TPID
MCID: TRS021
MIFTS: 44

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 56 12 74 52 25 73 29 6 15 39 71
Triose Phosphate-Isomerase Deficiency 12 52 58
Tpid 56 25 73
Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 56 73
Triose Phosphate Isomerase Deficiency 25 71
Tpi Deficiency 52 25
Hereditary Nonspherocytic Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 25
Deficiency of Phosphotriose Isomerase 25

Characteristics:

Orphanet epidemiological data:

58
triose phosphate-isomerase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
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:

31
triosephosphate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Triosephosphate Isomerase Deficiency

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. The anemia in this condition begins in infancy. Since the anemia results from the premature breakdown of red blood cells (hemolysis), it is known as hemolytic anemia. A shortage of red blood cells to carry oxygen throughout the body leads to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. When the red cells are broken down, iron and a molecule called bilirubin are released; individuals with triosephosphate isomerase deficiency have an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice, which is a yellowing of the skin and the whites of the eyes. Movement problems typically become apparent by age 2 in people with triosephosphate isomerase deficiency. The movement problems are caused by impairment of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may also develop seizures. Weakness of other muscles, such as the heart (a condition known as cardiomyopathy) and the muscle that separates the abdomen from the chest cavity (the diaphragm) can also occur in triosephosphate isomerase deficiency. Diaphragm weakness can cause breathing problems and ultimately leads to respiratory failure. Individuals with triosephosphate isomerase deficiency are at increased risk of developing infections because they have poorly functioning white blood cells. These immune system cells normally recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The most common infections in people with triosephosphate isomerase deficiency are bacterial infections of the respiratory tract. People with triosephosphate isomerase deficiency often do not survive past childhood due to respiratory failure. In a few rare cases, affected individuals without severe nerve damage or muscle weakness have lived into adulthood.

MalaCards based summary : Triosephosphate Isomerase Deficiency, also known as triose phosphate-isomerase deficiency, is related to hemolytic anemia and deficiency anemia, and has symptoms including tremor, icterus and muscle spasticity. An important gene associated with Triosephosphate Isomerase Deficiency is TPI1 (Triosephosphate Isomerase 1), and among its related pathways/superpathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Pyruvate metabolism. Affiliated tissues include heart, eye and skin, and related phenotypes are muscular hypotonia and skeletal muscle atrophy

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 73 Triosephosphate isomerase deficiency: An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.

Wikipedia : 74 Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was... 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 41)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.8
2 congenital hemolytic anemia 10.4
3 deficiency anemia 10.4
4 disorder of glycolysis 10.4
5 autosomal recessive disease 10.4
6 hypoalphalipoproteinemia 10.3
7 congenital nonspherocytic hemolytic anemia 10.3
8 hypotonia 10.3
9 syphilis 10.3
10 tremor 10.1
11 spasticity 10.1
12 encephalopathy 10.1
13 pathologic nystagmus 10.1
14 neuropathy 10.1
15 axonal neuropathy 10.1
16 mitochondrial myopathy 10.1
17 inherited metabolic disorder 10.1
18 peripheral nervous system disease 10.1
19 neuromuscular disease 10.1
20 myopathy 10.1
21 respiratory failure 10.1
22 bacterial infectious disease 10.1
23 abdominal obesity-metabolic syndrome 1 10.1
24 erythroleukemia, familial 10.1
25 atrial standstill 1 10.1
26 cataract 28 10.0 TPI1 CRYAA
27 cataract 9, multiple types 9.9 CRYBB1 CRYAA
28 early-onset lamellar cataract 9.9 CRYBA4 CRYAA
29 microphthalmia, isolated 1 9.9 CRYBB1 CRYBA4
30 porencephaly 9.8 CRYBA4 CRYAA
31 lens subluxation 9.7 CRYBA4 CRYAA
32 cataract 24 9.6 CRYBB3 CRYAA
33 cataract microcornea syndrome 9.6 CRYBB1 CRYBA4 CRYAA
34 aniridia 1 9.6 CRYBB1 CRYBA4 CRYAA
35 lens disease 9.6 CRYBB1 CRYBA4 CRYAA
36 ocular hypertension 9.6 TXN2 CRYAA
37 early-onset nuclear cataract 9.4 CRYBB3 CRYBB1 CRYAA
38 cataract 16, multiple types 9.0 CRYBB3 CRYBB1 CRYBA4 CRYAA
39 cataract 9.0 CRYBB3 CRYBB1 CRYBA4 CRYAA
40 nance-horan syndrome 9.0 CRYBB3 CRYBB1 CRYBA4 CRYAA
41 amblyopia 9.0 CRYBB3 CRYBB1 CRYBA4 CRYAA

