Details of Disease

General Information of Disease (ID: DISFREPH)

Disease Name Gamma-glutamylcysteine synthetase deficiency
Synonyms
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency; gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to; inborn glutamate-cysteine ligase activity disorder; rare inborn error of glutamate-cysteine ligase activity; glutamate-cysteine ligase deficiency; inborn error of glutamate-cysteine ligase activity; gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
Definition Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
Disease Hierarchy
DISHJT9E: Inherited glutathione metabolism disease
DISO5FAY: Inborn error of metabolism
DISFREPH: Gamma-glutamylcysteine synthetase deficiency
Disease Identifiers
MONDO ID
MONDO_0009259
MESH ID
C565557
UMLS CUI
C1856603
OMIM ID
230450
MedGen ID
347272
Orphanet ID
33574

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GCLC DESYL1F Strong Autosomal recessive [1]
GCLC DESYL1F Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GCLC OTESDI4D Strong Autosomal recessive [1]
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References

1 The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. Blood. 1999 Oct 15;94(8):2890-4.
2 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.