Triosephosphate isomerase deficiency

Preferred Label : Triosephosphate isomerase deficiency;

Symbol : TPID;

CISMeF acronym : TPID;

Type : Phenotype, molecular basis known;

Description : Triosephosphate isomerase (TPI) deficiency is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy. Homozygotes exhibit markedly reduced enzyme activity in all tissues studied, accompanied by metabolic block in glycolysis with intracellular accumulation of dihydroxyacetonephosphate (DHAP), particularly in red blood cells, which lack the capacity to metabolize DHAP in the glycerophosphate shuttle via alpha-glycerophosphate dehydrogenase. Heterozygotes have approximately 50% normal TPI activity, but manifest no evidence of metabolic block or clinical effects, implying that this level of enzyme activity is sufficient to maintain normal metabolic function (summary by Ationu et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the triosephosphate isomerase-1 gene (TPI1, 190450.0001);

Laboratory abnormalities : Increased levels of dihydroxyacetone phosphate (DHAP) in tissues and red cells; Decreased activity of triosephosphate isomerase;

Prefixed ID : #615512;

Details

Origin ID

615512;

UMLS CUI

C1860808;

Currated CISMeF NLP mapping
- Triose phosphate isomerase deficiency (disorder) [SNOMED CT concept]
- Triose phosphate-isomerase deficiency [ORDO Disease]
- Triosephosphate Isomerase Deficiency [NCIt concept]
- triosephosphate isomerase 1 [ORDO Gene]
- triosephosphate isomerase deficiency [MeSH concept]
- triosephosphate isomerase deficiency [MeSH Supplementary Concept]
- triosephosphate isomerase deficiency [DO Concept]
DO Cross reference
- triosephosphate isomerase deficiency [DO Concept]
Genes related to phenotype
- Triosephosphate isomerase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cholecystitis [HPO term]
- Cholelithiasis [HPO term]
- Chronic hemolytic anemia [HPO term]
- Congestive heart failure [HPO term]
- Death in adolescence [HPO term]
- Death in infancy [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemolytic anemia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Jaundice [HPO term]
- Kyphosis [HPO term]
- Macrocytic anemia [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Neonatal onset [HPO term]
- Normochromic anemia [HPO term]
- Normocytic anemia [HPO term]
- Oligohydramnios [HPO term]
- Optic disc pallor [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive muscle weakness [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Respiratory distress [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Triose phosphate-isomerase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Triosephosphate Isomerase Deficiency [NCIt concept]
- triosephosphate isomerase deficiency [MeSH concept]
- triosephosphate isomerase deficiency [MeSH Supplementary Concept]
- triosephosphate isomerase deficiency [DO Concept]
Validated automatic mappings to BTNT
- Haemolytic anaemia due to triose phosphate-isomerase deficiency [ICD-11 More detail]

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