DISEASES

Disease-gene associations mined from literature

Human genes for Lesch-Nyhan syndrome

Lesch-Nyhan syndrome [DOID:1919]

Lesch–Nyhan syndrome (LNS), also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout:546, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on (the) X chromosome. LNS affects about one in 380,000 live births. The disorder was first recognized and clinically characterized by medical student Michael Lesch and his mentor, pediatrician Bill Nyhan, who published their findings in 1964.

Synonyms:  Lesch-Nyhan syndrome,  DOID:1919,  LeschNyhan syndrome,  Lesch-Nyhan disease,  Lesch-Nyhan disorder ...