History showed that the patient's father had undergone a resection of the right adrenal gland at the age of 48 because of a pheochromocytoma.
PatientID: None
KindredID: 1
Case: M, 48Y0M, Ethnicity Unknown
DiseaseAssertion: Assumed VHL
FamilyInfo: The patient’s daughter had bilateral adrenal pheochromocytoma at 27Y, and was found to have bilateral small lesions suspicious for inactive retinal angiomas upon further investigation. Genetic testing found that the patient’s daughter carried the same NM_000551.3:c.277G>A mutation that the patient was found to carry. The patient’s granddaughter was also found to carry the mutation. The patient's mother had also died at 42Y as a result of a stroke, and the patient’s uncle had died at 57Y as a result of a stroke. There is no genetic information available about them. The other daughter of the patient did not carry the mutation.
CasePresentingHPOs: HP:0006748; HP:0030424; HP:0000107 (Adrenal pheochromocytoma, epididymal cyst, renal cyst)
CaseHPOFreeText: The 48Y male patient presented with a right adrenal pheochromocytoma at 48Y. Further investigation revealed left epididymal cysts and bilateral renal cysts.
CaseNotHPOs: HP:0009713; HP:0009711 (Spinal hemangioblastoma, retinal hemangioblastoma)
CaseNotHPOFreeText: An MRI of the brain and spinal cord showed no signs of hemangioblastomas and examination of the eyes showed no retinal hemangioblastomas.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.G93S (c.277G>A)
LegacyVariant: N/A
ClinVarID: 2237, https://www.ncbi.nlm.nih.gov/clinvar/variation/2237/
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: G93S(c.277G>A)
MultipleGeneVariants: N/A