Please note: Disease penetrance and incidence in breeds can vary according to populations and geographical regions. Some diseases for that breed may not be relevant to the population in that country. For relevance of a particular disease we recommend you consult your breed club or feline health professional. It is recommended that if the disease is considered not relevant to your population then you screen for all potential diseases if importing a cat or semen for breeding purposes.
1red Scale 1 a very low degree of severity, It is a trait and so is tested based on preference, not for usually health concerns.
2redScale 2 has a low degree of severity, as it generally poses no health concerns.
3redScale 3 has a moderate degree of severity, as it is not a fatal disease, thought it can decrease the quality of life.
4redScale 4 has a high degree of severity due to the affects on affected cats, often results in a decreased quality of life and life span.
5redScale 5 has an extreme degree of severity. It can cause significant decrease of quality of life and immediate death.

Feline Diseases
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Polycystic Kidney Disease

PKD

Category: Renal

Mode of Inheritance:
Autosomal Dominant

Severity:
4red

Description:
In Persians, the condition has been shown to be inherited as a single autosomal dominant gene. It is estimated over 37% of Persians have PKD1. Many lines and catteries have been able to greatly reduce this frequency by using ultrasound screening methods and improved breeding practices. PKD mutations have been found in many cat breeds including Persians, Exotics, Himalayans, British Shorthairs, American Shorthairs, Ragdolls, scottish fold, as well as any Persian our cross.
Early onset, bilateral presentation (both kidneys), and multiple cysts are all traits of the heritable form of the disease. The kidney cysts for PKD1 present early, often before 12 months of age. Renal failure, however, usually occurs at a later age. Thus, PKD1 is considered a late onset renal disease. In the fancy cat breeds, PKD1 is inherited as an autosomal dominant condition. This implies that one copy of the gene is required to produce PKD1. Generally, 50% of PKD1 positive cats' offspring will inherit PKD1. A positive cat could potentially be homozygous for PKD1 and all offspring produced would have PKD1. It is suspected that cats that are homozygous for PKD1 are not abundant and the homozygote form could be lethal in utero or severely present at a very early age. Further research is required to prove the effects of the homozygote condition.

Reference:

1. Greco DS (2001) Congenital and inherited renal disease of small animals. Vet Clin North Am Small Anim Pract. 31(2):393-9 2. Lees, G.E. (1996) Congenital renal diseases, Veterinary Clinics of North America - Small Animal Practice 26:1379

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Hypertrophic Cardiomyopathy

HCM

Category: Cardiac

Mode of Inheritance:
Autosomal Dominant

Severity:
4red

Description:
Hypertrophic Cardiomyopathy (HCM) accounts for 27% of heart diseases in cats. Onset of clinical symptoms usually occurs in middle age however, cats as young as one have been described. Cats with severe HCM and heart failure usually only live for a few months.
The inherited form of HCM is autosomal dominant, which means that carrier (ie, those having one copy of the gene) will be affected. Although all cats with the mutation will be affected, the age of clinical onset and severity can vary considerably.
It is important to note that there are many forms and causes of HCM. HCM leads to a thickening of the heart wall, particularly on the left side. This in turn, can lead to heart failure, embolism and death.
Two specific mutations at different sites on the MYBPC3 gene have been found to be associated with HCM in Maine Coon and Ragdoll cats, respectively. The MYBPC3 gene is partly responsible for the heart’s ability to contract. These specific mutations result in the production of faulty proteins, which the heart tries to compensate by producing more. This overproduction can result in thickening or hypertrophy of the heart.

Reference:
  • 1. Meurs K., X. Sanchez, R.M. David, N.E. Bowles, J.A. Towbin, P.J. Reiser, J.A. Kittleson, M.J. Munro, K. Dryburgh, K.A. MacDonald, M.D. Kittleson. A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Human Molecular Genetics (2005) Vol.14, No. 23, doi:10.1093/hmg/ddi386.
  • 2. Meurs, K., M.M. Norgard, M.M. Ederer, K.P. Hendrix, M.D. Kittleson. A substitution mutation in the myosin binding protein C gene in ragdoll hypertrohic cardiomyopathy. Genomics 90 (2007) 261-264 3. Ripoll Vera T, Monserrat Iglesias L, Hermida Prieto M, Ortiz M, Rodriguez Garcia I, Govea Callizo N, Gómez Navarro C, Rosell Andreo J, Gámez Martínez JM, Pons Lladó G, Cremer Luengos D, Torres Marqués J. The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. Int J Cardiol. 2010 Jun 12.
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Mucopolysaccharidosis Type VI and VII

Category:
Metabolic

Mode of Inheritance:
Autosomal Recessive

Severity:
5red

Description:
Mucopolysaccharidosis VI (Mucolipidosis) is a rare genetic disease characterised by dysostosis multiplex, organomegaly, corneal clouding, and heart valve thickening. Mucopolysaccharidosis VI is caused by a deficiency of arylsulfatase B. Deficiency in this enzyme leads to incomplete degradation of the glycosaminoglycan (GAG) dermatan sulfate, and accumulation of breakdown products in cells and tissues. These breakdown products contribute to lysosome damage, cell death, and organ dysfunction.
Mucopolysaccharidosis VII is a rare genetic lysosomal storage disease of cats. Clinical symptoms are often seen in kittens at 12-14 weeks, including gait abnormalities, an enlarged abdomen, facial dysmorphism, plump paws, corneal clouding. Blood tests may show granulation of neutrophils, vacuolated lymphocytes.
In most cases, the clinical course is progressive. All limbs may be affected with hindlegs exhibiting reduced proprioceptivity and reduced tactile reflexes, hyperreflexia (patellar and tibialis cranialis reflexes), and positive crossed extensor reflexes. Grand mal seizures may occur. Euthanized often results at 6 months of age
.

