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GENATLAS PHENOTYPE

last update : 14-10-2009

Symbol	HPRT1D
Location	Xq26.3
Name	hypoxanthine guanine phosphoribosyltransferase 1 deficiency
Other name(s)	Lesch Nyhan syndrome HPRT1 deficiency hypoxanthine guanine phosphoribosyltransferase 1 deficiency
Corresponding gene	HPRT1
Other symbol(s)	LNS, LND
Main clinical features	characteristic neurobehavioral disorder that has been linked with dysfunction of dopaminergic pathways of the basal ganglia mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips
Genetic determination	sex linked
Prevalence	1/235 000 live births
Function/system disorder	metabolism/purine or pyrimidine
Type	disease

Gene product

Name	hypoxanthine phosphoribosyltransferase (HPRT1)

Remark(s)

. HPRT deficiency may affect dopaminergic neurons by influencing early developmental mechanisms (Ceballos-Picot 2009)