{"orpha":220460,"name":"Attenuated familial adenomatous polyposis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AFAP","APC-related AFAP","APC-related attenuated FAP","APC-related attenuated familial polyposis coli","Attenuated FAP","Attenuated familial polyposis coli"],"definition":"A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220460/","orphanet_url":"https://www.orpha.net/en/disease/detail/220460","names":{"fr":{"name":"Polypose adénomateuse familiale atténuée","synonyms":["PAF attenuée","PAF attenuée liée à APC","PAFA","PAFA liée à APC","Polypose rectocolique familiale atténuée","Polypose rectocolique familiale atténuée liée à APC"],"definition":"Forme légère de polypose adénomateuse familiale caractérisée par la présence de moins de 100&nbsp;polypes adénomateux du côlon localisés dans la partie plus proximale, un âge plus tardif d'apparition du cancer colorectal et peu de symptômes extracoloniques."},"de":{"name":"Attenuierte familiäre adenomatöse Polyposis","synonyms":["APC-assoziierte attenuierte familiäre Polyposis coli","Attenuierte FAP","AFAP","APC-abhängige attenuierte FAP","APC-assoziierte Polyposis"],"definition":"Eine milde Form der familiären adenomatösen Polyposis, die durch das Vorhandensein von weniger als 100 adenomatösen Kolonpolypen, eine proximalere Kolonlokalisation, ein verzögertes Alter für das Auftreten von Darmkrebs und eine begrenztere Ausprägung der extrakolonischen Merkmale gekennzeichnet ist."},"es":{"name":"Poliposis adenomatosa familiar atenuada","synonyms":["PAF atenuada","PAF atenuada asociada a APC","PAFA","PAFA asociada a APC","Poliposis coli familiar atenuada","Poliposis coli familiar atenuada asociada a APC","Poliposis colónica familiar atenuada","Poliposis colónica familiar atenuada asociada a APC"],"definition":"Es una forma leve de poliposis adenomatosa familiar caracterizada por la presencia de menos de 100 pólipos colorrectales adenomatosos de localización preferentemente proximal, retraso en la edad de presentación del cancer colorrectal y una limitada expresión de manifestaciones extracolónicas."},"it":{"name":"Poliposi adenomatosa familiare attenuata","synonyms":["AFAP","FAP attenuata","Poliposi rettocolica familiare attenuata"],"definition":"Si tratta di una forma lieve di poliposi adenomatosa familiare, caratterizzata dalla presenza di meno di 100 polipi adenomatosi del colon localizzati in una porzione più prossimale, da un'età d'esordio del tumore colorettale più avanzata e da scarsi sintomi extracolonici."},"nl":{"name":"Geattenueerde familiale adenomateuze polyposis","synonyms":["AFAP","APC-gerelateerde AFAP","APC-gerelateerde geattenueerde FAP","APC-gerelateerde geattenueerde familiale polyposis coli","Geattenueerde FAP","Geattenueerde familiale polyposis coli"],"definition":"Een milde vorm van familiale adenomateuze polyposis, gekarakteriseerd door de aanwezigheid van minder dan 100 adenomateuze poliepen van colon, een meer proximale locatie van colon, een latere aanvangsleeftijd voor colorectale kanker, en een beperktere expressie van de extracolonische kenmerken."},"pt":{"name":"Polipose adenomatosa familiar atenuada","synonyms":["FAP atenuada APC-relacionada","Polipose colon familiar atenuada","Polipose do cólon atenuada familiar APC-relacionada","AFAP","AFAP APC-relacionada","FAP atenuada"]},"pl":{"name":"Postać poronna rodzinnej polipowatości gruczolakowatej","synonyms":["AFAP","Poronna FAP","Postać poronna rodzinnej polipowatości jelita grubego"]},"cs":{"name":"Atenuovaná familiární adenomatózní polypóza","synonyms":["AFAP","Atenuovaná FAP","Atenuovaná familiární polyposis coli"]},"uk":{"name":"Послаблений сімейний аденоматозний поліпоз","synonyms":["AFAP","Послаблений сімейний поліпоз кишкової палички","Ослаблений ФАП"],"definition":"A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features."},"zh":{"name":"家族性腺瘤性息肉病轻型","synonyms":["轻型家族性结肠息肉病"],"definition":"一种表型较轻的家族性腺瘤性息肉病，其特征是腺瘤性结肠息肉少于100个，更靠近结肠近端，结直肠癌发病年龄较晚，结肠外特征表现有限。"},"tr":{"name":"Zayıflatılmış ailesel adenomatöz polipoz","synonyms":["AFAP","Zayıflatılmış FAP","Zayıflatılmış ailesel polipoz koli"]}},"xrefs":[{"source":"OMIM","code":"175100","qualifier":"NTBT","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":"1023083906"},{"source":"MONDO","code":"0016362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538265","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2674616","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8532","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":247806,"name":"OBSOLETE: APC-related attenuated familial adenomatous 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]}],"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":"17489848[PMID]","hgnc":"583","ensembl":"ENSG00000134982","omim":"611731","loci":["5q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-09","source":"27476653[PMID]_22976915[PMID]_17938238[PMID]_22525412[PMID]_19822006[PMID]_14902760[PMID]_8747580[PMID]_11156460[PMID]_18046442[PMID]_21209732[PMID]_15300576[PMID]","terms":[{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004783","label":"Duodenal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030255","label":"Large intestinal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004394","label":"Multiple gastric polyps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006753","label":"Neoplasm of the stomach","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100896","label":"Rectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040276","label":"Adenocarcinoma of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000854","label":"Thyroid adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000131","label":"Uterine leiomyoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008256","label":"Adrenocortical adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006744","label":"Adrenocortical carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002672","label":"Gastrointestinal carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002895","label":"Papillary thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007649","label":"Congenital hypertrophy of retinal pigment epithelium","frequency":"Excluded (0%)","criteria":null}]}}