TPID
MCID: TRS021
MIFTS: 52

Triosephosphate Isomerase Deficiency (TPID)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Triosephosphate Isomerase Deficiency

MalaCards integrated aliases for Triosephosphate Isomerase Deficiency:

Name: Triosephosphate Isomerase Deficiency 57 12 76 53 25 75 29 6 15 40 73
Triose Phosphate-Isomerase Deficiency 12 53 59
Tpid 57 25 75
Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 57 75
Triose Phosphate Isomerase Deficiency 25 73
Tpi Deficiency 53 25
Hereditary Nonspherocytic Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 25
Deficiency of Phosphotriose Isomerase 25

Characteristics:

Orphanet epidemiological data:

59
triose phosphate-isomerase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of hemolytic anemia shortly after birth
onset of neuromuscular symptoms between 6 months and 1 year of age
death in childhood due to respiratory failure may occur


HPO:

32
triosephosphate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Triosephosphate Isomerase Deficiency

NIH Rare Diseases : 53 Triosephosphate isomerase (TPI) deficiency is a severe disorder characterized by a shortage of red blood cells (hemolytic anemia), neurological problems, infections, and muscle weakness that can affect breathing and heart function. TPI deficiency is the most severe form of a group of diseases known as glycolytic enzymopathies, which are rare genetic diseases that lead to the degeneration of the red blood cells.  Signs and symptoms include anemia, fatigue, pallor, yellowing of the skin and the white of the eyes (jaundice), and shortness of breath. Other symptoms are muscle weakness and wasting (atrophy), movement problems (such as involuntary muscle contractions (dystonia), tremors and weak muscle tone), seizures, cardiomyopathy, and diaphragm weakness which may cause breathing problems and lead to respiratory failure. The disease is caused by mutations in the TPI1 gene. Inheritance is autosomal recessive. Treatment is directed toward the specific symptoms that are present in each person. 

MalaCards based summary : Triosephosphate Isomerase Deficiency, also known as triose phosphate-isomerase deficiency, is related to hemolytic anemia and myopathy, and has symptoms including tremor, abnormal pyramidal signs and icterus. An important gene associated with Triosephosphate Isomerase Deficiency is TPI1 (Triosephosphate Isomerase 1), and among its related pathways/superpathways are Metabolism and Class I MHC mediated antigen processing and presentation. Affiliated tissues include heart, skin and eye, and related phenotypes are muscular hypotonia and hypertrophic cardiomyopathy

Disease Ontology : 12 A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has material basis in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.

Genetics Home Reference : 25 Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function.

OMIM : 57 Triosephosphate isomerase deficiency is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010). (615512)

UniProtKB/Swiss-Prot : 75 Triosephosphate isomerase deficiency: An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.

Wikipedia : 76 Triosephosphate isomerase deficiency is a rare autosomal recessivemetabolic disorder which was initially... more...

