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

MCID: INS015 MIFTS: 15	Inosine Triphosphatase Deficiency Categories: Genetic diseases
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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 ⁷³

Inosine Triphosphate Pyrophosphohydrolase Deficiency ⁵⁷ ⁷⁵

Itpad ⁷⁵

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613850

MedGen ⁴² C0342800 C1840173

MeSH ⁴⁴ D008661

UMLS ⁷³ C0342800

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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)

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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	10.2
2	hepatitis	10.0
3	hepatitis c	10.0

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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

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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 )	Clark P.J....Colombo M.	2013
2	Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. ( 17138556 )	Stenmark P....Schueler H.	2007
3	DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. ( 12436200 )	Cao H....Hegele R.A.	2002

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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	1403.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ 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)	12384777 11278832 12436200 (more) 19631656

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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

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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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