KEGG   DISEASE: H00933Help
Entry
H00933                      Disease                                

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
Pancreas disease
BRITE hierarchy
Pathway
Pancreatic secretion
Protein digestion and absorption  
Gastric acid secretion
Bile secretion
Gene
PRSS1 (gain of function) [HSA:5644] [KO:K01312]
SPINK1 (loss of function) [HSA:6690]
CFTR (polymorphysm) [HSA:1080] [KO:K05031]
PRSS2 [HSA:5645] [KO:K01312]
CTRC (polymorphysm) [HSA:11330] [KO:K01311]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21907651 (description, gene)
  Authors
Rebours V, Levy P, Ruszniewski P
  Title
An overview of hereditary pancreatitis.
  Journal
Dig Liver Dis 44:8-15 (2012)
Reference
PMID:17204147 (description, gene)
  Authors
Rosendahl J, Bodeker H, Mossner J, Teich N
  Title
Hereditary chronic pancreatitis.
  Journal
Orphanet J Rare Dis 2:1 (2007)
Reference
PMID:17238030 (description, gene)
  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)
Reference
PMID:15800694 (gene)
  Authors
Grigorescu M, Grigorescu MD
  Title
Genetic factors in pancreatitis.
  Journal
Rom J Gastroenterol 14:53-61 (2005)
Reference
PMID:16699518 (gene)
  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)
Reference
PMID:18172691 (gene)
  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)

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