Details of Disease

General Information of Disease (ID: DISPB5SZ)

Disease Name Hemolytic anemia due to glutathione reductase deficiency
Synonyms HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
Definition Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.
Disease Hierarchy
DISHJT9E: Inherited glutathione metabolism disease
DIS487SI: Hereditary haemolytic anemia
DISPB5SZ: Hemolytic anemia due to glutathione reductase deficiency
Disease Identifiers
MONDO ID
MONDO_0019531
UMLS CUI
C5231513
OMIM ID
618660
MedGen ID
1684855
Orphanet ID
90030

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GSR DEGDPL2 Strong Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GSR OTM2TUYM Strong Autosomal recessive [1]
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References

1 Molecular basis of glutathione reductase deficiency in human blood cells. Blood. 2007 Apr 15;109(8):3560-6. doi: 10.1182/blood-2006-08-042531. Epub 2006 Dec 21.