MCID: INS015
MIFTS: 15

Inosine Triphosphatase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Inosine Triphosphatase Deficiency

MalaCards integrated aliases for Inosine Triphosphatase Deficiency:

Name: Inosine Triphosphatase Deficiency 57 29 6 40 73
Inosine Triphosphate Pyrophosphohydrolase Deficiency 57 75
Itpad 75

Classifications:



External Ids:

OMIM 57 613850
MeSH 44 D008661
UMLS 73 C0342800

Summaries for Inosine Triphosphatase Deficiency

UniProtKB/Swiss-Prot : 75 Inosine triphosphate pyrophosphohydrolase deficiency: A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs.

MalaCards based summary : Inosine Triphosphatase Deficiency, also known as inosine triphosphate pyrophosphohydrolase deficiency, is related to adenosine deaminase deficiency and hepatitis. An important gene associated with Inosine Triphosphatase Deficiency is ITPA (Inosine Triphosphatase).

OMIM : 57 Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002). (613850)

Related Diseases for Inosine Triphosphatase Deficiency

Diseases related to Inosine Triphosphatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adenosine deaminase deficiency 10.2
2 hepatitis 10.0
3 hepatitis c 10.0

Symptoms & Phenotypes for Inosine Triphosphatase Deficiency

Clinical features from OMIM:

613850

Drugs & Therapeutics for Inosine Triphosphatase Deficiency

Search Clinical Trials , NIH Clinical Center for Inosine Triphosphatase Deficiency

Genetic Tests for Inosine Triphosphatase Deficiency

Genetic tests related to Inosine Triphosphatase Deficiency:

# Genetic test Affiliating Genes
1 Inosine Triphosphatase Deficiency 29 ITPA

Anatomical Context for Inosine Triphosphatase Deficiency

Publications for Inosine Triphosphatase Deficiency

Articles related to Inosine Triphosphatase Deficiency:

# Title Authors Year
1
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy. ( 24304455 )
2013
2
Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. ( 17138556 )
2007
3
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. ( 12436200 )
2002

Variations for Inosine Triphosphatase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Inosine Triphosphatase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 ITPA p.Pro32Thr VAR_015576 rs1127354

ClinVar genetic disease variations for Inosine Triphosphatase Deficiency:

