Acth-Independent Macronodular Adrenal Hyperplasia 2

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OMIM 57 615954 MedGen 42 C4014803 CN207837 MeSH 44 D003480

SNOMED-CT via HPO 69 263681008 21061000119107 35489007 78667006 24184005 38341003 64859006 124975008 237598005 80394007 237778003 248311001 more UMLS 73 C4014803 C1857451

Genetics Home Reference : ²⁵ Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.

MalaCards based summary : Acth-Independent Macronodular Adrenal Hyperplasia 2, also known as primary macronodular adrenal hyperplasia, is related to cushing syndrome due to macronodular adrenal hyperplasia and acth-independent macronodular adrenal hyperplasia, and has symptoms including agitation and generalized fatigue. An important gene associated with Acth-Independent Macronodular Adrenal Hyperplasia 2 is ARMC5 (Armadillo Repeat Containing 5). Affiliated tissues include kidney and adrenal gland, and related phenotypes are depressivity and hypertension

OMIM : ⁵⁷ ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013). (615954)

UniProtKB/Swiss-Prot : ⁷⁵ ACTH-independent macronodular adrenal hyperplasia 2: A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.

Clinical features from OMIM:

615954

Search Clinical Trials , NIH Clinical Center for Acth-Independent Macronodular Adrenal Hyperplasia 2

Search GEO for disease gene expression data for Acth-Independent Macronodular Adrenal Hyperplasia 2.