Related Diseases for Triosephosphate Isomerase Deficiency

Diseases related to Triosephosphate Isomerase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.4
2 myopathy 10.1
3 neuromuscular disease 10.1
4 congenital hemolytic anemia 10.1
5 axonal neuropathy 10.1
6 neuropathy 10.1
7 hypotonia 10.1
8 long qt syndrome 15 9.7 CALM1 CALM2 CALM3
9 long qt syndrome 1 9.7 CALM1 CALM2 CALM3
10 long qt syndrome 9.7 CALM1 CALM2 CALM3
11 otomycosis 9.7 CALM1 CALM2 CALM3
12 external ear disease 9.7 CALM1 CALM2 CALM3
13 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.7 CALM1 CALM2 CALM3
14 sporotrichosis 9.7 CALM1 CALM2 CALM3
15 otitis externa 9.7 CALM1 CALM2 CALM3
16 spontaneous ocular nystagmus 9.7 CALM1 CALM2 CALM3
17 deafness, autosomal recessive 44 9.7 CALM1 CALM2 CALM3
18 acute dacryocystitis 9.7 CALM1 CALM2 CALM3
19 dystonia 24 9.7 CALM1 CALM2 CALM3
20 gestational choriocarcinoma 9.7 CALM1 CALM2 CALM3
21 leber congenital amaurosis 2 9.7 CALM1 CALM2 CALM3
22 tinea unguium 9.7 CALM1 CALM2 CALM3
23 primary systemic mycosis 9.7 CALM1 CALM2 CALM3
24 clear cell acanthoma 9.6 CALM1 CALM2 CALM3
25 cardiomyopathy, dilated, 1a 9.6 CALM1 CALM2 CALM3
26 cardiomyopathy, dilated, 1p 9.6 CALM1 CALM2 CALM3
27 phaeohyphomycosis 9.6 CALM1 CALM2 CALM3
28 deafness, autosomal dominant 2a 9.6 CALM1 CALM2 CALM3
29 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.6 CALM1 CALM2 CALM3
30 ceroid lipofuscinosis, neuronal, 11 9.6 CALM1 CALM2 CALM3
31 primary cutaneous amyloidosis 9.6 CALM1 CALM2 CALM3
32 catecholaminergic polymorphic ventricular tachycardia 9.5 CALM1 CALM2 CALM3
33 cardiac arrest 9.4 CALM1 CALM2 CALM3

Graphical network of the top 20 diseases related to Triosephosphate Isomerase Deficiency:



Diseases related to Triosephosphate Isomerase Deficiency

Symptoms & Phenotypes for Triosephosphate Isomerase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
tremor
dystonia
hypotonia
gait instability
more
Respiratory:
respiratory insufficiency due to muscle weakness

Skin Nails Hair Skin:
jaundice

Immunology:
increased susceptibility to infections

Head And Neck Eyes:
pale optic discs (1 family)

Skeletal Spine:
kyphosis

Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia

Muscle Soft Tissue:
hypotonia
muscle atrophy
muscle weakness, progressive

Hematology:
hemolytic anemia, chronic

Laboratory Abnormalities:
increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells
decreased activity of triosephosphate isomerase


Clinical features from OMIM:

615512

Human phenotypes related to Triosephosphate Isomerase Deficiency:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
3 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
4 decreased nerve conduction velocity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000762
5 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
6 diaphragmatic paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0006597
7 central nervous system degeneration 59 32 hallmark (90%) Very frequent (99-80%) HP:0007009
8 spasticity 32 HP:0001257
9 tremor 32 HP:0001337
10 kyphosis 32 HP:0002808
11 global developmental delay 32 HP:0001263
12 splenomegaly 32 HP:0001744
13 myopathy 32 HP:0003198
14 respiratory insufficiency due to muscle weakness 32 HP:0002747
15 peripheral neuropathy 32 HP:0009830
16 congestive heart failure 32 HP:0001635
17 dystonia 32 HP:0001332
18 cholelithiasis 32 HP:0001081
19 jaundice 32 HP:0000952
20 chronic hemolytic anemia 32 HP:0004870
21 hyporeflexia 32 HP:0001265
22 optic disc pallor 32 occasional (7.5%) HP:0000543
23 cholecystitis 32 HP:0001082
24 generalized hypotonia 32 HP:0001290
25 progressive muscle weakness 32 HP:0003323
26 unsteady gait 32 HP:0002317
27 normocytic anemia 32 HP:0001897
28 normochromic anemia 32 HP:0001895

UMLS symptoms related to Triosephosphate Isomerase Deficiency:


tremor, abnormal pyramidal signs, icterus, muscle spasticity

GenomeRNAi Phenotypes related to Triosephosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CALM1 CALM2 CALM3 CTSA TPI1

Drugs & Therapeutics for Triosephosphate Isomerase Deficiency

Search Clinical Trials , NIH Clinical Center for Triosephosphate Isomerase Deficiency

Genetic Tests for Triosephosphate Isomerase Deficiency

Genetic tests related to Triosephosphate Isomerase Deficiency:

