{"orpha":96187,"name":"Maternal uniparental disomy of chromosome 21 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(21)mat"],"definition":"A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96187/","orphanet_url":"https://www.orpha.net/en/disease/detail/96187","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome 21","synonyms":["UPD(21) maternelle","UPD(21)mat"],"definition":"Disomie uniparentale maternelle qui ne semble pas avoir d'impact négatif sur le phénotype d'un individu. L'homozygotie pour une mutation récessive dont la mère est porteuse est possible et le phénotype spécifique dépend de la maladie héritée."},"de":{"name":"Uniparentale Disomie 21, maternale","synonyms":["UPD(21)mat"]},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 21","synonyms":["UPD(21)mat"],"definition":"Es una disomía uniparental de origen materno que no parece tener un efecto adverso en el fenotipo de un individuo. Existe la posibilidad de homocigosidad para una mutación de una enfermedad recesiva para la cual la madre sea portadora, en cuyo caso, el fenotipo específico dependerá del trastorno heredado."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma 21","synonyms":["UPD(21)mat"],"definition":"La disomia uniparentale materna del cromosoma 21 è una disomia uniparentale di origine materna che non ha effetti significativi sul fenotipo. Esiste tuttavia la possibilità di omozigosi per una malattia recessiva, di cui la madre è portatrice; il fenotipo dipende specificamente dalla malattia trasmessa."},"nl":{"name":"Maternale uniparentale disomie van chromosoom 21-syndroom","synonyms":["UPD(21)mat"],"definition":"Maternale uniparentale disomie van chromosoom 21 is een uniparentale disomie van maternale oorsprong die geen nadelige invloed lijkt te hebben op het fenotype van een individu. Er is mogelijk homozygositeit voor een recessieve mutatie van de ziekte waarvan de moeder drager is, en het specifieke fenotype hangt af van de overgeërfde stoornis."},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 21"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 21 pochodzenia matczynego","synonyms":["UPD(21)mat"],"definition":"*Matczyna jednorodzicielska disomia chromosomu 21 jest jednorodzicielską disomią pochodzenia matczynego, która nie wydaje się mieć niekorzystnego wpływu na fenotyp. Istnieje możliwość wystąpienia homozygotycznej mutacji patogennej, odpowiedzialnej za chorobę recesywną, której nosicielką jest matka, a określony fenotyp zależy od choroby genetycznej."},"cs":{"name":"Maternální uniparentální dizomie chromozomu 21","synonyms":["UPD(21)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 21","synonyms":["UPD(21)mat"],"definition":"A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder."},"zh":{"name":"母源性21号染色体单亲二体","synonyms":["母源性UPD(21)"],"definition":"母源性21号染色体单亲二体是来源于母亲的单亲二体，似乎对个体的表型没有不良影响。有可能出现母亲是携带者的隐性遗传疾病基因突变纯合子，具体表型取决于所涉及的遗传性疾病。"},"tr":{"name":"21. kromozomun maternal uniparental dizomisi","synonyms":["UPD (21) 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":"553200266"},{"source":"MONDO","code":"0019918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190523","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"ISBN:978-3-642-55287-8[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN:978-3-642-55287-8[OTHER]"}],"phenotypes":null}