OBO ID: DOID:0111681
Term Name: glutamate-cysteine ligase deficiency Search Ontology:
Synonyms:
  • gamma-glutamylcysteine synthetase deficiency
  • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Definition: An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1. (2)
References:
Ontology: Human Disease   (DOID:0111681)
OTHER glutamate-cysteine ligase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None