Cortisone reductase deficiency 2

Preferred Label : Cortisone reductase deficiency 2;

Symbol : CORTRD2;

CISMeF acronym : CORTRD2;

Type : Phenotype, molecular basis known;

Description : Cortisone reductase deficiency (CRD) is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 11-beta-hydroxysteroid dehydrogenase type 1 gene (HSD11B1, 600713.0002);

Prefixed ID : #614662;

Details

Origin ID

614662;

UMLS CUI

C3553382;

Automatic exact mappings (from CISMeF team)
- HSD11B1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- cortisone reductase deficiency 2 [DO Concept]
DO Cross reference
- cortisone reductase deficiency 2 [DO Concept]
Genes related to phenotype
- 11-beta-hydroxysteroid dehydrogenase, type I [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Accelerated skeletal maturation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Insulin resistance [HPO term]
- Obesity [HPO term]
- Premature pubarche [HPO term]
ORDO concept(s)
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cortisone reductase deficiency 2 [DO Concept]

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