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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 11 Nov 2026

      PatientID: 2

      KindredID: 1

      Case: F, 38Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: 3 other family members were included in this study and all had the same VHL variant. Patient 3 (Gen 2) presented with bilateral pheochromocytoma and died due to a ruptured aortic aneurysm of Takayasu arteritis. Patient 4 (Gen 2) presented with bilateral pheochromocytoma. Patient 1 (Gen 2) presented with bilateral pheochromocytoma and sympathetic paraganglioma and PNET.

      CohortInfo: This retrospective study was conducted at Department of Endocrinology of a tertiary care health centre in Western India. Patients presented to our institute between 2008 and 2016 were included in the study. During the study period a total of 33 patients were suspected to have VHL syndrome based on clinical features among whom 31 patients were found to have mutation in VHL gene. All patients are of Asian Indian descent.

      CasePresentingHPOs: HP:0002666; HP:0030405 (Pheochromocytoma, Pancreatic endocrine tumor)

      CaseHPOFreeText: Unilateral pheochromocytomaMetastasis found at age 38. Died due to metastatic PNET.

      CaseNotHPOs: HP:0005584; HP:0001737; HP:0009711; HP:0010797; HP:0002668 (Renal cell carcinoma, Pancreatic cysts, Retinal capillary hemangioma, Hemangioblastoma, Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHLDiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:38 AgeOfPresentation:pancreaticendocrinetumor:38 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/