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Inosine triphosphatase deficiency

MONDO:0013461

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.

Also known as: inosine triphosphatase deficiency, inosine triphosphate pyrophosphohydrolase deficiency

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)

Trials to join now! 1 Completed 1

Protein clue may unlock how breast cancer spreads

Knowledge-focused Completed

This study measured levels of a protein called IP3R3 in breast cancer tissue from 42 women. The goal was to see if this protein is involved in how cancer cells migrate and invade nearby tissues. Researchers hope this could lead to better understanding of what makes breast cancer …

Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:06 UTC