# Genetic test Affiliating Genes
1 Triosephosphate Isomerase Deficiency 29 TPI1

Anatomical Context for Triosephosphate Isomerase Deficiency

MalaCards organs/tissues related to Triosephosphate Isomerase Deficiency:

41
Heart, Skin, Eye, Skeletal Muscle, Testes

Publications for Triosephosphate Isomerase Deficiency

Articles related to Triosephosphate Isomerase Deficiency:

(show all 38)
# Title Authors Year
1
Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency. ( 29571745 )
2018
2
Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics. ( 27031109 )
2016
3
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency. ( 24840153 )
2014
4
Reappraisal of triosephosphate isomerase deficiency. ( 20546019 )
2011
5
Triosephosphate isomerase deficiency: a patient with Val231Met mutation. ( 21215915 )
2011
6
Triosephosphate isomerase deficiency: new insights into an enigmatic disease. ( 19786097 )
2009
7
Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface. ( 18562316 )
2008
8
Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency. ( 17879449 )
2007
9
Triosephosphate isomerase deficiency: facts and doubts. ( 17424909 )
2006
10
Drosophila model of human inherited triosephosphate isomerase deficiency glycolytic enzymopathy. ( 16980388 )
2006
11
Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels. ( 16086671 )
2005
12
Chronic axonal neuropathy with triosephosphate isomerase deficiency. ( 14984912 )
2004
13
Increased formation of methylglyoxal and protein glycation, oxidation and nitrosation in triosephosphate isomerase deficiency. ( 14559119 )
2003
14
Triosephosphate isomerase deficiency: a neurodegenerative misfolding disease. ( 12023819 )
2002
15
Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain. ( 11940494 )
2002
16
Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. ( 10916682 )
2000
17
Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. ( 11196750 )
2000
18
Towards enzyme-replacement treatment in triosephosphate isomerase deficiency. ( 10209987 )
1999
19
The feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency (review). ( 9850739 )
1998
20
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. ( 9842650 )
1998
21
Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency. ( 9294216 )
1997
22
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. ( 9338582 )
1997
23
Prenatal diagnosis of triosephosphate isomerase deficiency. ( 8639817 )
1996
24
Triosephosphate isomerase deficiency: predictions and facts. ( 8944178 )
1996
25
Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. ( 7485100 )
1995
26
Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. ( 7628118 )
1995
27
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. ( 8503454 )
1993
28
Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity. ( 1959537 )
1991
29
Platelet function defect in triosephosphate isomerase deficiency. ( 2946631 )
1986
30
Human triosephosphate isomerase cDNA and protein structure. Studies of triosephosphate isomerase deficiency in man. ( 2579079 )
1985
31
Neurological findings in triosephosphate isomerase deficiency. ( 4004168 )
1985
32
Triosephosphate isomerase deficiency: 2 new cases. ( 4012221 )
1985
33
Triosephosphate isomerase deficiency. A case report with neuropathological findings. ( 7114003 )
1982
34
Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants. ( 7155666 )
1982
35
Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain. ( 669702 )
1978
36
Modification in a screening test for triosephosphate isomerase deficiency. ( 4639873 )
1972
37
Electrophoretic abnormality in triosephosphate isomerase deficiency. ( 5665870 )
1968
38
HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. ( 14242501 )
1965

Variations for Triosephosphate Isomerase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Triosephosphate Isomerase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 TPI1 p.Cys79Tyr VAR_007534 rs121964848
2 TPI1 p.Gly110Ala VAR_007535
3 TPI1 p.Glu142Asp VAR_007536 rs121964845
4 TPI1 p.Val192Met VAR_007538 rs188138723
5 TPI1 p.Ile208Val VAR_007539 rs121964849
6 TPI1 p.Val269Met VAR_007540
7 TPI1 p.Phe278Leu VAR_007541 rs121964847

