Dermatomyositis
Breed: Border Collie
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
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 for these breeds
General
Disease Name
Dermatomyositis
OMIA
270
Gene Name
PAN2
Gene Name 2
MAP3K7CL
Mutation
p.Arg492Cys
Mutation 2
c.383_392ACTCCACAAA>GACT, DLA-DRB1*002:01
Test Type
Genetic Disease/Disorder
Details
Dermatomyositis (DMS) is an autoimmune disease of the skin and muscle. Symptoms include skin lesions, hair loss and crusts on the face, ear tips, legs and feet, and the tip of the tail. In some breeds, additional symptoms include muscle wasting, difficulty swallowing, and an unusual gait. Age of onset varies, from as early as 12 weeks to mature dogs.The causes of the disease are multifactorial - a combination of genetic and environmental factors. Tests for this disease determine a number of risk alleles. The combination of the presence of the risk alleles indicate risk only.
Details 2
Dermatomyositis (DMS) is an autoimmune disease of the skin and muscle. Symptoms include skin lesions, hair loss and crusts on the face, ear tips, legs and feet, and the tip of the tail. In some breeds, additional symptoms include muscle wasting, difficulty swallowing, and an unusual gait. Age of onset varies, from as early as 12 weeks to mature dogs.The causes of the disease are multifactorial - a combination of genetic and environmental factors. Tests for this disease determine a number of risk alleles. The combination of the presence of the risk alleles indicate risk only.
Published
Evans JM, Noorai RE, Tsai KL, Starr-Moss AN, Hill CM, Anderson KJ, et al. (2017) Beyond the MHC: A canine model of dermatomyositis shows a complex pattern of genetic risk involving novel loci. PLoS Genet 13(2) e1006604.doi:10.1371/journal.pgen.1006604
Body/System/Process
Autoimmune
Inheritance
Multifactorial
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PAN2, MAP3K7CL, DLA-DRB1
Mutation
p.Arg492Cys, c.383_392ACTCCACAAA>GACT, DLA-DRB1*002:01
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PAN2, MAP3K7CL, DLA-DRB1
Mutation
p.Arg492Cys, c.383_392ACTCCACAAA>GACT, DLA-DRB1*002:01
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Key Comment