Horse: Most important genetic diseases of the horse

Question 1

List the genetic diseases of the horse

Answer 1

1. Haemophilia
2. LWO
3. Melanomatosis
4. HYPP
5. SCID
6. EPSM
7. HERDA
8. GBED

Question 2

Equine Haemophilia

Answer 2

in WW & OO horses

Question 3

Equine LWO

Answer 3

Lethal white overo

• Endothelial β-receptor mutation
• Lack of colon ganglions (autosomal recessive)
• Colic + flatulence in foals
• Death in homozygotes

Question 4

Equine melanomatosis

Answer 4

• Seen in grey horses
• Benign melanomas
  
  • Eyes
  • Genital
  • Anus

Question 5

Equine HYPP

Answer 5

Hyperkalemic periodic paralysis

• Autosomal dominant missense mutation
• Na⁺ channel function disturbed
• Lameness
• Muscle weakness/paralysis

Question 6

Equine SCID

Answer 6

Severe combined immunodeficiency

• Deletion in protein kinase genes
• Poor T-&B-Lymphocytes
• Death in foals (Arabs)

Question 7

EPSM

Answer 7

Equine polysaccharide storage myopathy

• Metabolic storage disorder

Question 8

Equine HERDA

Answer 8

Hereditary equine regional dermal asthenia

• Autosomal recessive
• Collagen defect
• Loose skin layers

Question 9

GBED

Answer 9

Glycogen branching enzyme deficiency

• No glycogen storage
• Death in homozygous foals