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ITPAD
MCID: INS015
MIFTS: 22

Inosine Triphosphatase Deficiency (ITPAD)

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Inosine Triphosphatase Deficiency

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MalaCards integrated aliases for Inosine Triphosphatase Deficiency:

Name: Inosine Triphosphatase Deficiency 57 29 6 39 71
Inosine Triphosphate Pyrophosphohydrolase Deficiency 57 73
Itpad 73

Classifications:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 613850
MeSH 44 D008661
UMLS 71 C0342800
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Summaries for Inosine Triphosphatase Deficiency

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UniProtKB/Swiss-Prot : 73 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 combined immunodeficiency and adenosine deaminase deficiency. 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) (Updated 05-Mar-2021)

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Related Diseases for Inosine Triphosphatase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 combined immunodeficiency 10.3
2 adenosine deaminase deficiency 10.3
3 severe combined immunodeficiency 10.3
4 hepatitis c 10.1

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Symptoms & Phenotypes for Inosine Triphosphatase Deficiency

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Clinical features from OMIM®:

613850 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Inosine Triphosphatase Deficiency

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Search Clinical Trials , NIH Clinical Center for Inosine Triphosphatase Deficiency

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Genetic Tests for Inosine Triphosphatase Deficiency

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Genetic tests related to Inosine Triphosphatase Deficiency:

# Genetic test Affiliating Genes
1 Inosine Triphosphatase Deficiency 29 ITPA
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Anatomical Context for Inosine Triphosphatase Deficiency

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MalaCards organs/tissues related to Inosine Triphosphatase Deficiency:

40
Kidney
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Publications for Inosine Triphosphatase Deficiency

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Articles related to Inosine Triphosphatase Deficiency:

(show all 16)
# Title Authors PMID Year
1
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. 6 57 61
12384777 2002
2
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. 6 61
12436200 2002
3
Functional study of the P32T ITPA variant associated with drug sensitivity in humans. 6
19631656 2009
4
Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. 6
11278832 2001
5
Individual variation in inosine triphosphate accumulation in human erythrocytes. 57
1204209 1975
6
ITP pyrophosphohydrolase and IDP phosphohydrolase in rat tissue. 57
170291 1975
7
Genetic studies of human erythrocyte inosine triphosphatase. 57
4376397 1969
8
Personalized Whole-Cell Kinetic Models of Metabolism for Discovery in Genomics and Pharmacodynamics. 61
27136057 2015
9
Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy. 61
24304455 2013
10
[Genetic polymorphisms as predictors of response to antiviral treatment in chronic hepatitis C virus infection]. 61
21565755 2011
11
Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients. 61
19682085 2010
12
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. 61
20173735 2010
13
Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. 61
17138556 2007
14
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. 61
15946879 2005
15
A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. 61
15243983 2004
16
Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency. 61
2167185 1990
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Variations for Inosine Triphosphatase Deficiency

