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GTR Home > Conditions/Phenotypes > Purine-nucleoside phosphorylase deficiency

Purine-nucleoside phosphorylase deficiency

Synonyms
NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; PNP deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992). [from OMIM]

Available tests

41 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (41 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NP, PRO1837, PUNP, PNP
    Summary: purine nucleoside phosphorylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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