ITPA Chromosome 20
Inosine triphosphatase
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What This Gene Does
This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Associated Conditions (9)
Inosine triphosphatase deficiency
peginterferon alfa-2b and ribavirin response - Toxicity
Developmental and epileptic encephalopathy
35
ITPA-related disorder
Infantile epileptic dyskinetic encephalopathy
Inborn genetic diseases
Hypodontia
Ovarian serous cystadenocarcinoma
Key Variants
RS1127354
drug response
Inosine triphosphatase deficiency, peginterferon alfa-2b and ribavirin response - Toxicity, Inosine triphosphatase deficiency
Drug Response
RS7270101
drug response
Inosine triphosphatase deficiency, peginterferon alfa-2b and ribavirin response - Toxicity, Developmental and epileptic encephalopathy
Drug Response
RS1343080275
Conflicting classifications of pathogenicity
Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35
Health Risk
RS1380443187
Conflicting classifications of pathogenicity
Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
Health Risk
RS746930990
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency
Health Risk
RS758706191
Conflicting classifications of pathogenicity
Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35
Health Risk
RS771525761
Conflicting classifications of pathogenicity
Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35
Health Risk
RS1600509558
Likely pathogenic
Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy
Health Risk
RS2067217104
Likely pathogenic
Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy
Health Risk
RS2067370892
Likely pathogenic
Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy
Health Risk
RS2122274245
Likely pathogenic
Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
Health Risk
RS2122328391
Likely pathogenic
Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1127354 | Drug Response | drug response | Inosine triphosphatase deficiency, peginterferon alfa-2b and ribavirin response - Toxicity, Inosine triphosphatase deficiency |
| RS7270101 | Drug Response | drug response | Inosine triphosphatase deficiency, peginterferon alfa-2b and ribavirin response - Toxicity, Developmental and epileptic encephalopathy |
| RS1343080275 | Health Risk | Conflicting classifications of pathogenicity | Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35 |
| RS1380443187 | Health Risk | Conflicting classifications of pathogenicity | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS746930990 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency |
| RS758706191 | Health Risk | Conflicting classifications of pathogenicity | Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35 |
| RS771525761 | Health Risk | Conflicting classifications of pathogenicity | Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35 |
| RS1600509558 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy |
| RS2067217104 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy |
| RS2067370892 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy |
| RS2122274245 | Health Risk | Likely pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS2122328391 | Health Risk | Likely pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS2514423508 | Health Risk | Likely pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS2514425248 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy |
| RS2514458622 | Health Risk | Likely pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS2514489594 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy |
| RS1227149616 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS1381781375 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS1408254396 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35 |
| RS1568509937 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS200086262 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency |
| RS2514423602 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS2514423744 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS2514425313 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 35, Developmental and epileptic encephalopathy |
| RS2514437642 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS370326110 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS748042110 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, ITPA-related disorder, Developmental and epileptic encephalopathy |
| RS760003902 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS770956514 | Health Risk | Pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency |
| RS1407446171 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 35, Inosine triphosphatase deficiency |
| RS2122346498 | Health Risk | Pathogenic/Likely pathogenic | Inosine triphosphatase deficiency, Infantile epileptic dyskinetic encephalopathy, Inosine triphosphatase deficiency |
| RS2122396524 | Health Risk | Pathogenic/Likely pathogenic | Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35 |
| RS2514460185 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inosine triphosphatase deficiency, Inborn genetic diseases |
| RS376142053 | Health Risk | Pathogenic/Likely pathogenic | Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy, 35 |
| RS781254071 | Health Risk | Pathogenic/Likely pathogenic | Inosine triphosphatase deficiency, Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy |