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Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia is often required for affected dogs. This variant of the disorder, known as Junctional Epidermolysis Bullosa (JEB), is found in the Australian Shepherd. It is caused by a recessive mutation to the gene LAMB3.
La sindrome di Scott canina (CSS), chiamata anche deficit del recettore del fattore piastrinico X o diatesi emorragica, è causata da un difetto nella funzione piastrinica. Le piastrine, chiamate anche trombociti, svolgono un ruolo importante nella coagulazione del sangue. La malattia è causata da una mutazione recessiva del gene ANO6.
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. This variant of the disease, LAMA3-related Junctional Epidermolysis Bullosa, is caused by a recessive mutation to the gene LAMA3. It has been observed in the Australian Cattle Dog (this test) and in the German Pointer.
Anhidrotic Ectodermal Dysplasia (XHED) is a skin and tissue disorder that results in lack of hair and underdeveloped teeth, and can leave affected dogs vulnerable to parasites and infections. It is caused by an X-linked recessive mutation to the gene EDA. The variant of the disease in this test is found in the German Shepherd. Other variants have been observed in the Dachshund and certain mixed breeds.
Leukoencephalomyeolopathy (LEMP) is a neurological disease that affects the central nervous system, affecting coordination and gait. The variant of the disease in this test occurs in the Great Dane and Rottweiler, and is caused by a recessive mutation to the gene LEMP. Another variant has been observed in the Leonberger.
Oculocutaneous Albinism is a disorder caused by a lack of pigment in the skin, hair and eyes, resulting in a white coat colour and pale eyes, and which can also cause sensitivity to light. This particular variant of the disease, Oculocutaneous Albinism, is caused by a recessive mutation to the gene SLC45A2. It is found in the Lhasa Apso, Pekingese and German Spitz (Pomeranian) breeds, as well as in certain mixed-breed dogs. Similar variants of Type IV albinism are found in the Doberman and the Bullmastiff.
Dilute Coat Colour with Neurological Defects is a severe neurological disorder found in the Miniature Dachshund, resulting muscle weakness and lack of coordination as well as pale fur. It is caused by a recessive mutation to the gene MYO5A.
Progressive Retinal Atrophy (rdAc) in cats is caused by an autosomal recessive mutation in a gene called “centrosomal protein of 290 kDa” (CEP290). This gene encodes a protein important for the function of photoreceptor cells in the retina. The mutation leads to progressive retinal degeneration, which ultimately causes vision loss. It is also known as Retinal Degeneration II (RD2) or late-onset photoreceptor degeneration, and is found in many cat breeds.
Primary Open Angle Glaucoma (POAG) is an eye disorder that builds up pressure in the eye and affects the nerves of the retina, damaging vision. This variant of the disease, caused by a recessive mutation to the gene ADAMTS17, occurs in the Basset Fauve de Bretagne. Similar variants also occur in the Basset Hound, Petit Basset Griffon Vendéen, and Chinese Shar-Pei/Shar Pei/Sharpei.
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This early-onset variant of the disease, known as Early Retinal Degeneration (erd-PRA), is found in the Norwegian Elkhound Grey and Black. It is caused by a recessive mutation to the gene STK38L.
Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs. The disorder causes muscle atrophy, anaemia, heart defects, and may result in the death of affected puppies. It is caused by a recessive mutation to the gene EHBP1L1, and is found in the English Springer Spaniel. A closely related variant of the disorder occurs in the Labrador Retriever.
Central nervous system (CNS) atrophy with cerebellar ataxia (CACA) is a neurological condition observed in Belgian Shepherds (or Belgian Malinois). It is caused by a mutation in the SELENOP gene, which lead to a defect in selenium transport.
Affected puppies display uncoordinated movements and intention tremors at two weeks of age and might need to be euthanized on humane grounds.
The disease is is caused by an autosomal recessive deletion in the SEPP1 gene (a.k.a. SELENOP), which is associated with a defect in selenium transport to the CNS.
An inherited polyneuropathy (PN) observed in Leonberger and Saint Bernard dogs has clinical similarities to a group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The disorder is a severe, juvenile-onset, chronic, progressive, and mixed PN, characterised by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea.
This variant of the disorder is caused by a recessive mutation to the gene ARHGEF10.
Haemophilia B, also called Factor IX Deficiency or Christmas Disease, is a blood disorder that impairs clotting, which can lead to uncontrolled bleeding. It is caused by an X-linked recessive mutation to the gene F9. There are many known variants of Haemophilia B, each specific to a particular dog breed. The variant analysed in this test occurs in the Hovawart.
Xanthinuria is a rare metabolic disorder that causes an excess of xanthine in the urine, which lead to the formation of urinary stones and related complications. The variant of Type I Xanthinuria analysed in this test has been observed in a mixed-breed dog. It is caused by a recessive mutation to the gene XDH. Xanthinuria can be managed with a specialized low-purine diet.
La distrofia dei coni e dei bastoncelli (CRD, nota anche come crd-PRA) colpisce le cellule fotorecettrici dell’occhio coinvolte nella visione notturna e diurna. Le cellule della retina coinvolte nella visione in condizioni di scarsa illuminazione, note come bastoncelli, vengono colpite per prime, provocando la cecità notturna. Successivamente, vengono colpiti anche i fotorecettori della luce intensa, noti come coni, che sono importanti per la visione dei colori, con conseguente deficit visivo diurno.
Questa variante di crd, che si trova nel Bassotto, è causata da una mutazione recessiva del gene NPHP4.
Progressive retinal atrophy (PRA) is an autosomal recessive inherited eye disorder leading to degeneration of the photoreceptor cells of the retina. The form of adult-onset PRA in the Basenji is characterised by photoreceptor degeneration causing progressive vision loss, culminating in blindness. It is caused by a recessive mutation to the gene SAG.
Myotonia is a neuromuscular disorder that causes muscle stiffness and difficulty flexing or moving. It is caused by a recessive mutation to the gene CLCN1.
This variant of the disorder is found in the Labrador Retriever. Other variants occur in the Miniature Schnauzer, Border Collie, Australian Cattle Dog and the American Bulldog.
Il deficit di semialdeide deidrogenasi succinica (SSADHD) è un disturbo metabolico che colpisce il sistema nervoso, causando convulsioni e comportamenti alterati. La malattia si trova nel Saluki ed è causata da una mutazione recessiva del gene ALDH5A1.
Elliptocytosis is a mild disorder which causes red blood cells to be formed oval-shaped (elliptocytes) instead of in the typical round “biconcave” shape. While typically harmless by itself, the disorder can leave affected dogs more vulnerable to other cardiovascular disorders. This variant of elliptocytosis, observed in a Labrador/Chow mixed-breed dog, is believed to be caused by a dominant mutation to the SPTB gene.