Reference:
1. Schultheiss PC, Gardner SA, Owens JM et al (2000) Mucopolysaccharidosis VII in a cat. Vet Pathol 37 502-505
2. Cowell KR, Jezyk PF, Haskins ME et al (1976) Mucopolysaccharidosis in a cat. J Am Vet Med Assoc
169:334
3. Fyfe JC, et al (1999) Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics
58(2):121-128
4. Gitzelmann, R (1994) Feline mucopolysaccharidosis VII due to alpha-glucuronidase deficiency. Vet Pathol
31:435-443
5. Schultheiss PC, Gardner SA, Owens JM, Wenger DA, Thrall MA. (2000) Mucopolysaccharidosis VII in a cat. Vet Pathol
37(5):502-505

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Progressive Retinal Atrophy

feline PRA

Category:
Ophthalmic

Mode of Inheritance:
Autosomal Recessive

Severity:
3red

Description:
Progressive Retinal Atrophy (PRA) is an inherited, late-onset blindness found in Abyssinian, Somali and Ocicat breeds.
It is typically characterised by a progressive degeneration of photoreceptors in the eye. A mutation in a gene called CEP290 has been found to be associated with PRA in the above mentioned breeds.
It is normal for photoreceptors to develop after birth to about 8 weeks of age. However in kittens affected with PRA, the photoreceptors develop, but as the cat ages, the photoreceptors degenerate, leading initially to night blindness and progressing to total blindness at around 3-5 years of age.

Reference:
1. Menotti-Raymond M, David VA, Schäffer AA, Stephens R, Wells D, Kumar-Singh R, O'Brien SJ, Narfström  K. Mutation in CEP290 discovered for cat model of human retinal degeneration. J. Hered. 2007 May-Jun; 98(3):211-20. Epub 2007 May 16. PubMed PMID: 17507457. 2. Menotti-Raymond M, Deckman KH, David V, Myrkalo J, O'Brien SJ, Narfström K. Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Ophthalmol Vis Sci. 2010 Jun; 51(6):2852-9. Epub 2010 Jan 6. PubMed PMID: 20053974 3. Menotti-Raymond M, David VA, Pflueger S, Roelke ME, Kehler J, O'Brien SJ, Narfström K. Widespread retinal degenerative disease mutation (rdAc) discovered among a
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GM1 Gangliosidosis

Category:
Neurological

Mode of Inheritance:
Autosomal Recessive

Severity:
5red

Description:
Gangliosidoses are degenerative, fatal neurological diseases caused by abnormal accumulation of lipids known as gangliosides in central and peripheral nervous systems, and nerve cells in particular. Cats affected with gangliosidosis have progressive neurologic dysfunction and premature death. Two forms of gangliosidosis affect cats GM1 and GM2. Both have a genetic basis and a recessive mode of inheritance. Two copies of the defective gene are needed to cause the disease. Both diseases cause similar progressive neurologic dysfunction, including tremors, ataxia and dysmetria. Disease progression is more rapid in GM2.
Korat GM1 is caused by a mutation in exon 14 of the Beta-Galactosidase gene (GLB1). Disease onset begins around 3 months of age and reaches terminal stage around 9-10 months, at which point blindness and epileptiform seizures are also observed. The mutation has been found in the Siamese breed which was used in the development of the Korat breed.

Reference:
1. Martin D.R., B.A. Rigat, P. Foureman et al. Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Molecular Genetics and Metabolism 94: 212-221, 2008.
2. Blakemore, WF (1972) GM-1 gangliosidosis in a cat. J Comp Pathol
82:179

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GM2 Gangliosidosis

Category:
Neurological

Mode of Inheritance:
Autosomal Recessive

Severity:
5red

Description:
GM2 gangliosidosis is a degenerative, fatal neurological disease characterized by severe muscle tremors and loss of motor control. In Burmese cats, the disease is caused by a mutation in the feline hexoaminadase β-subunit (HEXB) gene which leads to abnormal swollen neurons and brain lesions. The inherited condition in affected kittens is first observed at 6-8 weeks of age beginning with mild tremors and leading to difficulty eating and lack of coordination. The condition is inherited as a recessive, autosomal disorder.