ClinVar genetic disease variations for Triosephosphate Isomerase Deficiency:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPI1 NM_001159287.1(TPI1): c.426G> C (p.Glu142Asp) single nucleotide variant Pathogenic rs121964845 GRCh37 Chromosome 12, 6978338: 6978338
2 TPI1 NM_001159287.1(TPI1): c.426G> C (p.Glu142Asp) single nucleotide variant Pathogenic rs121964845 GRCh38 Chromosome 12, 6869174: 6869174
3 TPI1 NM_001159287.1(TPI1): c.832T> C (p.Phe278Leu) single nucleotide variant Pathogenic rs121964847 GRCh37 Chromosome 12, 6979518: 6979518
4 TPI1 NM_001159287.1(TPI1): c.832T> C (p.Phe278Leu) single nucleotide variant Pathogenic rs121964847 GRCh38 Chromosome 12, 6870354: 6870354
5 TPI1 NM_001159287.1(TPI1): c.236G> A (p.Cys79Tyr) single nucleotide variant Pathogenic rs121964848 GRCh37 Chromosome 12, 6978037: 6978037
6 TPI1 NM_001159287.1(TPI1): c.236G> A (p.Cys79Tyr) single nucleotide variant Pathogenic rs121964848 GRCh38 Chromosome 12, 6868873: 6868873
7 TPI1 NM_001159287.1(TPI1): c.622A> G (p.Ile208Val) single nucleotide variant Pathogenic rs121964849 GRCh37 Chromosome 12, 6978905: 6978905
8 TPI1 NM_001159287.1(TPI1): c.622A> G (p.Ile208Val) single nucleotide variant Pathogenic rs121964849 GRCh38 Chromosome 12, 6869741: 6869741
9 TPI1 NM_001159287.1(TPI1): c.547G> T (p.Glu183Ter) single nucleotide variant Pathogenic rs121964850 GRCh37 Chromosome 12, 6978533: 6978533
10 TPI1 NM_001159287.1(TPI1): c.547G> T (p.Glu183Ter) single nucleotide variant Pathogenic rs121964850 GRCh38 Chromosome 12, 6869369: 6869369
11 TPI1 NM_001159287.1(TPI1): c.833T> C (p.Phe278Ser) single nucleotide variant Pathogenic rs587777440 GRCh37 Chromosome 12, 6979519: 6979519
12 TPI1 NM_001159287.1(TPI1): c.833T> C (p.Phe278Ser) single nucleotide variant Pathogenic rs587777440 GRCh38 Chromosome 12, 6870355: 6870355
13 TPI1 NM_001159287.1(TPI1): c.143dupG (p.Asn49Lysfs) duplication Pathogenic rs587777441 GRCh37 Chromosome 12, 6976762: 6976762
14 TPI1 NM_001159287.1(TPI1): c.143dupG (p.Asn49Lysfs) duplication Pathogenic rs587777441 GRCh38 Chromosome 12, 6867598: 6867598
15 TPI1 NM_000365.5(TPI1): c.239+8C> A single nucleotide variant Uncertain significance rs782359362 GRCh38 Chromosome 12, 6868995: 6868995
16 TPI1 NM_000365.5(TPI1): c.239+8C> A single nucleotide variant Uncertain significance rs782359362 GRCh37 Chromosome 12, 6978159: 6978159
17 TPI1 NM_000365.5(TPI1): c.544-14G> A single nucleotide variant Likely benign rs72661109 GRCh38 Chromosome 12, 6870035: 6870035
18 TPI1 NM_000365.5(TPI1): c.544-14G> A single nucleotide variant Likely benign rs72661109 GRCh37 Chromosome 12, 6979199: 6979199
19 TPI1 NM_000365.5(TPI1): c.631+13G> A single nucleotide variant Likely benign rs60115912 GRCh38 Chromosome 12, 6870149: 6870149
20 TPI1 NM_000365.5(TPI1): c.631+13G> A single nucleotide variant Likely benign rs60115912 GRCh37 Chromosome 12, 6979313: 6979313
21 TPI1 NM_000365.5(TPI1): c.*178G> A single nucleotide variant Uncertain significance rs144171030 GRCh38 Chromosome 12, 6870561: 6870561
22 TPI1 NM_000365.5(TPI1): c.*178G> A single nucleotide variant Uncertain significance rs144171030 GRCh37 Chromosome 12, 6979725: 6979725
23 TPI1 NM_000365.5(TPI1): c.*341C> T single nucleotide variant Benign rs1804544 GRCh38 Chromosome 12, 6870724: 6870724
24 TPI1 NM_000365.5(TPI1): c.*341C> T single nucleotide variant Benign rs1804544 GRCh37 Chromosome 12, 6979888: 6979888
