PatientID: None
KindredID: 1
Case: M, 34Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: None.
CasePresentingHPOs: HP:0000957, HP:0000997, HP:0009737, HP:0006880, HP:0010797, HP:0200034, HP:0005306, HP:0001067 (Cafe-au-lait spot, Axillary freckling, Lisch nodules, cerebellar hemangioblastoma, hemangioblastoma, Papule, Capillary hemangioma, Neurofibromas)
CaseHPOFreeText: Referred to dermatology for multiple bleeding papules, the lesions of concern were exophytic, red, vascular papules located on the right jawline, front of the right shoulder, left lower aspect of the back, and right lower aspect of the back, consistent with lobular capillary hemangiomas. The patient was given the diagnosis of NF1 based on clinical findings that were first noted in childhood including multiple café au lait macules, axillary freckling, and Lisch nodules. VHL was suspected after magnetic resonance imaging showed hemangioblastoma of the left cerebellum during evaluation of sensorineural hearing loss. On the face, trunk, and extremities there were at least 20 scattered well-defined, ovoid, light-brown macules. Involving the chest, abdomen, and back were multiple discrete 4- to 8-mm subcutaneous rubbery-soft nodules. Axillary freckling was noted on both axilla and the groin.
CaseNotHPOs: N/A
CaseNotHPOFreeText: He did not have any additional tumors or cysts in the central nervous system or visceral organs that are common in VHL.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.P81S(c.241C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2233 https://www.ncbi.nlm.nih.gov/clinvar/variation/2233/
CAID: N/A
gnomAD: 0.0002179 https://gnomad.broadinstitute.org/variant/3-10183772-C-T
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: P81S(c.241C>T)
MultipleGeneVariants: N/A