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ClinVar genetic disease variations for Inosine Triphosphatase Deficiency:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITPA NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) SNV Affects 14746 rs1127354 20:3193842-3193842 20:3213196-3213196
2 ITPA NM_033453.4(ITPA):c.124+21A>C SNV Affects 14747 rs7270101 20:3193893-3193893 20:3213247-3213247
3 ITPA NM_033453.4(ITPA):c.304C>T (p.Gln102Ter) SNV Pathogenic 464831 rs1227149616 20:3199171-3199171 20:3218525-3218525
4 ITPA NM_033453.4(ITPA):c.270del (p.Trp90fs) Deletion Pathogenic 533413 rs1381781375 20:3195932-3195932 20:3215286-3215286
5 ITPA NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) SNV Pathogenic 218089 rs200086262 20:3202527-3202527 20:3221881-3221881
6 ITPA NC_000020.11:g.(?_3209532)_(3209637_?)del Deletion Pathogenic 533428 20:3190178-3190283 20:3209532-3209637
7 ITPA NM_033453.4(ITPA):c.124+2T>C SNV Pathogenic 804162 rs1408254396 20:3193874-3193874 20:3213228-3213228
8 ITPA NM_033453.4(ITPA):c.488+1G>A SNV Pathogenic 804163 rs1380443187 20:3202564-3202564 20:3221918-3221918
9 ITPA NM_033453.4(ITPA):c.70dup (p.Val24fs) Duplication Pathogenic 580951 rs1568509937 20:3193817-3193818 20:3213171-3213172
10 ITPA NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) Duplication Pathogenic 218091 rs1407446171 20:3199224-3199225 20:3218578-3218579
11 ITPA NM_033453.4(ITPA):c.264-1G>C SNV Likely pathogenic 940510 20:3195926-3195926 20:3215280-3215280
12 ITPA NM_033453.4(ITPA):c.124+1G>A SNV Likely pathogenic 646228 rs376142053 20:3193873-3193873 20:3213227-3213227
13 ITPA NM_033453.4(ITPA):c.411+5G>C SNV Uncertain significance 646756 rs1299283367 20:3199283-3199283 20:3218637-3218637
14 ITPA NM_033453.4(ITPA):c.411+6T>C SNV Uncertain significance 653173 rs1339641819 20:3199284-3199284 20:3218638-3218638
15 ITPA NM_033453.4(ITPA):c.411+5G>A SNV Uncertain significance 657778 rs1299283367 20:3199283-3199283 20:3218637-3218637
16 ITPA NM_033453.4(ITPA):c.523G>C (p.Val175Leu) SNV Uncertain significance 660271 rs1600541745 20:3204046-3204046 20:3223400-3223400
17 ITPA NM_033453.4(ITPA):c.57_58delinsAA (p.Leu20Met) Indel Uncertain significance 661793 rs1600488749 20:3190254-3190255 20:3209608-3209609
18 ITPA NM_033453.4(ITPA):c.294A>C (p.Glu98Asp) SNV Uncertain significance 664794 rs763279021 20:3195957-3195957 20:3215311-3215311
19 ITPA NM_033453.4(ITPA):c.101C>A (p.Thr34Asn) SNV Uncertain significance 533421 rs773947334 20:3193849-3193849 20:3213203-3213203
20 ITPA NM_033453.4(ITPA):c.316G>A (p.Gly106Arg) SNV Uncertain significance 533422 rs202194282 20:3199183-3199183 20:3218537-3218537
21 ITPA NM_033453.4(ITPA):c.388C>T (p.Arg130Cys) SNV Uncertain significance 533423 rs578227905 20:3199255-3199255 20:3218609-3218609
22 ITPA NM_033453.4(ITPA):c.383C>T (p.Pro128Leu) SNV Uncertain significance 423919 rs780479868 20:3199250-3199250 20:3218604-3218604
23 ITPA NM_033453.4(ITPA):c.66+5C>T SNV Uncertain significance 533424 rs367746086 20:3190268-3190268 20:3209622-3209622
24 ITPA NM_033453.4(ITPA):c.190G>T (p.Val64Leu) SNV Uncertain significance 533415 rs760868571 20:3194631-3194631 20:3213985-3213985
25 ITPA NM_033453.4(ITPA):c.415C>T (p.Arg139Trp) SNV Uncertain significance 533416 rs1329748108 20:3202490-3202490 20:3221844-3221844
26 ITPA NM_033453.4(ITPA):c.520G>A (p.Ala174Thr) SNV Uncertain significance 533417 rs747784107 20:3204043-3204043 20:3223397-3223397
27 ITPA NM_033453.4(ITPA):c.165G>C (p.Gln55His) SNV Uncertain significance 533418 rs1555773628 20:3194005-3194005 20:3213359-3213359
28 ITPA NM_033453.4(ITPA):c.306G>C (p.Gln102His) SNV Uncertain significance 533419 rs939527021 20:3199173-3199173 20:3218527-3218527
29 ITPA NM_033453.4(ITPA):c.363C>A (p.Ser121Arg) SNV Uncertain significance 533420 rs765934653 20:3199230-3199230 20:3218584-3218584
30 ITPA NM_033453.4(ITPA):c.521C>T (p.Ala174Val) SNV Uncertain significance 464835 rs148875609 20:3204044-3204044 20:3223398-3223398
31 ITPA NM_033453.4(ITPA):c.117A>C (p.Lys39Asn) SNV Uncertain significance 533412 rs538432614 20:3193865-3193865 20:3213219-3213219
32 ITPA NM_033453.4(ITPA):c.488C>T (p.Thr163Met) SNV Uncertain significance 431714 rs758706191 20:3202563-3202563 20:3221917-3221917
33 ITPA NM_033453.4(ITPA):c.316G>C (p.Gly106Arg) SNV Uncertain significance 464833 rs202194282 20:3199183-3199183 20:3218537-3218537
34 ITPA NM_033453.4(ITPA):c.70G>A (p.Val24Ile) SNV Uncertain significance 943399 20:3193818-3193818 20:3213172-3213172
35 ITPA NM_033453.4(ITPA):c.416G>A (p.Arg139Gln) SNV Uncertain significance 946360 20:3202491-3202491 20:3221845-3221845
36 ITPA NM_033453.4(ITPA):c.577_584dup (p.Ter195TrpextTer?) Duplication Uncertain significance 954136 20:3204096-3204097 20:3223450-3223451
37 ITPA NM_033453.4(ITPA):c.458C>A (p.Pro153His) SNV Uncertain significance 961106 20:3202533-3202533 20:3221887-3221887
38 ITPA NM_033453.4(ITPA):c.513G>C (p.Glu171Asp) SNV Uncertain significance 963397 20:3204036-3204036 20:3223390-3223390
39 ATRN NC_000020.10:g.(?_3190178)_(3604448_?)dup Duplication Uncertain significance 653521 20:3190178-3604448
40 ITPA NM_033453.4(ITPA):c.509C>T (p.Ala170Val) SNV Uncertain significance 640079 rs551976639 20:3204032-3204032 20:3223386-3223386
41 ITPA NM_033453.4(ITPA):c.259T>G (p.Tyr87Asp) SNV Uncertain significance 645704 rs969131963 20:3194700-3194700 20:3214054-3214054
42 ITPA NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) SNV Uncertain significance 218090 rs746930990 20:3204055-3204055 20:3223409-3223409
43 ITPA NM_033453.4(ITPA):c.422T>G (p.Val141Gly) SNV Uncertain significance 937737 20:3202497-3202497 20:3221851-3221851
44 ITPA NM_033453.4(ITPA):c.206T>C (p.Leu69Pro) SNV Uncertain significance 840766 20:3194647-3194647 20:3214001-3214001
45 ITPA NM_033453.4(ITPA):c.1A>G (p.Met1Val) SNV Uncertain significance 847991 20:3190198-3190198 20:3209552-3209552
46 ITPA NM_033453.4(ITPA):c.100A>G (p.Thr34Ala) SNV Uncertain significance 854570 20:3193848-3193848 20:3213202-3213202
47 ITPA NM_033453.4(ITPA):c.146C>T (p.Pro49Leu) SNV Uncertain significance 860292 20:3193986-3193986 20:3213340-3213340
48 ITPA NM_033453.4(ITPA):c.66G>A (p.Glu22=) SNV Uncertain significance 860492 20:3190263-3190263 20:3209617-3209617
49 ITPA NM_033453.4(ITPA):c.124+5G>A SNV Uncertain significance 860575 20:3193877-3193877 20:3213231-3213231
50 ITPA NM_033453.4(ITPA):c.170G>A (p.Cys57Tyr) SNV Uncertain significance 568056 rs138760860 20:3194010-3194010 20:3213364-3213364

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

73
# Symbol AA change Variation ID SNP ID
1 ITPA p.Pro32Thr VAR_015576 rs1127354

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Expression for Inosine Triphosphatase Deficiency

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

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GO Terms for Inosine Triphosphatase Deficiency

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Sources for Inosine Triphosphatase Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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