H00933 | |
H number | H00933 |
Name | Hereditary pancreatitis; Hereditary chronic pancreatitis |
Description | Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment of endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age of onset is early and differs from the cases of non-hereditary pancreatitis. |
Category | Digestive system disease |
Network | - |
Gene | PRSS1 [HSA:5644] [KO:K01312] SPINK1 [HSA:6690] [KO:K23417] CFTR [HSA:1080] [KO:K05031] PRSS2 [HSA:5645] [KO:K01312] CTRC [HSA:11330] [KO:K01311] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: DC32.2 ICD-10: K86.1 MeSH: D010195 OMIM: 167800 |
Reference | PMID:21907651 AUTHORS Rebours V, Levy P, Ruszniewski P TITLE An overview of hereditary pancreatitis. JOURNAL Dig Liver Dis 44:8-15 (2012) DOI:10.1016/j.dld.2011.08.003 PMID:17204147 AUTHORS Rosendahl J, Bodeker H, Mossner J, Teich N TITLE Hereditary chronic pancreatitis. JOURNAL Orphanet J Rare Dis 2:1 (2007) DOI:10.1186/1750-1172-2-1 PMID:17238030 AUTHORS Naruse S, Fujiki K, Ishiguro H TITLE Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage? JOURNAL J Gastroenterol 42 Suppl 17:60-5 (2007) DOI:10.1007/s00535-006-1934-7 PMID:15800694 AUTHORS Grigorescu M, Grigorescu MD TITLE Genetic factors in pancreatitis. JOURNAL Rom J Gastroenterol 14:53-61 (2005) PMID:8841182 (PRSS1) AUTHORS Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD TITLE Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. JOURNAL Nat Genet 14:141-5 (1996) DOI:10.1038/ng1096-141 PMID:10835640 (SPINK1) AUTHORS Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M TITLE Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. JOURNAL Nat Genet 25:213-6 (2000) DOI:10.1038/76088 PMID:9725921 (CFTR) AUTHORS Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J TITLE Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. JOURNAL N Engl J Med 339:645-52 (1998) DOI:10.1056/NEJM199809033391001 PMID:16699518 (PRSS2) AUTHORS Witt H, Sahin-Toth M, Landt O, Chen JM, Kahne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Marechal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Bock W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfutzer R, Lohr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Guldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Ferec C TITLE A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. JOURNAL Nat Genet 38:668-73 (2006) DOI:10.1038/ng1797 PMID:18172691 (CTRC) AUTHORS Masson E, Chen JM, Scotet V, Le Marechal C, Ferec C TITLE Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. JOURNAL Hum Genet 123:83-91 (2008) DOI:10.1007/s00439-007-0459-3 |