inosine triphosphatase deficiency

MeSH: C564127ORPHA: 319684

Overview

inherited condition caused by mutation in the ITPA gene

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C564127

Orphanet Code

ORPHA:319684
inosine triphosphatase deficiency
MeSHC564127
OrphanetORPHA:319684
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO