ITPAD
MCID: INS015
MIFTS: 22

Inosine Triphosphatase Deficiency (ITPAD)

Categories: Genetic diseases

Aliases & Classifications for Inosine Triphosphatase Deficiency

MalaCards integrated aliases for Inosine Triphosphatase Deficiency:

Name: Inosine Triphosphatase Deficiency 57 29 6 40 72
Inosine Triphosphate Pyrophosphohydrolase Deficiency 57 74
Itpad 74

Classifications:



External Ids:

OMIM 57 613850
MeSH 44 D008661
UMLS 72 C0342800

Summaries for Inosine Triphosphatase Deficiency

UniProtKB/Swiss-Prot : 74 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 severe combined immunodeficiency. An important gene associated with Inosine Triphosphatase Deficiency is ITPA (Inosine Triphosphatase). Affiliated tissues include kidney.

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 10.3
2 severe combined immunodeficiency 10.3
3 combined t cell and b cell immunodeficiency 10.3
4 hepatitis c 10.1

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

MalaCards organs/tissues related to Inosine Triphosphatase Deficiency:

41
Kidney

Publications for Inosine Triphosphatase Deficiency

Articles related to Inosine Triphosphatase Deficiency:

(show all 16)
# Title Authors PMID Year
1
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. 38 8 71
12384777 2002
2
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. 38 71
12436200 2002
3
Functional study of the P32T ITPA variant associated with drug sensitivity in humans. 71
19631656 2009
4
Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. 71
11278832 2001
5
Individual variation in inosine triphosphate accumulation in human erythrocytes. 8
1204209 1975
6
ITP pyrophosphohydrolase and IDP phosphohydrolase in rat tissue. 8
170291 1975
7
Genetic studies of human erythrocyte inosine triphosphatase. 8
4376397 1969
8
Personalized Whole-Cell Kinetic Models of Metabolism for Discovery in Genomics and Pharmacodynamics. 38
27136057 2015
9
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy. 38
24304455 2013
10
[Genetic polymorphisms as predictors of response to antiviral treatment in chronic hepatitis C virus infection]. 38
21565755 2011
11
Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients. 38
19682085 2010
12
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. 38
20173735 2010
13
Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. 38
17138556 2007
14
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. 38
15946879 2005
15
A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. 38
15243983 2004
16
Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency. 38
2167185 1990

