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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 26 Oct 2026

      GroupID: 22

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 3 of the 573 patients discussed in this paper were found to have the following mutation belonging to 1 family. 

      GroupPresentingHPOs: HP:0006880; HP:0009711; HP:0005584 (cerebellar hemangioblastoma, retinal capillary hemangioma; renal cell carcinoma)

      GroupHPOFreeText: 1 patient had retinal angiomas diagnosed at the age of 15Y, 1 had cerebellar hemangioblastomas diagnosed at 20Y, and 1 member had RCC diagnosed at 38Y.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.H125Qfs*7 (c.374dupA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2499307153 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499307153

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication

      CivicName: H125fs (c.374insA) 

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:15 AgeOfPresentation:renalcellcarcinoma:38 AgeOfPresentation:cerebellarhemangioblastoma:20 CAID:CA2499307153 ClinVarID:N/A RefSeq:NM_000551.2 Mutation:Germline MutationType:duplication cDNAposition:374 AminoAcidChange:HIStoGLN ProteinPosition:125 CivicName:H125fs(c.374insA) ExperimentalAssay SupplementalData Familial FamilyCohort InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.20385
  3. link.springer.com link.springer.com
    Conservative management of endolymphatic sac tumors in von Hippel–Lindau disease: case report
    1
    1. ClingenBaseline 22 Oct 2026
      Patient 2 The second patient had a familial history of VHL disease but had never been screened for central nervous system manifestations when she experienced a sudden left hearing loss at 18 years old. The MRI revealed a left mass of the temporal bone invading the otic capsule but without extension in the cerebellopontine angle (Fig. 1) and also a cystic hemangioblastoma of the brainstem with significant mass burden but no associated symptoms. It was decided to operate on the hemangioblastoma first due to its size and location and the endolymphatic sac tumor remained under surveillance. The MTD of the endolymphatic sac tumor at diagnosis was 1.9 cm. Apart from central nervous systems hemangioblastomas, the patient developed pancreatic cysts in the course of her VHL disease. The germline mutation of the VHL gene was also identified (c.345C>G, p.His115Gln). During 18 years of surveillance, the tumor increased in size following a two-phase growth pattern alternating phases of quiescence and phases of continuous growth (Fig. 2). Apart from her left cophosis, she did not suffer from any vestibular symptoms and the rest of her neurological exam remained normal. As tumor did not develop in the cerebellopontine angle and did not threaten the brainstem, it was decided to postpone surgery and the patient remains under surveillance.

      PatientID: 2

      KindredID: 2

      Case: F, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial history of VHL disease

      CasePresentingHPOs: HP:0030393; HP:0010797; HP:0001737 (endolymphatic sac tumor, hemangioblastoma, pancreatic cysts)

      CaseHPOFreeText: at 18Y experienced a sudden left hearing loss (MRI revealed hemangioblastomas of the temporal bone invading the otic capsule; operated on; the MTD of the endolymphatic sac tumor at diagnosis was 1.9 cm). The patient also developed pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Q (c.345C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496058 https://www.ncbi.nlm.nih.gov/clinvar/variation/496058/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: H115Q (c.345C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL InheritancePattern:AutosomalDominant DiseaseEntity:endolymphaticsactumor DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeOfPresentation:endolymphaticsactumor:18 AminoAcidChange:HIStoGLN ProteinPosition:115 cDNAposition:345 ClinVarID:496058 ClinVarID:Yes Familial MutationType:missense_variant;transversion CivicName:H115Q(c.345C>G) Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00701-010-0873-5