6
(show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITPA NM_033453.3(ITPA): c.94C> A (p.Pro32Thr) single nucleotide variant drug response rs1127354 GRCh37 Chromosome 20, 3193842: 3193842
2 ITPA NM_033453.3(ITPA): c.94C> A (p.Pro32Thr) single nucleotide variant drug response rs1127354 GRCh38 Chromosome 20, 3213196: 3213196
3 ITPA NM_033453.3(ITPA): c.124+21A> C single nucleotide variant drug response rs7270101 GRCh37 Chromosome 20, 3193893: 3193893
4 ITPA NM_033453.3(ITPA): c.124+21A> C single nucleotide variant drug response rs7270101 GRCh38 Chromosome 20, 3213247: 3213247
5 ITPA NM_033453.3(ITPA): c.452G> A (p.Trp151Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200086262 GRCh38 Chromosome 20, 3221881: 3221881
6 ITPA NM_033453.3(ITPA): c.452G> A (p.Trp151Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200086262 GRCh37 Chromosome 20, 3202527: 3202527
7 ITPA NM_033453.3(ITPA): c.383C> T (p.Pro128Leu) single nucleotide variant Uncertain significance rs780479868 GRCh37 Chromosome 20, 3199250: 3199250
8 ITPA NM_033453.3(ITPA): c.383C> T (p.Pro128Leu) single nucleotide variant Uncertain significance rs780479868 GRCh38 Chromosome 20, 3218604: 3218604
9 ITPA NM_033453.3(ITPA): c.488C> T (p.Thr163Met) single nucleotide variant Uncertain significance rs758706191 GRCh37 Chromosome 20, 3202563: 3202563
10 ITPA NM_033453.3(ITPA): c.488C> T (p.Thr163Met) single nucleotide variant Uncertain significance rs758706191 GRCh38 Chromosome 20, 3221917: 3221917
11 ITPA NM_033453.3(ITPA): c.278A> G (p.Glu93Gly) single nucleotide variant Benign/Likely benign rs34982958 GRCh38 Chromosome 20, 3215295: 3215295
12 ITPA NM_033453.3(ITPA): c.278A> G (p.Glu93Gly) single nucleotide variant Benign/Likely benign rs34982958 GRCh37 Chromosome 20, 3195941: 3195941
13 ITPA NM_033453.3(ITPA): c.96A> G (p.Pro32=) single nucleotide variant Likely benign rs144682597 GRCh38 Chromosome 20, 3213198: 3213198
14 ITPA NM_033453.3(ITPA): c.96A> G (p.Pro32=) single nucleotide variant Likely benign rs144682597 GRCh37 Chromosome 20, 3193844: 3193844
15 ITPA NM_033453.3(ITPA): c.129G> T (p.Pro43=) single nucleotide variant Likely benign rs146112146 GRCh37 Chromosome 20, 3193969: 3193969
16 ITPA NM_033453.3(ITPA): c.129G> T (p.Pro43=) single nucleotide variant Likely benign rs146112146 GRCh38 Chromosome 20, 3213323: 3213323
17 ITPA NM_033453.3(ITPA): c.233A> G (p.Asn78Ser) single nucleotide variant Benign rs150904363 GRCh37 Chromosome 20, 3194674: 3194674
18 ITPA NM_033453.3(ITPA): c.233A> G (p.Asn78Ser) single nucleotide variant Benign rs150904363 GRCh38 Chromosome 20, 3214028: 3214028
19 ITPA NM_033453.3(ITPA): c.291T> G (p.Pro97=) single nucleotide variant Benign rs145329644 GRCh37 Chromosome 20, 3195954: 3195954
20 ITPA NM_033453.3(ITPA): c.291T> G (p.Pro97=) single nucleotide variant Benign rs145329644 GRCh38 Chromosome 20, 3215308: 3215308
21 ITPA NM_033453.3(ITPA): c.366C> T (p.Thr122=) single nucleotide variant Likely benign GRCh37 Chromosome 20, 3199233: 3199233
22 ITPA NM_033453.3(ITPA): c.366C> T (p.Thr122=) single nucleotide variant Likely benign GRCh38 Chromosome 20, 3218587: 3218587
23 ITPA NM_033453.3(ITPA): c.521C> T (p.Ala174Val) single nucleotide variant Uncertain significance rs148875609 GRCh37 Chromosome 20, 3204044: 3204044
24 ITPA NM_033453.3(ITPA): c.521C> T (p.Ala174Val) single nucleotide variant Uncertain significance rs148875609 GRCh38 Chromosome 20, 3223398: 3223398
25 ITPA NM_033453.3(ITPA): c.567T> C (p.Phe189=) single nucleotide variant Likely benign rs183325660 GRCh37 Chromosome 20, 3204090: 3204090
26 ITPA NM_033453.3(ITPA): c.567T> C (p.Phe189=) single nucleotide variant Likely benign rs183325660 GRCh38 Chromosome 20, 3223444: 3223444
