Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency

Preferred Label : Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency;

Symbol : GCCD4;

CISMeF acronym : GCCD4;

Type : Phenotype, molecular basis known;

Description : Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nicotinamide nucleotide transhydrogenase gene (NNT, 607878.0001);

Laboratory abnormalities : Low cortisol level; Unresponsive to ACTH stimulation; Elevated ACTH; Elevated renin level; Hyperkalemia; Hyponatremia; Natriuria, inappropriate; Low aldosterone level;

Prefixed ID : #614736;

Details

Origin ID

614736;

UMLS CUI

C3553587;

Automatic exact mappings (from CISMeF team)
- Familial Glucocorticoid Deficiency Type 4 [NCIt concept]
- Familial glucocorticoid deficiency [ORDO Disease]
Genes related to phenotype
- Nicotinamide nucleotide transhydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital hypothyroidism [HPO term]
- Cryptorchidism [HPO term]
- Failure to thrive [HPO term]
- Hyperkalemia [HPO term]
- Hypoglycemia [HPO term]
- Hypoglycemic coma [HPO term]
- Hyponatremia [HPO term]
- Precocious puberty [HPO term]
- Renal salt wasting [HPO term]
- Seizure [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 4 [NCIt concept]

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