MCID: HML015
MIFTS: 46

Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

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

Aliases & Classifications for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

MalaCards integrated aliases for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency:

Name: Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 54 71
Triosephosphate Isomerase Deficiency 12 50 24 25 71 29 14 69
Triose Phosphate-Isomerase Deficiency 12 50 56
Triose Phosphate Isomerase Deficiency 25 69
Tpi Deficiency 50 25
Tpid 25 71
Hereditary Nonspherocytic Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 25
Deficiency of Phosphotriose Isomerase 25

Characteristics:

Orphanet epidemiological data:

56
triose phosphate-isomerase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
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
hemolytic anemia due to triosephosphate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

NIH Rare Diseases : 50 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.  last updated: 11/4/2016

MalaCards based summary : Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency, also known as triosephosphate isomerase deficiency, is related to hemolytic anemia and myopathy, and has symptoms including hypertrophic cardiomyopathy, muscular hypotonia and decreased nerve conduction velocity. An important gene associated with Hemolytic Anemia Due to 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 phenotype is Decreased Hepatitis C Virus pseudoparticles (HCVpp.

UniProtKB/Swiss-Prot : 71 Triosephosphate isomerase deficiency: An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.

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 : 54
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)

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

Related Diseases for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.1
2 myopathy 9.9
3 congenital hemolytic anemia 9.9
4 axonal neuropathy 9.9
5 neuropathy 9.9
6 hypotonia 9.9
7 encephalomalacia 9.4 CALM1 CALM3
8 subclavian steal syndrome 9.2 CALM1 CALM2 CALM3
9 long qt syndrome 15 9.2 CALM1 CALM2 CALM3
10 epidural spinal canal meningioma 9.2 CALM1 CALM2 CALM3
11 heterotaxy, visceral, 8, autosomal 9.2 CALM1 CALM2 CALM3
12 mononeuritis of lower limb 9.2 CALM1 CALM2 CALM3
13 pontiac fever 9.2 CALM1 CALM2 CALM3
14 regular astigmatism 9.2 CALM1 CALM2 CALM3
15 dumping syndrome 9.2 CALM1 CALM2 CALM3
16 bulimia nervosa, age of onset of weight loss in 9.2 CALM1 CALM2 CALM3
17 leber congenital amaurosis 2 9.2 CALM1 CALM2 CALM3
18 alkhurma hemorrhagic fever 9.1 CALM1 CALM2 CALM3
19 cardiomyopathy, dilated, 1a 9.1 CALM1 CALM2 CALM3
20 cardiomyopathy, hypertrophic, 18 9.1 CALM1 CALM2 CALM3
21 partial of retinal vein occlusion 9.1 CALM1 CALM2 CALM3
22 plantar fasciitis 9.1 CALM1 CALM2 CALM3
23 deafness, autosomal dominant 2a 9.1 CALM1 CALM2 CALM3
24 lymphocytic choriomeningitis 9.0 CALM1 CALM2 CALM3
25 hypochromic microcytic anemia 9.0 CALM1 CALM2 CALM3
26 pigment dispersion syndrome 8.9 CALM1 CALM2 CALM3
27 umbilical hernia 8.9 CALM1 CALM2 CALM3
28 jervell and lange-nielsen syndrome 8.8 CALM1 CALM2 CALM3
29 hairy cell leukemia 8.6 CALM1 CALM2 CALM3
30 pseudohypoaldosteronism, type iic 8.3 CALM1 CALM2 CALM3 CTSA TPI1

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



Diseases related to Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

Symptoms & Phenotypes for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
dystonia
tremor
spasticity
gait instability
more
Neurologic- Peripheral Nervous System:
hyporeflexia
peripheral neuropathy

