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GENATLAS PHENOTYPE
last update : 26-08-2009
Symbol HPG
Location 7q34
Name hereditary pancreatitis
Corresponding gene PRSS1
Other symbol(s) PCRH, PCTT
Main clinical features
  • severe abdominal pains, fever, and marked elevation of serum amylase, mimicking familial Mediterranean fever, elevated risk of acute pancreatitis and pancreatic carcinoma
  • in a french cohort: pancreatic pain (83%), acute pancreatitis (69%), pseudocysts (23%), cholestasis (3%), pancreatic calcifications (61%), exocrine pancreatic insufficiency (34%, median age of occurrence: 29 years), diabetes mellitus (26%, median age of occurrence: 38 years) and pancreatic adenocarcinoma (5%, median age: 55 years).
    • Genetic determination autosomal dominant
    Prevalence the prevalence of HP in France is at least 0.3/100 000.
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Gene product
    Name cationic trypsinogen (PRSS1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     most frequent mutations R122H (78p100), N29I(12p100) likely arose as a gene conversion event, in which the functional anionic trypsinogen gene acted as the donor sequence
    amplification   abnormal protein/gain of function triplication of a approximately 605-kb segment
    Remark(s) PRSS1 gene mutations are found in 2/3 of french HP cases with a 93% penetrance.
    Genotype/Phenotype correlations
  • mutation type is not correlated with clinical/morphological expression. Pancreatic adenocarcinoma is the cause of nearly half of the deaths
  • mutation-induced misfolding and intracellular retention of human cationic trypsinogen causes hereditary pancreatitis in carriers of the p.R116C mutation(Kereszturi 2009)