{"orpha":1762,"name":"Proximal Xq28 duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MECP2 duplication syndrome","X-linked intellectual disability syndrome, Lubs type"],"definition":"A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1762/","orphanet_url":"https://www.orpha.net/en/disease/detail/1762","names":{"fr":{"name":"Syndrome de duplication Xq28 proximale","synonyms":["Syndrome de duplication MECP2","Syndrome de déficience intellectuelle liée à l'X type Lubs"],"definition":"Syndrome génétique rare, lié à l'X, associé à des duplications chromosomiques interstitielles au locus Xq28 comprenant le gène <i>MECP2</i>. Il est caractérisé chez les garçons par une hypotonie précoce, un retard de développement sévère, une déficience intellectuelle, une spasticité progressive, une épilepsie, des symptômes gastro-intestinaux et des infections respiratoires récurrentes. Chez les femmes, le phénotype est plus variable."},"de":{"name":"Xq28-Duplikationssyndrom, proximales","synonyms":["MECP2-Duplikations-Syndrom","X-chromosomale Intelligenzminderung Typ Lubs"],"definition":"Eine seltene X-chromosomale Störung, die mit interstitiellen Chromosomenduplikationen auf Xq28 assoziiert ist, die das <i>MECP2</i>-Gen umfassen. Sie ist bei männlichen Patienten durch eine im Kindesalter einsetzende Hypotonie, schwere globale Entwicklungsverzögerung, Intelligenzminderung, progressive Spastik, Krampfanfälle, gastrointestinale Symptome und wiederkehrende Atemwegsinfektionen gekennzeichnet. Bei Frauen ist der Phänotyp variabler."},"es":{"name":"Síndrome de duplicación Xq28 proximal","synonyms":["Síndrome de discapacidad intelectual ligado al cromosoma X, tipo Lubs","Síndrome de duplicación del gen MECP2"],"definition":"Es un trastorno poco frecuente de base genética ligado al cromosoma X asociado con duplicaciones cromosómicas intersticiales en Xq28 que abarca al gen <i>MECP2</i>. Se caracteriza, en varones, por hipotonía de inicio en el periodo de lactancia, grave retraso global del desarrollo, discapacidad intelectual, espasticidad progresiva, crisis, trastornos digestivos e infecciones respiratorias recurrentes. En mujeres, el fenotipo es más variable."},"it":{"name":"Sindrome da duplicazione Xq28 prossimale","synonyms":["Sindrome da disabilità intellettiva legata all'X, tipo Lubs","Sindrome da duplicazione di MECP2"],"definition":"Si tratta di una malattia genomica rara legata all'X, associata a duplicazioni cromosomiche interstiziali in Xq28 che comprendono il gene <i>MECP2</i>. Nei maschi è caratterizzata da ipotonia ad esordio neonatale, grave ritardo dello sviluppo globale, disabilità intellettiva, spasticità progressiva, crisi epilettiche, sintomi gastrointestinali e infezioni respiratorie ricorrenti. Nelle femmine il fenotipo è più variabile."},"nl":{"name":"Proximale Xq28-duplicatiesyndroom","synonyms":["MECP2-duplicatiesyndroom","X-gebonden intellectuele achterstand-syndroom, Lubs-type"],"definition":"Een zeldzame X-gebonden genomische aandoening, geassocieerd met interstitiële chromosomale duplicaties ter hoogte van Xq28 die het gen <i>MECP2</i> omvatten. Bij mannen wordt de aandoening gekenmerkt door infantiel optredende hypotonie, ernstige algehele ontwikkelingsachterstand, intellectuele achterstand, progressieve spasticiteit, insulten, gastro-intestinale symptomen, en recidiverende respiratoire infecties. Bij vrouwen is het fenotype variabeler."},"pt":{"name":"Síndrome de duplicação proximal Xq28","synonyms":["Síndrome de duplicação MECP2","Síndrome de perturbação do desenvolvimento intelectual relacionado com o X, tipo Lubs"],"definition":"Anomalia genómica rara ligada ao X associada a duplicações cromossómicas intersticiais em Xq28 englobando o gene <i>MECP2<i>. Caracteriza-se no sexo masculino por hipotonia de início infantil, atraso grave no desenvolvimento global, perturbação do desenvolvimento intelectual, espasticidade progressiva, convulsões, sintomas gastrointestinais e infeções respiratórias recorrentes. Nas mulheres, o fenótipo é mais variável."},"pl":{"name":"Trisomia Xq28","synonyms":["Dystalna duplikacja Xq","Telomerowa duplikacja Xq"]},"cs":{"name":"Trizomie Xq28","synonyms":["Distální duplikace Xq","Telomerická duplikace Xq"]},"uk":{"name":"Синдром проксимальної дуплікації Xq28","synonyms":["Синдром дуплікації MECP2","Х-зчеплений синдром розумової відсталості, тип Любса"],"definition":"A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable."},"zh":{"name":"Xq28三体","synonyms":["X染色体长臂末端着丝粒重复"]},"tr":{"name":"Trizomi Xq28","synonyms":["Distal duplikasyon Xq","Telomerik duplikasyon Xq"]}},"xrefs":[{"source":"OMIM","code":"300260","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300815","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD51","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010283","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537723","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846058","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9781","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":85281,"name":"OBSOLETE: MECP2 duplication syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":263783,"name":"Partial duplication of the long arm of chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"MECP2","name":"methyl-CpG binding protein 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17088400[PMID]","hgnc":"6990","ensembl":"ENSG00000169057","omim":"300005","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_EXPERT"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"Australia","status":"Validated","source":"30756435[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Australia","status":"Validated","source":"30756435[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null}]}}