4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma
    1
    1. ClingenBaseline 08 Nov 2026
      Patients: Two generations of a family consisting of 15 individuals were studied.

      PatientID: III:6

      KindredID: 1

      Case: M, 18Y, Spanish

      DiseaseAssertion: VHL

      FamilyInfo: Spanish family of 15 members studied, over 2 generations. 6 members had VHL presentations, 1 was a carrier, and 4 others had the mutation, while 2 were not sequenced. This patient’s sister had passed at 18Y with pheochromocytoma, his other sister presented with the same mutation. His father, aunt and two cousins all showed positive for the familial mutation.

      CasePresentingHPOs: HP:0006748; HP:0009711; HP:0006880 (adrenal pheochromocytoma; retinal capillary hemangioma, cerebellar hemangioblastoma)

      CaseHPOFreeText: at 16Y, he presented and had removed with bilateral adrenal pheochromocytoma (right: 2.7cm; left 4.7cm) with signs and symptoms of intracranial hypertension. At 17Y, brain CT and MRI were abnormal, showing cerebellar tumors (hemangioblastoma). Retinal angiomas were also displayed in this patient.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      LegacyVariant: p.R238T, C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Spanish DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:adrenalpheochromocytoma:16 AgeOfPresentation:cerebellarhemangioblastoma:17 Mutation:Germline AssumedRefSeq:AF010238.1 Familial FamilyPedigree PreviousTesting:RET ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9156047/
  3. Nov 2026
  4. link-springer-com.proxy1.lib.uwo.ca link-springer-com.proxy1.lib.uwo.ca
    Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors
    1
    1. ClingenBaseline 02 Nov 2026
      A female patient observed reduced vision in the right eye at age 17 years. She was diagnosed with retinal angiomatosis of the right eye. Laser therapy and brachytherapy were performed. Vision of the right eye remained reduced to 15%. At age 24, a hemangioblastoma of the cervical spinal cord was resected. At age 27, she underwent craniotomy for a cerebellar hemangioblastoma. Genetic testing revealed the mutation VHL c.394 C > T, which predict a truncated VHL protein (Q132X). In 2007, a 20 mm diameter left renal tumor was detected but not resected owing to its small size, as internationally recommended [1].In 2009 at age 38, abdominal MRI and CT angiography showed, in the axial view, a solid, 3.6 × 3.3 cm tumor of the pancreatic tail (Fig. 2a). Early arterial phase imaging after contrast injection revealed that the tumor had significant hyperperfusion. In addition, multiple pancreatic cysts were noted.

      PatientID: 2

      KindredID: 2

      Case: F, 38Y0M, German

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo:All patients from the German registry for VHL with PNETs >3 cm diameter with tumours located in the pancreatic body or tail region.

      CasePresentingHPOs: HP:0009711, HP:0009713, HP:0006880, HP:0009726, HP:0030405, HP:0001737 (retinal capillary hemangioma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal neoplasm, pancreatic endocrine tumour, pancreatic cysts)

      CaseHPOFreeText: Retinal angiomatosis at age 17, hemangioblastoma of the cervical spinal cord at age 24, cerebellar hemangioblastoma at age 27, left renal tumor at age 36. Pancreatic endocrine tumour and pancreatic cysts at age 38. She had a laparoscopy which found an 8-cm retrogastric cyst, 3.2-cm benign PNET, and a serous cystadenoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 288749 https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

