Glucose-6-phosphate dehydrogenase

Preferred Label : Glucose-6-phosphate dehydrogenase;

Symbol : G6PD;

CISMeF acronym : G6PD;

Type : Gene;

Description : Since identification of deficiency of G6PD (Carson et al., 1956) and of its X-chromosomal determination (Childs et al., 1958) in the 1950s and demonstration of electrophoretic variants of this enzyme in the early 1960s (Boyer et al., 1962), the genetic, clinical and biochemical significance of this polymorphism has been found to be great. G6PD (EC 1.1.1.49) is in the hexose monophosphate pathway, the only;

Ensembl ID : ENSG00000160211;

Prefixed ID : *305900;

Details

Origin ID

305900;

UMLS CUI

C1333652;

Automatic exact mappings (from CISMeF team)
- G6PD Gene [NCIt concept]
- G6PD gene [LOINC component]
- Glucose-6-Phosphate Dehydrogenase Measurement [NCIt concept]
- glucose-6-phosphate dehydrogenase [HGNC gene]
- glucose-6-phosphate dehydrogenase A- [MeSH Supplementary Concept]
- glucose-6-phosphate dehydrogenase A- [MeSH concept]
- glucosephosphate dehydrogenase [MeSH Descriptor]
Currated CISMeF NLP mapping
- Anaemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency [ICD-10 Sub-category (who)]
- Anemia due to glucose-6-phosphate dehydrogenase [G6PD] deficiency [ICD-10 Sub-category]
- Deficiency of glucose-6-phosphate dehydrogenase (disorder) [SNOMED CT concept]
- G-6 PD deficiency [MedDRA LLT]
- G6PD deficiency [MedDRA LLT]
- Glucose-6-Phosphate 1-Dehydrogenase [NCIt concept]
- Glucose-6-Phosphate Dehydrogenase Deficiency [NCIt concept]
- Glucose-6-Phosphate dehydrogenase [LOINC component]
- Glucose-6-phosphate dehydrogenase [MedDRA Preferred Term]
- Glucose-6-phosphate dehydrogenase (substance) [SNOMED CT concept]
- Glucose-6-phosphate dehydrogenase deficiency [MedDRA Preferred Term]
- Glucose-6-phosphate dehydrogenase deficiency anemia (disorder) [SNOMED CT concept]
- Haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency [ICD-11 Sub-sub category]
- glucose-6-phosphate dehydrogenase [SNOMED Notion]
- glucose-6-phosphate dehydrogenase [ORDO Gene]
- glucose-6-phosphate dehydrogenase deficiency anemia, nos [SNOMED Notion]
- glucosephosphate dehydrogenase deficiency [MeSH concept]
HGNC gene
- glucose-6-phosphate dehydrogenase [HGNC gene]
Matching ORDO disease(s)
- Glucose-6-phosphate-dehydrogenase deficiency [ORDO Disease]
NCIt concept(s)
- G6PD Gene [NCIt concept]
- G6PD wt Allele [NCIt concept]
- Glucose-6-Phosphate 1-Dehydrogenase [NCIt concept]
ORDO concept(s)
- glucose-6-phosphate dehydrogenase [ORDO Gene]
Phenotypes related
- Anemia, nonspherocytic hemolytic, due to g6pd deficiency [OMIM Phenotype]
- Malaria, susceptibility to [OMIM Phenotype]
See also inter- (CISMeF)
- Glucose-6-phosphate-dehydrogenase deficiency [ORDO Disease]
- glucosephosphate dehydrogenase deficiency [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- G6PD Gene [NCIt concept]
- G6PD gene [LOINC component]
- glucose-6-phosphate dehydrogenase [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients