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ACVD Exam > Genetic Dermatoses > Flashcards

Genetic Dermatoses Flashcards

1
Q

SUV39H2

A

Labrador Retriever, Greyhound
Hereditary nasal parakeratosis
AR

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2
Q

MKLN1

A

Bull Terrier, Miniature Bull Terrier
Lethal acrodermatitis
AR
Encodes adhesion molecule and zinc transporter
Low zinc but do not respond to supplementation

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3
Q

FAM83H

A

Cavalier King Charles Spaniel
Congenital keratoconjunctivitis sicca and ichthyosis
AR

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4
Q

GDNF

A

Hunting dogs (spaniels and pointers)
Acral mutilation syndrome
AR (incomplete penetration)

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5
Q

LAMA3

A

German Shorthaired Pointer, a Saddlebred, and a cow (Belgian blue)
Junction bullous epidermolysis
AR

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6
Q

PLEC

A

Eurasier dog, Chesapeake Bay Retriever
Epidermolysis bullosa simplex
AR

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7
Q

COL7A1

A

Central Asian Shepherd, Basset, Golden
Dystrophic epidermolysis bullosa
AR

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8
Q

UNC93B1

A

German Shorthaired Pointer, Hungarian Vizsla, Braque du Bourbonnais
Exfoliative cutaneous lupus erythematosus
AR

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9
Q

FAM83G

A

Irish Terrier, Kromfohrlander, Bordeaux Dane, French Mastiff
Hereditary footpad hyperkeratosis
AR

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10
Q

PNPLA1

A

Golden Retriever
Non-epidermolytic ichthyosis (type 1)
AR

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11
Q

SLC27A4

A

Great Dane
Non-epidermolytic ichthyosis (codes for FATP4)
AR

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12
Q

NIPAL4

A

American Bulldog
Non-epidermolytic ichthyosis
AR
Results in a truncated “ichthyin” protein

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13
Q

TGM1

A

Jack Russell Terrier
Non-epidermolytic/lamellar ichthyosis
AR

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14
Q

KRT10

A

Norfolk Terrier
Epidermolytic ichthyosis
AR

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15
Q

DSG1

A

Rottweiler
Footpad hyperkeratosis and allergies
AR/ASD

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16
Q

KRT16

A

Dogue de Bordeaux
Footpad hyperkeratosis
AR

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17
Q

ABHD5

A

Golden retriever
Non-epidermolytic ichthyosis (type 2)
AD

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18
Q

ASPRV1

A

German shepherd
Non-epidermolytic ichtyosis
AD

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19
Q

KRT1

A

Shar-Pei
Epidermolytic ichthyosis
AD

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20
Q

NSDHL

A

Greyhounds/Labradors and chihuahua (slightly separately)
Verrucous epidermal keratinocytic nevi
XSD

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21
Q

PKP1

A

Chesapeake Bay retriever
Ectodermal dysplasia/skin fragility syndrome
AR

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22
Q

LAMB3

A

Australian shepherd
Junctional epidermolysis bullosa
AR

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23
Q

ATP2A2 aka SERCA2

A

Irish terrier/setters
Darier disease
AD

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24
Q

FGF3 (or 4 or 19)

A

Rhodesian Ridgeback, Thai Ridgeback
Dermoid sinus
AR (complex)

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25
Q

MLPH

A

Many breeds
Dilute coat colour (predisposing risk factor for colour dilution alopecia)
AR (complex)

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26
Q

MYO5A
(dog)

A

Dachshund, many breeds
Dilute coat colour with neurological defects
AR

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27
Q

FOXI3

A

Chinese crested dog, Mexican hairless dog, Peruvian hairless dog
Ectodermal dysplasia (makes them hairless)
ASD

