Hypothesis

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

Tags

Annotators

URL