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



Diseases related to Triosephosphate Isomerase Deficiency

Symptoms & Phenotypes for Triosephosphate Isomerase Deficiency

Human phenotypes related to Triosephosphate Isomerase Deficiency:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
3 abnormality of immune system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010978
4 central nervous system degeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0007009
5 diaphragmatic paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006597
6 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
7 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
8 optic disc pallor 31 occasional (7.5%) HP:0000543
9 spasticity 31 HP:0001257
10 tremor 31 HP:0001337
11 kyphosis 31 HP:0002808
12 global developmental delay 31 HP:0001263
13 splenomegaly 31 HP:0001744
14 myopathy 31 HP:0003198
15 respiratory insufficiency due to muscle weakness 31 HP:0002747
16 generalized hypotonia 31 HP:0001290
17 peripheral neuropathy 31 HP:0009830
18 congestive heart failure 31 HP:0001635
19 dystonia 31 HP:0001332
20 cholelithiasis 31 HP:0001081
21 jaundice 31 HP:0000952
22 chronic hemolytic anemia 31 HP:0004870
23 hyporeflexia 31 HP:0001265
24 cholecystitis 31 HP:0001082
25 progressive muscle weakness 31 HP:0003323
26 unsteady gait 31 HP:0002317
27 normocytic anemia 31 HP:0001897
28 normochromic anemia 31 HP:0001895

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Triosephosphate Isomerase Deficiency:


tremor, icterus, muscle spasticity, abnormal pyramidal signs

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

Anatomical Context for Triosephosphate Isomerase Deficiency

MalaCards organs/tissues related to Triosephosphate Isomerase Deficiency:

