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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Benefits of screening in von Hippel-Lindau disease--comparison of morbidity associated with initial tumours in affected parents and children
    1
    1. ClingenBaseline 13 Nov 2026

      PatientID: None (Proband)

      KindredID: 1

      Case: M, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient had two children with the same genetic mutation. Son presented with bilateral pheochromocytoma (13Y) and endolymphatic sac tumor (19Y). Daughter was asymptomatic.

      CasePresentingHPOs: HP:0005584; HP:0002666; HP:0001945; HP:0000790 (Renal cell carcinoma, Pheochromocytoma, Fever, Hematuria)

      CaseHPOFreeText: A 48Y man presented with loin pain, pyrexia and haematuria. He was initially thought to have pyelonephritis but a renal ultrasound scan showed a right renal mass. The CT scan and the MRI confirmed the finding of a large right renal mass invading the renal vein and also identified bilateral adrenal masses. hoarse voice due to a mass impinging on the laryngeal nerves. A diagnosis of VHL presenting with a metastatic right RCC and bilateral pheochromocytomas was made. Despite chemotherapy for the metastatic RCC, he died 1 year after diagnosis.

      CaseNotHPOs: HP:0000822 (Hypertension)

      CaseNotHPOFreeText: He was normotensive at 48Y.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: c.712C>T

      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

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:fever AgeOfPresentation:renalcellcarcinoma:48 AgeOfPresentation:pheochromocytoma:48 AgeOfPresentation:fever:48 AgeOfPresentation:hematuria:48 Mutation:Germline cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/16651847/