{"orpha":59306,"name":"McLeod neuroacanthocytosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MLS","X-linked McLeod syndrome"],"definition":"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-59306/","orphanet_url":"https://www.orpha.net/en/disease/detail/59306","names":{"fr":{"name":"Syndrome de McLeod","synonyms":["Syndrome de McLeod lié à l'X"],"definition":"Le syndrome neuroacanthocytaire de McLeod (MLS) est une forme de neuroacanthocytose caractérisée cliniquement par un phénotype de type maladie de Huntington-like, avec un trouble du mouvement hyperkinétique involontaire, des manifestations psychiatriques et des altérations cognitives, et biochimiquement, par l'absence d'antigène Kx et une faible expression des antigènes Kell."},"de":{"name":"McLeod Neuro-Akanthozytose-Syndrom","definition":"Das McLeod Neuro-Akanthozytose-Syndrom (MLS) ist eine multisystemische, X-chromosomale Erkrankung mit zentralnervösen, neuromuskulären und hämatologischen Symptomen. Der Phänotyp ähnelt der Huntington-Krankheits mit einer unwillkürlichen hyperkinetischen Bewegungsstörung, psychiatrischen Symptomen und kognitiven Veränderungen sowie biochemisch durch das Fehlen des Kx-Antigens und durch eine schwache Exprimierung der Kell-Antigene. MLS gehört zu der Gruppe der Neuroakanthozytosen (siehe dort)."},"es":{"name":"Síndrome de neurocantocitosis de McLeod","definition":"El síndrome de neuroacantocitosis de McLeod (SML) es una forma de neuroacantocitosis caracterizada clínicamente por un fenotipo similar al de la enfermedad de Huntington (HD), con un trastorno del movimiento hipercinético involuntario, manifestaciones psiquiátricas y alteraciones cognitivas, y biomédicamente por la ausencia del antígeno Kx y por una expresión débil de los antígenos Kell."},"it":{"name":"Sindrome da neuroacantocitosi di McLeod","synonyms":["Sindrome di McLeod legata all'X"],"definition":"La sindrome da neuroacantocitosi di McLeod (MLS) è una forma di neuroacantocitosi caratterizzata, clinicamente, da un fenotipo Huntington-simile con disturbi ipercinetici involontari, sintomi psichiatrici e alterazioni cognitive e, a livello biochimico, dall'assenza dell'antigene Kx e da una debole espressione degli antigeni Kell."},"nl":{"name":"Neuroacanthocytose-syndroom van McLeod","synonyms":["MLS","X-gebonden syndroom van McLeod"],"definition":"McLeod-neuroacanthocytosesyndroom (MLS) is een vorm van neuroacanthocytose (zie deze term) en is klinisch gekenmerkt door een Huntington-achtig fenotype met een onwillekeurige hyperkinetische bewegingsstoornis, psychiatrische verschijnselen en cognitieve stoornissen, en is biochemisch gekenmerkt door de afwezigheid van het Kx-antigeen en zwakke expressie van de Kell-antigenen."},"pt":{"name":"Síndrome de neuroacantocitose McLeod","synonyms":["MLS","Síndrome McLeod ligada ao X"]},"pl":{"name":"Zespół neuroakantozy McLeoda","synonyms":["MLS","Zespół McLeoda sprzężony z chromosomem X"]},"cs":{"name":"McLeodův neuroakantocytotický syndrom","synonyms":["MLS","X-vázaný McLeodův syndrom"]},"uk":{"name":"Синдром нейроакантоцитозу Маклеода","synonyms":["MLS","Х-зчеплений синдром Маклеода"],"definition":"McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens."},"zh":{"name":"McLeod 神经棘红细胞增多综合征","synonyms":["X-连锁Mcleod综合征"]},"tr":{"name":"McLeod nöroakantositoz sendromu","synonyms":["MLS","X'e bağlı McLeod sendromu"]}},"xrefs":[{"source":"OMIM","code":"300842","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1749275115"},{"source":"MONDO","code":"0018945","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510408","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10731","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98366,"name":"Constitutional hemolytic anemia due to acanthocytosis","classifications":[156,194]},{"orpha":263440,"name":"Neuroacanthocytosis","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"XK","name":"X-linked Kx blood group antigen, Kell and VPS13A binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12811","ensembl":"ENSG00000047597","omim":"314850","loci":["Xp21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"22027213[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}