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

ITPAD MCID: INS015 MIFTS: 22	Inosine Triphosphatase Deficiency (ITPAD) Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613850

MeSH ⁴⁴ D008661

MedGen ⁴² C0342800 C1840173

UMLS ⁷² C0342800

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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)

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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:

⁴¹

Kidney

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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	Sumi S...Duley JA	12384777	2002
2	DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. ³⁸ ⁷¹	Cao H...Hegele RA	12436200	2002
3	Functional study of the P32T ITPA variant associated with drug sensitivity in humans. ⁷¹	Stepchenkova EI...Pavlov YI	19631656	2009
4	Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. ⁷¹	Lin S...Mao Y	11278832	2001
5	Individual variation in inosine triphosphate accumulation in human erythrocytes. ⁸	Fraser JH...McCoy EE	1204209	1975
6	ITP pyrophosphohydrolase and IDP phosphohydrolase in rat tissue. ⁸	Vanderheiden BS	170291	1975
7	Genetic studies of human erythrocyte inosine triphosphatase. ⁸	Vanderheiden BS	4376397	1969
8	Personalized Whole-Cell Kinetic Models of Metabolism for Discovery in Genomics and Pharmacodynamics. ³⁸	Bordbar A...Palsson BO	27136057	2015
9	Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy. ³⁸	Clark PJ...Colombo M	24304455	2013
10	[Genetic polymorphisms as predictors of response to antiviral treatment in chronic hepatitis C virus infection]. ³⁸	Par A	21565755	2011
11	Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients. ³⁸	Xiong H...Yu AR	19682085	2010
12	ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. ³⁸	Fellay J...Goldstein DB	20173735	2010
13	Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. ³⁸	Stenmark P...Schuler H	17138556	2007
14	Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. ³⁸	Maeda T...Togari H	15946879	2005
15	A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. ³⁸	Sumi S...Togari H	15243983	2004
16	Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency. ³⁸	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	1404.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ Drug response ⁶ GeneCards inferred via : Publications Variants (show sections)	12436200 19631656 11278832 (more) 12384777

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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

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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