Biomaterial Database

[Hypoxanthine guanine phosphoribosyl transferase deficiency; Lesch-Nyhan syndrome]. 1988

N Ogasawara

UI	MeSH Term	Description	Entries
D007041	Hypoxanthine Phosphoribosyltransferase	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.	Guanine Phosphoribosyltransferase,HPRT,Hypoxanthine-Guanine Phosphoribosyltransferase,IMP Pyrophosphorylase,HGPRT,HPRTase,Hypoxanthine Guanine Phosphoribosyltransferase,Phosphoribosyltransferase, Guanine,Phosphoribosyltransferase, Hypoxanthine,Phosphoribosyltransferase, Hypoxanthine-Guanine,Pyrophosphorylase, IMP
D007926	Lesch-Nyhan Syndrome	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)	Choreoathetosis Self-Mutilation Hyperuricemia Syndrome,Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease,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
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia
D015316	Genetic Therapy	Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.	Gene Therapy,Somatic Gene Therapy,DNA Therapy,Gene Therapy, Somatic,Genetic Therapy, Gametic,Genetic Therapy, Somatic,Therapy, DNA,Therapy, Gene,Therapy, Somatic Gene,Gametic Genetic Therapies,Gametic Genetic Therapy,Genetic Therapies,Genetic Therapies, Gametic,Genetic Therapies, Somatic,Somatic Genetic Therapies,Somatic Genetic Therapy,Therapies, Gametic Genetic,Therapies, Genetic,Therapies, Somatic Genetic,Therapy, Gametic Genetic,Therapy, Genetic,Therapy, Somatic Genetic
D015971	Gene Expression Regulation, Enzymologic	Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.	Enzymologic Gene Expression Regulation,Regulation of Gene Expression, Enzymologic,Regulation, Gene Expression, Enzymologic