{"orpha":94083,"name":"Partington syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Partington-Mulley syndrome","X-linked intellectual disability-dystonia-dysarthria syndrome"],"definition":"Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (<i>ARX</i>) gene (Xp22.13). Transmission is X-linked recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94083/","orphanet_url":"https://www.orpha.net/en/disease/detail/94083","names":{"fr":{"name":"Syndrome de Partington","synonyms":["Syndrome de Partington-Mulley","Syndrome de déficience intellectuelle liée à l'X-main en griffe-dysarthrie"],"definition":"Le syndrome de Partington est une forme syndromique de retard mental lié à l'X (RMLX) caractérisée par l'association d'un déficit intellectuel léger à modéré, d'une dysarthrie et de mouvements dystoniques de la main. A ce jour, moins de 20 cas ont été décrits dans la littérature. Le syndrome est dû à des mutations dans le gène à homéobox <i>ARX</i> (<I>Aristaless-related</i>) en Xp22.13. Le mode de transmission est récessif lié à l'X."},"de":{"name":"Partington-Syndrom","synonyms":["Partington-Mulley-Syndrom","X-chromosomale Intelligenzminderung mit Dystonie und Dysarthrie"],"definition":"Das Partington-Syndrom ist eine Form von syndromaler X-chromosomaler geistiger Behinderung (S-XLMR) mit leichtem bis mäßigem intellektuellen Defizit, Dysarthrie und dystonen Handbewegungen. Bisher wurden weniger als 20 Patienten beschrieben. Ursache des Syndroms sind Mutationen im Aristaless-related homeobox (<i>ARX</i>)-Gen (Xp22.13). Die Vererbung ist X-chromosomal-rezessiv."},"es":{"name":"Síndrome de Partington","synonyms":["Síndrome de Partington-Mulley","Síndrome de discapacidad intelectual-distonía-disartria ligado al cromosoma X"],"definition":"Es una forma de retraso mental sindrómico ligado al cromosoma X (S-XLMR) caracterizado por la asociación de un déficit intelectual de leve a moderado, disartria y movimientos distónicos de las manos. Hasta la fecha, se han descrito menos de 20 casos en la literatura. El síndrome está causado por mutaciones en el gen <i>ARX</i> (Aristaless-related homeobox; Xp22.13). La transmisión es recesiva ligada al cromosoma X."},"it":{"name":"Sindrome di Partington","synonyms":["Sindrome disabilità intellettiva legata all'X-distonia-disartria","Sindrome di Partington-Mulley"]},"nl":{"name":"Syndroom van Partington","synonyms":["Syndroom van Partington-Mulley","X-gebonden intellectuele achterstand - dystonie - dysartrie-syndroom"],"definition":"Een vorm van syndromale X-gebonden mentale retardatie (S-XLMR), gekenmerkt door de associatie van milde tot matige intellectuele achterstand, dysartrie en dystonische handbewegingen. Tot op heden werden minder dan 20 gevallen beschreven in de literatuur. Het syndroom wordt veroorzaakt door mutaties in het gen Aristaless-gerelateerde homeobox (<i>ARX</i>) (Xp22.13). Overerving gebeurt X-gebonden recessief."},"pt":{"name":"Síndrome Partington","synonyms":["Síndrome Partington-Mulley","Síndrome de perturbação do desenvolvimento intelectual ligado ao X-distonia-disartria"]},"pl":{"name":"Zespół Partingtona","synonyms":["Niepełnosprawność sprzężona z chromosomem X - dystonia - dyzartria","Zespół Partingtona i Mulley'a"]},"cs":{"name":"Partingtonův syndrom","synonyms":["Syndrom zahrnující X-vázanou mentální retardaci, dystonii a dysartrii","Partingtonův-Mulleyův syndrom","Partington-Mulleyův syndrom"]},"uk":{"name":"Синдром Партингтона","synonyms":["Синдром Партингтона-Маллі","Х-зчеплений синдром інтелектуальної недостатності-дистонії-дизартрії"],"definition":"Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (<i>ARX</i>) gene (Xp22.13). Transmission is X-linked recessive."},"zh":{"name":"帕廷顿综合征","synonyms":["X-连锁智力障碍-肌张力障碍-构音困难综合征"],"definition":"Partington综合征是一种X染色体连锁遗传综合征性的精神发育迟缓（S-XLMR），其特征是轻到中度智力缺陷、构音障碍和及张力障碍所致手部运动障碍。到目前为止，既往在文献中被报道的病例不到20例。该综合征是由Aristaless相关同源域编码框（ARX）基因（Xp22.13）突变引起的，呈X染色体连锁隐性遗传。"},"tr":{"name":"Partington sendromu","synonyms":["Partington-Mulley sendromu","X'e bağlı zihinsel yetersizlik-distoni-dizartri sendromu"]}},"xrefs":[{"source":"OMIM","code":"309510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010654","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536300","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796250","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4235","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":182079,"name":"ARX-related epileptic encephalopathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ARX","name":"aristaless related homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11889467[PMID]","hgnc":"18060","ensembl":"ENSG00000004848","omim":"300382","loci":["Xp21.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3177452[PMID]_12376949[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3177452[PMID]_12376949[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-09","source":"3177452[PMID]_16647850[PMID]_14631200[PMID]_21204215[PMID]_17082467[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}