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Disease Lesch-Nyhan Syndrome

Name Lesch-Nyhan Syndrome
Synonyms Choreoathetosis Self Mutilation Hyperuricemia Syndrome | Choreoathetosis Self-Mutilation Hyperuricemia Syndrome | Choreoathetosis Self Mutilation Syndrome | Choreoathetosis Self-Mutilation Syndrome | Choreoathetosis Self-Mutilation Syndromes | Complete HGPRT Deficiency Disease | Complete HPRT Deficiencies | Complete HPRT Deficiency | Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency | Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency | Deficiencies, Complete HPRT | Deficiencies, HGPRT | Deficiencies, Hypoxanthine Phosphoribosyltransferase | Deficiencies, Total HPRT | Deficiency, Complete HPRT | Deficiency Disease, Complete HGPRT | Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase | Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase | Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase | Deficiency, HGPRT | Deficiency, Hypoxanthine Phosphoribosyltransferase | Deficiency of Guanine Phosphoribosyltransferase | Deficiency of Hypoxanthine Phosphoribosyltransferase | Deficiency, Total HPRT | Guanine Phosphoribosyltransferase Deficiencies | Guanine Phosphoribosyltransferase Deficiency | HGPRT Deficiencies | HGPRT Deficiency | HGPRT Deficiency Disease, Complete | HPRT1 DEFICIENCY | HPRT Deficiencies, Complete | HPRT Deficiencies, Total | HPRT DEFICIENCY | HPRT Deficiency, Complete | HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED | HPRT Deficiency, Total | Hyperuricemias, X-Linked | Hyperuricemias, X-Linked Primary | Hyperuricemia Syndrome, Juvenile | Hyperuricemia Syndrome, Primary | Hyperuricemia Syndromes, Juvenile | Hyperuricemia Syndromes, Primary | Hyperuricemia, X-Linked | Hyperuricemia, X-Linked Primary | Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency | Hypoxanthine Guanine Phosphoribosyltransferase Deficiency | Hypoxanthine Phosphoribosyltransferase Deficiencies | Hypoxanthine Phosphoribosyltransferase Deficiency | Hypoxanthine Phosphoribosyl Transferase Deficiency Disease | Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease | Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases | Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome | Juvenile Hyperuricemia Syndrome | Juvenile Hyperuricemia Syndromes | Lesch Nyhan Disease | Lesch-Nyhan Disease | Lesch Nyhan Syndrome | LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT, INCLUDED | LNS | Phosphoribosyltransferase Deficiencies, Guanine | Phosphoribosyltransferase Deficiencies, Hypoxanthine | Phosphoribosyltransferase Deficiency, Guanine | Phosphoribosyltransferase Deficiency, Hypoxanthine | Primary Hyperuricemias, X-Linked | Primary Hyperuricemia Syndrome | Primary Hyperuricemia Syndromes | Primary Hyperuricemia, 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 HPRT Deficiencies | Total HPRT Deficiency | Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency | Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency | X Linked Hyperuricemia | X-Linked Hyperuricemia | X-Linked Hyperuricemias | X Linked Primary Hyperuricemia | X-Linked Primary Hyperuricemia | X-Linked Primary Hyperuricemias
Definition An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D007926
OMIM® ID 300322
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Mental Retardation, X-Linked Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes Lesch-Nyhan Syndrome Has associated chemicals Has associated genes

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Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
  Lesch-Nyhan Syndrome, Neurologic Variant