2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
    1
    1. ClingenBaseline 12 Nov 2026
      9MProband3c.499C > Tp.Arg167Trp2B47–474747, M484

      PatientID: Proband

      KindredID: 9

      Case: M, 47Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Niece presented with the same variant and CNS hemangioblastoma at 14Y, bilateral retinal hemangioblastoma at 26Y, RCC at 32Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 26Y and bilateral renal cysts at 32Y. Brother had a history of CNS hemangioblastoma but was not genetically confirmed.

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732; HP:0002666; HP:0000107; HP:0002315; HP:0002321 (Hemangioblastoma, Renal cell carcinoma, Abnormality of the pancreas, Pheochromocytoma, Renal cyst, Headache, Vertigo)

      CaseHPOFreeText: Presented with dizziness and headache, which he had experienced for the 3 months prior to examination. CNS hemangioblastoma at 47Y, RCC at 47Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 47Y, renal cyst at 48Y and pheochromocytoma at 47Y. Diagnosed with VHL Type 2B.

      CaseNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      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?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:headache DiseaseEntity:vertigo AgeOfPresentation:hemangioblastoma:47 AgeOfPresentation:renalcellcarcinoma:47 AgeOfPresentation:pancreaticcysts:47 AgeOfPresentation:pheochromocytoma:47 AgeOfPresentation:renalcyst:48 AgeOfPresentation:headache:47 AgeOfPresentation:vertigo:47 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/
  3. Nov 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Attainment of a Long-term Favorable Outcome by Sunitinib Treatment for Pancreatic Neuroendocrine Tumor and Renal Cell Carcinoma Associated with von Hippel-Lindau Disease
    1
    1. ClingenBaseline 04 Nov 2026
      patients with VHL disease

      PatientID: 2

      KindredID: 1

      Case: F, 47Y0M, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s son had retinal capillary hemangioma of right eye at 19Y0M, and of both eyes by 24Y0M, he was also found with numerous tumors in the spinal cord, kidney, pancreas, and liver at age 25Y0M; patient's mother lost her eyesight and died from renal cancer and brain tumors at 58Y0M. No mutation was clearly outlined in mother but the c.233A>G recorded in son. According to family history, the patient was considered to carry type I VHL disease

      CasePresentingHPOs: HP:0001737; HP:0000107; HP:0009711 (pancreatic cysts; renal cyst; retinal capillary hemangioma)

      CaseHPOFreeText: had pancreatic and renal cysts at 37Y0M, and retinal angiomas at 47Y0M

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: unknown

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: unknown

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pancreaticcysts:37 AgeOfPresentation:renalcyst:37 AgeOfPresentation:retinalcapillaryhemangioma:47 Mutation:Germline AssumedRefSeq:NM_000551.3 Familial FamilyPedigree ExperimentalAssay ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/26984080/