Details of Disease

General Information of Disease (ID: DIS5QTVL)

Disease Name Triosephosphate isomerase deficiency
Synonyms
TPI deficiency; TPID; triosephosphate isomerase deficiency; hemolytic anemia due to triosephosphate isomerase deficiency; hemolytic anaemia due to triosephosphate isomerase deficiency; triose phosphate-isomerase deficiency
Definition Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DIS0Y78V: Anemia due to erythrocyte enzyme disorder
DIS5IK09: Glucose metabolism disease
DIS30PPZ: Disorder of glycolysis
DIS5QTVL: Triosephosphate isomerase deficiency
Disease Identifiers
MONDO ID
MONDO_0014221
MESH ID
C566029
UMLS CUI
C1860808
OMIM ID
615512
MedGen ID
349893
Orphanet ID
868

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TPI1 OT14KP4B Strong Autosomal recessive [1]
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References

1 Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene. Eur J Haematol. 2010 Aug;85(2):170-3. doi: 10.1111/j.1600-0609.2010.01451.x. Epub 2010 Mar 31.