Features include always present findings: Seizure and Global developmental delay; and very common findings: Feeding difficulties. 16 total HPO annotations.

ITPA encodes inosine triphosphatase (194 aa). Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triphosphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. Highest expression in Thyroid (76.1 TPM) and Cells Cultured fibroblasts (66.5 TPM).

Developmental and epileptic encephalopathy, 35 is associated with mutations in the ITPA gene on chromosome 20.

The ITPA protein participates in ITPA hydrolyses dITP to dIMP, ITPA hydrolyses XTP to XMP, and ITPA hydrolyses ITP to IMP pathways.

ITPA is classified as a druggable target (Enzyme category) with score 2.8.

Genetic testing for ITPA is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

13 publications have been identified in PubMed for developmental and epileptic encephalopathy, 35. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (38%), and Review / Meta-Analysis (15%).