Skeletal- Spine:
kyphosis

Respiratory:
respiratory insufficiency due to muscle weakness

Immunology:
increased susceptibility to infections

Muscle Soft Tissue:
hypotonia
muscle atrophy
muscle weakness, progressive

Skin Nails & Hair- Skin:
jaundice

Hematology:
hemolytic anemia, chronic

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

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 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
2 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 decreased nerve conduction velocity 56 32 occasional (7.5%) Occasional (29-5%) HP:0000762
4 central nervous system degeneration 56 32 hallmark (90%) Very frequent (99-80%) HP:0007009
5 diaphragmatic paralysis 56 32 frequent (33%) Frequent (79-30%) HP:0006597
6 skeletal muscle atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 abnormality of immune system physiology 56 32 hallmark (90%) Very frequent (99-80%) HP:0010978
8 dystonia 32 HP:0001332
9 tremor 32 HP:0001337
10 hyporeflexia 32 HP:0001265
11 spasticity 32 HP:0001257
12 splenomegaly 32 HP:0001744
13 jaundice 32 HP:0000952
14 unsteady gait 32 HP:0002317
15 peripheral neuropathy 32 HP:0009830
16 kyphosis 32 HP:0002808
17 global developmental delay 32 HP:0001263
18 optic disc pallor 32 occasional (7.5%) HP:0000543
19 myopathy 32 HP:0003198
20 hemolytic anemia 32 HP:0001878
21 cholelithiasis 32 HP:0001081
22 cholecystitis 32 HP:0001082
23 congestive heart failure 32 HP:0001635
24 respiratory insufficiency due to muscle weakness 32 HP:0002747
25 chronic hemolytic anemia 32 HP:0004870
26 normochromic anemia 32 HP:0001895
27 normocytic anemia 32 HP:0001897
28 progressive muscle weakness 32 HP:0003323

UMLS symptoms related to Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency:


icterus, muscle spasticity, tremor, abnormal pyramidal signs

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp GR00234-A-1 8.62 CALM2 CALM3

Drugs & Therapeutics for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

Genetic Tests for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

Genetic tests related to Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency:

id Genetic test Affiliating Genes
1 Triosephosphate Isomerase Deficiency 29 24 TPI1

Anatomical Context for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

MalaCards organs/tissues related to Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency:

39
Heart, Skin, Eye, Skeletal Muscle

Publications for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

Variations for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency:

71
id 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 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency:

6
id 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.832T> C (p.Phe278Leu) single nucleotide variant Pathogenic rs121964847 GRCh37 Chromosome 12, 6979518: 6979518
3 TPI1 NM_001159287.1(TPI1): c.236G> A (p.Cys79Tyr) single nucleotide variant Pathogenic rs121964848 GRCh37 Chromosome 12, 6978037: 6978037
4 TPI1 NM_001159287.1(TPI1): c.622A> G (p.Ile208Val) single nucleotide variant Pathogenic rs121964849 GRCh37 Chromosome 12, 6978905: 6978905
5 TPI1 NM_001159287.1(TPI1): c.547G> T (p.Glu183Ter) single nucleotide variant Pathogenic rs121964850 GRCh37 Chromosome 12, 6978533: 6978533
6 TPI1 NM_001159287.1(TPI1): c.833T> C (p.Phe278Ser) single nucleotide variant Pathogenic rs587777440 GRCh37 Chromosome 12, 6979519: 6979519
7 TPI1 NM_001159287.1(TPI1): c.143dupG (p.Asn49Lysfs) duplication Pathogenic rs587777441 GRCh37 Chromosome 12, 6976762: 6976762

Expression for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

Search GEO for disease gene expression data for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency.

