inosine triphosphatase deficiency
MONDO:0013461Also known as: inosine triphosphatase deficiency
Rare disease39 associated genes
Description
An 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.
Associated genes
+29 more genes — install the extension to see the full list inline on any page.