D15: Most important canine genetic diseases

Question 1

canine genetic diseases involving immunodeficiency?

Answer 1

• CLAD (canine leukocyte adhesion deficiency): Beta-2 integrin gene mutation in Irish Setter.
• SCID (severe combined immunodeficiency): Agammaglobulinemia in Basset Hound & Welsh Corgi.
• Membrano-proliferative glomerulonephritis I: Complement-3 mutation.
• Grey-Collie syndrome: Cyclic hematopoiesis & neutropenia.

Question 2

canine genetic diseases involving circulatory / haemolytic disorders?

Answer 2

• Methemoglobinemia: Methemoglobin reductase.
• Hemophilia A & B: Coagulation factors VIII & IX.
• Hemolytic anemia: Pyruvate kinase -> WHWT, Basenji, Abyssinian & Somali cats.
  ◦ Phosphofructokinase deficiency in RBC -> English springer spaniel.
• Von-Willebrand Disease: Pseudo-hemophilia
  ‣ Doberman, Poodle, Scottish Terrier, Sheltie (> 50 breeds).

Question 3

canine genetic diseases involving metabolic diseases?

Answer 3

• Ceroid-lipofuscinosis (Border collie)
• Fucosidosis (English springer spaniel)
• Gangliosidosis
• Mucopolysaccharidosis (German shepherd)
• Cystinuria (Newfoundland)
• Copper toxicosis (Bedlington terrier)

Question 4

canine genetic diseases involving musce

Answer 4

• Spinal muscular atrophy -> SMA.
• Muscular dystrophy: Dystrophin gene mutation in retrievers.
• Malignant hyperthermia syndrome-> MHS (Greyhounds).
• Tremor: Hypomyelinogenesis, myoclonia, PLP-gene mutation, proteolipid protein deficiency (Labrador).
• Myatonia congenital (miniature schnauzer).

Question 5

canine genetic diseases involving skeleton

Answer 5

• Chondroplasia, hypochondroplasia, achondroplasia: Basset hound, Dachshund breed characteristics.
• Dwarfism.
• Legg-calve-perthes disease (hip necrosis).
• Wobbler syndrome (ataxia, cervical spondilopathia).

Question 6

canine genetic diseases involving cranial disorders

Answer 6

• Epilepsy
• Narcolepsy (Doberman)
• Deafness – in blue eye white dogs & cats

Question 7

canine genetic diseases involving eye diseases

Answer 7

• Cataracts
• Progressive renal atrophy, dystrophy & degeneration (PRA -Retina dysplasia)
• Congenital stationary night blindness, CSNB -> Briard breed.
  *DNA testing for eye disorders

Question 8

canine genetic diseases involving kidney dysplasia

Answer 8

• Renal dysplasia, RL
• Nephritis
• Polycystic kidney disease (Persian cats)

Question 9

canine genetic diseases involving reproductive disordeers

Answer 9

• XX males
• Tfm-syndrome (Testicular feminization)
• Sterility (Kartgener syndrome, ciliary diseases)

Question 10

canine genetic diseases involving endocrinologuy

Answer 10

hypothyroidism
juvenile hyperparathyroidism
pituitary dwarfism
hyperadrencorticism –> Cushings
hypoadrenocorticism –> Addisons
diabetes mellitus

Question 11

canine genetic diseases involving skin and hair

Answer 11

• Albinism
• Dermatosparaxis (cutaneous asthenia)
• Epitheliogenesis imperfecta
• Hypotrichosis (alopecia → breed characteristic in Mexican & Peruvian dogs & Sphynx cats)

Question 12

canine genetic diseases involving MDR1 multidrug sensitivity

Answer 12

Extreme sensitivity, neural sensitivity & even death after administration of some drugs

example: collie and ketamine –> possible seizure