{"orpha":1052,"name":"Mosaic variegated aneuploidy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Warburton-Anyane-Yeboa syndrome"],"definition":"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1052/","orphanet_url":"https://www.orpha.net/en/disease/detail/1052","names":{"fr":{"name":"Syndrome d'aneuploïdie en mosaïque","synonyms":["Syndrome de Warburton-Anyane-Yeboa"],"definition":"Le syndrome d'aneuploïdie en mosaïque (SAM) est une anomalie chromosomique caractérisée par des aneuploïdies en mosaïque entraînant des anomalies phénotypiques et une prédisposition au cancer."},"de":{"name":"Variables Aneuploidie-Mosaik-Syndrom","synonyms":["Syndrom der Gemischten Mosaik-Aneuploidie","Warburton-Anyane-Yeboa-Syndrom"],"definition":"Das Syndrom der Gemischten Mosaik-Aneuploidie (<I>mosaic variegated aneuploidy</I>; MVA) ist eine Chromosomenanomalie mit multiplen Mosaik-Aneuploidien, die zu unterschiedlichen Symptomen und zu Krebsdisposition führt."},"es":{"name":"Síndrome de aneuploidía en mosaico variegada","definition":"El síndrome de aneuploidía en mosaico variegada (MVA) es una anomalía cromosómica caracterizada por aneuploidías múltiples en mosaico que dan lugar a una variedad de anomalías fenotípicas y predisposición al cáncer."},"it":{"name":"Sindrome da aneuploidia variegata in mosaico","synonyms":["Sindrome di Warburton-Anyane-Yeboa"],"definition":"La sindrome da aneuploidia variegata in mosaico (MVA) è un'anomalia cromosomica caratterizzata da aneuploidie multiple in mosaico, associate a svariate anomalie fenotipiche e predisposizione ai tumori."},"nl":{"name":"Variabele aneuploïdie-mozaïek-syndroom","synonyms":["'Mosaic variegated aneuploidy'-syndroom","Syndroom van Warburton-Anyane-Yeboa"],"definition":"Mozaïek gevarieerd aneuploïdie (MVA) -syndroom is een chromosomale afwijking gekenmerkt door meerdere mozaïekaneuploïdieën, die leiden tot verschillende fenotypische afwijkingen en predispositie voor kanker."},"pt":{"name":"Síndrome aneuploidia variada em mosaico","synonyms":["Síndrome Warburton-Anyane-Yeboa"],"definition":"A síndrome de aneuploidia variegada em mosaico (MVA) é uma anomalia cromossómica caracterizada por múltiplas aneuploidias em mosaico que leva a uma variedade de anomalias fenotípicas e predisposição para cancro."},"pl":{"name":"Zespół mozaikowej aneuploidii","synonyms":["Zespół Warburtona, Anyane'a i Yeboa"]},"cs":{"name":"Syndrom mozaikově pestré aneuploidie","synonyms":["Warburtonův-Anyaneho-Yeboaův syndrom","Warburton-Anyane-Yeboaův syndrom"]},"uk":{"name":"Синдром мозаїчної варіабельної анеуплоїдії","synonyms":["Синдром Уорбертона-Аньяне-Єбоа"],"definition":"Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition."},"zh":{"name":"镶嵌非整倍杂色体综合征","synonyms":["Warburton-Anyane-Yeboa综合征"]},"tr":{"name":"Alacalı mozaik anoploidi sendromu","synonyms":["Warburton-Anyane-Yeboa sendromu"]}},"xrefs":[{"source":"OMIM","code":"257300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614114","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617598","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620153","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620189","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"398235351"},{"source":"MONDO","code":"0000141","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536682","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551972","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"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":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":68335,"name":"Rare chromosomal anomaly","classifications":[147,156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"BUB1","name":"BUB1 mitotic checkpoint serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23747338[PMID]","hgnc":"1148","ensembl":"ENSG00000169679","omim":"602452","loci":["2q13"]},{"symbol":"BUB1B","name":"BUB1 mitotic checkpoint serine/threonine kinase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15475955[PMID]","hgnc":"1149","ensembl":"ENSG00000156970","omim":"602860","loci":["15q15.1"]},{"symbol":"BUB3","name":"BUB3 mitotic checkpoint protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23747338[PMID]","hgnc":"1151","ensembl":"ENSG00000154473","omim":"603719","loci":["10q26.13"]},{"symbol":"CEP57","name":"centrosomal protein 57","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001541","label":"Ascites","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent 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