Hereditary pancreatitis;
Hereditary chronic pancreatitis

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.

Pancreas disease

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]

PMID:21907651 (description, gene)

Rebours V, Levy P, Ruszniewski P

An overview of hereditary pancreatitis.

Dig Liver Dis 44:8-15 (2012)

PMID:17204147 (description, gene)

Rosendahl J, Bodeker H, Mossner J, Teich N

Hereditary chronic pancreatitis.

Orphanet J Rare Dis 2:1 (2007)

PMID:17238030 (description, gene)

Naruse S, Fujiki K, Ishiguro H

Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?

J Gastroenterol 42 Suppl 17:60-5 (2007)

PMID:15800694 (gene)

Grigorescu M, Grigorescu MD

Genetic factors in pancreatitis.

Rom J Gastroenterol 14:53-61 (2005)

PMID:16699518 (gene)

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

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.

Nat Genet 38:668-73 (2006)

PMID:18172691 (gene)

Masson E, Chen JM, Scotet V, Le Marechal C, Ferec C

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

Hum Genet 123:83-91 (2008)