| Descriptor English: | Lesch-Nyhan Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Lesch-Nyhan
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| Descriptor Portuguese: | Síndrome de Lesch-Nyhan | ||||||
| Descriptor French: | Syndrome de Lesch-Nyhan | ||||||
| Entry term(s): |
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 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 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, Complete HPRT Deficiency, HGPRT Deficiency, Hypoxanthine Phosphoribosyltransferase Deficiency, Total HPRT Guanine Phosphoribosyltransferase Deficiencies Guanine Phosphoribosyltransferase Deficiency HGPRT Deficiencies HGPRT Deficiency HGPRT Deficiency Disease, Complete HPRT Deficiencies, Complete HPRT Deficiencies, Total HPRT Deficiency, Complete HPRT Deficiency, Total 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 1 Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Phosphoribosyl Transferase Deficiency Disease Hypoxanthine Phosphoribosyltransferase Deficiencies Hypoxanthine Phosphoribosyltransferase Deficiency 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 Syndrome Lesch-Nyhan Disease 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 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 |
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| Tree number(s): |
C10.228.140.163.100.425 C10.597.606.360.455.625 C16.320.322.500.625 C16.320.400.525.625 C16.320.565.189.425 C16.320.565.798.594 C18.452.132.100.425 C18.452.648.189.425 C18.452.648.798.594 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D007926 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Athetosis (1966-1970) Mental Retardation (1966-1970) Purine-Pyrimidine Metabolism, Inborn Errors (1966-1970) Self Mutilation (1966-1970) |
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| Public MeSH Note: | 1973 |
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| History Note: | 1973(1971) |
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| Related: |
Hypoxanthine Phosphoribosyltransferase
MeSH | ||||||
| DeCS ID: | 8104 | ||||||
| Unique ID: | D007926 | ||||||
| NLM Classification: | WD 205.5.P8 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1973/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2018/06/30 |
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Lesch-Nyhan Syndrome
- Preferred
| Concept UI |
M0012368 |
| Scope note | 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) |
| Preferred term | Lesch-Nyhan Syndrome |
| Entry term(s) |
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 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 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, Complete HPRT Deficiency, HGPRT Deficiency, Hypoxanthine Phosphoribosyltransferase Deficiency, Total HPRT Guanine Phosphoribosyltransferase Deficiencies Guanine Phosphoribosyltransferase Deficiency HGPRT Deficiencies HGPRT Deficiency HGPRT Deficiency Disease, Complete HPRT Deficiencies, Complete HPRT Deficiencies, Total HPRT Deficiency, Complete HPRT Deficiency, Total 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 1 Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Phosphoribosyl Transferase Deficiency Disease Hypoxanthine Phosphoribosyltransferase Deficiencies Hypoxanthine Phosphoribosyltransferase Deficiency 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 Syndrome Lesch-Nyhan Disease 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 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 |
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