Details of Disease

General Information of Disease (ID: DISM4LMR)

Disease Name Inosine triphosphatase deficiency
Synonyms inosine triphosphate pyrophosphohydrolase deficiency; inosine triphosphatase deficiency
Definition 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.
Disease Hierarchy
DISYKSRF: Genetic disease
DISM4LMR: Inosine triphosphatase deficiency
Disease Identifiers
MONDO ID
MONDO_0013461
MESH ID
C564127
UMLS CUI
C0342800
OMIM ID
613850
MedGen ID
452450
Orphanet ID
319684
SNOMED CT ID
238011005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITPA OTQ47WVR Moderate Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.