Anemia, congenital, nonspherocytic hemolytic, 7

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 7;

Symbol : CNSHA7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to;

Description : Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle (Meister, 1974). The other 3 disorders are glutathione synthetase deficiency (231900), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency (266130), and gamma-glutamyl transpeptidase deficiency (231950). All except gamma-glutamyl transpeptidase deficiency are accompanied by hemolytic anemia (Larsson and Anderson, 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamate-cysteine ligase, catalytic subunit gene (GCLC, 606857.0001);

Laboratory abnormalities : Glutathione deficiency; Gamma-glutamylcysteine deficiency; Gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency;

Prefixed ID : #230450;

Details

Origin ID

230450;

UMLS CUI

C1856603;

Automatic exact mappings (from CISMeF team)
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
- glutamate-cysteine ligase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH concept]
- Glutamate-cysteine ligase deficiency [ORDO Disease]
- Glutamate-cysteine ligase deficiency (disorder) [SNOMED CT concept]
- glutamate-cysteine ligase deficiency [SNOMED Notion]
DO Cross reference
- glutamate-cysteine ligase deficiency [DO Concept]
Genes related to phenotype
- Glutamate-cysteine ligase, catalytic subunit [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Late-onset spinocerebellar degeneration [HPO term]
- Myopathy [HPO term]
- Polyneuropathy [HPO term]
ORDO concept(s)
- Glutamate-cysteine ligase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH concept]
- Glutamate-cysteine ligase deficiency [ORDO Disease]
- Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency [ICD-11 More detail]
- glutamate-cysteine ligase deficiency [DO Concept]

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