{"orpha":96191,"name":"Paternal uniparental disomy of chromosome 6 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(6)pat"],"definition":"Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96191/","orphanet_url":"https://www.orpha.net/en/disease/detail/96191","names":{"fr":{"name":"Syndrome de disomie uniparentale paternelle du chromosome 6","synonyms":["UPD(6) paternelle","UPD(6)pat"],"definition":"Disomie uniparentale paternelle caractérisée par un retard de croissance intra-utérin, un diabète sucré néonatal transitoire et une macroglossie."},"de":{"name":"Uniparentale Disomie 6, paternale","synonyms":["UPD(6)pat","UPDP 6"]},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma 6","synonyms":["UPD(6)pat"],"definition":"La disomía uniparental paterna del cromosoma 6, es una disomía uniparental de origen paterno caracterizada por retraso del crecimiento intrauterino, diabetes mellitus neonatal transitoria y macroglosia."},"it":{"name":"Sindrome disomia uniparentale paterna del cromosoma 6","synonyms":["UPD(6)pat"],"definition":"La disomia uniparentale paterna del cromosoma 6 è una disomia che origina dal padre ed è caratterizzata da ritardo della crescita prenatale, diabete mellito neonatale transitorio e macroglossia."},"nl":{"name":"Paternale uniparentale disomie van chromosoom 6-syndroom","synonyms":["UPD(6)pat"],"definition":"Paternale uniparentale disomie van chromosoom 6 is een uniparentale disomie van paternale oorsprong en wordt gekarakteriseerd door intra-uteriene groeiretardatie, transiënte neonatale diabetes mellitus, en macroglossie."},"pt":{"name":"Dissomia uniparental de origem paterna, cromossoma 6"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 6 pochodzenia ojcowskiego","synonyms":["UPD(6)pat"],"definition":"*Ojcowska jednorodzicielska disomia chromosomu 6 to jednorodzicielską disomia pochodzenia ojcowskiego, która charakteryzuje się wewnątrzmacicznym opóźnieniem wzrastania, przemijającą cukrzycą noworodków i makroglosją (powiększeniem języka)."},"cs":{"name":"Paternální uniparentální dizomie chromozomu 6","synonyms":["UPD(6)pat"]},"uk":{"name":"Батькова уніпарентна дисомія хромосоми 6","synonyms":["UPD(6)pat"],"definition":"Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia."},"zh":{"name":"父源性6号染色体单亲二体","synonyms":["父源性UPD(6)"],"definition":"6号染色体父源单亲二倍体是指6号染色体的两条同源染色体均来自父亲，其特征是宫内发育迟缓、短暂性新生儿糖尿病和巨舌症。"},"tr":{"name":"6. kromozomun paternal uniparental dizomisi"}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD45.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1267556610"},{"source":"MONDO","code":"0019921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98154,"name":"Paternal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"HYMAI","name":"hydatidiform mole associated and imprinted","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Not yet assessed","source":null,"hgnc":"5326","ensembl":"ENSG00000283122","omim":"606546","loci":["6q24.2"]},{"symbol":"PLAGL1","name":"PLAG1 like zinc finger 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Not yet assessed","source":null,"hgnc":"9046","ensembl":"ENSG00000118495","omim":"603044","loci":["6q24.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-17","source":"11448939[PMID]_10936046[PMID]_18486206[PMID]_11515731[PMID]_11038325[PMID]_9039998[PMID]_9894800[PMID]_11334617[PMID]_19114626[PMID]_20186794[PMID]_20412110[PMID]_25124546[PMID]","terms":[{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000065","label":"Labial hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000857","label":"Neonatal insulin-dependent diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000237","label":"Small anterior fontanelle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010866","label":"Abdominal wall defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100767","label":"Abnormality of the placenta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}