Lesch-Nyhan Syndrome malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Nephrological diseases, Blood diseases, Mental diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Lesch-Nyhan Syndrome:
Orphanet epidemiological data:52
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy
Inheritance: x-linked recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Nephrological diseases, Blood diseases, Mental diseases
ICD10: 29 28
Rare neurological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases
NIH Rare Diseases:46 Lesch nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. it occurs almost exclusively in males. signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). people with lesch nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. lesch nyhan syndrome is caused by changes (mutations) in the hprt1 gene and is inherited in an x-linked recessive manner. treatment is symptomatic and supportive. affected people often do not survive past the first or second decade of life due to renal failure. last updated: 1/13/2015
MalaCards based summary: Lesch-Nyhan Syndrome, also known as hypoxanthine guanine phosphoribosyltransferase deficiency, is related to hereditary hyperuricemia and neuroblastoma, and has symptoms including behavioral abnormality, hypertonia and arthritis. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways are Nucleotide Metabolism and purine nucleotides de novo biosynthesis. Affiliated tissues include kidney, skin and brain, and related mouse phenotypes are muscle and integument.
Genetics Home Reference:24 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:47 Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme (HPRT. LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.
UniProtKB/Swiss-Prot:68 Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.
Wikipedia:69 Lesch–Nyhan syndrome (LNS), also known as Nyhan\'s syndrome and juvenile gout, is a rare inherited... more...
Description from OMIM:50 300322
GeneReviews summary for NBK1149
Symptoms by clinical synopsis from OMIM:300322
Clinical features from OMIM:300322
Symptoms:52 (show all 11)
HPO human phenotypes related to Lesch-Nyhan Syndrome:(show all 28)
UMLS symptoms related to Lesch-Nyhan Syndrome:vomiting, opisthotonus, extrapyramidal sign
Drugs for Lesch-Nyhan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Lesch-Nyhan Syndrome
MalaCards organs/tissues related to Lesch-Nyhan Syndrome:34
Kidney, Skin, Brain, Globus pallidus, Liver, Spinal cord, Myeloid
MGI Mouse Phenotypes related to Lesch-Nyhan Syndrome:39
Articles related to Lesch-Nyhan Syndrome:(show top 50) (show all 374)
UniProtKB/Swiss-Prot genetic disease variations for Lesch-Nyhan Syndrome:68 (show all 35)
Clinvar genetic disease variations for Lesch-Nyhan Syndrome:5 (show all 40)
Copy number variations for Lesch-Nyhan Syndrome from CNVD:6
Search GEO for disease gene expression data for Lesch-Nyhan Syndrome.
Pathways related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:
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 10)
Molecular functions related to Lesch-Nyhan Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet