cavalier/info-lgs@agrotis.it - Página 16 de 23

Canine Multiple System Degeneration (CMSD) – Chinese Crested

Canine Multiple System Degeneration (CMSD) is a progressive neurological disease characterized by degeneration in multiple areas of the central nervous system, particularly the cerebellum, brainstem, and spinal cord. It also affect the caudate nucleus and substantia nigra, which are crucial for motor control. CMSD is caused by an autosomal recessive mutation in the Serine Active Site Containing 1 (SERAC1) gene. Mutations in this gene disrupt mitochondrial function and lipid metabolism, leading to neuronal degeneration and dysfunction. The variant tested here is found in Chinese Crested dogs.

HNPK (Lab. externo)

Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds. It is caused by a genetic defect that disrupts normal keratinization of the nasal skin, leading to an abnormal accumulation of keratin on the nose. The disorder is caused by a mutation in the SUV39H2 gene and is inherited in an autosomal recessive manner.

Amelogenesis Imperfecta (AI) – (American) Akita

Amelogenesis Imperfecta (AI), also known as Familial Enamel Hypoplasia (FEH), represents a heterogeneous group of hereditary disorders affecting tooth enamel. The condition uniformly affects deciduous and permanent teeth and is manifested by enamel roughening/thinning and brownish mottling.

This variant of the disorder, also known as Amelogenesis Imperfecta 3, is found in the Akita Inu. It is caused by a recessive mutation to the gene ACPT (also known as ACP4).

Retinopathy with Vitamin E Deficiency

Retinopathy with isolated vitamin E deficiency (RVED), also known as ataxia with isolated vitamin E deficiency (AVED), is a hereditary neurological disease originally found in English Cocker Spaniels. It is caused by an autosomal recessive mutation in the alpha-tocopherol transfer protein gene (TTPA). This gene encodes a protein that plays a critical role in the transport of vitamin E throughout the body, including the retina. The mutation leads to a loss of protein function, resulting in vitamin E deficiency. This deficiency can cause vision impairment such as retinal degeneration and, in some cases, neurological dysfunction.

Copper Toxicosis (Accumulating Variant, COMMD1 – related) – Bedlington Terrier

Copper Toxicosis, otherwise known as Wilson Disease, is a complex genetic disease that occurs in several different dog breeds. A dog that retains too much copper from its diet suffers from copper toxicosis, which causes liver damage and associated negative effects.

In the Bedlington Terrier, a recessive mutation to the gene COMMD1 (also known as MURR1) is known to cause elevated copper levels, resulting in copper toxicosis.

Anomalía ocular de Collie CEA, CH

Collie Eye Anomaly (CEA), also known as choroidal hypoplasia, is a congenital developmental disorder affecting the development of the choroid, a vascular layer of the eye beneath the retina. It is primarily found in Collie-related dogs such as the Collie, Border Collie, Australian Shepherd and Shetland Sheepdog. CEA is caused by a recessive mutation in the NHEJ1 gene and can lead to structural abnormalities in the eye that may impair vision or result in blindness.

Membranitis leñosa (LM) – Scottish Terrier

Ligneous Membranitis (LM) is a rare, hereditary chronic disease that affects delicate (mucous) membranes of the nostrils, mouth, throat and eyelids. This leads to thickening and scarring of the tissues. It can also affect the inner membranes of the heart and brain, potentially causing permanent heart and brain damage. LM is caused by an autosomal recessive mutation in the plasminogen (PLG) gene, which is important for dissolving blood clots. The mutation is found in the Scottish Terrier.

Manage List

[wc_wishlists_edit]

Progressive Retinal Atrophy (D-PRA, Dominant PRA) – Mastiff

Progressive Retinal Atrophy (D-PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This variant of PRA, known as Autosomal Dominant Progressive Retinal Atrophy (ADPRA), is found in the Bullmastiff and English Mastiff. It is caused by a dominant mutation to the rhodopsine (RHO) gene.

Miopatía centronuclear (CNM) – Labrador Retriever

Centronuclear Myopathy (CNM), also known as Type II Fiber Deficiency, Hereditary Myopathy of Labrador Retrievers (HMLR), or Autosomal Recessive Muscular Dystrophy, is a hereditary neuromuscular disorder that primarily affects Labrador Retrievers. It is caused by a recessive mutation in the HACD1 gene (also known as PTPLA), which disrupts normal muscle fiber formation. The condition is characterized by muscle weakness and wasting and usually becomes apparent during puppyhood.

