{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-183422/","orphanet_url":"https://www.orpha.net/en/disease/detail/183422","names":{"fr":{"name":"Syndrome polymalformatif génétique à risque de développer un cancer","definition":"Le syndrome polymalformatif génétique à risque de développer un cancer (SPGRDC) comprend un grand nombre de syndromes caractérisés par des malformations congénitales avec un risque élevé de développement de tumeurs incluant jusqu'à 50 différentes maladies rares."},"de":{"name":"Polymalformatives genetisches Syndrom mit erhöhter Krebsanfälligkeit","definition":"Das Polymalformative genetische Syndrom mit erhöhter Krebsanfälligkeit (PGSIRC) umfasst ein weites Spektrum angeborener Fehlbildungen mit einem hohen Risiko, Tumore zu entwickeln. Insgesamt sind bis zu 50 unterschiedliche seltene Erkrankungen beteiligt."},"es":{"name":"Síndromes genéticos polimalformativos con aumento del riesgo de desarrollar cáncer","definition":"Los síndromes genéticos polimalformativos con aumento del riesgo de desarrollar cáncer (PGSIRC) comprenden una amplia gama de síndromes que se caracterizan por malformaciones congénitas con un alto riesgo de desarrollar tumores. Esta categoría incluye más de 50 enfermedades raras diferentes."},"it":{"name":"Malattia genetica da malformazioni multiple associata a un rischio aumentato di tumore","definition":"La sindrome genetica polimalformativa associata a un aumentato rischio di tumore (PGSIRC) comprende una vasta gamma di sindromi, caratterizzate da malformazioni congenite e un elevato rischio di sviluppare i tumori; comprende oltre 50 diverse malattie rare."},"nl":{"name":"Polymalformatief genetisch syndroom met verhoogd risico op ontwikkeling van kanker","definition":"Polymalformatief genetisch syndroom met verhoogd risico op het ontwikkelen van kanker (PGSIRC) omvat een breed gamma aan syndromen die worden gekarakteriseerd door congenitale misvormingen met een verhoogd risico op de ontwikkeling van tumoren waaronder tot 50 verschillende zeldzame ziekten."},"pt":{"name":"Síndrome genético polimalformativo com risco aumentado de desenvolvimento de neoplasias"},"pl":{"name":"Zespół genetyczny z mnogimi wadami i zwiększonym ryzykiem rozwoju raka"},"cs":{"name":"Polymalformativní geneticky podmíněné syndromy se zvýšeným rizikem vzniku nádorů"},"uk":{"name":"Поліморбідний генетичний синдром з підвищеним ризиком розвитку раку","definition":"Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases."},"zh":{"name":"多发畸形遗传综合征伴肿瘤高风险","definition":"多畸形遗传综合征伴癌症风险增加（PGSIRC）包括一系列以先天性畸形为特征的综合征，这些畸形发展为50多种罕见肿瘤疾病的风险较高。"},"tr":{"name":"Kansere yakalanma riski yüksek olan polimalformatif genetik sendrom"}},"xrefs":[{"source":"MONDO","code":"15945","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680589","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[{"orpha":50,"name":"Aicardi syndrome","type":"Disease"},{"orpha":52,"name":"Alagille syndrome","type":"Malformation syndrome"},{"orpha":100,"name":"Ataxia-telangiectasia","type":"Disease"},{"orpha":251347,"name":"Ataxia-telangiectasia-like disorder","type":"Disease"},{"orpha":166113,"name":"Bazex syndrome","type":"Disease"},{"orpha":116,"name":"Beckwith-Wiedemann syndrome","type":"Malformation syndrome"},{"orpha":125,"name":"Bloom syndrome","type":"Disease"},{"orpha":169079,"name":"Cernunnos-XLF deficiency","type":"Disease"},{"orpha":191,"name":"Cockayne syndrome","type":"Disease"},{"orpha":3071,"name":"Costello syndrome","type":"Malformation syndrome"},{"orpha":220,"name":"Denys-Drash syndrome","type":"Disease"},{"orpha":124,"name":"Diamond-Blackfan anemia","type":"Disease"},{"orpha":84,"name":"Fanconi anemia","type":"Malformation syndrome"},{"orpha":347,"name":"Frasier syndrome","type":"Disease"},{"orpha":2128,"name":"Isolated hemihyperplasia","type":"Morphological anomaly"},{"orpha":99812,"name":"LIG4 syndrome","type":"Disease"},{"orpha":562,"name":"McCune-Albright syndrome","type":"Disease"},{"orpha":60040,"name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","type":"Malformation syndrome"},{"orpha":1052,"name":"Mosaic variegated aneuploidy syndrome","type":"Malformation syndrome"},{"orpha":2608,"name":"N syndrome","type":"Malformation syndrome"},{"orpha":647,"name":"Nijmegen breakage syndrome","type":"Malformation syndrome"},{"orpha":240760,"name":"Nijmegen breakage syndrome-like disorder","type":"Malformation syndrome"},{"orpha":648,"name":"Noonan syndrome","type":"Malformation syndrome"},{"orpha":500,"name":"Noonan syndrome with multiple lentigines","type":"Malformation syndrome"},{"orpha":363972,"name":"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia","type":"Malformation syndrome"},{"orpha":438134,"name":"PCNA-related progressive neurodegenerative photosensitivity syndrome","type":"Disease"},{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","type":"Disease"},{"orpha":2849,"name":"Perlman syndrome","type":"Malformation syndrome"},{"orpha":2869,"name":"Peutz-Jeghers syndrome","type":"Disease"},{"orpha":221016,"name":"Rothmund-Thomson syndrome type 2","type":"Clinical subtype"},{"orpha":783,"name":"Rubinstein-Taybi syndrome","type":"Malformation syndrome"},{"orpha":794,"name":"Saethre-Chotzen syndrome","type":"Malformation syndrome"},{"orpha":798,"name":"Schinzel-Giedion syndrome","type":"Malformation syndrome"},{"orpha":50944,"name":"Schöpf-Schulz-Passarge syndrome","type":"Disease"},{"orpha":811,"name":"Shwachman-Diamond syndrome","type":"Disease"},{"orpha":813,"name":"Silver-Russell syndrome","type":"Disease"},{"orpha":373,"name":"Simpson-Golabi-Behmel syndrome","type":"Malformation syndrome"},{"orpha":821,"name":"Sotos syndrome","type":"Disease"},{"orpha":805,"name":"Tuberous sclerosis complex","type":"Disease"},{"orpha":882,"name":"Tyrosinemia type 1","type":"Disease"},{"orpha":893,"name":"WAGR syndrome","type":"Malformation syndrome"},{"orpha":280558,"name":"Warsaw breakage syndrome","type":"Malformation syndrome"},{"orpha":902,"name":"Werner syndrome","type":"Disease"},{"orpha":906,"name":"Wiskott-Aldrich syndrome","type":"Disease"},{"orpha":910,"name":"Xeroderma pigmentosum","type":"Disease"},{"orpha":90342,"name":"Xeroderma pigmentosum variant","type":"Disease"},{"orpha":220295,"name":"Xeroderma pigmentosum-Cockayne syndrome complex","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}