{"orpha":96192,"name":"Paternal uniparental disomy of chromosome 7 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(7)pat"],"definition":"Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96192/","orphanet_url":"https://www.orpha.net/en/disease/detail/96192","names":{"fr":{"name":"Syndrome de disomie uniparentale paternelle du chromosome 7","synonyms":["UPD(7) paternelle","UPD(7)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 seul porteur (ex. mucoviscidose, diarrhée chlorée congénitale, surdité neurosensorielle)."},"de":{"name":"Uniparentale Disomie 7, paternale","synonyms":["UPDP 7"],"definition":"Paternale uniparentale Disomie von Chromosom 7 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 z. B. zystische Fibrose, kongenitale Chloriddiarrhoe, sensorineurale Schwerhörigkeit)."},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma 7","synonyms":["UPD(7)pat"],"definition":"La disomía uniparental paterna del cromosoma 7, es una disomía uniparental de origen paterno que muy 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 (p. ej., fibrosis quística, diarrea clorada congénita, pérdida auditiva neurosensorial)."},"it":{"name":"Sindrome disomia uniparentale paterna del cromosoma 7","synonyms":["UPD(7)pat"],"definition":"La disomia uniparentale paterna del cromosoma 7 è una disomia di origine paterna che 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 (fibrosi cistica, diarrea congenita da perdita di cloruri, sordità neurosensoriale)."},"nl":{"name":"Paternale uniparentale disomie van chromosoom 7-syndroom","synonyms":["UPD(7)pat"],"definition":"Paternale uniparentale disomie van chromosoom 7 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 (e.g. cystische fibrose, congenitale chloridediarree, sensorineuraal gehoorverlies)."},"pt":{"name":"Dissomia uniparental de origem paterna, cromossoma 7"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 7 pochodzenia ojcowskiego","synonyms":["UPD(7)pat"],"definition":"*Ojcowska jednorodzicielska disomia chromosomu 7 jest jednorodzicielską disomią pochodzenia ojcowskiego, która najprawdopodobniej nie wykazuje żadnej ekspresji fenotypowej, z wyjątkiem przypadków wystąpienia homozygotycznej mutacji warunkującej chorobę recesywną, której nosicielem jest tylko ojciec (np. mukowiscydoza, wrodzona biegunka chlorkowa, niedosłuch zmysłowo-nerwowy).inf brsup inf brsup"},"cs":{"name":"Paternální uniparentální dizomie chromozomu 7","synonyms":["UPD(7)pat"]},"uk":{"name":"Батькова уніпарентна дисомія хромосоми 7","synonyms":["UPD(7)pat"],"definition":"Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)."},"zh":{"name":"父源性7号染色体单亲二体","synonyms":["父源性UPD(7)"],"definition":"7号染色体父源单亲二倍体是指7号染色体的两条同源染色体均来自父亲，当父亲是隐性遗传疾病的携带者（例如囊性纤维化、先天性氯化物腹泻、感音神经性耳聋），可导致患儿的纯合变异致病，此外很可能没有任何表型。"},"tr":{"name":"7. kromozomun paternal uniparental dizomisi","synonyms":["UPD (7) 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":"1517671165"},{"source":"MONDO","code":"0019922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707802","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":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17935233[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17935233[PMID]"}],"phenotypes":null}