Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary pancreatic disease

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

Systematic

Hereditary diseases
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 susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

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

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2.

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

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3.

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.

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

None (1978) Hereditary pancreatitis in England and Wales.

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

None (1973) Hereditary pancreatitis in a Newcastle family.

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

None (1996) It takes a family.

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31.

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

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32.

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.

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33.

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

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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

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39.

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

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40.

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

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41.

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.

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42.

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.

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43.

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

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44.

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

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45.

OMIM.ORG article

Omim 167800 [^]
Update: April 29, 2019