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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Anemia, Hemolytic
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
|
|
|