Pigmented Nodular Adrenocortical Disease, Primary, 4

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OMIM 57 615830 MedGen 42 C4014425 CN188261 MeSH 44 D003480

SNOMED-CT via HPO 69 263681008 18963009 21061000119107 35489007 78667006 73211009 24184005 38341003 312894000 78441005 64859006 302227002 424131007 425075004 77643000 399939002 247427007 11381005 278040002 56317004 249939004 161831008 262286000 8943002 419920004 more UMLS 73 C4014425

UniProtKB/Swiss-Prot : ⁷⁵ Primary pigmented nodular adrenocortical disease 4: 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.

MalaCards based summary : Pigmented Nodular Adrenocortical Disease, Primary, 4, is also known as chromosome 19p13 duplication syndrome, and has symptoms including cushingoid facies An important gene associated with Pigmented Nodular Adrenocortical Disease, Primary, 4 is PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha). Affiliated tissues include adrenal gland, cortex and skin, and related phenotypes are emotional lability and depressivity

OMIM : ⁵⁷ Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014). (615830)

Clinical features from OMIM:

615830

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