Variations for Inosine Triphosphatase Deficiency

ClinVar genetic disease variations for Inosine Triphosphatase Deficiency:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ITPA NM_033453.4(ITPA): c.304C> T (p.Gln102Ter) single nucleotide variant Pathogenic rs1227149616 20:3199171-3199171 20:3218525-3218525
2 ITPA NC_000020.10: g.(?_3190178)_(3190283_?)del deletion Pathogenic 20:3190178-3190283 20:3209532-3209637
3 ITPA NM_033453.4(ITPA): c.270del (p.Trp90fs) deletion Pathogenic rs1381781375 20:3195933-3195933 20:3215287-3215287
4 ITPA NM_033453.4(ITPA): c.70dup (p.Val24fs) duplication Pathogenic 20:3193818-3193818 20:3213172-3213172
5 ITPA NM_033453.4(ITPA): c.124+1G> A single nucleotide variant Likely pathogenic 20:3193873-3193873 20:3213227-3213227
6 ITPA NM_033453.4(ITPA): c.124+21A> C single nucleotide variant drug response rs7270101 20:3193893-3193893 20:3213247-3213247
7 ITPA NM_033453.4(ITPA): c.94C> A (p.Pro32Thr) single nucleotide variant drug response rs1127354 20:3193842-3193842 20:3213196-3213196
8 ITPA NM_033453.4(ITPA): c.452G> A (p.Trp151Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200086262 20:3202527-3202527 20:3221881-3221881
9 ITPA NM_033453.4(ITPA): c.128C> T (p.Pro43Leu) single nucleotide variant Uncertain significance 20:3193968-3193968 20:3213322-3213322
10 ITPA NM_033453.4(ITPA): c.403C> T (p.Arg135Trp) single nucleotide variant Uncertain significance 20:3199270-3199270 20:3218624-3218624
11 ITPA NM_033453.4(ITPA): c.170G> A (p.Cys57Tyr) single nucleotide variant Uncertain significance 20:3194010-3194010 20:3213364-3213364
12 ITPA NM_033453.4(ITPA): c.184C> T (p.Arg62Cys) single nucleotide variant Uncertain significance 20:3194024-3194024 20:3213378-3213378
13 ITPA NM_033453.4(ITPA): c.383C> T (p.Pro128Leu) single nucleotide variant Uncertain significance rs780479868 20:3199250-3199250 20:3218604-3218604
14 ITPA NM_033453.4(ITPA): c.411+6T> C single nucleotide variant Uncertain significance 20:3199284-3199284 20:3218638-3218638
15 ITPA NM_033453.4(ITPA): c.316G> A (p.Gly106Arg) single nucleotide variant Uncertain significance rs202194282 20:3199183-3199183 20:3218537-3218537
16 ITPA NM_033453.4(ITPA): c.397A> G (p.Arg133Gly) single nucleotide variant Uncertain significance 20:3199264-3199264 20:3218618-3218618
17 ITPA NM_033453.4(ITPA): c.508G> A (p.Ala170Thr) single nucleotide variant Uncertain significance 20:3204031-3204031 20:3223385-3223385
18 ITPA NM_033453.4(ITPA): c.57_58delinsAA (p.Leu20Met) indel Uncertain significance 20:3190254-3190255 20:3209608-3209609
19 ITPA NM_033453.4(ITPA): c.259T> G (p.Tyr87Asp) single nucleotide variant Uncertain significance 20:3194700-3194700 20:3214054-3214054
20 ITPA NM_033453.4(ITPA): c.294A> C (p.Glu98Asp) single nucleotide variant Uncertain significance 20:3195957-3195957 20:3215311-3215311
21 ITPA NM_033453.4(ITPA): c.509C> T (p.Ala170Val) single nucleotide variant Uncertain significance 20:3204032-3204032 20:3223386-3223386
22 ITPA NM_033453.4(ITPA): c.523G> C (p.Val175Leu) single nucleotide variant Uncertain significance 20:3204046-3204046 20:3223400-3223400
23 ITPA NC_000020.10: g.(?_3190178)_(3604448_?)dup duplication Uncertain significance 20:3190178-3604448 :0-0
24 ITPA NM_033453.4(ITPA): c.411+5G> A single nucleotide variant Uncertain significance 20:3199283-3199283 20:3218637-3218637
25 ITPA NM_033453.4(ITPA): c.411+5G> C single nucleotide variant Uncertain significance 20:3199283-3199283 20:3218637-3218637
26 ITPA NM_033453.4(ITPA): c.363C> A (p.Ser121Arg) single nucleotide variant Uncertain significance rs765934653 20:3199230-3199230 20:3218584-3218584
