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NON RARE IN EUROPE: Recurrent acute pancreatitis

Disease Export to PDF
Name:
NON RARE IN EUROPE: Recurrent acute pancreatitis
Description:
A disorder that is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.
ORPHAcode:
64740
XREF(s):
Orphanet
Analyte(s):
CTRC
SPINK1
PRSS1
Created:
04 Feb 2020 - 15:13
Changed:
22 Jun 2023 - 16:14
  • Pancreatitis (7 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 Duplications/deletions by MLPA
    SPINK1 100.00 0
    PRSS1 100.00 0 Only exons 2, 3, 4, 5 are amplified and analyzed by sequencing.
    CTRC 100.00 0
    CASR 100.00 0
    CLDN2 100.00 0
    CPA1 100.00 0
  • Pancreatitis idiopathic (3 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SPINK1
    CTRC
    PRSS1