      MutationType:stop_gained InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:German DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:17 DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:24 DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:27 DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:38 AgeofPresentation:pancreaticcysts:38 DiseaseEntity:pancreaticcysts DiseaseEntity:Renalneoplasm AgeOfPresentation:renalneoplasm:36 AssumedRefSeq:NM_000551.3 cDNAposition:394 ProteinPosition:132 AminoAcidChange:GLNto* ClinVarID:288749 ClinVarID:Yes CivicName:Q132*(c.394C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link-springer-com.proxy1.lib.uwo.ca/article/10.1007/s00268-010-0878-5
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report
    1
    1. ClingenBaseline 01 Nov 2026
      Gene sequencing revealed a heterozygous germline mutation ({"type":"entrez-nucleotide","attrs":{"text":"NM_000551.3","term_id":"319655736","term_text":"NM_000551.3"}}NM_000551.3(VHL):c.464-1G > C) in the splice site in intron 2 of VHL in the DNA from the peripheral blood of the male patient and nine of his family members (male 4, female 5) (Fig. 3a). In total, five of these nine patients from three generations underwent a total of nine surgical resections for CNS-related HGBs, with an average of 1.8 ± 1.3 surgeries (range: 1–4). All resected lesions were located in the cerebellum. Figure 4 shows the genetic investigation used in this study. In the first, second, and third generations, the ages at which the first operation for CNS HGBs was performed were 67, 32.3, and 17 years, respectively. Notably, the age at which the first operation for CNS HGBs was performed was younger in the children (younger generation) than in their parents (older generation). Additionally, only the mother of the male patient with the {"type":"entrez-nucleotide","attrs":{"text":"NM_000551.3","term_id":"319655736","term_text":"NM_000551.3"}}NM_000551.3(VHL):c.464-1G > C variant was diagnosed with renal cell carcinoma and underwent left nephrectomy.

      PatientID: III-1

      KindredID: 1

      Case: M, 17Y0M, Chinese (East Asian)

      DiseaseAssertion: assumed VHL

      FamilyInfo: A total of 9 of family members (4 male; 5 female) in a 3 generation family were associated with VHL at the splice mutation: c.464-1G>C. 5 members underwent cerebellar HB lesion resections, including his mother, aunt and uncle, and 1 member had RCC. (See Fig 4).

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: He had his first operation for HB at 17Y. No further details were discussed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-1G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223220 https://www.ncbi.nlm.nih.gov/clinvar/variation/223220

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.464-1G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:EastAsian Ethnicity:Chinese DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:17 MutationType:splice_site_variant CivicName:SpliceSite(c.464-1G>C) AminoAcidChange:N/A ProteinPosition:N/A cDNAposition:N/A ClinVarID:223220 ClinVarID:Yes Familial FamilyPedigree AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7528461/
  6. Oct 2026
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An Advanced Well-differentiated Pancreatic Neuroendocrine Carcinoma (NET-G3) Associated with Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 31 Oct 2026
      45-year old Japanese woman

      PatientID: None

      KindredID: 1

      Case: F, 45Y0M, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: No evidence of a family history of VHL.

      CasePresentingHPOs: HP:0001737; HP:0030405; HP:0006880; HP:0006748; HP:0009711; HP:0001732; HP:0002896 (Pancreatic cysts, Pancreatic endocrine tumor, Cerebellar hemangioblastoma, Adrenal pheochromocytoma, Retinal capillary hemangioma, Abnormality of the pancreas, Neoplasm of the liver)

      CaseHPOFreeText: The proband had a cerebellar hemangioblastoma resected at age 17, retinal hemangioblastoma surgery at age 26, and an adrenalectomy for pheochromocytoma at age 30. An abdominal CT revealed a 4cm abdominal mass and diffuse pancreatic cystic lesions, diagnosed as pancreatic neuroendocrine tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText:

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 288749, (https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/)

      CAID: CA10606205 (http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA10606205)

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL Mutation:Germline AminoAcidChange: GLNtoTER ProteinPosition:132 CAiD:CA10606205 MutationType:missense_variant;transition CivicName:Q132*(c.394C>T) DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:hemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:cerebellarhemangioblastoma:17 AgeOfPresentation:retinalcapillaryhemangioma:26 AgeOfPresentation:adrenalpheochromocytoma:30 cDNAposition:394 AssumedRefSeq:NM_000551.3 NonFamilial InheritancePattern:AutosomalDominant Ethnicity:Japanese ClinVarID: 288749 ClinVarID:Yes DiseaseEntity:neoplasmoftheliver inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6096011/