Details of Disease

General Information of Disease (ID: DIS1995T)

Disease Name Hemolytic anemia due to glucophosphate isomerase deficiency
Synonyms hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; glucosephosphate isomerase deficiency
Definition Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.
Disease Hierarchy
DIS0Y78V: Anemia due to erythrocyte enzyme disorder
DISEJNS0: Congenital nonspherocytic hemolytic anemia
DIS30PPZ: Disorder of glycolysis
DIS1995T: Hemolytic anemia due to glucophosphate isomerase deficiency
Disease Identifiers
MONDO ID
MONDO_0013275
UMLS CUI
C3150730
OMIM ID
613470
MedGen ID
462080
Orphanet ID
712

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GPI TT19JIZ Limited Genetic Variation [1]
GPI TT19JIZ Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GPI OTEGSRXG Strong Autosomal recessive [2]
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References

1 Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.Blood Cells Mol Dis. 2018 Mar;69:23-29. doi: 10.1016/j.bcmd.2017.04.003. Epub 2017 Apr 14.
2 Glucose-6-phosphate isomerase deficiency. Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):89-101. doi: 10.1053/beha.1999.0059.