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Periodic Fever Syndrome

Breed: ALL

Generic Phene Data

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
ALL
GTPs
Wisdom Panel - Kinship

General

Disease Name
Periodic Fever Syndrome
OMIA
1561
Gene Name
MTBP
Gene Name 2
sHAS2
Mutation
c.2623G>A
Mutation 2
g.19383758G>A
Mutation 3
p.E875K
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.
Published 2
Docampo, M.J., Zanna, G., Fondevila, D., Cabrera, J., López-Iglesias, C., Carvalho, A., Cerrato, S., Ferrer, L., Bassols, A. : Increased HAS2-driven hyaluronic acid synthesis in shar-pei dogs with hereditary cutaneous hyaluronosis (mucinosis). Vet Dermatol 22:535-45, 2011. Pubmed reference: 21718367. DOI: 10.1111/j.1365-3164.2011.00986.x.
Published 3
Metzger, J., Nolte, A., Uhde, A.K., Hewicker-Trautwein, M., Distl, O. : Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics 18:348, 2017. Pubmed reference: 28472921. DOI: 10.1186/s12864-017-3737-z.
Body/System/Process
Autoimmune
Inheritance
ARID

Breed Specific Info

Researched Breeds
Shar-Pei

HSP Test-Specific Data

Wisdom Panel - Kinship

GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
unpublished
Mutation
unpublished
Nature of test
mutation test
Inheritance
AR
GTP Patents/ Licences/ Discovery
Wisdom Panel 4.0 and Wisdom Panel Health are specific to Wisdom Health
FCI Number
-20
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