{"orpha":96190,"name":"Paternal uniparental disomy of chromosome 5 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(5)pat"],"definition":"Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96190/","orphanet_url":"https://www.orpha.net/en/disease/detail/96190","names":{"fr":{"name":"Syndrome de disomie uniparentale paternelle du chromosome 5","synonyms":["UPD(5) paternelle","UPD(5)pat"],"definition":"Disomie uniparentale paternelle qui n'a probablement aucune expression phénotypique, sauf dans les cas d'homozygotie pour une mutation récessive de la maladie dont seul le père est porteur."},"de":{"name":"Uniparentale Disomie 5, paternale","synonyms":["UPD(5)pat"]},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma 5","synonyms":["UPD(5)pat"],"definition":"La disomía uniparental paterna del cromosoma 5 es una disomía uniparental de origen paterno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo el padre es portador y en el que esta disomía implicaría que la mutación estuviese en homocigosis."},"it":{"name":"Sindrome disomia uniparentale paterna del cromosoma 5","synonyms":["UPD(5)pat"],"definition":"La disomia uniparentale paterna del cromosoma 5 è una disomia che origina dal padre 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 il padre è portatore."},"nl":{"name":"Paternale uniparentale disomie van chromosoom 5-syndroom","synonyms":["UPD(5)pat"],"definition":"Paternale uniparentale disomie van chromosoom 5 is een uniparentale disomie van paternale oorsprong die waarschijnlijk geen fenotypische expressie vertoont, behalve in gevallen van homozygositeit voor een recessieve ziektemutatie waarvan enkel de vader een drager is."},"pt":{"name":"Dissomia uniparental de origem paterna, cromossoma 5"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 5 pochodzenia ojcowskiego","synonyms":["UPD(5)pat"],"definition":"*Ojcowska jednorodzicielska disomia chromosomu 5 to jednorodzicielska disomia pochodzenia ojcowskiego, która najprawdopodobniej nie wykazuje żadnej fenotypowej ekspresji, z wyjątkiem przypadków wystąpienia stanu homozygotyczności mutacji, odpowiedzialnej za chorobę recesywną, której nosicielem jest tylko ojciec."},"cs":{"name":"Paternální uniparentální dizomie chromozomu 5","synonyms":["UPD(5)pat"]},"uk":{"name":"Батькова уніпарентна дисомія хромосоми 5","synonyms":["UPD(5)pat"],"definition":"Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier."},"zh":{"name":"父源性5号染色体单亲二体","synonyms":["父源性UPD(5)"],"definition":"5号染色体父源单亲二倍体是指5号染色体的两条同源染色体均来自父亲，如果父亲是携带者，可导致隐性疾病突变纯合子情况，此外很可能没有任何表型。"},"tr":{"name":"5. kromozomun paternal uniparental dizomisi","synonyms":["UPD (5) pat"]}},"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":"1224981751"},{"source":"MONDO","code":"0019920","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749377","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-21","source":"24458706[PMID]_16763011[PMID]","terms":[{"hpo":"HP:0010593","label":"Abnormality of fibular epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001090","label":"Abnormally large globe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002654","label":"Multiple epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011327","label":"Posterior plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004991","label":"Rhizomelic arm shortening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Very frequent (99-80%)","criteria":null}]}}