{"orpha":251009,"name":"Maternal uniparental disomy of chromosome 1 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(1)mat"],"definition":"Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does 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-251009/","orphanet_url":"https://www.orpha.net/en/disease/detail/251009","names":{"fr":{"name":"Syndrome de disomie uniparentale d'origine maternelle du chromosome 1","synonyms":["UPD(1) maternelle","UPD(1)mat"],"definition":"Disomie uniparentale maternelle qui n'a probablement pas d'expression phénotypique, sauf dans les cas d'homozygotie pour une mutation récessive dont seule la mère est porteuse."},"de":{"name":"Uniparentale Disomie 1, maternale","synonyms":["UPD(1)mat"]},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 1","synonyms":["UPD(1)mat"],"definition":"La disomía uniparental materna del cromosoma 1 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 1","synonyms":["UPD(1)mat"],"definition":"La disomia uniparentale materna del cromosoma 1 è una disomia uniparentale 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 1-syndroom","synonyms":["UPD(1)mat"],"definition":"Maternale uniparentale disomie van chromosoom 1 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 materna do cromossoma 1","synonyms":["UPD1 materna"]},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 1 pochodzenia matczynego","synonyms":["UPD(1)mat"],"definition":"*Matczyna jednorodzicielska disomia chromosomu 1 jest jednorodzicielską disomią pochodzenia matczynego, która najprawdopodobniej nie wiąże się z żadną ekspresją fenotypową, z wyjątkiem przypadków wystąpienia homozygotycznej mutacji odpowiedzialnej za chorobą recesywną, której nosicielką jest tylko matka."},"cs":{"name":"Maternální uniparentální dizomie chromozomu 1","synonyms":["UDP(1)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 1","synonyms":["UPD(1)mat"],"definition":"Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier."},"zh":{"name":"母源1号染色体单亲二体","synonyms":["母源1号染色体单亲二倍体"],"definition":"1号染色体的母系单亲二体是一种母系起源的单亲二体，除了隐性疾病突变的纯合子(仅母亲是携带者)外，很可能没有任何表型表达。"},"tr":{"name":"1. kromozomun maternal uniparental dizomisi","synonyms":["UPD (1) 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":"351448323"},{"source":"MONDO","code":"0016651","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749302","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":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-17","source":"9326326[PMID]_9758608[PMID]_17702006[PMID]_20583171[PMID]_22689986[PMID]_23684670[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002813","label":"Abnormality of limb bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001476","label":"Delayed closure of the anterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003139","label":"Panhypogammaglobulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009909","label":"Uplifted earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}