25 TPI1 NM_000365.5(TPI1): c.*542_*544delCAA deletion Uncertain significance rs886049812 GRCh38 Chromosome 12, 6870925: 6870927
26 TPI1 NM_000365.5(TPI1): c.*542_*544delCAA deletion Uncertain significance rs886049812 GRCh37 Chromosome 12, 6980089: 6980091
27 TPI1 NM_000365.5(TPI1): c.543+6C> T single nucleotide variant Uncertain significance rs369693539 GRCh38 Chromosome 12, 6869779: 6869779
28 TPI1 NM_000365.5(TPI1): c.543+6C> T single nucleotide variant Uncertain significance rs369693539 GRCh37 Chromosome 12, 6978943: 6978943
29 TPI1 NM_000365.5(TPI1): c.544-10C> G single nucleotide variant Likely benign rs115061797 GRCh38 Chromosome 12, 6870039: 6870039
30 TPI1 NM_000365.5(TPI1): c.544-10C> G single nucleotide variant Likely benign rs115061797 GRCh37 Chromosome 12, 6979203: 6979203
31 TPI1 NM_000365.5(TPI1): c.*69C> T single nucleotide variant Uncertain significance rs782061169 GRCh38 Chromosome 12, 6870452: 6870452
32 TPI1 NM_000365.5(TPI1): c.*69C> T single nucleotide variant Uncertain significance rs782061169 GRCh37 Chromosome 12, 6979616: 6979616
33 TPI1 NM_000365.5(TPI1): c.*239C> T single nucleotide variant Uncertain significance rs886049811 GRCh38 Chromosome 12, 6870622: 6870622
34 TPI1 NM_000365.5(TPI1): c.*239C> T single nucleotide variant Uncertain significance rs886049811 GRCh37 Chromosome 12, 6979786: 6979786
35 TPI1 NM_000365.5(TPI1): c.*420T> C single nucleotide variant Benign rs58194764 GRCh38 Chromosome 12, 6870803: 6870803
36 TPI1 NM_000365.5(TPI1): c.*420T> C single nucleotide variant Benign rs58194764 GRCh37 Chromosome 12, 6979967: 6979967
37 TPI1 NM_000365.5(TPI1): c.*541dupA duplication Uncertain significance rs201871949 GRCh38 Chromosome 12, 6870924: 6870924
38 TPI1 NM_000365.5(TPI1): c.*541dupA duplication Uncertain significance rs201871949 GRCh37 Chromosome 12, 6980088: 6980088
39 TPI1 NM_000365.5(TPI1): c.*260G> A single nucleotide variant Uncertain significance rs782764628 GRCh38 Chromosome 12, 6870643: 6870643
40 TPI1 NM_000365.5(TPI1): c.*260G> A single nucleotide variant Uncertain significance rs782764628 GRCh37 Chromosome 12, 6979807: 6979807
41 TPI1 NM_000365.5(TPI1): c.-29C> T single nucleotide variant Uncertain significance rs181882616 GRCh38 Chromosome 12, 6867538: 6867538
42 TPI1 NM_000365.5(TPI1): c.-29C> T single nucleotide variant Uncertain significance rs181882616 GRCh37 Chromosome 12, 6976702: 6976702
43 TPI1 NM_000365.5(TPI1): c.-11G> A single nucleotide variant Uncertain significance rs199634350 GRCh38 Chromosome 12, 6867556: 6867556
44 TPI1 NM_000365.5(TPI1): c.-11G> A single nucleotide variant Uncertain significance rs199634350 GRCh37 Chromosome 12, 6976720: 6976720
45 TPI1 NM_000365.5(TPI1): c.261C> T (p.Cys87=) single nucleotide variant Uncertain significance rs370863694 GRCh38 Chromosome 12, 6869120: 6869120
46 TPI1 NM_000365.5(TPI1): c.261C> T (p.Cys87=) single nucleotide variant Uncertain significance rs370863694 GRCh37 Chromosome 12, 6978284: 6978284
47 TPI1 NM_000365.5(TPI1): c.321T> C (p.Asp107=) single nucleotide variant Likely benign rs141972556 GRCh38 Chromosome 12, 6869180: 6869180
48 TPI1 NM_000365.5(TPI1): c.321T> C (p.Asp107=) single nucleotide variant Likely benign rs141972556 GRCh37 Chromosome 12, 6978344: 6978344
49 TPI1 NM_000365.5(TPI1): c.543+5C> G single nucleotide variant Uncertain significance rs782153322 GRCh38 Chromosome 12, 6869778: 6869778
50 TPI1 NM_000365.5(TPI1): c.543+5C> G single nucleotide variant Uncertain significance rs782153322 GRCh37 Chromosome 12, 6978942: 6978942

Expression for Triosephosphate Isomerase Deficiency

Search GEO for disease gene expression data for Triosephosphate Isomerase Deficiency.

Pathways for Triosephosphate Isomerase Deficiency

Pathways related to Triosephosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 CALM1 CALM2 CALM3 CTSA GLO1 TPI1
2
Show member pathways
13.29 CALM1 CALM2 CALM3 CTSA SPSB2
3
Show member pathways
12.74 CALM1 CALM2 CALM3 TPI1
4
Show member pathways
12.67 CALM1 CALM2 CALM3
5
Show member pathways
12.59 CALM1 CALM2 CALM3
6
Show member pathways
12.59 CALM1 CALM2 CALM3
7
Show member pathways
12.59 CALM1 CALM2 CALM3
8
Show member pathways
12.58 CALM1 CALM2 CALM3
9
Show member pathways
12.57 CALM1 CALM2 CALM3
10
Show member pathways
12.53 CALM1 CALM2 CALM3
11
Show member pathways
12.53 CALM1 CALM2 CALM3
12
Show member pathways
12.53 CALM1 CALM2 CALM3 TPI1
13
Show member pathways
12.51 CALM1 CALM2 CALM3 TPI1
14
Show member pathways
12.5 CALM1 CALM2 CALM3
15
Show member pathways
12.48 CALM1 CALM2 CALM3
16
Show member pathways
12.47 CALM1 CALM2 CALM3
17
Show member pathways
12.46 CALM1 CALM2 CALM3
18
Show member pathways
12.44 CALM1 CALM2 CALM3
19
Show member pathways
12.43 CALM1 CALM2 CALM3
20
Show member pathways
12.42 CALM1 CALM2 CALM3
21
Show member pathways
12.41 CALM1 CALM2 CALM3
22
Show member pathways
12.39 CALM1 CALM2 CALM3
23
Show member pathways
12.34 CALM1 CALM2 CALM3
24
Show member pathways
12.34 CALM1 CALM2 CALM3
25
Show member pathways
12.33 CALM1 CALM2 CALM3
26
Show member pathways
12.32 CALM1 CALM2 CALM3
27
Show member pathways
12.32 CALM1 CALM2 CALM3
28
Show member pathways
12.3 CALM1 CALM2 CALM3
29
Show member pathways
12.29 CALM1 CALM2 CALM3
30
Show member pathways
12.28 CALM1 CALM2 CALM3
31 12.27 CALM1 CALM2 CALM3
32
Show member pathways
12.26 CALM1 CALM2 CALM3
33
Show member pathways
12.25 CALM1 CALM2 CALM3
34
Show member pathways
12.23 CALM1 CALM2 CALM3
35
Show member pathways
12.23 CALM1 CALM2 CALM3
36
Show member pathways
12.23 CALM1 CALM2 CALM3
37
Show member pathways
12.22 CALM1 CALM2 CALM3
38
Show member pathways
12.2 CALM1 CALM2 CALM3
39
Show member pathways
12.17 CALM1 CALM2 CALM3
40
Show member pathways
12.16 CALM1 CALM2 CALM3
41
Show member pathways
12.14 CALM1 CALM2 CALM3
42 12.13 CALM1 CALM2 CALM3
43
Show member pathways
12.12 CALM1 CALM2 CALM3
44
Show member pathways
12.11 CALM1 CALM2 CALM3
45
Show member pathways
12.09 CALM1 CALM2 CALM3
46
Show member pathways
12.09 CALM1 CALM2 CALM3
47
Show member pathways
12.07 CALM1 CALM2 CALM3
48 12.07 CALM1 CALM2 CALM3
49
Show member pathways
12.06 CALM1 CALM2 CALM3
50
Show member pathways
12.03 CALM1 CALM2 CALM3

