KEGG DISEASE: Hereditary pancreatitis

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

Digestive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
  Diseases of pancreas
   DC32  Chronic pancreatitis
    H00933  Hereditary pancreatitis

Pathway

hsa04972

Pancreatic secretion

hsa04974

Protein digestion and absorption

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]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

Reference

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

Reference

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

Reference

PMID:15800694

Authors

Grigorescu M, Grigorescu MD

Title

Genetic factors in pancreatitis.

Journal

Rom J Gastroenterol 14:53-61 (2005)

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (9)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (5)   
Literature (9)   
   PubMed (9)   
All databases (19)   

Download RDF

DBGET integrated database retrieval system