Pancreatitis, Hereditary
General
Disease Name
Pancreatitis, Hereditary
OMIA
1403
Gene Name
SPINK1
Mutation
a poly T insertion
Mutation Notes
a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26-27ins(T)33-39,15_61dup11)
Test Type
Genetic Disease/Disorder
Details
Symptoms of pancreatitis range from mild to very severe, and may include a painful, distended stomach, lack of appetite, depression, dehydration, vomiting, and diarrhea.
Details 2
Variants of the SPINK1 gene may be associated with the development of pancreatitis in Miniature Schnauzers.
Published
Bishop, MA., Xenoulis, PG., Levinski, MD., Suchodolski, JS., Steiner, JM. : Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers. Am J Vet Res 71:527-33, 2010. Pubmed reference: 20433378. DOI: 10.2460/ajvr.71.5.527.
Body/System/Process
Pancreas
OMIA Url
Inheritance
unknown
Breed Specific Info
Researched Breeds
Miniature Schnauzer