{"orpha":733,"name":"Familial adenomatous polyposis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Colorectal adenomatous polyposis","FAP","Familial polyposis coli"],"definition":"A rare intestinal polyposis syndrome characterized by the development of up to hundreds to thousands of adenomas in the large bowel. It is a multi-system disorder with important extracolonic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-733/","orphanet_url":"https://www.orpha.net/en/disease/detail/733","names":{"fr":{"name":"Polypose adénomateuse familiale","synonyms":["FAP","PAF","Polypose adénomateuse colorectale","Polypose rectocolique familiale"],"definition":"Syndrome rare de polypose intestinale caractérisé par le développement de centaines, voire de milliers d'adénomes dans le gros intestin. Il s'agit d'une maladie multisystémique avec d'importantes manifestations extracoloniques."},"de":{"name":"Polyposis, adenomatöse familiäre","synonyms":["FAP","Polypen, adenomatöse kolorektale"],"definition":"Ein seltenes intestinales Polyposis-Syndrom, das durch die Entwicklung von Hunderten bis Tausenden von Adenomen im Dickdarm gekennzeichnet ist. Es handelt sich um eine Multisystemerkrankung mit wichtigen extrakolonischen Manifestationen."},"es":{"name":"Poliposis adenomatosa familiar","synonyms":["PAF","Poliposis adenomatosa coli","Poliposis adenomatosa colorrectal"],"definition":"Es un síndrome de poliposis intestinal poco frecuente caracterizado por el desarrollo de cientos o miles de adenomas en el intestino grueso. Es un trastorno multisistémico con importantes manifestaciones extracolónicas."},"it":{"name":"Poliposi adenomatosa familiare","synonyms":["FAP","Poliposi adenomatosa colorettale","Poliposi familiare del colon"],"definition":"La poliposi adenomatosa familiare (FAP) è caratterizzata da comparsa, nella seconda decade di vita, di centinaia o migliaia di adenomi nel retto e nel colon."},"nl":{"name":"Familiale adenomateuze polyposis","synonyms":["Colorectale adenomateuze polyposis","FAP","Familiale polyposis coli"],"definition":"Een zeldzaam polyposissyndroom van darm, gekenmerkt door ontwikkeling van honderden tot wel duizenden adenomen in de dikke darm. Het is een multisystemische aandoening met belangrijke manifestaties buiten de darm."},"pt":{"name":"Polipose adenomatosa familiar","synonyms":["FAP","PAF","Polipose adenomatosa colorretal dominante","Polipose adenomatosa familiar autossómica dominante","Síndrome Gardner"],"definition":"A polipose adenomatosa familiar (FAP) é caracterizada pelo desenvolvimento de centenas a milhares de adenomas no reto e cólon durante a 2ª década de vida."},"pl":{"name":"Rodzinna polipowatość gruczolakowata","synonyms":["FAP","Polipowatość gruczolakowata jelita grubego","Rodzinna polipowatość jelita"],"definition":"Rodzinna polipowatość gruczolakowata (FAP) charakteryzuje się rozwojem setek -tysięcy gruczolaków w odbytnicy i okrężnicy już w drugiej dekadzie życia."},"cs":{"name":"Familiární adenomatózní polypóza","synonyms":["Kolorektální adenomatózní polypóza","FAP","Familiární střevní polypóza","Familiární polypóza střev"],"definition":"Familiární adenomatózní polypóza (FAP) je onemocnění typické tvorbou stovky až tisíce adenomů (polypů) v konečníku a tlustém střevě již během druhé dekády života."},"uk":{"name":"Сімейний аденоматозний поліпоз","synonyms":["Аденоматозний поліпоз товстої кишки","Сімейний поліпоз coli","FAP"],"definition":"Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life."},"zh":{"name":"家族性腺瘤性息肉病","synonyms":["结直肠腺瘤性息肉病"]},"tr":{"name":"Ailesel adenomatöz polipoz","synonyms":["FAP","Ailesel polipoz koli","Kolorektal adenomatöz polipoz"]}},"xrefs":[{"source":"OMIM","code":"175100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608456","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616415","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1497254317"},{"source":"MONDO","code":"0021055","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011125","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032580","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6408","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056981","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79665,"name":"Gardner syndrome","status":"inactive"},{"type":"Moved to","orpha":99818,"name":"Turcot syndrome with polyposis","status":"inactive"}],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":271835,"name":"Genetic digestive tract tumor","classifications":[156]},{"orpha":363314,"name":"Genetic intestinal polyposis","classifications":[156]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]},{"orpha":716393,"name":"Rare disorder with non-progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"APC","name":"APC regulator of Wnt signaling pathway","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31070935[PMID]","hgnc":"583","ensembl":"ENSG00000134982","omim":"611731","loci":["5q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2011[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":19.0,"area":"Denmark","status":"Validated","source":"12692062[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.65,"area":"Denmark","status":"Validated","source":"12692062[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":8.6,"area":"Sweden","status":"Validated","source":"10636071[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Sweden","status":"Validated","source":"10636071[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":15.8,"area":"Finland","status":"Validated","source":"1314763[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.63,"area":"Finland","status":"Validated","source":"1314763[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.6,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.3,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Australia","status":"Validated","source":"2556632[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Australia","status":"Validated","source":"2556632[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-07","source":"20301519[PMID]_31070935[PMID]","terms":[{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007649","label":"Congenital hypertrophy of retinal pigment epithelium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100245","label":"Desmoid tumors","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007378","label":"Neoplasm of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004783","label":"Duodenal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004394","label":"Multiple gastric polyps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100246","label":"Osteoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025388","label":"Thyroid nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100717","label":"Abnormality of the cementum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008256","label":"Adrenocortical adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010615","label":"Angiofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006771","label":"Duodenal adenocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100631","label":"Neoplasm of the adrenal gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011068","label":"Odontoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002895","label":"Papillary thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000706","label":"Unerupted tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040274","label":"Adenocarcinoma of the small intestine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005230","label":"Biliary tract obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030153","label":"Cholangiocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002888","label":"Ependymoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002885","label":"Medulloblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100575","label":"Neoplasm of the gallbladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031459","label":"Soft tissue neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Very rare (<4-1%)","criteria":null}]}}