Glutathionuria

Preferred Label : Glutathionuria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gamma-glutamyltranspeptidase deficiency; Ggt deficiency; Gamma-glutamyltransferase deficiency; Gtg deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gamma-glutamyltransferase 1 gene (GGT1, 612346.0001);

Laboratory abnormalities : Glutathionemia; Gamma-glutamyltranspeptidase deficiency; Glutathionuria;

Prefixed ID : #231950;

Détails

Origin ID

231950;

UMLS CUI

C0268524;

Automatic exact mappings (from CISMeF team)
- Gamma-glutamyl transpeptidase deficiency [ICD-11 More detail]
- gamma-glutamyl transpeptidase deficiency [DO Concept]
- gamma-glutamyltransferase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Gamma-glutamyl transpeptidase deficiency [ORDO Disease]
- Gamma-glutamyl transpeptidase deficiency (disorder) [SNOMED CT concept]
- Glutathionuria [MeSH concept]
- gamma-glutamyltransferase deficiency [SNOMED Notion]
- glutathionuria [MeSH Supplementary Concept]
DO Cross reference
- gamma-glutamyl transpeptidase deficiency [DO Concept]
Genes related to phenotype
- Gamma-glutamyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Gamma-glutamyl transpeptidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gamma-glutamyl transpeptidase deficiency [ORDO Disease]
- Gamma-glutamyl transpeptidase deficiency (disorder) [SNOMED CT concept]
- Glutathionuria [MeSH concept]
- gamma-glutamyl transpeptidase deficiency [DO Concept]
- gamma-glutamyltransferase deficiency [SNOMED Notion]
- glutathionuria [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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