Back

Ichthyosis (Golden Retriever Type 2)

Ichthyosis (Golden Retriever Type 2) is an inherited skin disorder in dogs, typically appearing before one year of age, causing flaky skin that progresses to thick, scaly patches, often with a grayish hue.

Affected Genes: ABHD5

Inheritance: Autosomal Recessive With Variable Expressivity

Variant(canFam6):
chr23:2624575-2624588: 14 bp deletion TTCTGGTTGAAGTC

Breed: Golden Retriever
Goldendoodle

General Information: Ichthyosis (Golden Retriever Type 2) affects dogs with variable onset and severity, commonly showing up as flaky skin and lackluster hair early on. As the condition advances, the skin thickens, becomes scaly—particularly noticeable on the abdomen—and may vary in intensity throughout the dog’s life. While most affected dogs manage well, they are prone to skin infections due to compromised skin barrier function.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Ichthyosis (Golden Retriever Type 2) targets the ABHD5 gene to identify carriers. This condition follows an autosomal recessive pattern, meaning dogs need two copies of the mutated gene (one from each parent) to exhibit symptoms. Carriers, with one normal and one mutated gene, do not show signs of the disease but can pass on the mutation. Breeding two carriers increases the risk of affected offspring. Therefore, genetic testing is essential before breeding to prevent transmitting this genetic disorder. Clear results (normal genotype) indicate no risk, while carriers should be bred carefully to avoid producing affected pups.

References:
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo, M., Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 44(2):140-147.

Guaguere E, Bensignor E, Küry S, Degorce-Rubiales F, Muller A, Herbin L, Fontaine J, André C. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract. 2009 50(5):227-235.

Guaguere E, Thomas A, Grall, A, Bourrat E, Lagoutte L, Degorce-Rubiales F, Hitte C, Bensignor E, Fontaine J, Pin D, Queney G, Andre C. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations. In Torres SMF, Fran LA, Hargis AM. Ames (eds), Advances in Veterinary Dermatology, 7th ed. John Wiley & Sons Ltd, 2013.

Kiener S, Wiener D, Hopke K, Diesel A, Jagannathan V, Mauldin E, Casal M, Leeb T.  ABHD5 frameshift deletion in Golden Retrievers with ichthyosis, G3 2021 12(2):jkab397