Ectodermal Dysplasia / Skin Fragility Syndrome – Chesapeake Bay Retriever Type
Kodas: H375
Short description
Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.
General information
Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia on humane grounds is typically necessary for affected dogs.
This variant (ED-SFS), found in the Golden Retriever and Chesapeake Bay Retriever, is caused by a recessive mutation to the gene PKP1. The closely-related disorder Dystrophic Epidermolysis Bullosa is also found in the Golden Retriever.
Specifications
| Breeds | |
|---|---|
| Gene | PKP1 |
| Chromosome | 7 |
| Mutation | c.202+1G>C |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | ED-SFS |
Clinical features
Symptoms of Ectodermal Dysplasia in affected puppies occur immediately after birth, with nose and footpads spontaneously sloughing (rubbing or sliding off). Exposed skin such as ear tips or skin will bleed or slough if licked by the mother or otherwise rubbed. Affected puppies also have finer, thinner fur.
References
Pubmed ID: 22384142
Year published: 2012
Omia ID: 1864
Omia variant ID:
Turnaround information
- 10 working days