{"orpha":329813,"name":"Mosaic genome-wide paternal uniparental disomy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Androgenetic/biparental mosaicism","Genome-wide paternal uniparental disomy mosaicism","Mosaic genome-wide paternal UPD"],"definition":"A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329813/","orphanet_url":"https://www.orpha.net/en/disease/detail/329813","names":{"fr":{"name":"Syndrome de disomie uniparentale d'origine paternelle en mosaïque","synonyms":["Mosaïque androgénétique/biparentale"],"definition":"Anomalie chromosomique rare caractérisée par une combinaison de lignées cellulaires biparentales et uniparentales paternelles, à l'origine d'un tableau clinique variable qui comprend principalement des signes du syndrome de Beckwith-Wiedemann, ainsi qu'un risque accru de développer diverses tumeurs. Par ailleurs, certains signes du syndrome d'Angelman et de diabète néonatal transitoire sont possibles."},"de":{"name":"Genomweite paternale uniparentale Disomie im Mosaik","synonyms":["Genomweite paternale UPD im Mosaik"]},"es":{"name":"Síndrome de disomía uniparental paterna de genoma completo en mosaico","synonyms":["DUP paterna de genoma completo en mosaico","Mosaicismo androgénico/biparental"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por la combinación de líneas celulares biparentales y uniparentales paternas que conlleva a una presentación clínica variable que incluye, predominantemente, características del síndrome de Beckwith-Wiedemann y un riesgo incrementado de desarrollo de determinados tumores. Adicionalmente, puede asociar características del síndrome de Angelman y diabetes neonatal transitoria."},"it":{"name":"Sindrome disomia uniparentale paterna genomica in mosaico","definition":"È un'anomalia cromosomica rara caratterizzata dalla combinazione tra linee cellulari uniparentali e biparentali paterne. Il quadro clinico è variabile, per lo più caratterizzato dai segni clinici della sindrome di Beckwith-Wiedemann a da un aumento del rischio oncologico. Inoltre, possono associarsi i segni clinici caratteristici della sindrome di Angelman e il diabete neonatale transitorio."},"nl":{"name":"Mozaïsche genoomwijde paternale uniparentale disomie-syndroom","synonyms":["Androgenetisch/biparentaal mozaïcisme","Genoomwijde paternale uniparentale disomie-mozaïcisme","Mozaïsche genoomwijde paternale UPD"],"definition":"Een zeldzame chromosomale anomalie die gekarakteriseerd wordt door een combinatie van paternale uniparentale en biparentale cellijnen, wat leidt tot een variabel klinisch beeld met voornamelijk kenmerken van syndroom van Beckwith-Wiedemann en een verhoogd risico op verscheidene tumoren. Bijkomend kunnen kenmerken van syndroom van Angelman en transiënte neonatale diabetes verwacht worden."},"pt":{"name":"Dissomia uniparental paterna de genoma em mosaico"},"pl":{"name":"Zespół mozaikowej disomii jednorodzicielskiej pochodzenia ojcowskiego obejmującej cały genom","synonyms":["Mozaikowatośc androgenetyczna/oburodzicielska","Mozaikowatość dotycząca całogenomowej jednorodzicielskiej UPD","Mozaikowatość dotycząca całogenomowej ojcowskiej UPD"]},"cs":{"name":"Celogenomová paternální uniparentální dizomie v mozaice","synonyms":["Androgenetický/biparentální mosaicismus","Mozaická celogenomová paternální uniparentální dizomie","Celogenomová paternální UPD v mozaice"]},"uk":{"name":"Мозаїчна геномна батькова уніпарентна дисомія по всьому геному","synonyms":["Андрогенетичний/бівалентний мозаїцизм","Геномний мозаїцизм однобатьківської дисомії по батьківській лінії","Мозаїчний повногеномний батьковий UPD"],"definition":"A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected."},"zh":{"name":"嵌合基因组-广泛父系单亲二体","synonyms":["基因组-广泛父系单亲二体镶嵌现象"],"definition":"一种罕见的染色体异常，其特征是父系单系和双亲细胞系的结合，导致临床表现多变，主要包括Beckwith-Wiedemann综合征和各种肿瘤患病风险增加。此外，可能出现Angelman综合征和短暂性新生儿糖尿病。"},"tr":{"name":"Mozaik genom çapında paternal uniparental dizomi","synonyms":["Mozaik genomu çapında paternal UPD","Androgenetik/biparental mozaisizm","Genom çapında paternal uniparental dizomi mozaisizmi"]}},"xrefs":[{"source":"ICD-10","code":"Q95.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190828","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98152,"name":"Autosomal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"23804593[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23804593[PMID]"}],"phenotypes":null}