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General - LA 2 > Equine Genetic Disease > Flashcards

Equine Genetic Disease Flashcards

1
Q

MYH1

A

IMM in QH - see lymphocytes in mm fibers

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2
Q

MYO5A

A

Lavender Foal Syndrome (Color coat dilution lethal)

arabian/egyptian foals

Cannot stand, rigid limb extension

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3
Q

TRPM1

A

Congenital night blindness

Apaloosa,

linked to leopard spotting complex

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4
Q

DDB2

A

Ocular SCC

Haflinger | Percheron | Belgian Draft

DNA repair in UV light damage

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5
Q

KRT25 and SP6

A

Curly Coat Autosomal Dominant

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6
Q

HODX3

A

OAAM

Arabians

Incoordination - weak foal

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7
Q

GYS1

A

PSSM1

Autosomal dominant

Gain of function mutation

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8
Q

ACAN

A

Dwarfism and abnormal cartilage growth in shetland ponies AR

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9
Q

DNAPKcs

A

SCID in Arabian and X

B and T lymphocytes

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10
Q

B3GALNT2

A

Hydrocephalus in Friesians Stillbirth and dystocia

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11
Q

ST14

A

Naked foal syndrome

Akhal Teke

Lethal hairlessness, dry thick skin

<3y

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12
Q

SCN4A

A

HYPP

Autosomal semi dominant

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13
Q

GBE1

A

GBED QH - cannot store glycogen weak and die

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14
Q

MUTYH/ TOE1

A

Cerebellar Abiotrophy Arabian and German Riding Pony Autosomal Recessive Ataxia from 6weeks Purkinje cell degeneration

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15
Q

SRY

A

Ovotesticular disorder

Y linked

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16
Q

DMRT3

A

Gaitedness

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17
Q

ITGA2b

A

Glanzmann Thrombasthenia

platelet fibrinogen receptor

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18
Q

PLOD1

A

Warmblood fragile foal syndrome

Also in TB, Hanoverian, Morgan

Not associated with fractures in TB - low prevalence 1%

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19
Q

LAMC3

A

JEB in Draft Horses can involve hoof detachment

20
Q

SLC5A3

A

Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too

21
Q

PPIB

A

Cyclophilin B - HERDA AR

22
Q

PMEL17

A

Multiple Ocular Defects

Semi dominant

23
Q

RYR1

A

Malignant Hyperthermia

Autosomal Dominant

Triggers = stress, exercise, GA

24
Q

IMM in QH - see lymphocytes in mm fibers

A

MYH1

25
Q

Lavender Foal Syndrome (Color coat dilution lethal)

arabian/egyptian foals

Cannot stand, rigid limb extension

A

MYO5A

26
Q

Congenital night blindness

Apaloosa,

linked to leopard spotting complex

A

TRPM1

27
Q

Ocular SCC

Haflinger | Percheron | Belgian Draft

DNA repair in UV light damage

A

DDB2

28
Q

Curly Coat Autosomal Dominant

A

KRT25 and SP6

29
Q

OAAM

Arabians

Incoordination - weak foal

A

HODX3

30
Q

PSSM1

Autosomal dominant

Gain of function mutation

A

GYS1

31
Q

SCID in Arabian and X

B and T lymphocytes

A

DNAPKcs

32
Q

Naked foal syndrome

Akhal Teke

Lethal hairlessness, dry thick skin

<3y

A

ST14

33
Q

HYPP

Autosomal semi dominant

A

SCN4A

34
Q

GBED QH - cannot store glycogen weak and die

A

GBE1

35
Q

Cerebellar Abiotrophy Arabian and German Riding Pony Autosomal Recessive Ataxia from 6weeks Purkinje cell degeneration

A

MUTYH/ TOE1

36
Q

Ovotesticular disorder

Y linked

A

SRY

37
Q

Gaitedness

A

DMRT3

38
Q

Dwarfism, skeletal ativism in Shetland and Mini

Radius and ulna fully formed

A

SHOX

39
Q

Glanzmann Thrombasthenia

platelet fibrinogen receptor

A

ITGA2b

40
Q

Warmblood fragile foal syndrome

Also in TB, Hanoverian, Morgan

Not associated with fractures in TB - low prevalence 1%

A

PLOD1

41
Q

JEB in Draft Horses can involve hoof detachment

A

LAMC3

42
Q

Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too

A

SLC5A3

43
Q

Cyclophilin B - HERDA AR

A

PPIB

44
Q

Multiple Ocular Defects

Semi dominant

A

PMEL17

45
Q

Malignant Hyperthermia

Autosomal Dominant

Triggers = stress, exercise, GA

A

RYR1

General - LA 2 (10 decks)

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