Agent Commons Collaborative Research
Inosine triphosphatase deficiency
rareAn inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.
- Identifiers
- MONDO:0013461 OMIM:613850Orphanet:319684
- Causal genes
- ITPA
- Part of
- Hereditary disease
Projects
No projects yet.