Ichthyosis type 2 – Golden Retriever
Ichthyosis type 2 - Golden Retriever
General description
Ichthyosis is a genetic disease causing dysfunction of the keratin in the skin, which leads to the production of large, differently pigmented skin scales. Dogs which are affected by this dermatosis develop first symptoms soon after birth, which might get less severe over age.
Breeds
Golden Retriever
Order details
| Test number | 8738 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | a few weeks after birth |
| Causality | causally |
| Gene | ABHD5 |
| Mutation | DEL |
| Literature | OMIA:002368-9615 |
Detailed description
Ichthyosis is a genetic disease causing dysfunction of the keratin in the skin, which leads to the production of large, differently pigmented skin scales. Due to the fish-like look of this scales the name was formed from the Greek word for fish: Ichthýs. Additionally, the pigmentation of the skin can be altered. Dogs which are affected by this dermatosis develop first symptoms soon after birth. Unfortunately, there is no treatment for this disease. In some cases, formation of scales decreases in old dogs.\n\nBesides to the already known variant of the PNPLA1 gene, an additional variant of the ABHD5 gene has been found to cause the same typical symtomps of the Ichtyosis disease. The new variant is called Ichthyosis type 2 and has been mainly detected at dogs of the american breeding line so far.
