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Hereditary Equine Regional Dermal Asthenia (HERDA), also known as Hyperelastosis Cutis (HC) is a tissue disorder in the American Quarter Horse that causes loose, fragile skin. The disorder is caused by a recessive mutation to the gene PPIB.
While the disorder occurs primarily in the American Quarter Horse, it has also been observed in Arabian and American Paint horses with Quarter Horse ancestry.
Epidermolysis bullosa (EB) consist of a group of heterogeneous heritable disorders, among which Junctional epidermolysis bullosa (JEB), characterised by blisters formed at sites of minor friction or trauma.
La trombostenia nota anche come trombostenia di Glanzmann (GT) è una rara malattia emorragica caratterizzata da piastrine difettose. Normalmente, le piastrine si attaccano insieme per fermare il flusso di sangue durante le lesioni fino a quando non si verifica la coagulazione e la riparazione dei tessuti. I cani con GT hanno una conta piastrinica normale ma hanno un’aggregazione piastrinica e coagulazione del sangue anormale che può causare sanguinamento potenzialmente letale.
Cardiomyopathy with juvenile mortality is a severe heart disorder in the Belgian Shepherd, causing the sudden death of affected puppies. It is caused by a recessive mutation to the gene YARS2.
Polysaccharide Storage Myopathy 1 (PSSM1 or PSSM Type 1) is a muscle disorder characterized by the abnormal buildup of glycogen (complex sugars) in skeletal muscle cells. This excess glycogen leads to the breakdown of muscle fibers, resulting in a range of symptoms, from muscle atrophy and progressive weakness to muscle soreness and gait abnormalities. PSSM Type 1 is caused by an incomplete autosomal dominant mutation in the glycogen synthase 1 (GYS1) gene.
Il colore del mantello roano è un disegno bianco con una miscela di peli bianchi e colorati sul corpo mentre la testa, la parte inferiore delle zampe, la criniera e la coda rimangono colorate. Nei cavalli che ereditano il classico gene Roano, i peli bianchi e colorati sono mescolati uniformemente rispetto ai cavalli che hanno una distribuzione irregolare dei peli bianchi chiamata modello Roaning. Per questo modello roaning, l’ereditarietà non è stata definita.
In letteratura si suggerisce che il colore del mantello Roano sia omozigote letale, ma le prove degli studi con la razza Quarter horse indicano il contrario. Nella popolazione esistono cavalli Roano Quarter che producono puledri roani al 100%.
Shaking Puppy Syndrome (SPS) is a form of hypomyelination, a severe neurological disorder, found in the English Springer Spaniel. The disease causes involuntary tremors and results in early death. It is caused by an X-linked recessive mutation to the gene PLP1.
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The Dominant White coat colour pattern in horses can be caused by any in a wide array of related mutations. The resulting pattern can vary anywhere between white markings on the face and legs, up to a completely white coat. Depending on both breed and pattern, variants of the Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.
The specific variant analysed in this test, known as Splashed White 2 (SW2), is caused by an incomplete dominant mutation to the paired box 3 (PAX3) gene. It is found in the Lipizzaner horse, Noriker and Quarter Horse breeds and is recently renamed into Auditory-pigmentary syndrome.
Neuroaxonal dystrophy (NAD) in dogs is an inherited condition that affects the nervous system. In the condition, there is swelling of cells in the brain which affect the communication with nerve cells. NAD can be present at birth or develop later in a dog’s life, leading to neurological dysfunction and loss of coordination.
There are multiple variants of mutations known in different breeds. This lethal variant of the disease, also known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.
Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome. It is caused by a mutation in the androgen receptor (AR) gene, which prevents androgens (male hormones) from working properly during embryo development. Therefore, the normal development of male traits in horses with male chromosomes (46XY) is disrupted. Depending on how sensitive the androgen receptors are to the hormone, the horse’s appearance can vary from female-like genitalia to male-like genitalia, but with issues with infertility.
This variant occurs in American Quarter Horses.
La sindrome di Ehlers-Danlos (EDS) è un gruppo di disturbi del tessuto connettivo, che causano pelle flaccida e ipermobilità articolare. La variante analizzata in questo test, la sindrome di Ehlers-Danlos di tipo VII (Tipo 7, nota anche come dermatosparassi) si trova nel Dobermann pinscher ed è causata da una mutazione recessiva del gene ADAMTS2. Varianti simili di Dermatosparassi colpiscono anche l’Alapaha Blue Blood Bulldog, il Pit Bull Terrier e il Catahoula Leopard Dog.
Warmblood Fragile Foal Syndrome (WFFS) type I, also known as Foal Fragile Syndrome (FFS) type I, is a fatal genetic disorder that affects connective tissue. The condition causes hyperextensible, exceptionally thin, and fragile skin along with delicate mucous membranes, making them highly prone to developing open lesions. It is caused by an autosomal recessive mutation in the PLOD1 gene, which encodes an enzyme essential for collagen production. The FFS mutation primarily occurs in warmblood breeds and is present at a low frequency in thoroughbreds.
L’ipotiroidismo congenito con gozzo (CHG), a volte chiamato semplicemente ipotiroidismo, è un deficit della ghiandola tiroidea, che può causare ritardo della crescita e letargia. Questa variante della malattia, che si trova nello Spanish Water Dog, è causata da una mutazione recessiva del gene TPO. Varianti simili si verificano nel Rat Terrier e nel Toy Fox Terrier, nel Tenterfield Terrier e nel Bulldog francese.
La glucosio-6-fosfatasi (G-6-Pase) catalizza le fasi terminali sia della gluconeogenesi che della glicogenolisi. L’enzima è attivo in alti livelli nel fegato, nei reni, nell’intestino e nel pancreas. Il deficit dell’enzima G-6-Pase causa la malattia da accumulo di glicogeno di tipo Ia (GSD-Ia/GSD1a) (malattia di von Gierke), una malattia autosomica recessiva.
Charcoal coat is a rare colouration pattern unique to the Bengal cat, resulting in a darker coat colour and so-called “Zorro markings” on the face and back. Believed to derive from the Asian Leopard Cat (Prionailurus bengalensis), which was hybridized with the common domestic cat to create the Bengal breed. The Charcoal genotype consists of several mutations to the gene ASIP.
The trait inherits in a semi-dominant manner: only a cat with one copy of the Charcoal allele and one copy of the non-Agouti allele will display a Charcoal coat.
Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome. It is caused by a mutation in the androgen receptor (AR) gene, which prevents androgens (male hormones) from working properly during embryo development. Therefore, the normal development of male traits in horses with male chromosomes (46XY) is disrupted. Depending on how sensitive the androgen receptors are to the hormone, the horse’s appearance can vary from female-like genitalia to male-like genitalia, but with issues with infertility.
This variant occurs in Warmblood horses.
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination. This variant of the disease, known as Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration (NCCD) or simply Spinocerebellar Ataxia, is found in the Beagle. It is caused by a recessive mutation to the gene SPTBN2. Other variants of the disease have been reported in the Rhodesian Ridgeback, Samoyed, Irish Setter and Coton De Tulear.
Cerebellar Ataxia (CA) is a rare disorder characterised by progressive cerebellar neurodegeneration. CA is characterised by degeneration of the cerebellar structures, which results in progressive motor incoordination. This variant of the disorder, found in the Finnish Hound, is also known as Finnish Hound Ataxia (FHA). It is caused by a recessive mutation to the gene SEL1L.
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and may ultimately be cause for euthanasia on humane grounds. This variant, known as Neonatal Cerebellar Ataxia (NCA) and sometimes as as Bandera’s Neonatal Ataxia (BNAt), is an autosomal recessive disease found in Coton de Tulear and Havanese dogs. It is caused by a mutation to the gene GRM1.