Pathways for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

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

(show top 50) (show all 101)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 CALM1 CALM2 CALM3 CTSA TPI1
2
Show member pathways
13.25 CALM1 CALM2 CALM3 CTSA
3
Show member pathways
12.8 CALM1 CALM2 CALM3
4
Show member pathways
12.73 CALM1 CALM2 CALM3
5
Show member pathways
12.73 CALM1 CALM2 CALM3
6
Show member pathways
12.72 CALM1 CALM2 CALM3
7
Show member pathways
12.72 CALM1 CALM2 CALM3 TPI1
8
Show member pathways
12.71 CALM1 CALM2 CALM3
9
Show member pathways
12.71 CALM1 CALM2 CALM3
10
Show member pathways
12.7 CALM1 CALM2 CALM3
11
Show member pathways
12.7 CALM1 CALM2 CALM3
12
Show member pathways
12.69 CALM1 CALM2 CALM3
13
Show member pathways
12.67 CALM1 CALM2 CALM3
14
Show member pathways
12.67 CALM1 CALM2 CALM3
15
Show member pathways
12.64 CALM1 CALM2 CALM3
16
Show member pathways
12.62 CALM1 CALM2 CALM3
17
Show member pathways
12.61 CALM1 CALM2 CALM3
18
Show member pathways
12.58 CALM1 CALM2 CALM3
19
Show member pathways
12.58 CALM1 CALM2 CALM3
20
Show member pathways
12.55 CALM1 CALM2 CALM3
21
Show member pathways
12.52 CALM1 CALM2 CALM3
22
Show member pathways
12.49 CALM1 CALM2 CALM3
23
Show member pathways
12.49 CALM1 CALM2 CALM3 TPI1
24
Show member pathways
12.49 CALM1 CALM2 CALM3 TPI1
25
Show member pathways
12.47 CALM1 CALM2 CALM3
26
Show member pathways
12.46 CALM1 CALM2 CALM3
27
Show member pathways
12.45 CALM1 CALM2 CALM3
28
Show member pathways
12.42 CALM1 CALM2 CALM3
29
Show member pathways
12.42 CALM1 CALM2 CALM3
30
Show member pathways
12.41 CALM1 CALM2 CALM3
31
Show member pathways
12.4 CALM1 CALM2 CALM3
32
Show member pathways
12.33 CALM1 CALM2 CALM3
33
Show member pathways
12.33 CALM1 CALM2 CALM3
34
Show member pathways
12.31 CALM1 CALM2 CALM3
35
Show member pathways
12.31 CALM1 CALM2 CALM3
36
Show member pathways
12.31 CALM1 CALM2 CALM3
37
Show member pathways
12.29 CALM1 CALM2 CALM3
38
Show member pathways
12.29 CALM1 CALM2 CALM3
39
Show member pathways
12.28 CALM1 CALM2 CALM3
40
Show member pathways
12.26 CALM1 CALM2 CALM3
41 12.26 CALM1 CALM2 CALM3
42
Show member pathways
12.24 CALM1 CALM2 CALM3
43
Show member pathways
12.24 CALM1 CALM2 CALM3
44
Show member pathways
12.22 CALM1 CALM2 CALM3
45
Show member pathways
12.22 CALM1 CALM2 CALM3
46
Show member pathways
12.22 CALM1 CALM2 CALM3
47
Show member pathways
12.19 CALM1 CALM2 CALM3
48
Show member pathways
12.17 CALM1 CALM2 CALM3
49
Show member pathways
12.16 CALM1 CALM2 CALM3
50
Show member pathways
12.15 CALM1 CALM2 CALM3

GO Terms for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.43 CALM1 CALM2 CALM3
2 spindle pole GO:0000922 9.33 CALM1 CALM2 CALM3
3 sarcomere GO:0030017 9.13 CALM1 CALM2 CALM3
4 calcium channel complex GO:0034704 8.8 CALM1 CALM2 CALM3

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.74 CALM1 CALM2 CALM3
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.73 CALM1 CALM2 CALM3
3 regulation of heart rate GO:0002027 9.72 CALM1 CALM2 CALM3
4 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3
5 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.69 CALM1 CALM2 CALM3
7 positive regulation of protein autophosphorylation GO:0031954 9.67 CALM1 CALM2 CALM3
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.65 CALM1 CALM2 CALM3
9 regulation of cardiac muscle contraction GO:0055117 9.63 CALM1 CALM2 CALM3
10 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
11 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.58 CALM1 CALM2 CALM3
12 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
13 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
14 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
15 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
16 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
17 positive regulation of cyclic nucleotide metabolic process GO:0030801 8.8 CALM1 CALM2 CALM3

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.5 CALM1 CALM2 CALM3
2 ion channel binding GO:0044325 9.43 CALM1 CALM2 CALM3
3 protein serine/threonine kinase activator activity GO:0043539 9.33 CALM1 CALM2 CALM3
4 titin binding GO:0031432 9.13 CALM1 CALM2 CALM3
5 protein phosphatase activator activity GO:0072542 8.8 CALM1 CALM2 CALM3

Sources for Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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