{"orpha":676,"name":"Autosomal dominant hereditary chronic pancreatitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-676/","orphanet_url":"https://www.orpha.net/en/disease/detail/676","names":{"fr":{"name":"Pancréatite chronique héréditaire autosomique dominante","definition":"Maladie gastroentérologique rare qui se caractérise par une pancréatite aiguë récurrente et/ou une pancréatite chronique chez au moins deux membres de la même famille au premier degré, ou minimum trois membres de la famille au second degré chez au moins deux générations, en l'absence de facteurs de prédisposition identifiés. Cette forme héréditaire rare de pancréatite entraîne des lésions irréversibles des composants exocrines et endocrines du pancréas."},"de":{"name":"Pankreatitis, chronische hereditäre, autosomal-dominante","definition":"Eine seltene gastroenterologische Erkrankung, die durch rezidivierende akute Pankreatitis und/oder chronische Pankreatitis bei mindestens 2 Verwandten ersten Grades oder 3 oder mehr Verwandten zweiten Grades in 2 oder mehr Generationen gekennzeichnet ist und für die keine prädisponierenden Faktoren identifiziert wurden. Diese seltene vererbte Form der Pankreatitis führt zu einer irreversiblen Schädigung sowohl der exokrinen als auch der endokrinen Komponenten des Pankreas."},"es":{"name":"Pancreatitis crónica hereditaria autosómica dominante","definition":"Es una enfermedad gastroenterológica poco frecuente caracterizada por pancreatitis aguda recurrente y/o pancreatitis crónica que está presente en al menos dos familiares de primer grado o en tres o más familiares de segundo grado en dos o más generaciones, para los que no se ha identificado ningún factor de predisposición. Esta forma hereditaria e infrecuente de pancreatitis se caracteriza por daño irreversible en los componentes pancreáticos, tanto exocrinos como endocrinos."},"it":{"name":"Pancreatite cronica ereditaria","definition":"La pancreatite cronica ereditaria (HCP) è una malattia gastrointestinale rara, caratterizzata da pancreatite acuta ricorrente e/o pancreatite cronica in almeno due consanguinei di primo grado, o in tre o più consanguinei di secondo grado su due o più generazioni, nei quali non sono stati individuati fattori di predisposizione. Questa forma rara ed ereditaria di pancreatite causa un danno irreversibile sia alla porzione esocrina che a quella endocrina del pancreas."},"nl":{"name":"Autosomaal dominante hereditaire chronische pancreatitis","definition":"Een zeldzame gastro-enterologische ziekte gekarakteriseerd door recurrente acute pancreatitis en/of chronische pancreatitis in minstens 2 eerstegraadsverwanten, of 3 of meer tweedegraadsverwanten in 2 of meer generaties, waarvoor geen predisponerende factoren werden geïdentificeerd. Deze zeldzame, erfelijke vorm van pancreatitis leidt tot onomkeerbare schade aan zowel de exocriene als endocriene componenten van de pancreas."},"pt":{"name":"Pancreatite crónica hereditária autossómica dominante"},"pl":{"name":"Dziedziczne przewlekłe zapalenie trzustki"},"cs":{"name":"Hereditární chronická pankreatitida"},"uk":{"name":"Спадковий хронічний панкреатит","definition":"A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas."},"zh":{"name":"遗传性慢性胰腺炎"},"tr":{"name":"Kalıtsal kronik pankreatit"}},"xrefs":[{"source":"OMIM","code":"167800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K86.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DC32.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008185","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238339","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6632","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165661,"name":"Genetic pancreatic disease","classifications":[156]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":101937,"name":"Rare pancreatic disease","classifications":[152]}],"children":[],"genes":[{"symbol":"CASR","name":"calcium sensing receptor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"26166472[PMID]","hgnc":"1514","ensembl":"ENSG00000036828","omim":"601199","loci":["3q13.33-q21.1"]},{"symbol":"CTRC","name":"chymotrypsin C","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"18059268[PMID]_23601753[PMID]_22539344[PMID]","hgnc":"2523","ensembl":"ENSG00000162438","omim":"601405","loci":["1p36.21"]},{"symbol":"PRSS2","name":"serine protease 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"18461367[PMID]","hgnc":"9483","ensembl":"ENSG00000275896","omim":"601564","loci":["7q34"]},{"symbol":"PRSS1","name":"serine protease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23864476[PMID]_22379635[PMID]","hgnc":"9475","ensembl":"ENSG00000204983","omim":"276000","loci":["7q34"]},{"symbol":"CPA1","name":"carboxypeptidase A1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23955596[PMID]_24522117[PMID]","hgnc":"2296","ensembl":"ENSG00000091704","omim":"114850","loci":["7q32.2"]},{"symbol":"TRPV6","name":"transient receptor potential cation channel subfamily V member 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31930989[PMID]","hgnc":"14006","ensembl":"ENSG00000165125","omim":"606680","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"France","status":"Validated","source":"18755888[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.57,"area":"Denmark","status":"Validated","source":"20502448[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"Europe","status":"Validated","source":"18755888[PMID]_20502448[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-28","source":"9091646[PMID]_27603351[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100027","label":"Recurrent pancreatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005213","label":"Pancreatic calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030247","label":"Splanchnic vein thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}