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triosephosphate isomerase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Uniprot Description An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.
Disease Ontology Description A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Mondo Term and Equivalent IDs
MONDO:0014221:  triosephosphate isomerase deficiency
GARD:0005287: 
MESH:C566029: 
NCIT:C131652: 
Orphanet:868: 
SCTID:234405009: 
UMLS:C1860808: