Triose phosphate-isomerase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: TPID
Number of Symptoms 33
OrphanetNr: 868
OMIM Id: 615512
ICD-10: D55.2
UMLs: C0398562
MeSH:
MedDRA:
Snomed: 234405009

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of glycolysis
 -Rare genetic disease
Energy metabolism disorder with epilepsy
 -Rare neurologic disease
Hemolytic anemia due to a disorder of glycolytic enzymes
 -Rare genetic disease
 -Rare hematologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000543) Optic disc pallor rare [HPO:skoehler] 67 / 7739
2
 (HPO:0003134) Abnormality of peripheral nerve conduction Occasional [Orphanet] 38 / 7739
3
 (HPO:0001265) Hyporeflexia 208 / 7739
4
 (HPO:0002317) Unsteady gait 45 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0001332) Dystonia 197 / 7739
7
 (HPO:0009830) Peripheral neuropathy 206 / 7739
8
 (HPO:0001257) Spasticity 251 / 7739
9
 (HPO:0001337) Tremor 200 / 7739
10
 (HPO:0012638) Abnormality of nervous system physiology Very frequent [Orphanet] 12 / 7739
11
 (HPO:0002808) Kyphosis 289 / 7739
12
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
13
 (HPO:0001082) Cholecystitis 9 / 7739
14
 (HPO:0001081) Cholelithiasis 36 / 7739
15
 (HPO:0001744) Splenomegaly 337 / 7739
16
 (HPO:0000952) Jaundice 105 / 7739
17
 (HPO:0001635) Congestive heart failure 232 / 7739
18
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
19
 (HPO:0001930) Nonspherocytic hemolytic anemia 10 / 7739
20
 (HPO:0001895) Normochromic anemia 7 / 7739
21
 (HPO:0001878) Hemolytic anemia 83 / 7739
22
 (HPO:0001897) Normocytic anemia 7 / 7739
23
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
24
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
25
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
26
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
27
 (HPO:0003198) Myopathy 151 / 7739
28
 (OMIM) In vitro autohemolysis not corrected by added glucose 1 / 7739
29
 (OMIM) Increased red cell dihydroxyacetone phosphate (DHAP) 1 / 7739
30
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
31
 (OMIM) Normal osmotic fragility 3 / 7739
32
 (OMIM) Degenerative neurologic disorder with spasticity 1 / 7739
33
 (OMIM) Triosephosphate isomerase deficiency 1 / 7739

Associated genes:

TPI1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM - Prenatal Diagnosis

Bellingham et al. (1989) made a prenatal diagnosis of the heterozygous state by analysis of fetal red cells obtained by cordocentesis at 19 weeks' gestation. Bellingham et al. (1989) recognized that study of chorion ...
Clinical Description OMIM A form of nonspherocytic hemolytic anemia of Dacie's type II (in vitro autohemolysis is not corrected by added glucose) has been found to have a deficiency of red cell triosephosphate isomerase (Schneider et al., 1965). Association with recurrent infection, ...
Molecular genetics OMIM Daar et al. (1986) and Pekrun et al. (1995) identified homoygosity for a glu104-to-asp (E104D; 190450.0001) mutation in the TPI1 gene in patients with triosephosphate deficiency. Arya et al. (1997) found that among 7 unrelated Northern European kindreds with ...
Population genetics OMIM Mohrenweiser (1981) studied the frequency of enzyme deficiency variants in 675 newborn infants and about 200 adults. Seven children were observed with heterozygous TPI deficiency. In each case one parent was also an apparent heterozygote. In Germany, Eber et ...