{"orpha":96185,"name":"Maternal uniparental disomy of chromosome 16 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(16)mat"],"definition":"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96185/","orphanet_url":"https://www.orpha.net/en/disease/detail/96185","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome 16","synonyms":["UPD(16) maternelle","UPD(16)mat"],"definition":"Disomie uniparentale maternelle qui peut être associée à un retard de croissance intra-utérin et à un risque élevé de malformations congénitales. Des cas de porteurs sains ont également été rapportés. Par ailleurs, des cas d'homozygotie pour une mutation récessive de la maladie dont la mère était porteuse ont été décrits, et un phénotype spécifique dépend de la maladie héritée."},"de":{"name":"Uniparentale Disomie 16, maternale","synonyms":["UPD(16)mat"]},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 16","synonyms":["UPD(16)mat"],"definition":"Es una disomía uniparental de origen materno que puede estar asociada con retraso del crecimiento intrauterino y un riesgo elevado de malformaciones congénitas. Además, se ha descrito la existencia de portadores sanos y casos de mutaciones recesivas en homocigosis de la enfermedad en la que la madre era portadora, el el fenotipo específico depende del trastorno heredado."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma 16","synonyms":["UPD(16)mat"],"definition":"La disomia uniparentale materna del cromosoma 16 è una disomia che origina dalla madre, che può associarsi a ritardo della crescita prenatale e ad un rischio elevato di malformazioni congenite. Sono stati descritti portatori sani e casi di omozigosi per una mutazione correlata ad una malattia recessiva, di cui solo la madre era portatrice. Il fenotipo specifico dipende dalla malattia trasmessa."},"nl":{"name":"Maternale uniparentale disomie van chromosoom 16-syndroom","synonyms":["UPD(16)mat"],"definition":"Maternale uniparentale disomie van chromosoom 16 is een uniparentale disomie van maternale oorsprong die kan geassocieerd zijn met intra-uteriene groeiretardatie en een verhoogd risico op congenitale malformaties. Gezonde dragers werden ook reeds gerapporteerd. Bijkomend werden gevallen beschreven met homozygositeit voor een recessieve mutatie van de ziekte waarvan de moeder drager was, en het specifieke fenotype hangt af van de overgeërfde stoornis."},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 16"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 16 pochodzenia matczynego","synonyms":["UPD(16)mat"],"definition":"*Matczyna jednorodzicielska disomia chromosomu 16 jest jednorodzicielską disomią pochodzenia matczynego, której może towarzyszyć wewnątrzmaciczne opóźnienie wzrastania i zwiększone ryzyko wrodzonych wad rozwojowych. Opisywano również obecność tego defektu u zdrowych nosicieli. Ponadto zgłaszano przypadki z homozygotyczną mutacją, odpowiedzialną za wystąpienie choroby o dziedziczeniu recesywnym, której nosicielką była matka, a specyficzny fenotyp związany był z daną chorobą dziedziczną.inf brsup inf brsup"},"cs":{"name":"Maternální uniparentální dizomie chromozomu 16","synonyms":["UPD(16)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 16","synonyms":["UPD(16)mat"],"definition":"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder."},"zh":{"name":"母源性16号染色体单亲二体","synonyms":["母源性UPD(16)"],"definition":"母源性16号染色体单亲二体是一种来源于母亲的单亲二体，可能与宫内发育迟缓和先天畸形的风险增高有关。健康携带者也有报道。此外，母亲是携带者的隐性遗传疾病基因突变纯合病例也被报道过，具体表型取决于所涉及的遗传性疾病。"},"tr":{"name":"16. kromozomun maternal uniparental dizomisi","synonyms":["UPD (16) mat"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD45.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"635736420"},{"source":"MONDO","code":"0019916","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750769","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98153,"name":"Maternal uniparental disomy syndrome","classifications":[147,156]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}