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Periodic Fever Syndrome

Breeds

Relevance Rating: There is some evidence or research available in this breed

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed

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General

Disease Name
Periodic Fever Syndrome
Gene Name 2
sHAS2
Mutation
c.2623G>A
Mutation 2
g.19383758G>A
Test Type
Genetic Disease/Disorder
Details
Familial Shar-Pei Fever (FSF) causes dogs to be in a constant state of inflammation. Symptoms include fever - which can reach over 106F and require emergency treatment, pain, joint swelling, enlarged and swollen muzzle, swollen lips, vomiting, diarrhea. Age of onset starting from 18 months, but can occur in adulthood. May lead to Amyloidosis increaseing the risk of kidney failure.
Details 2
Autoinflammatory diseases in dogs are characterized by complex disease processes with varying clinical signs. In Shar-Pei, signs of inflammation including fever and arthritis are known to be related with a breed-specific predisposition for Shar-Pei Autoinflammatory Disease (SPAID)...Clinical and histopathological examinations of two severely SPAID-affected Shar-Pei revealed signs of inflammation including fever, arthritis, and perivascular and diffuse dermatitis in both dogs. A multifocal accumulation of amyloid in different organs was found in one SPAID-affected case... Shar-Pei with a heterozygous genotype (G/A) were shown to have a 2.13-fold higher risk for disease development, which gave evidence for an incomplete dominant mode of inheritance. (From Metzger et al, 2017)
Published
Olsson, M., Meadows, J.R., Truvé, K., Rosengren Pielberg, G., Puppo, F., Mauceli, E., Quilez, J., Tonomura, N., Zanna, G., Docampo, M.J., Bassols, A., Avery, A.C., Karlsson, E.K., Thomas, A., Kastner, D.L., Bongcam-Rudloff, E., Webster, M.T., Sanchez, A., Hedhammar, A., Remmers, E.F., Andersson, L., Ferrer, L., Tintle, L., Lindblad-Toh, K. : A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. PLoS Genet 7:e1001332, 2011. Pubmed reference: 21437276. DOI: 10.1371/journal.pgen.1001332.
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