Glucocorticoid deficiency 2

Preferred Label : Glucocorticoid deficiency 2;

Symbol : GCCD2;

CISMeF acronym : FGD2; GCCD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Familial glucocorticoid deficiency 2; FGD2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the melanocortin-2 receptor accessory protein gene (MRAP, 609196.0001);

Laboratory abnormalities : Hypoglycemia; Elevated plasma ACTH; Low to undetectable plasma cortisol; Normal plasma renin; Normal plasma aldosterone;

Prefixed ID : #607398;

Details

Origin ID

607398;

UMLS CUI

C4049714;

Automatic exact mappings (from CISMeF team)
- Familial Glucocorticoid Deficiency Type 2 [NCIt concept]
- Familial glucocorticoid deficiency [ORDO Disease]
Broader ORDO disease(s)
- Familial glucocorticoid deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- familial glucocorticoid deficiency type 2 [Disease (Nov.)]
- glucocorticoid deficiency 2 [MeSH concept]
- glucocorticoid deficiency 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Melanocortin 2 receptor accessory protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating cortisol level [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Increased circulating ACTH level [HPO term]
- Recurrent hypoglycemia [HPO term]
Not associated HPO term(s)
- Abnormal circulating aldosterone [HPO term]
- Abnormal circulating renin [HPO term]
ORDO concept(s)
- Familial glucocorticoid deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Glucocorticoid Deficiency Type 2 [NCIt concept]
- familial glucocorticoid deficiency type 2 [Disease (Nov.)]
- glucocorticoid deficiency 2 [MeSH concept]
- glucocorticoid deficiency 2 [MeSH Supplementary Concept]

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