 3551
Enhanced Rates of C–H Bond Cleavage by a Hydrogen-Bonded Synthetic Heme High-Valent Iron(IV) Oxo Complex
PMID: 31318198
Gene: F8
NoEvidence: This paper does not mention Hemophilia A or F8. No patients and no variants included.
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy
PMID: 26359340
Gene: IFT140
HGNC: 29077
Disease: Retinitis pigmentosa 80
MONDO: 0054708
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 6,500).
Penetrance: Disease caused by biallelic IFT140 variants appears to be fully penetrant.
Localization of the Functional Domains of Human Tissue Inhibitor of Metalloproteinases-3 and the Effects of a Sorsby's Fundus Dystrophy Mutation
PMID: 9642234
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
Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa
PMID: 20673862
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.
Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR
PMID: 37089697
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.
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa
PMID: 9501220
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 20
MONDO: 0013425
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 recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.
Penetrance: Fully penetrant, with onset typically in childhood
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism
PMID: 28211458
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.
Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5
PMID: 15346351
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.
Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
PMID: 24167615
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.
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
PMID: 12077706
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
PMID: 16055928
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.
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse
PMID: 25001182
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).
OA1 mutations and deletions in X-linked ocular albinism.
PMID: 9529334
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.
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
PMID: 23418020
Gene: IFT140
HGNC: 29077
Disease: short-rib thoracic dysplasia 9 with or without polydactyly
MONDO: 0009964
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of short-rib thoracic dysplasia is estimated to be between 1 in 100,000 and 1 in 130,000 births (PMID: 931421).
Penetrance: Disease caused by biallelic IFT140 variants appears to be fully penetrant.
Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence
PMID: 29847651
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.
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy
PMID: 27587748
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
Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1
PMID: 25185585
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.
Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis
PMID: 16505055
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
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
PMID: 23993198
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
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.
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism
PMID: 31757977
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
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations
PMID: 36317196
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
PMID: 19615668
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel
PMID: 25515582
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.
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
PMID: 30080950
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris
PMID: 32323592
The Function of Guanylate Cyclase 1 and Guanylate Cyclase 2 in Rod and Cone Photoreceptors
PMID: 17255100
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
Dominant mutations in RP1L1 are responsible for occult macular dystrophy
PMID: 20826268
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome
PMID: 30839500
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.
Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome
PMID: 24009529
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.
Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
PMID: 37264419
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).
IMPG2-associated retinitis pigmentosa displays relatively early macular involvement
PMID: 24876279
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.
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
PMID: 12920075
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.
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations
PMID: 20052765
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
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone–rod dystrophies
PMID: 26298565
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.
Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix
PMID: 29777959
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
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.
Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism
PMID: 11734514
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
Cone Photoreceptor Function Loss-3, a Novel Mouse Model of Achromatopsia Due to a Mutation in Gnat2
PMID: 17065522
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
Disruption of a Retinal Guanylyl Cyclase Gene Leads to Cone-Specific Dystrophy and Paradoxical Rod Behavior
PMID: 10407028
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
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy
PMID: 27228167
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.
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
PMID: 8659519
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.
Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction
PMID: 19379737
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
PMID: 18836446
Gene: EYS
HGNC: 21555
Disease: Retinitis pigmentosa 25
MONDO: MONDO:0011272
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 caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.
Penetrance: The disease appears to be completely penetrant among published families.
Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy
PMID: 40172514
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy
PMID: 23023527
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
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
PMID: 32715858
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
Retinal Development and Pathophysiology in Kcnj13 Knockout Mice
PMID: 35096838
Gene: KCNJ13
HGNC: 6259
Disease: Leber congenital amaurosis 16
MONDO: 0013613
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns (PMID: 10951519), while the proportion of Leber congenital amaurosis caused by KCNJ13 variants is unknown.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
PMID: 19657028
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
PMID: 27124789
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation
PMID: 19610097
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.
Mutation spectrum and clinical investigation ofachromatopsia patients with mutations in the GNAT2 gene
PMID: 31058429
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
Ocular albinism: evidence for a defect in an intracellular signal transduction system
PMID: 10471510
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.
Characterization of Human Cone Phosphodiesterase-6 Ectopically Expressed in Xenopus laevis Rods
PMID: 19801642
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes
PMID: 25766588
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
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies
PMID: 27203721
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
Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision
PMID: 32265257
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
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.
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
PMID: 18697795
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.
NYX (Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein
PMID: 14507859
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.
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene
PMID: 7710395
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).
Interaction between G-coupled Protein Receptor 143 and tyrosinase: Implications for understanding Ocular Albinism Type-1
PMID: 27720922
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.
Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa
PMID: 28676737
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.
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65
PMID: 10191083
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
A Novel His158Arg Mutation in TIMP3 Causes a Late-Onset Form of Sorsby Fundus Dystrophy
PMID: 16989765
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
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
PMID: 8673101
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.
PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture
PMID: 31654038
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden
PMID: 28532774
Gene: KCNQ1
HGNC: 6294
A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice
PMID: 28041994
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 87 with choroidal involvement
MONDO: 0032873
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 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.
Penetrance: Incomplete penetrance, estimated at 80%
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
PMID: 23847139
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.
A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities
PMID: 1733835
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.
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
PMID: 19074801
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.
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
PMID: 11062472
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.
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
PMID: 20157620
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.
Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency
PMID: 21671801
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