Encefalopatía neonatal (NEWS)

Neonatal Encephalopathy with Seizures (NEWS) is a hereditary brain disorder that primarily affects the cerebellum. It is an autosomal recessive condition caused by a mutation in the activating transcription factor 2 (ATF2) gene. NEWS is known to be widespread in the Standard Poodle breed if not controlled through genetic selection.

Muscular Dystrophy (MD) – American Staffordshire Terrier

Muscular Dystrophy (MD) is a muscle disorder in the American Staffordshire Terrier. It is also known as Ullrich-Type congenital muscular dystrophy and primarily causes diffuse muscle atrophy and multifocal joint contractures with limited flexibility. The disorder is caused by an autosomal recessive mutation in the Collagen Type VI Alpha 3 Chain (COL6A3) gene.

Other Ullrich-Type variants of muscular dystrophy are available for the Labrador Retriever.

Disproportionate Dwarfism – Dalmatian

Disproportionate Dwarfism is a skeletal disorder affecting limb development in Dalmatian dogs. The condition results in shortened limbs relative to the body, while the torso and head remain normally proportioned. It is caused by a mutation in the PRKG2 gene and follows an autosomal recessive inheritance pattern. The disorder has been observed in the Dalmatian breed.

Enanismo pituitario – Tipo Pastor

Pituitary Dwarfism is a condition characterized by a combined deficiency of growth hormone (GH), thyroid-stimulating hormone (TSH), prolactin, and gonadotropins. It is caused by an autosomal recessive mutation in the LIM homeobox 3 (LHX3) gene. Due to this mutation, the pituitary glands of affected dogs fail to develop normally, leading to a deficiency of multiple hormones essential for growth and development. This condition has been observed in German Shepherd Dogs, Czechoslovakian Wolfdogs, White Swiss Shepherds, and Saarloos Wolfdogs.

Leucodistrofia de células globoides (GCL, enfermedad de Krabbes) – Setter irlandés

Globoid Cell Leukodystrophy (GLD) also known as Krabbe’s Disease is a severe neurological disorder in dogs. It is caused by an autosomal recessive mutation in the galactosylceramidase (GALC) gene that leads to a deficiency of the enzyme galactocerebrosidase. This enzyme is active in the lysosomes (part of an animal’s cell) and is crucial for digesting and removing of waste in the cells. Due to the mutation, toxic substances accumulate, causing damage to the nervous system, particularly the brain and spinal cord. The mutation is found in the Irish Setter.
Additionally, a closely related variant has been observed in the Cairn Terrier and West Highland White Terrier.

Mielopatía necrotizante hereditaria (HNM)

Hereditary Necrotising Myelopathy (HNM), also known as ENM, is a hereditary neurological disorder that affects the spinal cord. It leads to degeneration of the white matter, resulting in loss of coordination and mobility. The disorder is caused by a mutation in the IBA57 gene and is inherited in an autosomal recessive manner. HNM has, so far, been observed only in the Kooikerhondje breed.

Fiebre Shar-Pei (SPAID)

Familial Shar-Pei Fever, also called Shar-Pei Autoinflammatory Disease (SPAID) is a hereditary autoimmune condition characterised by recurrent fever attacks and arthritis (swollen and painful heels). Therefore it is also called “Swollen Hock Syndrome”. A causal mutation responsible for the disease was identified in the MDM2 Binding Protein (MTBP) gene.

Deficiencia de piruvato quinasa (PKDef) – West Highland White Terrier

Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development. It is caused by a recessive mutation to the PKLR gene. The variant analysed in this test is found in the West Highland White Terrier and Cairn Terrier. Related variants are also found in the Basenji, Labrador Retriever, Pug and Beagle.

Early Onset Progressive Polyneuropathy (EOPP)

Polyneuropathy is a neurological disorder characterized by damage to the peripheral nerves. The variant of the disease analysed in this test is found in the Greyhound, and is known as Early Onset Progressive Polyneuropathy (EOPP) or
Greyhound Polyneuropathy (GHPN). It is caused by an autosomal recessive mutation to the gene NDRG1. A related variant, Alaskan Malamute Polyneuropathie (AMPN), is also offered as a seperate test.

Gangliosidosis (GM2 Tipo II) – Birmano

There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease. This mutation of gangliosidosis (GM2 Type II) has been found in the β-subunit gene (HEXB), causing a deficiency of β-N-acetylhexosaminidase activity. GM2 is an autosomal recessive disorder.

This variant is for the Burmese cat breed.

Search: cavalier/info-lgs@agrotis.it – Page 16

Need a new search?