27 ITPA NM_033453.3(ITPA): c.124C> T (p.Leu42=) single nucleotide variant Likely benign rs142574480 GRCh37 Chromosome 20, 3193872: 3193872
28 ITPA NM_033453.3(ITPA): c.124C> T (p.Leu42=) single nucleotide variant Likely benign rs142574480 GRCh38 Chromosome 20, 3213226: 3213226
29 ITPA NM_033453.3(ITPA): c.304C> T (p.Gln102Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 3199171: 3199171
30 ITPA NM_033453.3(ITPA): c.304C> T (p.Gln102Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 3218525: 3218525
31 ITPA NM_033453.3(ITPA): c.315C> T (p.Ala105=) single nucleotide variant Benign rs114819623 GRCh37 Chromosome 20, 3199182: 3199182
32 ITPA NM_033453.3(ITPA): c.315C> T (p.Ala105=) single nucleotide variant Benign rs114819623 GRCh38 Chromosome 20, 3218536: 3218536
33 ITPA NM_033453.3(ITPA): c.316G> C (p.Gly106Arg) single nucleotide variant Uncertain significance rs202194282 GRCh38 Chromosome 20, 3218537: 3218537
34 ITPA NM_033453.3(ITPA): c.316G> C (p.Gly106Arg) single nucleotide variant Uncertain significance rs202194282 GRCh37 Chromosome 20, 3199183: 3199183
35 ITPA NC_000020.11: g.(?_3209532)_(3209637_?)del deletion Pathogenic GRCh37 Chromosome 20, 3190178: 3190283
36 ITPA NC_000020.11: g.(?_3209532)_(3209637_?)del deletion Pathogenic GRCh38 Chromosome 20, 3209532: 3209637
37 ITPA NM_033453.3(ITPA): c.165G> C (p.Gln55His) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 3194005: 3194005
38 ITPA NM_033453.3(ITPA): c.165G> C (p.Gln55His) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 3213359: 3213359
39 ITPA NM_033453.3(ITPA): c.306G> C (p.Gln102His) single nucleotide variant Uncertain significance rs939527021 GRCh38 Chromosome 20, 3218527: 3218527
40 ITPA NM_033453.3(ITPA): c.306G> C (p.Gln102His) single nucleotide variant Uncertain significance rs939527021 GRCh37 Chromosome 20, 3199173: 3199173
41 ITPA NM_033453.3(ITPA): c.388C> T (p.Arg130Cys) single nucleotide variant Uncertain significance rs578227905 GRCh37 Chromosome 20, 3199255: 3199255
42 ITPA NM_033453.3(ITPA): c.388C> T (p.Arg130Cys) single nucleotide variant Uncertain significance rs578227905 GRCh38 Chromosome 20, 3218609: 3218609
43 ITPA NM_033453.3(ITPA): c.190G> T (p.Val64Leu) single nucleotide variant Uncertain significance rs760868571 GRCh38 Chromosome 20, 3213985: 3213985
44 ITPA NM_033453.3(ITPA): c.190G> T (p.Val64Leu) single nucleotide variant Uncertain significance rs760868571 GRCh37 Chromosome 20, 3194631: 3194631
45 ITPA NM_033453.3(ITPA): c.270delG (p.Trp90Cysfs) deletion Pathogenic GRCh38 Chromosome 20, 3215287: 3215287
46 ITPA NM_033453.3(ITPA): c.270delG (p.Trp90Cysfs) deletion Pathogenic GRCh37 Chromosome 20, 3195933: 3195933
47 ITPA NM_033453.3(ITPA): c.363C> A (p.Ser121Arg) single nucleotide variant Uncertain significance rs765934653 GRCh38 Chromosome 20, 3218584: 3218584
48 ITPA NM_033453.3(ITPA): c.363C> A (p.Ser121Arg) single nucleotide variant Uncertain significance rs765934653 GRCh37 Chromosome 20, 3199230: 3199230
49 ITPA NM_033453.3(ITPA): c.510G> A (p.Ala170=) single nucleotide variant Likely benign rs374703513 GRCh38 Chromosome 20, 3223387: 3223387
50 ITPA NM_033453.3(ITPA): c.510G> A (p.Ala170=) single nucleotide variant Likely benign rs374703513 GRCh37 Chromosome 20, 3204033: 3204033

Expression for Inosine Triphosphatase Deficiency

Search GEO for disease gene expression data for Inosine Triphosphatase Deficiency.

Pathways for Inosine Triphosphatase Deficiency

GO Terms for Inosine Triphosphatase Deficiency

Sources for Inosine Triphosphatase 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
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36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
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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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