| Disease Aliases (105) | Choreoathetosis self mutilation hyperuricemia syndrome Choreoathetosis self mutilation syndrome Choreoathetosis self-mutilation hyperuricemia syndrome Choreoathetosis self-mutilation syndrome Choreoathetosis self-mutilation syndromes Complete hgprt deficiency disease Complete hgprt deficiency Complete hprt deficiencies Complete hprt deficiency Complete hprt deficiency complete Complete hypoxanthine guanine phosphoribosyltransferase deficiency Complete hypoxanthine-guanine phosphoribosyltransferase deficiency Deficiencies, complete hprt Deficiencies, hgprt Deficiencies, hypoxanthine phosphoribosyltransferase Deficiencies, total hprt Deficiency disease, complete hgprt Deficiency disease, hypoxanthine phosphoribosyl transferase Deficiency disease, hypoxanthine-phosphoribosyl-transferase Deficiency diseases, hypoxanthine-phosphoribosyl-transferase Deficiency of guanine phosphoribosyltransferase Deficiency of hypoxanthine phosphoribosyltransferase Deficiency of imp pyrophosphorylase Deficiency of hypoxanthine-guanine phosphoribosyltransferase Deficiency, complete hprt Deficiency, hgprt Deficiency, hypoxanthine phosphoribosyltransferase Deficiency, total hprt Guanine phosphoribosyltransferase deficiencies Guanine phosphoribosyltransferase deficiency Hg-prt deficiency Hgprt deficiencies Hgprt deficiency Hgprt deficiency disease, complete Hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency Hprt deficiency Hprt deficiency, complete Hprt deficiency, neurologic variant Hprt deficiencies, complete Hprt deficiencies, total Hprt deficiency, total Hprt complete deficiency Hprt deficiency grade iv Hprt1 deficiency Hypoxanthine guanine phosphoribosyltransferase 1 deficiency Hyperuricemia syndrome, juvenile Hyperuricemia syndrome, primary Hyperuricemia syndromes, juvenile Hyperuricemia syndromes, primary Hyperuricemia, x-linked Hyperuricemia, x-linked primary Hyperuricemias, x-linked Hyperuricemias, x-linked primary Hypoxanthine guanine phosphoribosyltransferase deficiency Hypoxanthine phosphoribosyl transferase deficiency disease Hypoxanthine phosphoribosyltransferase deficiencies Hypoxanthine phosphoribosyltransferase deficiency Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv Hypoxanthine-phosphoribosyl-transferase deficiency disease Hypoxanthine-phosphoribosyl-transferase deficiency diseases Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Juvenile gout, choreoathetosis, mental retardation syndrome Juvenile hyperuricemia syndrome Juvenile hyperuricemia syndromes Lesch-nyhan syndrome, neurologic variant Lns Lesch - nyhan syndrome Lesch nyhan disease Lesch nyhan syndrome Lesch-nyhan disease Lesch-nyhan syndrome; lns Phosphoribosyltransferase deficiencies, guanine Phosphoribosyltransferase deficiencies, hypoxanthine Phosphoribosyltransferase deficiency, guanine Phosphoribosyltransferase deficiency, hypoxanthine Primary hyperuricemia syndrome Primary hyperuricemia syndromes Primary hyperuricemia, x-linked Primary hyperuricemias, x-linked Self-mutilation syndrome, choreoathetosis Self-mutilation syndromes, choreoathetosis Syndrome, choreoathetosis self-mutilation Syndrome, juvenile hyperuricemia Syndrome, primary hyperuricemia Syndromes, choreoathetosis self-mutilation Syndromes, juvenile hyperuricemia Syndromes, primary hyperuricemia Total hgprt deficiency Total hprt deficiencies Total hprt deficiency Total hypoxanthine guanine phosphoribosyl transferase deficiency Total hypoxanthine-guanine phosphoribosyl transferase deficiency X linked hyperuricemia X linked primary hyperuricemia X-linked hyperuricemia X-linked hyperuricemias X-linked primary hyperuricemia X-linked primary hyperuricemias X-linked hyperuricemia (disorder) [ambiguous] Grade iv Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [lesch - nyhan syndrome]) |
Associated Genes (1) NCBI-RefSeq: HPRT1 (Hypoxanthine phosphoribosyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Lesch-Nyhan syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |