A number sign (#) is used with this entry because of evidence that chronic pancreatitis (https://omim.org/entry/167800) can be caused by mutation in the cationic trypsinogen gene PRSS1 (276000) and the SPINK1 gene (167790). Furthermore, idiopathic pancreatitis has been found to be associated with mutations in the cystic fibrosis gene (CFTR; 602421). A missense variant in the PRSS2 gene (601564.0001) confers protection against chronic pancreatitis. Variants in the chymotrypsin C gene (601405) that diminish activity or secretion are associated with chronic pancreatitis.
Súvisiace produkty
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ADNFLE (AUT. DOM. NOCTURNAL FRONTAL LOBE EPILEPSY)
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DEFICIENCIA A1AT
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CADASIL 1 SYNDRÓM
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NEUROFIBROMATÓZA TYP 1/2