40
Heart, Eye, Skin, Brain, Spinal Cord, Skeletal Muscle, Testes

Publications for Triosephosphate Isomerase Deficiency

Articles related to Triosephosphate Isomerase Deficiency:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Towards enzyme-replacement treatment in triosephosphate isomerase deficiency. 61 6 56
10209987 1999
2
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 56 6 61
9338582 1997
3
Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. 56 6 61
7628118 1995
4
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 6 61 56
8503454 1993
5
Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene. 56 6
20374271 2010
6
Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. 56 6
11698297 2001
7
Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms. 6 56
8244340 1993
8
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 6 56
2876430 1986
9
Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface. 6 61
18562316 2008
10
Triosephosphate isomerase deficiency: facts and doubts. 61 56
17424909 2006
11
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. 61 56
1959537 1991
12
Neurological findings in triosephosphate isomerase deficiency. 61 56
4004168 1985
13
Triosephosphate isomerase deficiency: 2 new cases. 56 61
4012221 1985
14
Triosephosphate isomerase deficiency. A case report with neuropathological findings. 61 56
7114003 1982
15
Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain. 56 61
669702 1978
16
HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. 56 61
14242501 1965
17
Reversal of metabolic block in glycolysis by enzyme replacement in triosephosphate isomerase-deficient cells. 56
10556207 1999
18
Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. 56
8571957 1996
19
Prenatal diagnosis of triose phosphate isomerase deficiency. 56
1967698 1990
20
Characterization of triosephosphate isomerase mutants with reduced enzyme activity in Mus musculus. 56
2693209 1989
21
Prenatal diagnosis of a red-cell enzymopathy: triose phosphate isomerase deficiency. 56
2569601 1989
22
Hereditary triose phosphate isomerase deficiency: seven new homozygous cases. 56
4065896 1985
23
Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany--a study of 3000 people. 56
6381286 1984
24
Frequency of enzyme deficiency variants in erythrocytes of newborn infants. 56
6946452 1981
25
Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency. 61
31111503 2019
26
Implications of the mitochondrial interactome of mammalian thioredoxin 2 for normal cellular function and disease. 61
31018154 2019
27
Strong correlation between doppler snuffbox resistive index and systemic vascular resistance in septic patients. 61
30366249 2019
28
Medical and Veterinary Importance of the Moonlighting Functions of Triosephosphate Isomerase. 61
30370845 2019
29
Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency. 61
29571745 2018
30
Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics. 61
27031109 2016
31
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency. 61
24840153 2014
32
Reappraisal of triosephosphate isomerase deficiency. 61
20546019 2011
33
Triosephosphate isomerase deficiency: a patient with Val231Met mutation. 61
21215915 2011
34
Triosephosphate isomerase deficiency: new insights into an enigmatic disease. 61
19786097 2009
35
In vitro nonenzymatic glycation of guanosine 5'-triphosphate by dihydroxyacetone phosphate. 61
18791706 2008
36
Measurement of cardiac output: a comparison between transpulmonary thermodilution and uncalibrated pulse contour analysis. 61
17611251 2007
37
Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency. 61
17879449 2007
38
Drosophila model of human inherited triosephosphate isomerase deficiency glycolytic enzymopathy. 61
16980388 2006
39
Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels. 61
16086671 2005
40
Volumetric monitoring: principles of application. 61
15886592 2005
41
Chronic axonal neuropathy with triosephosphate isomerase deficiency. 61
14984912 2004
42
Using Rasch models to reveal contours of teachers' knowledge. 61
15243172 2004
43
Increased formation of methylglyoxal and protein glycation, oxidation and nitrosation in triosephosphate isomerase deficiency. 61
14559119 2003
44
Cardiac output determination in children: equivalence of the transpulmonary thermodilution method to the direct Fick principle. 61
12122535 2002
45
Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain. 61
11940494 2002
46
Triosephosphate isomerase deficiency: a neurodegenerative misfolding disease. 61
12023819 2002
47
Comparison of cardiac output and circulatory blood volumes by transpulmonary thermo-dye dilution and transcutaneous indocyanine green measurement in critically ill patients. 61
11834672 2002
48
Metabolic cardiomyopathies. 61
11298185 2000
49
Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. 61
11196750 2000
50
Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. 61
10916682 2000