GO Terms for Triosephosphate Isomerase Deficiency

Cellular components related to Triosephosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.61 CALM1 CALM2 CALM3
2 vesicle GO:0031982 9.58 CALM1 CALM2 CALM3
3 myelin sheath GO:0043209 9.54 CALM1 CALM2 CALM3
4 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
5 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
6 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
7 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
8 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

Biological processes related to Triosephosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.77 CALM1 CALM2 CALM3
2 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
4 substantia nigra development GO:0021762 9.75 CALM1 CALM2 CALM3
5 regulation of cytokinesis GO:0032465 9.74 CALM1 CALM2 CALM3
6 regulation of heart rate GO:0002027 9.72 CALM1 CALM2 CALM3
7 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
9 positive regulation of protein autophosphorylation GO:0031954 9.69 CALM1 CALM2 CALM3
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 CALM1 CALM2 CALM3
11 regulation of synaptic vesicle exocytosis GO:2000300 9.65 CALM1 CALM3
12 response to amphetamine GO:0001975 9.65 CALM1 CALM3
13 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.65 CALM1 CALM2 CALM3
14 activation of adenylate cyclase activity GO:0007190 9.64 CALM1 CALM3
15 positive regulation of DNA binding GO:0043388 9.64 CALM2 CALM3
16 positive regulation of nitric-oxide synthase activity GO:0051000 9.63 CALM1 CALM3
17 response to corticosterone GO:0051412 9.63 CALM1 CALM3
18 regulation of cardiac muscle contraction GO:0055117 9.63 CALM1 CALM2 CALM3
19 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.62 CALM1 CALM3
20 regulation of synaptic vesicle endocytosis GO:1900242 9.62 CALM1 CALM3
21 establishment of protein localization to membrane GO:0090150 9.61 CALM1 CALM3
22 regulation of high voltage-gated calcium channel activity GO:1901841 9.61 CALM1 CALM3
23 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
24 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.58 CALM1 CALM2 CALM3
25 establishment of protein localization to mitochondrial membrane GO:0090151 9.56 CALM1 CALM3
26 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
28 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
29 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
30 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
31 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 8.8 CALM1 CALM2 CALM3

Molecular functions related to Triosephosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.72 CALM1 CALM2 CALM3
2 ion channel binding GO:0044325 9.65 CALM1 CALM2 CALM3
3 disordered domain specific binding GO:0097718 9.58 CALM1 CALM2 CALM3
4 calcium-dependent protein binding GO:0048306 9.56 CALM1 CALM3
5 enzyme regulator activity GO:0030234 9.54 CALM1 CALM3
6 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
7 phosphatidylinositol 3-kinase binding GO:0043548 9.52 CALM1 CALM3
8 nitric-oxide synthase binding GO:0050998 9.51 CALM1 CALM3
9 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
10 calcium channel inhibitor activity GO:0019855 9.49 CALM1 CALM2
11 nitric-oxide synthase regulator activity GO:0030235 9.46 CALM1 CALM3
12 type 3 metabotropic glutamate receptor binding GO:0031800 9.43 CALM1 CALM3
13 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
14 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
15 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
16 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Triosephosphate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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