Inosine Triphosphatase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Inosine Triphosphatase Deficiency

MalaCards integrated aliases for Inosine Triphosphatase Deficiency:

Name: Inosine Triphosphatase Deficiency ⁵⁶ ²⁹ ⁶ ³⁹ ⁷¹

Inosine Triphosphate Pyrophosphohydrolase Deficiency ⁵⁶ ⁷³

Susceptibility to Adverse Reaction Due to Mercaptopurine ⁵⁸

Itpad ⁷³

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 613850

MeSH ⁴³ D008661

Orphanet ⁵⁸ ORPHA284113

MedGen ⁴¹ C0342800 C1840173

UMLS ⁷¹ C0342800

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Summaries for Inosine Triphosphatase Deficiency

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 adenosine deaminase deficiency and severe combined immunodeficiency. An important gene associated with Inosine Triphosphatase Deficiency is ITPA (Inosine Triphosphatase). Affiliated tissues include kidney, t cells and b cells.

OMIM : ⁵⁶ 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)

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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
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

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Symptoms & Phenotypes for Inosine Triphosphatase Deficiency

Clinical features from OMIM:

613850

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Drugs & Therapeutics for Inosine Triphosphatase Deficiency

Search Clinical Trials , NIH Clinical Center for Inosine Triphosphatase Deficiency

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Genetic Tests for Inosine Triphosphatase Deficiency

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

MalaCards organs/tissues related to Inosine Triphosphatase Deficiency:

⁴⁰

Kidney, T Cells, B Cells

Sources

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. ⁶¹ ⁵⁶ ⁶	Sumi S...Duley JA	12384777	2002
2	DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. ⁶¹ ⁶	Cao H...Hegele RA	12436200	2002
3	Functional study of the P32T ITPA variant associated with drug sensitivity in humans. ⁶	Stepchenkova EI...Pavlov YI	19631656	2009
4	Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. ⁶	Lin S...Mao Y	11278832	2001
5	Individual variation in inosine triphosphate accumulation in human erythrocytes. ⁵⁶	Fraser JH...McCoy EE	1204209	1975
6	ITP pyrophosphohydrolase and IDP phosphohydrolase in rat tissue. ⁵⁶	Vanderheiden BS	170291	1975
7	Genetic studies of human erythrocyte inosine triphosphatase. ⁵⁶	Vanderheiden BS	4376397	1969
8	Personalized Whole-Cell Kinetic Models of Metabolism for Discovery in Genomics and Pharmacodynamics. ⁶¹	Bordbar A...Palsson BO	27136057	2015
9	Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy. ⁶¹	Clark PJ...Colombo M	24304455	2013
10	[Genetic polymorphisms as predictors of response to antiviral treatment in chronic hepatitis C virus infection]. ⁶¹	Par A	21565755	2011
11	Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients. ⁶¹	Xiong H...Yu AR	19682085	2010
12	ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. ⁶¹	Fellay J...Goldstein DB	20173735	2010
13	Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. ⁶¹	Stenmark P...Schuler H	17138556	2007
14	Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. ⁶¹	Maeda T...Togari H	15946879	2005
15	A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. ⁶¹	Sumi S...Togari H	15243983	2004
16	Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency. ⁶¹	Duley JA...Levinsky RJ	2167185	1990

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Genes for Inosine Triphosphatase Deficiency

Genes related to Inosine Triphosphatase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ITPA	Inosine Triphosphatase	Protein Coding	1419.41	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁶ Drug response ⁶ Orphanet ⁵⁸ GeneCards inferred via : Publications Variants (show sections)	11278832 19631656 12436200 (more) 12384777

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Variations for Inosine Triphosphatase Deficiency

ClinVar genetic disease variations for Inosine Triphosphatase Deficiency:

