KEGG   DISEASE: Hereditary pancreatitis
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
Human diseases [BR:br08402]
 Digestive system diseases
  Pancreas diseases
   H00933  Hereditary pancreatitis
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases of pancreas
   DC32  Chronic pancreatitis
    H00933  Hereditary pancreatitis
Related
pathway
hsa04972  Pancreatic secretion
hsa04974  Protein digestion and absorption
Gene
PRSS1 (gain of function) [HSA:5644] [KO:K01312]
SPINK1 (loss of function) [HSA:6690] [KO:K23417]
CFTR (polymorphism) [HSA:1080] [KO:K05031]
PRSS2 [HSA:5645] [KO:K01312]
CTRC (polymorphism) [HSA:11330] [KO:K01311]
Other DBs
ICD-11: DC32.2
ICD-10: K86.1
MeSH: D010195
OMIM: 167800
Reference
  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
Reference
  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
Reference
  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
Reference
  Authors
Grigorescu M, Grigorescu MD
  Title
Genetic factors in pancreatitis.
  Journal
Rom J Gastroenterol 14:53-61 (2005)
Reference
  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
Reference
  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

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