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GTR Home > Conditions/Phenotypes > Inosine triphosphatase deficiency

Inosine triphosphatase deficiency

Synonyms
INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY

Summary

Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C20orf37, DEE35, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3, ITPA
    Summary: inosine triphosphatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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