Acth-independent macronodular adrenal hyperplasia

Preferred Label : Acth-independent macronodular adrenal hyperplasia;

Symbol : AIMAH1;

CISMeF acronym : AIMAH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corticotropin-independent macronodular adrenal hyperplasia; Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; Acth-independent macronodular adrenocortical hyperplasia; Cushing syndrome, adrenal, due to aimah;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the GNAS gene (GNAS1, 139320.0009);

Neoplasia : No progression to cancer;

Laboratory abnormalities : Increased serum cortisol; Cortisol does not decrease on dexamethasone suppression test; Decreased serum ACTH;

Prefixed ID : #219080;

Details

Origin ID

219080;

UMLS CUI

C1857451;

Automatic exact mappings (from CISMeF team)
- ACTH-independent Cushing syndrome [ORDO Disease]
- ACTH-independent macronodular adrenal hyperplasia 1 [DO Concept]
Currated CISMeF NLP mapping
- ACTH independent macronodular adrenal hyperplasia [Disease (Nov.)]
- ACTH-independent macronodular adrenal hyperplasia [ICD-11 More detail]
- ACTH-independent macronodular adrenal hyperplasia [DO Concept]
- Acth-Independent macronodular adrenal hyperplasia [MeSH concept]
- Acth-Independent macronodular adrenal hyperplasia [MeSH Supplementary Concept]
- Cushing syndrome due to macronodular adrenal hyperplasia [ORDO Disease]
DO Cross reference
- ACTH-independent macronodular adrenal hyperplasia 1 [DO Concept]
Genes related to phenotype
- Gnas complex locus [OMIM gene]
HPO term(s)
- Adrenal hyperplasia [HPO term]
- Adult onset [HPO term]
- Agitation [HPO term]
- Anxiety [HPO term]
- Bruising susceptibility [HPO term]
- Cushing syndrome [HPO term]
- Decreased circulating ACTH level [HPO term]
- Depression [HPO term]
- Emotional lability [HPO term]
- Hypertension [HPO term]
- Increased circulating cortisol level [HPO term]
- Isolated cases [HPO term]
- Kyphosis [HPO term]
- Macronodular adrenal hyperplasia [HPO term]
- Mental deterioration [HPO term]
- Mood changes [HPO term]
- Neoplasm [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Primary hypercortisolism [HPO term]
- Psychosis [HPO term]
- Round face [HPO term]
- Skeletal muscle atrophy [HPO term]
- Somatic mutation [HPO term]
- Sporadic [HPO term]
- Striae distensae [HPO term]
- Thin skin [HPO term]
- Truncal obesity [HPO term]
ORDO concept(s)
- Cushing syndrome due to macronodular adrenal hyperplasia [ORDO Disease]
See also inter- (CISMeF)
- Hypercortisolism due to macronodular adrenal hyperplasia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ACTH independent macronodular adrenal hyperplasia [Disease (Nov.)]
- Acth-Independent macronodular adrenal hyperplasia [MeSH Supplementary Concept]
- Acth-Independent macronodular adrenal hyperplasia [MeSH concept]
- Cushing syndrome due to macronodular adrenal hyperplasia [ORDO Disease]

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