| Disease ID | Source | Name | Description |
| 613850 | OMIM | Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) | 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. The disease is caused by variants affecting the gene represented in this entry. Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme. |
| 616647 | OMIM | Developmental and epileptic encephalopathy 35 (DEE35) | A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood. The disease is caused by variants affecting the gene represented in this entry. |