Cortisone reductase deficiency 1

Preferred Label : Cortisone reductase deficiency 1;

Symbol : CORTRD1;

CISMeF acronym : CORTRD1;

Type : Phenotype, molecular basis known;

Description : Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; 600713). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; 138090) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hexose-6-phosphate dehydrogenase gene (H6PD, 138090.0001);

Prefixed ID : #604931;

Details

Origin ID

604931;

UMLS CUI

C3551716;

Automatic exact mappings (from CISMeF team)
- Chronic disease of respiratory system (disorder) [SNOMED CT concept]
- Chylomicron retention disease [ORDO Disease]
- H6PD wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
- cortisone reductase deficiency 1 [DO Concept]
DO Cross reference
- cortisone reductase deficiency 1 [DO Concept]
Genes related to phenotype
- Hexose-6-phosphate dehydrogenase [OMIM gene]
HPO term(s)
- Acne [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hirsutism [HPO term]
- Infertility [HPO term]
- Obesity [HPO term]
- Oligomenorrhea [HPO term]
- Precocious puberty [HPO term]
ORDO concept(s)
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
See also inter- (CISMeF)
- 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency [NCIt concept]
- Hexose-6-phosphate Dehydrogenase Deficiency [NCIt concept]
- Hyperandrogenism due to cortisone reductase deficiency [ICD-11 More detail]
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
- Hyperandrogenism due to cortisone reductase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cortisone reductase deficiency 1 [DO Concept]
Validated automatic mappings to NTBT
- cortisone reductase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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