Reference:
  • 1. Yanato O, Matsunaga S, Takata K, Uetsuka K et al (2004) GM2 gangliosidosis variant O (Sandhoff-like disease) in a family of Japanese domestic cats The Veterinary Record 155(23) 739-744
2. Bradbury A.M., N.E Morrison, M. Hwang, N.R. Cox, H.J. Baker, D.R. Martin. Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminadase β-subunit deficiency. Molecular Genetics and Metabolism (2009), doi:10.1016/j.ymgme.2009.01.003
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Niemann-Pick Disease

Category:
Neurological

Mode of Inheritance:
Autosomal Recessive

Severity:
5red

Description:
Niemann-Pick C (NPC) disease is an autosomal recessive neurovisceral lysosomal storage disorder that results in defective intracellular transport of cholesterol characterized by neurologic dysfunction, hepatosplenomegaly, and early death. The defect results in the visceral and neuronal accumulation of sphingomyelin. Humans exhibit five subtypes (A, B, C, D and E) that differ in age of onset, lesion distribution, and sphingomyelinase activity. Feline models of Niemann-Pick disease of subtypes A and C have been recognized
Affected cats have an onset of clinical signs at a few weeks of age which progress. The predominant clinical signs relate to nervous system dysfunction and usually predominate as cerebrocortical and cerebellar dysfunction. However the neurologic signs at onset are variable and in some cats are predominately neuromuscular with tetraparesis, hypotonia and areflexia developing between 2 and 5 months of age.


Reference:
1. March PA, Thrall MA, Brown DE, Mitchell TW et al (1997) GABAergic neuroaxonal dystrophy and other cytopathological alterations in Niemann-Pick disease type C. Acta Pathologica 94(2) 164-172
2. Munana KR, Luttgen PJ, Thrall MA  et al (1994) Neurological manifestations of Niemann-Pick disease type-C in cats J Vet Int Med 8 117-121



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Erythrocyte PK Deficiency

Category:
Haematological

Mode of Inheritance:
Autosomal Recessive

Severity:
3red

Description:
Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency) is an inherited hemolytic anemia that occurs in Abyssinian, Somali and some domestic shorthair cats. The deficiency of this regulatory enzyme causes an instability of red blood cells which leads to anemia. The anemia is intermittent, the age of onset is variable and clinical signs are also variable. Symptoms of this anemia can include: severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. This condition is inherited as an autosomal recessive.


Reference:
1. Ford S et al (1992) Inherited erythroycte pyruvate kinase (PK) deficiency causing haemolytic anaemia in an Abyssinian cat.  Journal of Veterinary Internal Medicine 6, 123
2. Giger, U., Rajpurohit, Y., Wang, P, Wand, F., Ford, S., Kohn, B., Patterson D.F., Beutler, E., Henthorn, P.S.1997. Molecular basis of erythrocyte pyruvate kinase deficiency in cats. Blood 90:S5b
3. Giger, U. 2000. Hereditary Erythrocyte Disorders. In Consultations in Feline Internal Medicine. J.R. August, Saunders p 484-489
4. Giger, U. 2000. Hereditary Erythrocyte Disorders. In Kirk’s Current Veterinary Therapy XIII.  J. Bonagura, Saunders pp 414-419

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Hemophilia

Category:
Heamatologic

Mode of Inheritance:
Autosomal Recessive

Severity:
3red

Description:
Haemophilia is defined as a disease characterized by a susceptibility to bleeding. Haemophilia can be produced by decreased or absent coagulation factors within the blood. These can be congenital or secondary.
Three variants of haemophilia have been determined in cats: Hamophilia A, B and C (very rare). All present with similar clinical signs and determination of type is based on laboratory assessment of activated clotting time (ACT) and activated prothrombin time (aPTT).
A breed predisposition has been suggested in Main coons, British and Devon Rex breeds.
Haemophilia A has been detected in cats. This syndrome involves a Factor VIII deficiency.
It appears that the clinical history of each case differs and illustrates the spectrum of clinical manifestations of this disease in cats. Clinical expression of feline hemophilia A is similar to that of man and other animals, in which the degree of factor VIII deficiency tends to determine the severity and frequency of bleeding.All cats with this disease have severe protracted bleeding after minor surgical procedures. Hemorrhage is usually controlled by transfusions of fresh whole blood.
Haemophilia B and (factor IX - Hageman factor deficiency) is a genetic disease which has been reported in cats
. A cluster of outbreaks was reported in one family of British cats and in one case, a male domestic shorthair Haemophilia B was diagnosed based on factor IX deficiency with a functional residual activity of 5% and factor IX antigen of 8%, respectively. Additionally, factor XII activity was reduced to 32% of normal.

Reference:
1. Brown R (2008) Haemophilia in Maine Coon cats. Vet Rec 163(22):667
2. Littlewood JD & Evans RJ (1990) A combined deficiency of factor VIII and contact activation defect in a family of cats. Br Vet J
146(1):30-35
3. Goree M et al (2005) Characterization of the mutations causing hemophilia B in 2 domestic cats. J Vet Intern Med
19(2):200-204
4. Dillon AR & Boudreaux MK (1988) Combined factors IX and XII deficiencies in a family of cats. J Am Vet Med Assoc
193(7):833-834
5. Maggio-Price L & Dodds WJ (1993) Factor IX deficiency (hemophilia B) in a family of British shorthair cats. J Am Vet Med Assoc
203(12):1702-1704

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