{"orpha":251004,"name":"Paternal uniparental disomy of chromosome 1 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(1)pat"],"definition":"Paternal uniparental disomy of chromosome 1 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-251004/","orphanet_url":"https://www.orpha.net/en/disease/detail/251004","names":{"fr":{"name":"Syndrome de disomie uniparentale d'origine paternelle du chromosome 1","synonyms":["UPD(1) paternelle","UPD(1)pat"],"definition":"Disomie uniparentale d'origine paternelle, qui n'a probablement pas d'expression phénotypique, sauf en cas d'homozygotie pour une mutation récessive dont le père est le porteur."},"de":{"name":"Uniparentale Disomie 1, paternale","synonyms":["UPD(1)pat"],"definition":"Paternale uniparentale Disomie von Chromosom 1 ist eine uniparentale Disomie väterlichen Ursprungs, die höchstwahrscheinlich keine phänotypische Ausprägung hat (außer in Fällen von Homozygotie für eine rezessive Krankheitsmutation, für die nur der Vater Träger ist)."},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma 1","synonyms":["UPD(1)pat"],"definition":"La disomía uniparental paterna del cromosoma 1 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 1","synonyms":["UPD(1)pat"],"definition":"La disomia uniparentale paterna del cromosoma 1 è una disomia uniparentale di origine paterna che non ha effetti significativi sul fenotipo, ad eccezione dei casi di omozigosi per una mutazione recessiva correlata ad una malattia, di cui solo il padre è portatore."},"nl":{"name":"Paternale uniparentale disomie van chromosoom 1-syndroom","synonyms":["UPD(1)pat"],"definition":"Paternale uniparentale disomie van chromosoom 1 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 paterna do cromossoma 1","synonyms":["UPD1 paterna"]},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 1 pochodzenia ojcowskiego","synonyms":["UPD(1)pat"]},"cs":{"name":"Paternální uniparentální dizomie chromozomu 1","synonyms":["UDP(1)pat"]},"uk":{"name":"Батькова уніпаретна дисомія хромосоми 1","synonyms":["UPD(1)pat"],"definition":"Paternal uniparental disomy of chromosome 1 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1号染色体单亲二体","synonyms":["父源1号染色体单亲二倍体"],"definition":"1号染色体的父本单亲二体是一种起源于父本的单亲二体，除了隐性疾病突变的纯合子病例(只有父亲是携带者)外，这种二体很可能没有任何表型表达。"},"tr":{"name":"1. kromozomun paternal uniparental dizomisi","synonyms":["UPD (1) 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":"1239235576"},{"source":"MONDO","code":"0016650","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707800","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":["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":"21270828[PMID]_17277736[PMID]_11071380[PMID]_10951251[PMID]_15663509[PMID]_21270828[PMID]_24334170[PMID]_26846731[PMID]_23275530[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030612","label":"Abnormal retinal morphology on macular OCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004802","label":"Episodic hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003138","label":"Increased blood urea nitrogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007754","label":"Macular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000793","label":"Membranoproliferative glomerulonephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","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:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}