Disease overview

Hypophosphatasia is an inherited skeletal disorder caused by a mutation in the ALPL gene, which encodes a member of the alkaline phosphatase family of proteins responsible for proper tissue formation. This disease leads to skeletal abnormalities such as hypomineralization and growth retardation.

Gene name

ALPL

Inheritance

Autosomal recessive

Signs and symptoms

Dogs with this disorder may present with a wide range of clinical signs. Skeletal abnormalities can include growth retardation, deformed joints, hyperextension, or weakness. Dental disease can be presented. Seizures and movement difficulties are possible. The age of onset can vary between 2 to 10 weeks of age, with the possibility of early death.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. An exam can determine if there are skeletal abnormalities. Serum analysis as well as radiographs can help with diagnosis of this condition. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Kyöstilä K, Syrjä P, Lappalainen AK, Arumilli M, Hundi S, Karkamo V, Viitmaa R, Hytönen MK, Lohi H. A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Sci Rep. 2019 Jan 30;9(1):973. doi: 10.1038/s41598-018-37801-2. PMID: 30700765; PMCID: PMC6353930.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.