{"orpha":96188,"name":"Maternal uniparental disomy of chromosome 22 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(22)mat"],"definition":"Maternal uniparental disomy of chromosome 22 is 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-96188/","orphanet_url":"https://www.orpha.net/en/disease/detail/96188","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome 22","synonyms":["UPD(22) maternelle","UPD(22)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 22, maternale","synonyms":["UPD(22)mat"]},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 22","synonyms":["UPD(22)mat"],"definition":"Es una disomía uniparental de origen materno que no parece tener ningún efecto adverso en el fenotipo de un individuo. La homocigosidad para una mutación recesiva de la enfermedad de la cual la madre es portadora es posible, y el fenotipo específico depende del trastorno heredado."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma 22","synonyms":["UPD(22)mat"],"definition":"La disomia uniparentale materna del cromosoma 22 è una disomia che origina dalla madre e che di solito non ha effetti negativi sul fenotipo. Esiste 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 22-syndroom","synonyms":["UPD(22)mat"],"definition":"Maternale uniparentale disomie van chromosoom 22 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 22"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 22 pochodzenia matczynego","synonyms":["UPD(22)mat"],"definition":"*Matczyna jednorodzicielska disomia chromosomu 22 jest jednorodzicielską disomią pochodzenia matczynego, która prawdopodobnie nie wykazuje negatywnego wpływu na fenotyp. Istnieje możliwość wystąpienia homozygotyczności dla mutacji odpowiedzialnej za chorobę recesywną, jeśli matka jest nosicielką takiej mutacji. Specyficzny fenotyp związany jest z daną chorobą dziedziczną."},"cs":{"name":"Maternální uniparentální dizomie chromozomu 22","synonyms":["UPD(22)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 22","synonyms":["UPD(22)mat"],"definition":"Maternal uniparental disomy of chromosome 22 is 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22号染色体单亲二体","synonyms":["母源性UPD(22)"],"definition":"母源性22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":"22. kromozomun maternal uniparental dizomisi","synonyms":["UPD (22) 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":"752412918"},{"source":"MONDO","code":"0019919","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190524","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":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"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}