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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family
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    1. ClingenBaseline 23 Oct 2026
      Nine patients were diagnosed with pheochromocytoma. Lumbal spinal hemangioblastoma and pancreatic neuroendocrine tumor without pheochromocytoma were detected in one patient. In patients with pheochromocytoma, additional tumors, such as retinal angioma, renal cell carcinoma, pancreatic serous cystadenoma, and pancreatic neuroendocrine tumors were detected. All patients were diagnosed as VHL syndrome type 2B.

      PatientID: II-2

      KindredID: 1

      Case: F, 58Y0M, Turkish

      DiseaseAssertion: VHL

      FamilyInfo: 17 family members from three generations were examined with the c.445G>T mutation and diagnosed with VHL type 2B. 11 individuals had clinical manifestations and 6 were asymptomatic carriers. This patient’s 3 siblings had the mutation, 2 of her sons, and 3 grandchildren, and more. See Fig. 1 for detailed family pedigree.

      CasePresentingHPOs: HP: 0006748; HP:0005584; HP:0001737; HP:0030405 (adrenal pheochromocytoma, renal cell carcinoma, pancreatic cysts, pancreatic endocrine tumor)

      CaseHPOFreeText: Right adrenal nonfunctional pheochromocytoma; right renal cell carcinoma; Pancreatic serous cystadenoma (with a 7.3 cm tumor at 55Y), and this patient was reoperated 3 years later due to a pancreatic neuroendocrine tumor.

      CaseNotHPOs: HP:0030393; HP:0009715 (endolymphatic sac tumor, papillary cystadenoma of the epididymis) 

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.A149S (c.445G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 127829 https://www.ncbi.nlm.nih.gov/clinvar/variation/127829/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: A149S (c.445G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Turkish DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:A149S(c.445G>T) cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoSER MutationType:missense_variant;transversion ClinVarID:127829 ClinVarID:Yes Familial FamilyPedigree AgeOfPresentation:pancreaticendocrinetumor:55 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/23673869/