⁶ (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ITPA	NM_033453.4(ITPA):c.304C>T (p.Gln102Ter)	SNV	Pathogenic	464831	rs1227149616	20:3199171-3199171	20:3218525-3218525
2	ITPA	NC_000020.10:g.(?_3190178)_(3190283_?)del	deletion	Pathogenic	533428		20:3190178-3190283	20:3209532-3209637
3	ITPA	NM_033453.4(ITPA):c.70dup (p.Val24fs)	duplication	Pathogenic	580951	rs1568509937	20:3193817-3193818	20:3213171-3213172
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.124+2T>C	SNV	Pathogenic	804162		20:3193874-3193874	20:3213228-3213228
6	ITPA	NM_033453.4(ITPA):c.488+1G>A	SNV	Pathogenic	804163		20:3202564-3202564	20:3221918-3221918
7	ITPA	NM_033453.4(ITPA):c.124+1G>A	SNV	Likely pathogenic	646228		20:3193873-3193873	20:3213227-3213227
8	ITPA	NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)	SNV	drug response	14746	rs1127354	20:3193842-3193842	20:3213196-3213196
9	ITPA	NM_033453.4(ITPA):c.124+21A>C	SNV	drug response	14747	rs7270101	20:3193893-3193893	20:3213247-3213247
10	ITPA	NM_033453.4(ITPA):c.452G>A (p.Trp151Ter)	SNV	Conflicting interpretations of pathogenicity	218089	rs200086262	20:3202527-3202527	20:3221881-3221881
11	ITPA	NM_033453.4(ITPA):c.383C>T (p.Pro128Leu)	SNV	Uncertain significance	423919	rs780479868	20:3199250-3199250	20:3218604-3218604
12	ITPA	NM_033453.4(ITPA):c.488C>T (p.Thr163Met)	SNV	Uncertain significance	431714	rs758706191	20:3202563-3202563	20:3221917-3221917
13	ITPA	NM_033453.4(ITPA):c.316G>C (p.Gly106Arg)	SNV	Uncertain significance	464833	rs202194282	20:3199183-3199183	20:3218537-3218537
14	ITPA	NM_033453.4(ITPA):c.521C>T (p.Ala174Val)	SNV	Uncertain significance	464835	rs148875609	20:3204044-3204044	20:3223398-3223398
15	ITPA	NM_033453.4(ITPA):c.165G>C (p.Gln55His)	SNV	Uncertain significance	533418	rs1555773628	20:3194005-3194005	20:3213359-3213359
16	ITPA	NM_033453.4(ITPA):c.306G>C (p.Gln102His)	SNV	Uncertain significance	533419	rs939527021	20:3199173-3199173	20:3218527-3218527
17	ITPA	NM_033453.4(ITPA):c.388C>T (p.Arg130Cys)	SNV	Uncertain significance	533423	rs578227905	20:3199255-3199255	20:3218609-3218609
18	ITPA	NM_033453.4(ITPA):c.190G>T (p.Val64Leu)	SNV	Uncertain significance	533415	rs760868571	20:3194631-3194631	20:3213985-3213985
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.520G>A (p.Ala174Thr)	SNV	Uncertain significance	533417	rs747784107	20:3204043-3204043	20:3223397-3223397
21	ITPA	NM_033453.4(ITPA):c.415C>T (p.Arg139Trp)	SNV	Uncertain significance	533416	rs1329748108	20:3202490-3202490	20:3221844-3221844
22	ITPA	NM_033453.4(ITPA):c.66+5C>T	SNV	Uncertain significance	533424	rs367746086	20:3190268-3190268	20:3209622-3209622
23	ITPA	NM_033453.4(ITPA):c.117A>C (p.Lys39Asn)	SNV	Uncertain significance	533412	rs538432614	20:3193865-3193865	20:3213219-3213219
24	ITPA	NM_033453.4(ITPA):c.411+6T>C	SNV	Uncertain significance	653173		20:3199284-3199284	20:3218638-3218638
25	ITPA	NM_033453.4(ITPA):c.363C>A (p.Ser121Arg)	SNV	Uncertain significance	533420	rs765934653	20:3199230-3199230	20:3218584-3218584
26	ITPA	NM_033453.4(ITPA):c.316G>A (p.Gly106Arg)	SNV	Uncertain significance	533422	rs202194282	20:3199183-3199183	20:3218537-3218537
27	ITPA	NM_033453.4(ITPA):c.128C>T (p.Pro43Leu)	SNV	Uncertain significance	574417	rs142979373	20:3193968-3193968	20:3213322-3213322
28	ITPA	NM_033453.4(ITPA):c.403C>T (p.Arg135Trp)	SNV	Uncertain significance	572048	rs749416835	20:3199270-3199270	20:3218624-3218624
29	ITPA	NM_033453.4(ITPA):c.170G>A (p.Cys57Tyr)	SNV	Uncertain significance	568056	rs138760860	20:3194010-3194010	20:3213364-3213364
30	ITPA	NM_033453.4(ITPA):c.184C>T (p.Arg62Cys)	SNV	Uncertain significance	579389	rs201119006	20:3194024-3194024	20:3213378-3213378
31	ITPA	NM_033453.4(ITPA):c.397A>G (p.Arg133Gly)	SNV	Uncertain significance	574873	rs140777194	20:3199264-3199264	20:3218618-3218618
32	ITPA	NM_033453.4(ITPA):c.508G>A (p.Ala170Thr)	SNV	Uncertain significance	573969	rs199706843	20:3204031-3204031	20:3223385-3223385
33	ITPA	NM_033453.4(ITPA):c.57_58delinsAA (p.Leu20Met)	indel	Uncertain significance	661793		20:3190254-3190255	20:3209608-3209609
34	ITPA	NM_033453.4(ITPA):c.259T>G (p.Tyr87Asp)	SNV	Uncertain significance	645704		20:3194700-3194700	20:3214054-3214054
35	ITPA	NM_033453.4(ITPA):c.294A>C (p.Glu98Asp)	SNV	Uncertain significance	664794		20:3195957-3195957	20:3215311-3215311
36	ITPA	NM_033453.4(ITPA):c.509C>T (p.Ala170Val)	SNV	Uncertain significance	640079		20:3204032-3204032	20:3223386-3223386
37	ITPA	NM_033453.4(ITPA):c.523G>C (p.Val175Leu)	SNV	Uncertain significance	660271		20:3204046-3204046	20:3223400-3223400
38	ITPA	NC_000020.10:g.(?_3190178)_(3604448_?)dup	duplication	Uncertain significance	653521		20:3190178-3604448
39	ITPA	NM_033453.4(ITPA):c.411+5G>A	SNV	Uncertain significance	657778		20:3199283-3199283	20:3218637-3218637
40	ITPA	NM_033453.4(ITPA):c.411+5G>C	SNV	Uncertain significance	646756		20:3199283-3199283	20:3218637-3218637
41	ITPA	NM_033453.4(ITPA):c.510G>A (p.Ala170=)	SNV	Likely benign	533425	rs374703513	20:3204033-3204033	20:3223387-3223387
42	ITPA	NM_033453.4(ITPA):c.126G>A (p.Leu42=)	SNV	Likely benign	533427	rs1555773611	20:3193966-3193966	20:3213320-3213320
43	ITPA	NM_033453.4(ITPA):c.567T>C (p.Phe189=)	SNV	Likely benign	464836	rs183325660	20:3204090-3204090	20:3223444-3223444
44	ITPA	NM_033453.4(ITPA):c.129G>T (p.Pro43=)	SNV	Likely benign	464828	rs146112146	20:3193969-3193969	20:3213323-3213323

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

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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Inosine Triphosphatase Deficiency (ITPAD)

Aliases & Classifications for Inosine Triphosphatase Deficiency

MalaCards integrated aliases for Inosine Triphosphatase Deficiency:

Classifications:

External Ids:

Summaries for Inosine Triphosphatase Deficiency

Related Diseases for Inosine Triphosphatase Deficiency

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

Symptoms & Phenotypes for Inosine Triphosphatase Deficiency

Clinical features from OMIM:

Drugs & Therapeutics for Inosine Triphosphatase Deficiency

Genetic Tests for Inosine Triphosphatase Deficiency

Genetic tests related to Inosine Triphosphatase Deficiency:

Anatomical Context for Inosine Triphosphatase Deficiency

MalaCards organs/tissues related to Inosine Triphosphatase Deficiency:

Publications for Inosine Triphosphatase Deficiency

Articles related to Inosine Triphosphatase Deficiency:

Genes for Inosine Triphosphatase Deficiency

Genes related to Inosine Triphosphatase Deficiency (1 elite genes):

Variations for Inosine Triphosphatase Deficiency

ClinVar genetic disease variations for Inosine Triphosphatase Deficiency:

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

Expression for Inosine Triphosphatase Deficiency

Pathways for Inosine Triphosphatase Deficiency

GO Terms for Inosine Triphosphatase Deficiency

Sources for Inosine Triphosphatase Deficiency