Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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)

Remark(s)