PatientID: None

KindredID: 1

Case: F, 78Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0006748; HP:0005584; HP:0006762; HP:0009713; HP:0008200 (Adrenal pheochromocytoma, renal cell carcinoma, pelvic carcinoma, spinal hemangioblastoma, primary hyperparathyroidism)

CaseHPOFreeText: The patient presented with a 3 year history of unstable blood pressure, headache, and chest oppression. The patient had been suffering from hypertension for 35 years. Upon initial examination, she was diagnosed with bilateral adrenal pheochromocytomas, right renal cell carcinoma, and right pelvic carcinoma (transient cell carcinoma). The blood pressure of the patient decreased after the operation, but returned to its preoperative level one month later. Two months after the initial diagnosis, the patient was diagnosed with spinal hemangioblastoma and primary hyperthyroidism. The calcium serum levels of the patient decreased after the operation, but returned to its preoperative level one month later.

CaseNotHPOs: HP:0008046 (Abnormal retinal vascular morphology)

CaseNotHPOFreeText: Fundoscopy did not show vascular abnormalities of the retina.

CasePreviousTesting: RET

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Y98C (c.293A>G)

LegacyVariant: p.Y98C (c.506A>G)

ClinVarID: 223176, https://www.ncbi.nlm.nih.gov/clinvar/variation/223176/

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: Y98C(c.293A>G)

MultipleGeneVariants: N/A

PatientID: III-2

KindredID: 1

Case: M, 16Y0M, ethnicity unknown

DiseaseAssertion: VHL

FamilyInfo:  2 young male twins were examined with the VHL gene mutation with simultaneously manifesting hemangioblastomas of the right cerebellar hemisphere. Both parents were examined with no VHL mutation, detecting a de novo mutation in the twins. A third sibling, two years older, presented with a cafè au lait skin spot. Grand mother had bilateral high myopia and glaucoma. The medical history of the pedigree shows that member (I-1) had severe hypertension and died at 60 from a stroke, member (I-2) died at 40 from ovarian carcinoma, and member (I-3) died at 54 from clinically diagnosed intracerebral haemorrhage.

CasePresentingHPOs: HP:0006880; HP:0009713 (cerebellar hemangioblastoma, spinal hemangioblastoma)

CaseHPOFreeText: in 1994 patient came complaining of blurred vision thought to be due to his myopia. MRI showed a large cyst and a 4.3 cm mural ovoid nodule in the right cerebellar hemisphere. Another small mural nodule was present in the infero-posterolateral portion of the right cerebellar hemisphere. CT disclosed a round homogeneous, hyperintense nodule at T1 in the spinal cord. Raised intracranial pressure due to the compression of aqueduct from the tumour accounted for hydrocephalus and enlarged lateral and 3rd ventricles.

CaseNotHPOs: HP:0001901 (polycythemia)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.N78S (c.233A>G)

CaseProblemVariantFreeText: N/A

LegacyVariant: p.N78S (c.446A>G)

ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: N/A

MultipleGeneVariants: N/A