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28
Q

EDA

A

Dachshund, Yorkie, others
Ectodermal dysplasia, anhidrotic
XR

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29
Q

COL5A1

A

Labrador retriever
Ehlers-Danlos syndrome, classic type 1
AD

*Also reported in cats

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30
Q

ADAMTS2

A

Doberman Pinscher
Ehlers-Danlos syndrome, type VII (dermatosparaxis)
AR

*also in cattle, sheep, and cats

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31
Q

HAS2

A

Shar-Pei
Hyaluronanosis
ASD

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32
Q

SGK3 (Scottish deerhound)

A

Scottish deerhound
Hypotrichosis
AR

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33
Q

PLG

A

Scottish terrier
Ligneous membranitis
AR

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34
Q

ADAMTSL2

A

Beagle
Musladin-Lueke syndrome (geleophysic dysplasia)
AR

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35
Q

SLC45A2

A

Doberman Pinscher
Oculocutaneous albinism (predisposing risk factor for melanocytic neoplasms)
AR

36
Q

FLCN

A

German shepherd
Renal cystadenocarcinoma and nodular dermatofibrosis
AD

37
Q

Cyclophilin B (PPIB)

A

Stock horses
Hereditary equine regional dermal asthenia
AR

38
Q

FBN1

A

Cattle
Marfan syndrome
AD

39
Q

KRT5

A

Cattle and a Welsh corgi
Epidermolysis bullosa simplex

40
Q

KRT14

A

Cats
Epidermolysis bullosa simplex

41
Q

ITB4

A

Cattle and sheep
Junctional epidermolysis bullosa

42
Q

LAMC2

A

Cattle, sheep, and horse (draft horses)
Junctional epidermolysis bullosa

43
Q

COL4A5

A

Samoyed
Alport syndrome, early onset renal failure

44
Q

COL4A4

A

English Cocker
Nephropathy
AR

45
Q

PMEL17 (canine)

A

SILV, Merle
Autosomal incomplete dominant (worse double merles)
Patches with diluted pigment and other of full pigment
May have ocular or skeletal abnormalities and potential deafness

46
Q

PSMB7

A

Modifier of SILV (PMEL17) Merle
* must also have merle
Great Dane
Autosomal dominant, but homozygous is frequently embryonic lethal
Irregular dark patches on a white background
Increases cytotoxicity of altered Pmel

47
Q

PMEL17 (equine)

A

Silver/Silver dapple horses
o Rocky mtn horse, icelandic horses, others
Autosomal dominant
Heterozygous: ocular cysts
Homozygous: multiple ocular abnormalities

48
Q

APB3

A

Canine cyclic hematopoiesis/neutropenia aka “gray collie syndrome”
Dog form of hermansky-pudlak type 2
Affects cargo sorting for melanin and hematopoietic
Autosomal recessive, lethal

49
Q

MITF

A

Waardenburg Syndrome (Type II)
Cat, dog (great Dane, collie, bull terrier, dalmation), cattle, mink, hamster
Autosomal dominant
Deafness, no melanocytes, no retinal pigment epithelium (blue eyes)
*incomplete inner ear degeneration in cats

50
Q

EDNRB

A

Waardenburg Syndrome (Type IV)
Equine
“O” allele
N/O = overo pattern
O/O = lethal white foal
White foal with colonic atresia –> dies

51
Q

PAX3

A

Waardenburg Syndrome (Type I)

52
Q

SLC45A2

A

MATP, Oculocutaneous albinism type 4
Autosomal recessive
“White” (cream-colored) Doberman Pinschers
-associated with melanomas
Cream-dilution in horses

53
Q

c-Kit or SCF/SF

A

Dominant white spotting locus (W)
Widespread and accepted in animals
Coat appearing to have pigmented spots on a white background
No associated problems with eyes or ears

54
Q

MYO5A
(horse)

A

Lavender foal syndrome aka coat color dilution lethal
Egyptian Arabian horses
Autosomal recessive, fatal
Defect in myosin-Va which is important for melanocytes and nerves
- color dilution, neurologic, die