Variations for Triosephosphate Isomerase Deficiency

ClinVar genetic disease variations for Triosephosphate Isomerase Deficiency:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TPI1 NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp)SNV Pathogenic 12468 rs121964845 12:6978338-6978338 12:6869174-6869174
2 TPI1 NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu)SNV Pathogenic 12470 rs121964847 12:6979518-6979518 12:6870354-6870354
3 TPI1 NM_001258026.1(TPI1):c.-122G>ASNV Pathogenic 12471 rs121964848 12:6978037-6978037 12:6868873-6868873
4 TPI1 NM_001159287.1(TPI1):c.622A>G (p.Ile208Val)SNV Pathogenic 12472 rs121964849 12:6978905-6978905 12:6869741-6869741
5 TPI1 NM_001159287.1(TPI1):c.547G>T (p.Glu183Ter)SNV Pathogenic 12473 rs121964850 12:6978533-6978533 12:6869369-6869369
6 TPI1 NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser)SNV Pathogenic 136172 rs587777440 12:6979519-6979519 12:6870355-6870355
7 TPI1 NM_001159287.1(TPI1):c.143dup (p.Asn49fs)duplication Pathogenic 136173 rs587777441 12:6976762-6976762 12:6867598-6867598
8 TPI1 NM_001159287.1(TPI1):c.680G>A (p.Arg227Gln)SNV Pathogenic 627563 rs1565538350 12:6979238-6979238 12:6870074-6870074
9 TPI1 NM_001159287.1(TPI1):c.728G>A (p.Arg243His)SNV Uncertain significance 634548 rs782417309 12:6979286-6979286 12:6870122-6870122
10 TPI1 NM_001159287.1(TPI1):c.654+5C>GSNV Uncertain significance 310361 rs782153322 12:6978942-6978942 12:6869778-6869778
11 TPI1 NM_001159287.1(TPI1):c.*541dupduplication Uncertain significance 310372 rs201871949 12:6980088-6980088 12:6870924-6870924
12 TPI1 NM_001159287.1(TPI1):c.*260G>ASNV Uncertain significance 310369 rs782764628 12:6979807-6979807 12:6870643-6870643
13 TPI1 NM_001159287.1(TPI1):c.83C>T (p.Thr28Ile)SNV Uncertain significance 310356 rs181882616 12:6976702-6976702 12:6867538-6867538
14 TPI1 NM_001159287.1(TPI1):c.101G>A (p.Gly34Asp)SNV Uncertain significance 310357 rs199634350 12:6976720-6976720 12:6867556-6867556
15 TPI1 NM_001159287.1(TPI1):c.372C>T (p.Cys124=)SNV Uncertain significance 310359 rs370863694 12:6978284-6978284 12:6869120-6869120
16 TPI1 NM_001159287.1(TPI1):c.350+8C>ASNV Uncertain significance 310358 rs782359362 12:6978159-6978159 12:6868995-6868995
17 TPI1 NM_001159287.1(TPI1):c.*178G>ASNV Uncertain significance 310367 rs144171030 12:6979725-6979725 12:6870561-6870561
18 TPI1 NM_001159287.1(TPI1):c.*542_*544deldeletion Uncertain significance 310373 rs782559646 12:6980089-6980091 12:6870925-6870927
19 TPI1 NM_001159287.1(TPI1):c.654+6C>TSNV Uncertain significance 310362 rs369693539 12:6978943-6978943 12:6869779-6869779
20 TPI1 NM_001159287.1(TPI1):c.*69C>TSNV Uncertain significance 310366 rs782061169 12:6979616-6979616 12:6870452-6870452
21 TPI1 NM_001159287.1(TPI1):c.*239C>TSNV Uncertain significance 310368 rs886049811 12:6979786-6979786 12:6870622-6870622
22 TPI1 NM_001159287.1(TPI1):c.655-10C>GSNV Likely benign 310364 rs115061797 12:6979203-6979203 12:6870039-6870039
23 TPI1 NM_001159287.1(TPI1):c.655-14G>ASNV Likely benign 310363 rs72661109 12:6979199-6979199 12:6870035-6870035
24 TPI1 NM_001159287.1(TPI1):c.742+13G>ASNV Likely benign 310365 rs60115912 12:6979313-6979313 12:6870149-6870149
25 TPI1 NM_001159287.1(TPI1):c.432T>C (p.Asp144=)SNV Likely benign 310360 rs141972556 12:6978344-6978344 12:6869180-6869180
26 TPI1 NM_001159287.1(TPI1):c.66G>A (p.Pro22=)SNV Likely benign 369026 rs1800201 12:6976685-6976685 12:6867521-6867521
27 TPI1 NM_001159287.1(TPI1):c.69A>G (p.Arg23=)SNV Benign 369027 rs1800200 12:6976688-6976688 12:6867524-6867524
28 TPI1 NM_001159287.1(TPI1):c.*341C>TSNV Benign 310370 rs1804544 12:6979888-6979888 12:6870724-6870724
29 TPI1 NM_001159287.1(TPI1):c.*420T>CSNV Benign 310371 rs58194764 12:6979967-6979967 12:6870803-6870803

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

73
# 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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.07 LDHB GLO1
2
Show member pathways
10.25 LDHB GLO1

GO Terms for Triosephosphate Isomerase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.26 CRYBB3 CRYBB1 CRYBA4 CRYAA
2 pyruvate metabolic process GO:0006090 9.16 LDHB GLO1
3 lens development in camera-type eye GO:0002088 8.8 CRYBB3 CRYBB1 CRYBA4

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.92 CRYBB3 CRYBB1 CRYBA4 CRYAA

Sources for Triosephosphate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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