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LNS
MCID: LSC001
MIFTS: 63
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Lesch-Nyhan Syndrome (LNS)
Categories:
Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lesch-Nyhan Syndrome:
Characteristics:Orphanet epidemiological data:60
lesch-nyhan syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; OMIM:58
Inheritance:
x-linked recessive
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 HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Nephrological diseases Blood diseases
ICD10:
34
35
Orphanet: 60
Rare neurological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases
External Ids:
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NIH Rare Diseases
:
54
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 206428Disease definitionHypoxanthine-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.EpidemiologyPrevalence of HPRT deficiency is unknown but estimated prevalence for Lesch-Nyhan syndrome (LNS; see this term) is estimated between 1/380,000 and 1/235,000 live births. Males are generally affected and heterozygous females are carriers (usually asymptomatic).Clinical descriptionOnset occurs during infancy. Two forms of the disease have been described: LNS, the most severe form, with a complete enzyme deficiency, and Lesch-Nyhan variants with partial HPRT deficiency. LNS is characterized by uric acid overproduction-related symptoms associated with urolithiasis and gout, severe neurological manifestations, hematological disturbances, and compulsive self-injurious behaviour. LNS patients have a limited life expectancy. In the less severely affected LNS variants, also termed Kelley-Seegmiller syndrome (KSS; see this term), uric acid overproduction-related symptoms are prominent, neurological manifestations are usually unapparent, compulsive self-injurious behaviour is absent and patients have a normal life expectancy.EtiologyInheritance is X-linked recessive and HPRT deficiency results from mutations in the HPRT1 gene (Xq26).Visit the Orphanet disease page for more resources.
MalaCards based summary : Lesch-Nyhan Syndrome, also known as lns, is related to kelley-seegmiller syndrome and nephrolithiasis, calcium oxalate, 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 Purine metabolism and Metabolism. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related phenotypes are spasticity and behavioral abnormality Genetics Home Reference : 26 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. NINDS : 55 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. UniProtKB/Swiss-Prot : 76 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. Wikipedia : 77 Lesch–Nyhan syndrome (LNS), is a rare inherited disorder caused by a deficiency of the enzyme... more...
Description from OMIM:
300322
GeneReviews:
NBK1149
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Human phenotypes related to Lesch-Nyhan Syndrome:60 33 (show all 30)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:300322UMLS symptoms related to Lesch-Nyhan Syndrome:vomiting, abnormality of extrapyramidal motor function, opisthotonus MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:47
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Drugs for Lesch-Nyhan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 23)
Interventional clinical trials:
Cochrane evidence based reviews: lesch-nyhan syndrome |
MalaCards organs/tissues related to Lesch-Nyhan Syndrome:42
Kidney,
Skin,
Brain,
Liver,
Testes,
Globus Pallidus,
Lymph Node
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Articles related to Lesch-Nyhan Syndrome:(show top 50) (show all 428)
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Genes related to Lesch-Nyhan Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Lesch-Nyhan Syndrome:76 (show all 35)
ClinVar genetic disease variations for Lesch-Nyhan Syndrome:6 (show top 50) (show all 78)
Copy number variations for Lesch-Nyhan Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Lesch-Nyhan Syndrome.
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Pathways related to Lesch-Nyhan Syndrome according to KEGG:38
Pathways related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:
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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 12)
Molecular functions related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:
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