55
Q

MLPH

A

Color dilution in dogs

56
Q

LYST

A

Chediak-Higashi Syndrome
Persian cats, GSD, Hereford cattle, blue rats, mice, foxes, orca
- Aleutian color mink have this
Autosomal recessive
Large lysosomes can be seen in neutrophils and macrophages
Macromelanosomes
Albinism, photophobia, increased risk of infection

57
Q

(DLA)-DQA1*00201

A

Leukocyte haplotype associated with uveodermatologic syndrome in Akitas

58
Q

TRPM1

A

Leopard spotting in horses
AD (incomplete)
If homozygous = congenital stationary night blindness

59
Q

KRT71

A

Curly/wavy hair phenotypes

60
Q

FGF5

A

Angora (long anagen) hair type

61
Q

SGK3 (American Terrier)

A

Hairlessness in the American Terrier (Hairless Rat Terrier)
AR
May have dental abnormalities

*undesired mutation in Scottish deerhounds

62
Q

STX17

A

Grey phenotype in horses
AD
Associated with melanomas

63
Q

PLOD1

A

Fragile foal syndrome in horses
AR
Warmbloods predisposed

64
Q

IKBKG

A

Incontinentia pigmenti (an ectodermal dysplasia) in horses
X-linked dominant (only females survive)

65
Q

KRT25

A

Curly coat phenotype in horses
AD

66
Q

SFOCD

A

Scottish fold (cat) osteochondrodysplasia phenotype
AD (incomplete so worse in homozygotes)

67
Q

PTPRQ

A

Doberman Pinschers
AR
Congenital syndrome of hearing loss and vestibular dysfunction
- protein tyrosine phosphatase, receptor type Q

68
Q

LOXHD1

A

Rottweilers
AR
nonsyndromic deafness and hearing loss

69
Q

KLF7

A

Australian stumpy tail cattle dog
Incomplete penetrance
Congenital deafness

70
Q

USP31

A

Border Collie
Early Adult Onset Deafness at 3-5 yr

71
Q

EPS8L2

A

Rhodesian Ridgeback
Early Adult Onset Deafness at 1-2 yr old

72
Q

RBBP6

A

Border Collie
Early Adult Onset Deafness at 3-5 yr

73
Q

CHD23

A

Beauceron
AR
non‐syndromic deafness
encodes a calcium‐dependent transmembrane glycoprotein localized near the tips of hair‐cell stereocilia in the mammalian inner ear

74
Q

CFA20

A

Dalmatian dogs
Congenital sensorineural deafness
Located near the MITF gene that gives them their color pattern

75
Q

LPAR6

A

Rex cats
Responsible for the soft curly coat
AR

76
Q

ST14

A

Naked foal syndrome in Akhal-Teke horses
Form of ectodermal dysplaisa (no hair, abnormal teeth and digestive tracts)
AR, always fatal

77
Q

PAN2 and MAP3K7CL

A

Genes linked to juvenile dermatomyositis in collies
related to a particular MHC haplotype

78
Q

(DLA)-DQA1*00201

A

leukocyte haplotype in Akitas
linked to UVDS

79
Q

COL17A1

A

JEB in two cats

80
Q

PTPN22

A

Associated with AD in WHWT
encodes a lymphoid tyrosine phosphatase

81
Q

PROM1

A

Associated with AD in Goldens
Less important? Mechanism unknown

82
Q

RAB3C

A

Associated with AD in Goldens
gene coding for a transporting protein found on lipid anchors

83
Q

SLC39A4

A

Cattle, especially Fresians
Encodes ZIP4, Lethal Trait A46
Zinc transport
Improves with zinc supplementation

84
Q

PLD4

A

Cattle, especially Fleckvieh
Phospholipase encoding gene
- role in keratinization and lipid lamellae formation
Clinical signs resemble Lethal Trait A46
Different mutation, do not respond to zinc

85
Q

PTPN11 (SHP2)

A

Histiocytic sarcoma in Bernese mountain dogs
activates the MAPK) pathway

ACVD Exam (25 decks)

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