Hexose-6-phosphate Dehydrogenase Deficiency

Preferred Label : Hexose-6-phosphate Dehydrogenase Deficiency;

NCIt related terms : Cortisone Reductase Deficiency Type 1;

Alternative definition : NICHD: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.;

NCI Metathesaurus CUI : CL514654;

Details

Origin ID

C131849;

UMLS CUI

C4330259;

Currated CISMeF NLP mapping
- cortisone reductase deficiency 1 [DO Concept]
DO Cross reference
- cortisone reductase deficiency 1 [DO Concept]
See also inter- (CISMeF)
- Cortisone reductase deficiency 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- 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]
- cortisone reductase deficiency [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- H6PD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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