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pigmented nodular adrenocortical disease, primary, 3

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.
Uniprot Description A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
Mondo Term and Equivalent IDs
MONDO:0013616:  pigmented nodular adrenocortical disease, primary, 3
UMLS:C3280094: