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Familial Shar-Pei Fever, also called Shar-Pei Autoinflammatory Disease (SPAID) is a hereditary autoimmune condition characterised by recurrent fever attacks and arthritis (swollen and painful heels).
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 13 |
| Mutation | c.2623G>A |
| Mode of Inheritance | multifactorial |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | FSF; AID; SPAID |
Información específica de la prueba
Familial Shar-Pei Fever, also called Shar-Pei Autoinflammatory Disease (SPAID) is a hereditary autoimmune condition characterised by recurrent fever attacks and arthritis (swollen and painful heels). Therefore it is also called “Swollen Hock Syndrome”. A causal mutation responsible for the disease was identified in the MDM2 Binding Protein (MTBP) gene.
Características clínicas
Clinical signs of SPAID are fever, pain in the hind legs, excessive drinking and excessive urination. Shar-Pei/Shar Pei/Sharpei Fever can be treated by a veterinarian through painkillers and medication to support kidney functions and reduce fever.
Información adicional
The consensus about the inheritence pattern of the variant tested here is currently multifactorial with an incomplete genetic component. This means that researchers show that the phenotype cannot be explained by a dominant mode of inheritance only. More research needs to be performed in order to fully explain this phenotype.
Referencias
Pubmed ID: 28472921
Year published: 2017
Omia ID: 1561
Omia variant ID: 112