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

B4GALT7

A

Dwarfism in Friesians short legs | lax tendons | abnormal gait

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16
Q

SRY

A

Ovotesticular disorder

Y linked

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17
Q
A
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18
Q

DMRT3

A

Gaitedness

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19
Q

SERPIN B11

A

Hoof wall separation in Connemara

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20
Q

SHOX

A

Dwarfism, skeletal ativism in Shetland and Mini

Radius and ulna fully formed

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21
Q

ITGA2b

A

Glanzmann Thrombasthenia

platelet fibrinogen receptor

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22
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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23
Q

LAMC3

A

JEB in Draft Horses can involve hoof detachment

24
Q

SLC5A3

A

Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too

25
IKBKG
Incontinentia Pigmenti X-linked semidominant abnormalities of eyes, teeth, hooves male foals abort
26
PPIB
Cyclophilin B - HERDA AR
27
PMEL17
Multiple Ocular Defects Semi dominant
28
RYR1
Malignant Hyperthermia Autosomal Dominant Triggers = stress, exercise, GA
29
IMM in QH - see lymphocytes in mm fibers
MYH1
30
Lavender Foal Syndrome (Color coat dilution lethal) arabian/egyptian foals Cannot stand, rigid limb extension
MYO5A
31
Congenital night blindness Apaloosa, linked to leopard spotting complex
TRPM1
32
Ocular SCC Haflinger | Percheron | Belgian Draft DNA repair in UV light damage
DDB2
33
Curly Coat Autosomal Dominant
KRT25 and SP6
34
OAAM Arabians Incoordination - weak foal
HODX3
35
PSSM1 Autosomal dominant Gain of function mutation
GYS1
36
Dwarfism and abnormal cartilage growth in shetland ponies AR
ACAN
37
SCID in Arabian and X B and T lymphocytes
DNAPKcs
38
Hydrocephalus in Friesians Stillbirth and dystocia
B3GALNT2
39
Naked foal syndrome Akhal Teke Lethal hairlessness, dry thick skin \<3y
ST14
40
HYPP Autosomal semi dominant
SCN4A
41
GBED QH - cannot store glycogen weak and die
GBE1
42
Cerebellar Abiotrophy Arabian and German Riding Pony Autosomal Recessive Ataxia from 6weeks Purkinje cell degeneration
MUTYH/ TOE1
43
Dwarfism in Friesians short legs | lax tendons | abnormal gait
B4GALT7
44
Ovotesticular disorder Y linked
SRY
45
46
Gaitedness
DMRT3
47
Hoof wall separation in Connemara
SERPIN B11
48
Dwarfism, skeletal ativism in Shetland and Mini Radius and ulna fully formed
SHOX
49
Glanzmann Thrombasthenia platelet fibrinogen receptor
ITGA2b
50
Warmblood fragile foal syndrome Also in TB, Hanoverian, Morgan Not associated with fractures in TB - low prevalence 1%
PLOD1
51
JEB in Draft Horses can involve hoof detachment
LAMC3
52
Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too
SLC5A3
53
Incontinentia Pigmenti X-linked semidominant abnormalities of eyes, teeth, hooves male foals abort
IKBKG
54
Cyclophilin B - HERDA AR
PPIB
55
Multiple Ocular Defects Semi dominant
PMEL17
56
Malignant Hyperthermia Autosomal Dominant Triggers = stress, exercise, GA
RYR1