serw-MX  [xml]  
 
    
 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.425 Lesch-Nyhan Syndrome .
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System .
C10.228.140.163.100.435.825 Sphingolipidoses .
C10.228.140.163.100.435.825.300 Gangliosidoses .
C10.228.140.163.100.435.825.300.300 Gangliosidoses, GM2 .
C10.228.140.163.100.435.825.300.300.500 Tay-Sachs Disease .
C10.597 Neurologic Manifestations .
C10.597.606 Neurobehavioral Manifestations .
C10.597.606.643 Intellectual Disability .
C10.597.606.643.455 Mental Retardation, X-Linked .
C10.597.606.643.455.625 Lesch-Nyhan Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.500 Mental Retardation, X-Linked .
C16.320.322.500.625 Lesch-Nyhan Syndrome .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.525 Mental Retardation, X-Linked .
C16.320.400.525.625 Lesch-Nyhan Syndrome .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.425 Lesch-Nyhan Syndrome .
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System .
C16.320.565.189.435.825 Sphingolipidoses .
C16.320.565.189.435.825.300 Gangliosidoses .
C16.320.565.189.435.825.300.300 Gangliosidoses, GM2 .
C16.320.565.189.435.825.300.300.500 Tay-Sachs Disease .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.641 Lipidoses .
C16.320.565.398.641.803 Sphingolipidoses .
C16.320.565.398.641.803.350 Gangliosidoses .
C16.320.565.398.641.803.350.300 Gangliosidoses, GM2 .
C16.320.565.398.641.803.350.300.850 Tay-Sachs Disease .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System .
C16.320.565.595.554.825 Sphingolipidoses .
C16.320.565.595.554.825.300 Gangliosidoses .
C16.320.565.595.554.825.300.300 Gangliosidoses, GM2 .
C16.320.565.595.554.825.300.300.840 Tay-Sachs Disease .
C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors .
C16.320.565.798.594 Lesch-Nyhan Syndrome .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.425 Lesch-Nyhan Syndrome .
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System .
C18.452.132.100.435.825 Sphingolipidoses .
C18.452.132.100.435.825.300 Gangliosidoses .
C18.452.132.100.435.825.300.300 Gangliosidoses, GM2 .
C18.452.132.100.435.825.300.300.500 Tay-Sachs Disease .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.687 Lipidoses .
C18.452.584.687.803 Sphingolipidoses .
C18.452.584.687.803.350 Gangliosidoses .
C18.452.584.687.803.350.300 Gangliosidoses, GM2 .
C18.452.584.687.803.350.300.850 Tay-Sachs Disease .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.425 Lesch-Nyhan Syndrome .
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System .
C18.452.648.189.435.825 Sphingolipidoses .
C18.452.648.189.435.825.300 Gangliosidoses .
C18.452.648.189.435.825.300.300 Gangliosidoses, GM2 .
C18.452.648.189.435.825.300.300.500 Tay-Sachs Disease .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.641 Lipidoses .
C18.452.648.398.641.803 Sphingolipidoses .
C18.452.648.398.641.803.350 Gangliosidoses .
C18.452.648.398.641.803.350.300 Gangliosidoses, GM2 .
C18.452.648.398.641.803.350.300.850 Tay-Sachs Disease .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System .
C18.452.648.595.554.825 Sphingolipidoses .
C18.452.648.595.554.825.300 Gangliosidoses .
C18.452.648.595.554.825.300.300 Gangliosidoses, GM2 .
C18.452.648.595.554.825.300.300.840 Tay-Sachs Disease .
C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors .
C18.452.648.798.594 Lesch-Nyhan Syndrome .
D08 Enzymes and Coenzymes .
D08.811 Enzymes .
D08.811.913 Transferases .
D08.811.913.400 Glycosyltransferases .
D08.811.913.400.725 Pentosyltransferases .
D08.811.913.400.725.450 Hypoxanthine Phosphoribosyltransferase .
 
 Terms
 Synonyms & Historicals		Documents
LILACS e MDL		 
Lesch-Nyhan Syndrome .
Choreoathetosis Self-Mutilation Syndrome .
Complete HGPRT Deficiency Disease .
Complete HPRT Deficiency .
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency .
Deficiency Disease, Complete HGPRT .
Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase .
Deficiency of Guanine Phosphoribosyltransferase .
Deficiency of Hypoxanthine Phosphoribosyltransferase .
HGPRT Deficiency .
HGPRT Deficiency Disease, Complete .
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency .
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency .
Hypoxanthine Phosphoribosyltransferase Deficiency .
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome .
Juvenile Hyperuricemia Syndrome .
Lesch-Nyhan Disease .
Primary Hyperuricemia Syndrome .
Total HPRT Deficiency .
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency .
X-Linked Hyperuricemia .
X-Linked Primary Hyperuricemia .
Choreoathetosis Self Mutilation Hyperuricemia Syndrome .
Choreoathetosis Self Mutilation Syndrome .
Choreoathetosis Self-Mutilation Syndromes .
Complete HPRT Deficiencies .
Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency .
Deficiencies, Complete HPRT .
Deficiencies, HGPRT .
Deficiencies, Hypoxanthine Phosphoribosyltransferase .
Deficiencies, Total HPRT .
Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase .
Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase .
Deficiency, Complete HPRT .
Deficiency, HGPRT .
Deficiency, Hypoxanthine Phosphoribosyltransferase .
Deficiency, Total HPRT .
Guanine Phosphoribosyltransferase Deficiencies .
Guanine Phosphoribosyltransferase Deficiency .
HGPRT Deficiencies .
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 Phosphoribosyl Transferase Deficiency Disease .
Hypoxanthine Phosphoribosyltransferase Deficiencies .
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases .
Juvenile Hyperuricemia Syndromes .
Lesch Nyhan Disease .
Lesch Nyhan Syndrome .
Phosphoribosyltransferase Deficiencies, Guanine .
Phosphoribosyltransferase Deficiencies, Hypoxanthine .
Phosphoribosyltransferase Deficiency, Guanine .
Phosphoribosyltransferase Deficiency, Hypoxanthine .
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 Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency .
X Linked Hyperuricemia .
X Linked Primary Hyperuricemia .
X-Linked Hyperuricemias .
X-Linked Primary Hyperuricemias .
Choreoathetosis Self-Mutilation Hyperuricemia Syndrome .
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease .
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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201179
 
Hypoxanthine Phosphoribosyltransferase .
HGPRT .
HPRTase .
Hypoxanthine Guanine Phosphoribosyltransferase .
Phosphoribosyltransferase, Guanine .
Phosphoribosyltransferase, Hypoxanthine .
Phosphoribosyltransferase, Hypoxanthine-Guanine .
Pyrophosphorylase, IMP .
Hypoxanthine-Guanine Phosphoribosyltransferase .
IMP Pyrophosphorylase .
Guanine Phosphoribosyltransferase .
HPRT 5454 .
An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8. .
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104330
 
/deficiency .
Used with endogenous and exogenous substances which are absent or in diminished amount relative to the normal requirement of an organism or a biologic system. .
0.64
 
Tay-Sachs Disease .
Amaurotic Familial Idiocy .
B Variant GM2 Gangliosidosis .
B Variant GM2-Gangliosidosis .
Deficiency Disease Hexosaminidase A .
Familial Amaurotic Idiocy .
GM2 Gangliosidosis, B Variant .
GM2 Gangliosidosis, Type 1 .
GM2 Gangliosidosis, Type I .
GM2-Gangliosidosis, Type I .
Gangliosidosis GM2 , Type 1 .
Gangliosidosis GM2, Type I .
HexA Deficiency .
Hexosaminidase A Deficiency .
Hexosaminidase alpha-Subunit Deficiency (Variant B) .
Sphingolipidosis, Tay-Sachs .
Amaurotic Idiocy, Familial .
B Variant GM2-Gangliosidoses .
Deficiency, Hexosaminidase A .
Deficiency, Hexosaminidase alpha-Subunit (Variant B) .
GM2-Gangliosidosis, B Variant .
Hexosaminidase alpha Subunit Deficiency (Variant B) .
Sphingolipidosis, Tay Sachs .
Tay Sachs Disease .
Tay Sachs Disease, B Variant .
Tay-Sachs Sphingolipidosis .
Type I GM2-Gangliosidosis .
Gangliosidosis G(M2), Type I .
G(M2) Gangliosidosis, Type I .
Gangliosidosis GM2, B Variant .
Hexosaminidase A Deficiency Disease .
Tay-Sachs Disease, B Variant .
Amaurotic Familial Idiocy .
Gangliosidosis GM2, Type I .
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. .
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