Details of Disease

General Information of Disease (ID: DISH2YV8)

Disease Name ACTH-independent macronodular adrenal hyperplasia 1
Synonyms
AIMAH1; ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; Cushing syndrome, adrenal, due to AIMAH; ACTH-independent macronodular adrenal hyperplasia; ACTH-independent macronodular adrenal hyperplasia, Somatic mutation
Disease Hierarchy
DISYKSRF: Genetic disease
DISBVOYU: Cushing syndrome due to macronodular adrenal hyperplasia
DISH2YV8: ACTH-independent macronodular adrenal hyperplasia 1
Disease Identifiers
MONDO ID
MONDO_0020735
MESH ID
C565662
UMLS CUI
C1857451
OMIM ID
219080
MedGen ID
347456

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADRA2A TTWG9A4 Limited Biomarker [1]
DOT1L TTSZ8T1 Limited Genetic Variation [2]
MC2R TTPWFDX Limited Altered Expression [1]
GIPR TTYMKBE Strong Altered Expression [3]
HTR4 TT07C3Y Strong Biomarker [4]
PDE11A TTTWC79 Strong Genetic Variation [5]
PRKACA TT5U49F Strong Genetic Variation [6]
GCGR TT9O6WS Definitive Biomarker [7]
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⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCN5 OTADU8JJ Limited Altered Expression [8]
CLASP2 OT5YX0YB Limited Biomarker [2]
GABBR1 OTU5A52J Limited Genetic Variation [1]
MLN OTBZ5SE5 Limited Genetic Variation [1]
SCG5 OTXSJMT1 Limited Biomarker [8]
SPINK4 OTHTCW94 Limited Biomarker [8]
ARMC5 OTO7IV74 Strong Biomarker [9]
GNAS OTMH8BKJ Definitive Somatic mosaicism [10]
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⏷ Show the Full List of 8 DOT(s)

References

1 Systematic analysis of G protein-coupled receptor gene expression in adrenocorticotropin-independent macronodular adrenocortical hyperplasia identifies novel targets for pharmacological control of adrenal Cushing's syndrome.J Clin Endocrinol Metab. 2010 Oct;95(10):E253-62. doi: 10.1210/jc.2009-2281. Epub 2010 Jul 21.
2 Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome.Science. 2014 May 23;344(6186):913-7. doi: 10.1126/science.1249480. Epub 2014 Apr 3.
3 The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors.J Clin Endocrinol Metab. 2002 May;87(5):1980-5. doi: 10.1210/jcem.87.5.8458.
4 Familial adrenocorticotropin-independent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors.Eur J Endocrinol. 2007 Jan;156(1):21-31. doi: 10.1530/eje.1.02324.
5 Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.J Clin Endocrinol Metab. 2012 Nov;97(11):E2063-9. doi: 10.1210/jc.2012-2275. Epub 2012 Sep 20.
6 Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome.J Clin Endocrinol Metab. 2019 Nov 1;104(11):5651-5657. doi: 10.1210/jc.2018-02209.
7 Aberrant expression of glucagon receptors in adrenal glands of a patient with Cushing's syndrome and ACTH-independent macronodular adrenal hyperplasia.Medicina (B Aires). 2010;70(3):254-6.
8 Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.Oncogene. 2004 Feb 26;23(8):1575-85. doi: 10.1038/sj.onc.1207277.
9 Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.Endocr J. 2018 Mar 28;65(3):269-279. doi: 10.1507/endocrj.EJ17-0317. Epub 2017 Dec 27.
10 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.