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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-01-2009
Symbol NPHD
Location 14q11.2
Name nucleoside phosphorylase deficiency
Other name(s) purine-nucleoside : orthophosphate ribosyltransferase
Corresponding gene NP
Other symbol(s) PNP
Main clinical features
  • immunodeficiency, severe, combined, often accompanied by a neurologic disorder, familial dysequilibrium-diplegia with T-lymphocyte deficiency
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name nucleoside phosphorylase (NP)