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H782

Ichthyosis is a disease of the skin, causing itch, hair loss and the formation of dry, flaky “scales”.

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Caractéristiques

Breeds

Gene

Organ

specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Ichthyosis is a disease of the skin, causing itch, hair loss and the formation of dry, flaky “scales”. It can also leave the skin vulnerable to yeast infection. This variant of the disease, referred to as Golden Retriever Ichthyosis Type 2 (ICH2), occurs in the Golden Retriever and is caused by a recessive mutation to the gene ABHD5.

Ichthyosis can in the Golden Retriever can also be caused by another genetic mutation, Golden Retriever Ichthyosis Type 1 (ICH1).

Caractéristiques cliniques

Affected dogs present with white or grey scale formation over the skin, particularly visible on the underbelly and on the inside of the ears. The scales can vary between powdery and sticking to the skin. The skin of the underbelly typically has an unusually dark pigmentation.

Additional Information

This is one of two mutant genes known to cause Golden Retriever ichthyosis.

Références

Pubmed ID: 34791225

Omia ID: 2368

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