Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hereditary pancreatic disease

Hereditary pancreatitis is an autosomal recessive or dominant disorder cased by mutations of the PRSS1 and SPINK1 genes.

Systematic

Hereditary diseases
Disposition to infections
Genetic alterations of drug tolerance
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2
NEK8
PRSS1
SPINK1
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

Lowenfels AB et al. (1997) Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group.

external link
2.

Mann TP et al. (1969) Familial pancreatic exocrine dysfunction with pancreatic calcification.

external link
3.

Sarles H et al. (1982) Giant pancreatic stones in teetotal women due to absence of the "stone protein"?

external link
4.

Girard RM et al. (1980) Hereditary chronic pancreatitis.

external link
5.

Rümenapf G et al. (1994) Surgical management of hereditary pancreatitis: report of a case and presentation of a new family.

external link
6.

Lewis MP et al. (1993) Hereditary calcific pancreatitis in an English family.

external link
7.

Sarles H et al. (1996) Two forms of hereditary chronic pancreatitis.

external link
8.

None (1996) It takes a family.

external link
9.

Le Bodic L et al. (1996) The hereditary pancreatitis gene maps to long arm of chromosome 7.

external link
10.

Pandya A et al. (1996) Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q.

external link
11.

Whitcomb DC et al. (1996) A gene for hereditary pancreatitis maps to chromosome 7q35.

external link
12.

Witt H et al. (2000) Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

external link
13.

Dasouki MJ et al. (1998) Heterogeneity in hereditary pancreatitis.

external link
14.

Sharer N et al. (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

external link
15.

Cohn JA et al. (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

external link
16.

GROSS JB et al. (1962) Hereditary pancreatitis. Description of a fifth kindred and summary of clinical features.

external link
17.

GROSS JB et al. (1964) URINARY EXCRETION OF AMINO ACIDS IN A KINDRED WITH HEREDITARY PANCREATITIS AND AMINOACIDURIA.

external link
18.

COMFORT MW et al. (1952) Pedigree of a family with hereditary chronic relapsing pancreatitis.

external link
19.

Tzetis M et al. (2007) Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.

external link
20.

Chang MC et al. (2007) Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.

external link
21.

Rosendahl J et al. (2008) Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

external link
22.

Masson E et al. (2008) Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

external link
23.

Davidson P et al. (1968) Hereditary pancreatitis. A kindred without gross aminoaciduria.

external link
24.

Chen JM et al. (2000) Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

external link
25.

Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

external link
26.

Király O et al. (2007) Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

external link
27.

None (1967) Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general?

external link
28.

Rowen L et al. (1996) The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.

external link
29.

Whitcomb DC et al. (1996) Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

external link
30.

Gorry MC et al. (1997) Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

external link
31.

Férec C et al. (1999) Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

external link
32.

None (1978) Hereditary pancreatitis in England and Wales.

external link
33.

Schlesinger DH et al. (1977) Complete covalent structure of statherin, a tyrosine-rich acidic peptide which inhibits calcium phosphate precipitation from human parotid saliva.

external link
34.

Freeman HJ et al. (1976) Alpha1-antitrypsin deficiency and pancreatic fibrosis.

external link
35.

Riccardi VM et al. (1975) Hereditary pancreatitis. Nonspecificity of aminoaciduria and diagnosis of occult disease.

external link
36.

Freud E et al. (1992) Familial chronic recurrent pancreatitis in identical twins. Case report and review of the literature.

external link
37.

Steer ML et al. (1987) The cell biology of experimental pancreatitis.

external link
38.

Dalton-Clarke HJ et al. (1985) Familial chronic calcific pancreatitis: a family study.

external link
39.

Kattwinkel J et al. (1973) Hereditary pancreatitis: three new kindreds and a critical review of the literature.

external link
40.

None (1973) Hereditary pancreatitis in a Newcastle family.

external link
41.

None (1974) Hereditary pancreatitis. Review and presentation of an additional kindred.

external link
42.

Sato T et al. (1974) Familial chronic pancreatitis associated with pancreatic lithiasis.

external link
43.

McElroy R et al. (1972) Hereditary pancreatitis in a kinship associated with portal vein thrombosis.

external link
44.

Carey MC et al. (1968) Hyperparathyroidism associated with chronic pancreatitis in a family.

external link
45.

OMIM.ORG article

Omim 167800 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits