TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Disease: Anemia, Hemolytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Triosephosphate isomerase (TPI) deficiency is a fatal genetic disorder characterized by hemolytic anemia and neurological dysfunction. 31111503 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 GeneticVariation disease BEFREE Mutations in the gene triosephosphate isomerase (TPI) lead to a severe multisystem condition that is characterized by hemolytic anemia, a weakened immune system, and significant neurologic symptoms such as seizures, distal neuropathy, and intellectual disability.No effective therapy is available. 31075491 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency. 29720471 2018
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Triosephosphate isomerase (TPI) deficiency is a poorly understood disease characterized by hemolytic anemia, cardiomyopathy, neurologic dysfunction, and early death. 27031109 2016
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. 20374271 2010
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 GeneticVariation disease BEFREE The disease is caused exclusively by specific missense mutations affecting the TPI protein and clinically features hemolytic anemia, adult-onset neurological impairment, degeneration, and reduced longevity. 18458110 2008
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Of the several well-established glycolytic enzyme deficiencies, triosephosphate isomerase (TPI) deficiency is the only one in which haemolytic anaemia is coupled with progressive, severe neurological disorder. 12023819 2002
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Clinical TPI deficiency is a rare autosomal recessive multi-system disorder characterised by non-spherocytic haemolytic anaemia, recurrent infections, cardiomyopathy, severe and fatal neuromuscular dysfunctions. 9850739 1998
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease CTD_human Triose-phosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketol-isomerase, EC 5.3.1.1) deficiency is a recessive disorder that results in hemolytic anemia and neuromuscular dysfunction. 2876430 1986
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 CausalMutation disease CLINVAR