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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Cerebellar hemangioblastoma as a late manifestation of sporadic von Hippel-Lindau disease
    1
    1. ClingenBaseline 29 Oct 2026

      PatientID: None

      KindredID: 1

      Case: M, 48Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history was unremarkable and proband has no children.

      CasePresentingHPOs: HP:0006770; HP:0006880; HP:0001737; HP:0001289; HP:0005584 (Clear cell renal cell carcinoma, Cerebellar hemangioblastoma, Pancreatic cysts, Confusion, Renal cell carcinoma)

      CaseHPOFreeText: Presented at age 39 with bilateral renal tumors (2 right side, 3 left side). Pathological evaluation revealed clear cell type renal cell carcinoma (fig. 1, B). After 2 years multiple pancreatic cysts were noted. Two years later 6 bilateral renal cell carcinoma lesions developed. Five years later at age 48 years mental confusion developed and brain MRI showed a cerebellar lesion; histological evaluation revealed cerebellar hemangioblastoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: ex. p.C162W (c.486C>G)

      LegacyVariant: c.699C>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223227, https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: C162W (c.486C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:confusion AgeOfPresentation:renalcellcarcinoma:43 AgeOfPresentation:clearcellrenalcellcarcinoma:39 AgeOfPresentation:pancreaticcysts:41 AgeOfPresentation:cerebellarhemangioblastoma:48 AgeOfPresentation:confusion:48 Mutation:Germline cDNAposition:486 ProteinPosition:162 AminoAcidChange:CYStoTRP ClinVarID:223227 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:C162W(c.486C>G) NoFamilyInfo AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10022713/