The proband of family 1 (III:3; Fig. 1a), a 32-year-old woman, was diagnosed with a normetanephrine-secreting, 5-cm right PHEO with no other clinical features of VHL disease.
PatientID: III:3
KindredID: 1
Case: F, 32Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Her paternal grandfather (I:1) had been diagnosed with an adrenal tumor and hypertension in his 40s. In addition, four other relatives developed unilateral PHEOs: her father (II:1) at age 73, her 34-year-old brother (III:2), her paternal aunt in her 40s (II:4), and the aunt’s 12-year-old son (III:7). Subsequently, the son of III.7 (IV:3) was also diagnosed with PHEOs at 23 years of age. All affected individuals underwent adrenalectomy and remain asymptomatic, 1 to 30 years after surgery. In addition, a renal cyst was detected in individual III.2 at the time of the PHEO diagnosis, whereas II.1 developed multiple spinal cord hemangioblastomas after the adrenal tumor resection. No RCCs were diagnosed. Other declared diseases in this family are: thyroid nodule and bladder carcinoma but the presenting patient is unclear.
CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.
CasePresentingHPOs: HP:0002666 (Pheochromocytoma)
CaseHPOFreeText: Diagnosed with a normetanephrine-secreting, 5-cm right PHEO with no other clinical features of VHL disease.
CaseNotHPOs: HP:0005584 (Renal cell carcinoma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Figure 1
Variant: p.P138= (c.414A>G)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: P138= (c.414A>G)
MultipleGeneVariants: N/A