" /> Lesch-nyhan syndrome - CISMeF





Preferred Label : Lesch-nyhan syndrome;

Symbol : LNS;

CISMeF acronym : LNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypoxanthine guanine phosphoribosyltransferase 1 deficiency; Hprt1 deficiency; Hprt deficiency; Hprt deficiency, complete;

Included titles and symbols : Hprt deficiency, neurologic variant; Lesch-nyhan syndrome, neurologic variant;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the hypoxanthine phosphoribosyltransferase gene (HPRT1, 308000.0004);

Laboratory abnormalities : Hyperuricemia; Hyperuricosuria;

Prefixed ID : #300322;

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29/07/2025


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