{"orpha":97678,"name":"Maternal uniparental disomy of chromosome 13 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(13)mat"],"definition":"Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97678/","orphanet_url":"https://www.orpha.net/en/disease/detail/97678","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome 13","synonyms":["UPD(13) maternelle","UPD(13)mat"],"definition":"Disomie uniparentale maternelle qui n'a probablement pas d'expression phénotypique, sauf dans les cas d'homozygotie pour une mutation récessive de la maladie dont seule la mère est porteuse."},"de":{"name":"Uniparentale Disomie 13, maternale","synonyms":["UPD(13)mat"]},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 13","synonyms":["UPD(13)mat"],"definition":"La disomía uniparental materna del cromosoma 13 es una disomía uniparental de origen materno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo la madre es portadora y en el que esta disomía implicaría que la mutación estuviese en homocigosis."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma 13","synonyms":["UPD(13)mat"],"definition":"La disomia uniparentale materna del cromosoma 13 è una disomia che origina dalla madre e di solito non ha effetti sul fenotipo, ad eccezione dei casi di omozigosi per una mutazione responsabile di una malattia recessiva, di cui solo la madre è portatrice."},"nl":{"name":"Maternale uniparentale disomie van chromosoom 13-syndroom","synonyms":["UPD(13)mat"],"definition":"Maternale uniparentale disomie van chromosoom 13 is een uniparentale disomie van maternale oorsprong die waarschijnlijk geen fenotypische expressie vertoont, behalve in gevallen van homozygositeit voor een recessieve ziektemutatie waarvan enkel de moeder een drager is."},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 13"},"pl":{"name":"ZespZespół jednorodzicielskiej disomii chromosomu 13 pochodzenia matczynego","synonyms":["UPD(13)mat"],"definition":"*Matczyna jednorodzicielska disomia chromosomu 13 to jednorodzicielska disomia pochodzenia matczynego, która najprawdopodobniej nie wykazuje żadnej ekspresji fenotypowej, z wyjątkiem przypadków wystąpienia stanu homozygotyczności mutacji, powodującej chorobę recesywną, której nosicielką jest tylko matka."},"cs":{"name":"Maternální uniparentální dizomie chromozomu 13","synonyms":["UPD(13)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 13","synonyms":["UPD(13)mat"],"definition":"Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier."},"zh":{"name":"母系13号染色体单亲二体型","synonyms":["母源性UPD(13)"],"definition":"13号染色体的母源性单亲二倍体是指13号染色体的两条同源染色体均来自母亲，除了当母亲是携带者并导致隐性疾病突变的纯合子现象外，很可能没有任何表型。"},"tr":{"name":"13. kromozomun maternal uniparental dizomisi","synonyms":["UPD (13)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":"729188840"},{"source":"MONDO","code":"0019994","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4722325","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":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"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}