Dog

Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. 

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Skeletal dysplasia type 3 is an inherited condition described notably in the Vizsla, associated with a variant in the PCYT1A gene. It primarily results in reduced shoulder height in homozygous dogs, with notable individual variability. The skeletal abnormalities mainly affect the limbs, with shortened, thickened, and deformed bones visible on imaging. Despite these structural changes, affected dogs do not consistently show obvious clinical signs in the short term. However, long-term monitoring is recommended to assess potential orthopedic consequences with age.

Muscle hypertrophy in whippets, sometimes called “bully,” is a genetic trait that results in a highly developed musculature, particularly in the neck and limbs.
Affected dogs have a broad chest and generally do not conform to the breed standard, which favors a slim body, long neck, and pointed muzzle.
Whippets carrying a single copy of the mutation show moderate muscular development but are often faster than dogs homozygous for the normal allele, providing a performance advantage.

Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. 

Congenital deafness in Rottweilers is a genetic disorder causing bilateral hearing loss from the first weeks of life. Affected puppies show profound deafness, without other apparent clinical signs.

This condition is associated with a mutation in the LOXHD1 gene, which plays a key role in the function of the cochlear hair cells.

Severe early-onset epilepsy also known as Juvenile Brain DIsease is an extremely serious inherited neurological disorder.
Affected puppies develop normally during the first weeks of life, but around 6 to 12 weeks of age, they rapidly experience severe convulsive seizures that can progress to status epilepticus, often fatal or requiring euthanasia.
Post-mortem examinations reveal that the lesions are concentrated in the brain, with extensive necrosis of the neurons in the grey matter.

Classic-like Ehlers-Danlos syndrome is a rare genetic disorder of connective tissue, linked to abnormalities of the tenascin-XB protein (gene TNXB).

The c.2900G>A (p.Gly967Asp) mutation has been identified in a reported affected dog, in combination with a second mutation in the same gene.

Clinical signs include skin fragility, hyperextensible skin, and poor wound healing.

This mutation is found at low frequency in some breeds, but its pathogenic role remains preliminary and should be interpreted with caution.

Stargardt disease 1 is a genetic retinal disorder observed in the Labrador Retriever. It causes progressive degeneration of photoreceptors, initially affecting the visual streak and later the entire retina. Affected dogs show reduced vision, noticeable in both daylight and low-light conditions, with abnormal pupillary reflexes. The progression is slow, and most dogs retain some vision throughout their lives. Heterozygous carriers may show mild retinal abnormalities without obvious visual impairment.

This test is also recommended for the German Shorthaired Pointer as part of the breeding program of the Flemish government (see the official program).

Pituitary dwarfism in dogs is a hereditary endocrine disorder linked to abnormal development of the pituitary gland, resulting in insufficient production of several essential hormones, including growth hormone. Affected puppies initially show normal growth, followed by a marked slowdown, leading to proportionate dwarfism. This hormonal deficiency is often associated with characteristic skin abnormalities, such as bilateral symmetrical alopecia and persistence of the juvenile coat. Secondary dermatological complications may occur, including skin infections and pigmentation disorders. Associated anatomical abnormalities, particularly at the atlanto-axial junction, may lead to neurological signs.