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AIMAH2
MCID: ACT202
MIFTS: 35
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Acth-Independent Macronodular Adrenal Hyperplasia 2 (AIMAH2)
Categories:
Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Acth-Independent Macronodular Adrenal Hyperplasia 2:
Characteristics:HPO:33
acth-independent macronodular adrenal hyperplasia 2:
Inheritance somatic mutation autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases |
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Genetics Home Reference
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26
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). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and kidney, and related phenotypes are abdominal obesity and depressivity OMIM : 58 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 : 76 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. |
Diseases in the Acth-Independent Macronodular Adrenal Hyperplasia family:
Diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 19)
Graphical network of the top 20 diseases related to Acth-Independent Macronodular Adrenal Hyperplasia 2:
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Human phenotypes related to Acth-Independent Macronodular Adrenal Hyperplasia 2:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical 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):(show all 18)
Interventional clinical trials:
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MalaCards organs/tissues related to Acth-Independent Macronodular Adrenal Hyperplasia 2:42
Adrenal Gland,
Kidney
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Articles related to Acth-Independent Macronodular Adrenal Hyperplasia 2:
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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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UniProtKB/Swiss-Prot genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia 2:76 (show all 17)
ClinVar genetic disease variations for Acth-Independent Macronodular Adrenal Hyperplasia 2:6 (show all 13)
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Search
GEO
for disease gene expression data for Acth-Independent Macronodular Adrenal Hyperplasia 2.
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