Mucopolysaccharidosis VI (MPS6) – Great Dane
Kodas: H981
Short description
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
General information
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This variant of the disease, known as Mucopolysaccharidosis Type VI (MPS VI), is caused by a recessive mutation to the gene ARSB, and is found in the Great Dane. Related variants also occur in the Miniature Poodle, Miniature Schnauzer and Miniature Pinscher.
Specifications
| Breeds | |
|---|---|
| Gene | ARSB |
| Chromosome | 3 |
| Mutation | c.295C>T |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS VI |
Clinical features
Affected dogs present stunted growth around 4 months of age, splayed limbs, crooked/bowing leg bones, progressive muscle weakness and noisy breathing. The disease is progressive, and euthanasia may be necessary due to poor quality of life.
References
Pubmed ID: 29157190
Year published: 2018
Omia ID: 666
Omia variant ID:
Turnaround information
- 10 working days