LNS
MCID: LSC001
MIFTS: 64
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Lesch-Nyhan Syndrome (LNS)
Categories:
Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lesch-Nyhan Syndrome:
Characteristics:Inheritance:
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency:
X-linked recessive 58
Prevelance:
1-9/1000000 58
Age Of Onset:
Lesch-Nyhan Syndrome:
Infancy 58
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency:
All ages 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases Neuronal diseases Nephrological diseases Blood diseases
ICD10:
31
32
ICD11:
33
Orphanet: 58
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NINDS: 52 Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease. Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia. MalaCards based summary: Lesch-Nyhan Syndrome, also known as hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to disorder of purine metabolism and hyperuricemia, hprt-related, and has symptoms including vomiting, abnormality of extrapyramidal motor function and opisthotonus. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Disease. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and bone marrow, and related phenotypes are spasticity and behavioral abnormality MedlinePlus Genetics: 42 Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome. Orphanet 58 Lesch-nyhan syndrome: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. Hypoxanthine-guanine phosphoribosyltransferase deficiency: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. Disease Ontology: 11 A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has material basis in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. OMIM®: 57 The features of Lesch-Nyhan syndrome (LNS) are intellectual disability, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some patients (summary by van der Zee et al., 1968, Madeo et al., 2019). (300322) (Updated 08-Dec-2022) GARD: 19 Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. UniProtKB/Swiss-Prot: 73 Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, intellectual disability, and compulsive self-mutilation. Wikipedia: 75 Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme... more...
GeneReviews:
NBK1149
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Human phenotypes related to Lesch-Nyhan Syndrome:58 30 (show all 30)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:300322 (Updated 08-Dec-2022)UMLS symptoms related to Lesch-Nyhan Syndrome:vomiting; abnormality of extrapyramidal motor function; opisthotonus MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:45
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Drugs for Lesch-Nyhan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: lesch-nyhan syndrome |
Organs/tissues related to Lesch-Nyhan Syndrome:
MalaCards :
Kidney,
Skin,
Bone Marrow,
Globus Pallidus,
Bone,
Brain,
Prefrontal Cortex
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Articles related to Lesch-Nyhan Syndrome:(show top 50) (show all 1178)
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ClinVar genetic disease variations for Lesch-Nyhan Syndrome:5 (show top 50) (show all 96)
UniProtKB/Swiss-Prot genetic disease variations for Lesch-Nyhan Syndrome:73 (show all 36)
Copy number variations for Lesch-Nyhan Syndrome from CNVD:6
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Search
GEO
for disease gene expression data for Lesch-Nyhan Syndrome.
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Pathways directly related to Lesch-Nyhan Syndrome:
Pathways related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:(show all 15)
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Cellular components related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:(show all 25)
Molecular functions related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:
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