Descriptors Found: 1
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Descriptor English:   Lesch-Nyhan Syndrome 
Descriptor Spanish:   Síndrome de Lesch-Nyhan 
Descriptor Portuguese:   Síndrome de Lesch-Nyhan 
Synonyms English:   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  
Tree Number:   C10.
Definition English:   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) 
See Related English:   Hypoxanthine Phosphoribosyltransferase
History Note English:   1973(1971) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   8104 
Unique Identifier:   D007926 

Occurrence in VHL: