{"orpha":1333,"name":"Familial pancreatic carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial pancreatic cancer"],"definition":"Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1333/","orphanet_url":"https://www.orpha.net/en/disease/detail/1333","names":{"fr":{"name":"Carcinome pancréatique familial","synonyms":["Cancer pancréatique familial"],"definition":"Le carcinome pancréatique familial est défini par la présence d'un cancer pancréatique (CP) chez au moins deux parents de premier degré du patient."},"de":{"name":"Pankreaskarzinom, familiäres","definition":"Das familiäre Pankreaskarzinom ist definiert durch das Auftreten von Pankreaskarzinomen (PC) bei zwei oder mehr Verwandten ersten Grades."},"es":{"name":"Carcinoma pancreático familiar","definition":"El carcinoma pancreático familiar se define por la presencia de cáncer pancreático (CP) en dos o más familiares de primer grado."},"it":{"name":"Carcinoma familiare del pancreas","synonyms":["Carcinoma del pancreas, forma familiare"]},"nl":{"name":"Familiaal carcinoom van pancreas","synonyms":["Familiaal carcinoom van alvleesklier","Familiaal pancreascarcinoom","Familiale pancreaskanker"],"definition":"Familiaal carcinoom van pancreas wordt gedefinieerd door de aanwezigheid van pancreaskanker (PC) bij twee of meer eerstegraadsverwanten."},"pt":{"name":"Carcinoma pancreático familiar","definition":"O carcinoma pancreático familiar é definido pela presença de cancro pancreático (PC) em dois ou mais parentes de primeiro grau."},"pl":{"name":"Rodzinny rak trzustki","synonyms":["Rodzinny rak trzustki"]},"cs":{"name":"Familiární karcinom pankreatu","synonyms":["Familiární pankreatická rakovina"]},"uk":{"name":"Сімейна карцинома підшлункової залози","synonyms":["Сімейний рак підшлункової залози"],"definition":"Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives."},"zh":{"name":"家族性胰腺癌","synonyms":["家族性胰腺癌"]},"tr":{"name":"Ailesel pankreas karsinomu","synonyms":["Ailesel pankreas kanseri"]}},"xrefs":[{"source":"OMIM","code":"260350","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606856","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613347","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613348","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614320","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C25","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2C10.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1385362916"},{"source":"MONDO","code":"0015278","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535837","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931038","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":165661,"name":"Genetic pancreatic disease","classifications":[156]},{"orpha":217074,"name":"Rare carcinoma of pancreas","classifications":[152,202]}],"children":[],"genes":[{"symbol":"RABL3","name":"RAB, member of RAS oncogene family like 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31406347[PMID]","hgnc":"18072","ensembl":"ENSG00000144840","omim":"618542","loci":["3q13.33"]},{"symbol":"BRCA1","name":"BRCA1 DNA repair associated","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"18855126[PMID]","hgnc":"1100","ensembl":"ENSG00000012048","omim":"113705","loci":["17q21.31"]},{"symbol":"BRCA2","name":"BRCA2 DNA repair associated","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12569143[PMID]","hgnc":"1101","ensembl":"ENSG00000139618","omim":"600185","loci":["13q13.1"]},{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25240578[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]},{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25240578[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"PALB2","name":"partner and localizer of BRCA2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20412113[PMID]_21365267[PMID]","hgnc":"26144","ensembl":"ENSG00000083093","omim":"610355","loci":["16p12.2"]},{"symbol":"PALLD","name":"palladin, cytoskeletal associated protein","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17194196[PMID]","hgnc":"17068","ensembl":"ENSG00000129116","omim":"608092","loci":["4q32.3"]},{"symbol":"SMAD4","name":"SMAD family member 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25240578[PMID]","hgnc":"6770","ensembl":"ENSG00000141646","omim":"600993","loci":["18q21.2"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25240578[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-02","source":"7545954[PMID]_19264984[PMID]_7597059[PMID]_2296965[PMID]","terms":[{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012334","label":"Extrahepatic cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005249","label":"Functional intestinal obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004389","label":"Intestinal pseudo-obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025318","label":"Ovarian carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100592","label":"Peritoneal abscess","frequency":"Occasional (29-5%)","criteria":null}]}}