Acth-Independent Macronodular Adrenal Hyperplasia 2 (AIMAH2)

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Disease Ontology 12 DOID:0111624 OMIM® 57 615954 MeSH 44 D003480 MedGen 41 C4014803 CN207837

SNOMED-CT via HPO 68 124975008 21061000119107 237598005 237735008 237778003 24184005 248274002 248311001 263681008 275437005 35489007 38341003 47270006 64859006 78667006 80394007 84229001 more EFO 17 EFO_0009148 UMLS 70 C1857451 C4014803

MedlinePlus Genetics : ⁴³ 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.PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome.

MalaCards based summary : Acth-Independent Macronodular Adrenal Hyperplasia 2, also known as primary macronodular adrenal hyperplasia, is related to acth-independent macronodular adrenal hyperplasia 1 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 adrenal gland, brain and heart, and related phenotypes are abdominal obesity and decreased circulating acth level

Disease Ontology : ¹² An ACTH-independent macronodular adrenal hyperplasia that has material basis in a combination of autosomal dominant and second hit somatic mutation in ARMC5 on chromosome 16p11.2.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² 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 (Updated 20-May-2021)

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