Glucocorticoid deficiency 1

Preferred Label : Glucocorticoid deficiency 1;

Symbol : GCCD1;

CISMeF acronym : FGD1; GCCD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FGD1; Familial glucocorticoid deficiency 1; Acth resistance; Adrenal unresponsiveness to acth;

Description : Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by Clark et al., 2009). - Genetic Heterogeneity of Familial Glucocorticoid Deficiency Familial glucocorticoid deficiency-2 (GCCD2; 607398) is caused by mutation in the MRAP gene (699196) on chromosome 21q22. GCCD3 has been mapped to chromosome 8q11.2-q13.2. GCCD4 (614736) is caused by mutation in the NNT gene (607878) on chromosome 5p12.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the melanocortin-2 receptor gene (MC2R, 607397.0001);

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

Prefixed ID : #202200;

Details

Origin ID

202200;

UMLS CUI

C4049650;

Automatic exact mappings (from CISMeF team)
- FYVE, RhoGEF and PH domain containing 1 [ORDO Gene]
- Familial Glucocorticoid Deficiency Type 1 [NCIt concept]
- familial glucocorticoid deficiency 1 [MeSH concept]
- glucocorticoid deficiency 1 [DO Concept]
Broader ORDO disease(s)
- Familial glucocorticoid deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Familial glucocorticoid deficiency [ICD-11 More detail]
- Familial glucocorticoid deficiency [ORDO Disease]
- familial glucocorticoid deficiency [Disease (Nov.)]
- familial glucocorticoid deficiency 1 [MeSH Supplementary Concept]
DO Cross reference
- glucocorticoid deficiency 1 [DO Concept]
Genes related to phenotype
- Melanocortin 2 receptor [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Decreased circulating cortisol level [HPO term]
- Failure to thrive [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Increased circulating ACTH level [HPO term]
- Predisposition to severe infections [HPO term]
- Recurrent hypoglycemia [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Tall stature [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 1 [NCIt concept]
- Familial glucocorticoid deficiency [ORDO Disease]
- familial glucocorticoid deficiency [Disease (Nov.)]
- familial glucocorticoid deficiency 1 [MeSH concept]
- familial glucocorticoid deficiency 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Familial glucocorticoid deficiency (disorder) [SNOMED CT concept]

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