27 ITPA NM_033453.4(ITPA): c.101C> A (p.Thr34Asn) single nucleotide variant Uncertain significance rs773947334 20:3193849-3193849 20:3213203-3213203
28 ITPA NM_033453.4(ITPA): c.520G> A (p.Ala174Thr) single nucleotide variant Uncertain significance rs747784107 20:3204043-3204043 20:3223397-3223397
29 ITPA NM_033453.4(ITPA): c.415C> T (p.Arg139Trp) single nucleotide variant Uncertain significance rs1329748108 20:3202490-3202490 20:3221844-3221844
30 ITPA NM_033453.4(ITPA): c.66+5C> T single nucleotide variant Uncertain significance rs367746086 20:3190268-3190268 20:3209622-3209622
31 ITPA NM_033453.4(ITPA): c.117A> C (p.Lys39Asn) single nucleotide variant Uncertain significance rs538432614 20:3193865-3193865 20:3213219-3213219
32 ITPA NM_033453.4(ITPA): c.165G> C (p.Gln55His) single nucleotide variant Uncertain significance rs1555773628 20:3194005-3194005 20:3213359-3213359
33 ITPA NM_033453.4(ITPA): c.306G> C (p.Gln102His) single nucleotide variant Uncertain significance rs939527021 20:3199173-3199173 20:3218527-3218527
34 ITPA NM_033453.4(ITPA): c.388C> T (p.Arg130Cys) single nucleotide variant Uncertain significance rs578227905 20:3199255-3199255 20:3218609-3218609
35 ITPA NM_033453.4(ITPA): c.190G> T (p.Val64Leu) single nucleotide variant Uncertain significance rs760868571 20:3194631-3194631 20:3213985-3213985
36 ITPA NM_033453.4(ITPA): c.316G> C (p.Gly106Arg) single nucleotide variant Uncertain significance rs202194282 20:3199183-3199183 20:3218537-3218537
37 ITPA NM_033453.4(ITPA): c.488C> T (p.Thr163Met) single nucleotide variant Uncertain significance rs758706191 20:3202563-3202563 20:3221917-3221917
38 ITPA NM_033453.4(ITPA): c.521C> T (p.Ala174Val) single nucleotide variant Uncertain significance rs148875609 20:3204044-3204044 20:3223398-3223398
39 ITPA NM_033453.4(ITPA): c.567T> C (p.Phe189=) single nucleotide variant Likely benign rs183325660 20:3204090-3204090 20:3223444-3223444
40 ITPA NM_033453.4(ITPA): c.124C> T (p.Leu42=) single nucleotide variant Likely benign rs142574480 20:3193872-3193872 20:3213226-3213226
41 ITPA NM_033453.4(ITPA): c.96A> G (p.Pro32=) single nucleotide variant Likely benign rs144682597 20:3193844-3193844 20:3213198-3213198
42 ITPA NM_033453.4(ITPA): c.129G> T (p.Pro43=) single nucleotide variant Likely benign rs146112146 20:3193969-3193969 20:3213323-3213323
43 ITPA NM_033453.4(ITPA): c.366C> T (p.Thr122=) single nucleotide variant Likely benign rs1358256041 20:3199233-3199233 20:3218587-3218587
44 ITPA NM_033453.4(ITPA): c.126G> A (p.Leu42=) single nucleotide variant Likely benign rs1555773611 20:3193966-3193966 20:3213320-3213320
45 ITPA NM_033453.3(ITPA): c.67-12_67-8delCTCTT deletion Likely benign rs771313305 20:3193803-3193807 20:3213157-3213161
46 ITPA NM_033453.4(ITPA): c.159C> T (p.Ser53=) single nucleotide variant Likely benign rs939381685 20:3193999-3193999 20:3213353-3213353
47 ITPA NM_033453.4(ITPA): c.510G> A (p.Ala170=) single nucleotide variant Likely benign rs374703513 20:3204033-3204033 20:3223387-3223387
48 ITPA NM_033453.4(ITPA): c.278A> G (p.Glu93Gly) single nucleotide variant Benign/Likely benign rs34982958 20:3195941-3195941 20:3215295-3215295
49 ITPA NM_033453.4(ITPA): c.233A> G (p.Asn78Ser) single nucleotide variant Benign rs150904363 20:3194674-3194674 20:3214028-3214028
50 ITPA NM_033453.4(ITPA): c.291T> G (p.Pro97=) single nucleotide variant Benign rs145329644 20:3195954-3195954 20:3215308-3215308

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

74
# Symbol AA change Variation ID SNP ID
1 ITPA p.Pro32Thr VAR_015576 rs1127354

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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