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AIMAH2
MCID: ACT202
MIFTS: 36
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Acth-Independent Macronodular Adrenal Hyperplasia 2 (AIMAH2)
Categories:
Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Acth-Independent Macronodular Adrenal Hyperplasia 2:
Characteristics:HPO:31
acth-independent macronodular adrenal hyperplasia 2:
Inheritance autosomal dominant inheritance somatic mutation Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases Reproductive diseases Bone diseases |
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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.
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). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and adrenal gland, and related phenotypes are abdominal obesity and depressivity 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 : 56 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 : 73 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. |
Human phenotypes related to Acth-Independent Macronodular Adrenal Hyperplasia 2:31 (show all 8)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615954UMLS symptoms related to Acth-Independent Macronodular Adrenal Hyperplasia 2:agitation, generalized fatigue |
Drugs for Acth-Independent Macronodular Adrenal Hyperplasia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Acth-Independent Macronodular Adrenal Hyperplasia 2:40
Bone,
Kidney,
Adrenal Gland,
Skin,
Brain,
Heart
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Articles related to Acth-Independent Macronodular Adrenal Hyperplasia 2:(show all 22)
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Genes related to Acth-Independent Macronodular Adrenal Hyperplasia 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia 2:6
UniProtKB/Swiss-Prot genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia 2:73 (show all 17)
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Search
GEO
for disease gene expression data for Acth-Independent Macronodular Adrenal Hyperplasia 2.
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