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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
MLPH
Many breeds Dilute coat colour (predisposing risk factor for colour dilution alopecia) AR (complex)
26
MYO5A (dog)
Dachshund, many breeds Dilute coat colour with neurological defects AR
27
FOXI3
Chinese crested dog, Mexican hairless dog, Peruvian hairless dog Ectodermal dysplasia (makes them hairless) ASD
28
EDA
Dachshund, Yorkie, others Ectodermal dysplasia, anhidrotic XR
29
COL5A1
Labrador retriever Ehlers-Danlos syndrome, classic type 1 AD *Also reported in cats
30
ADAMTS2
Doberman Pinscher Ehlers-Danlos syndrome, type VII (dermatosparaxis) AR *also in cattle, sheep, and cats
31
HAS2
Shar-Pei Hyaluronanosis ASD
32
SGK3 (Scottish deerhound)
Scottish deerhound Hypotrichosis AR
33
PLG
Scottish terrier Ligneous membranitis AR
34
ADAMTSL2
Beagle Musladin-Lueke syndrome (geleophysic dysplasia) AR
35
SLC45A2
Doberman Pinscher Oculocutaneous albinism (predisposing risk factor for melanocytic neoplasms) AR
36
FLCN
German shepherd Renal cystadenocarcinoma and nodular dermatofibrosis AD
37
Cyclophilin B (PPIB)
Stock horses Hereditary equine regional dermal asthenia AR
38
FBN1
Cattle Marfan syndrome AD
39
KRT5
Cattle and a Welsh corgi Epidermolysis bullosa simplex
40
KRT14
Cats Epidermolysis bullosa simplex
41
ITB4
Cattle and sheep Junctional epidermolysis bullosa
42
LAMC2
Cattle, sheep, and horse (draft horses) Junctional epidermolysis bullosa
43
COL4A5
Samoyed Alport syndrome, early onset renal failure
44
COL4A4
English Cocker Nephropathy AR
45
PMEL17 (canine)
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
PSMB7
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
PMEL17 (equine)
Silver/Silver dapple horses o Rocky mtn horse, icelandic horses, others Autosomal dominant Heterozygous: ocular cysts Homozygous: multiple ocular abnormalities
48
APB3
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
MITF
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
EDNRB
Waardenburg Syndrome (Type IV) Equine "O" allele N/O = overo pattern O/O = lethal white foal White foal with colonic atresia --> dies
51
PAX3
Waardenburg Syndrome (Type I)
52
SLC45A2
MATP, Oculocutaneous albinism type 4 Autosomal recessive “White” (cream-colored) Doberman Pinschers -associated with melanomas Cream-dilution in horses
53
c-Kit or SCF/SF
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
MYO5A (horse)
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
MLPH
Color dilution in dogs
56
LYST
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
(DLA)-DQA1*00201
Leukocyte haplotype associated with uveodermatologic syndrome in Akitas
58
TRPM1
Leopard spotting in horses AD (incomplete) If homozygous = congenital stationary night blindness
59
KRT71
Curly/wavy hair phenotypes
60
FGF5
Angora (long anagen) hair type
61
SGK3 (American Terrier)
Hairlessness in the American Terrier (Hairless Rat Terrier) AR May have dental abnormalities *undesired mutation in Scottish deerhounds
62
STX17
Grey phenotype in horses AD Associated with melanomas
63
PLOD1
Fragile foal syndrome in horses AR Warmbloods predisposed
64
IKBKG
Incontinentia pigmenti (an ectodermal dysplasia) in horses X-linked dominant (only females survive)
65
KRT25
Curly coat phenotype in horses AD
66
SFOCD
Scottish fold (cat) osteochondrodysplasia phenotype AD (incomplete so worse in homozygotes)
67
PTPRQ
Doberman Pinschers AR Congenital syndrome of hearing loss and vestibular dysfunction - protein tyrosine phosphatase, receptor type Q
68
LOXHD1
Rottweilers AR nonsyndromic deafness and hearing loss
69
KLF7
Australian stumpy tail cattle dog Incomplete penetrance Congenital deafness
70
USP31
Border Collie Early Adult Onset Deafness at 3-5 yr
71
EPS8L2
Rhodesian Ridgeback Early Adult Onset Deafness at 1-2 yr old
72
RBBP6
Border Collie Early Adult Onset Deafness at 3-5 yr
73
CHD23
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
CFA20
Dalmatian dogs Congenital sensorineural deafness Located near the MITF gene that gives them their color pattern
75
LPAR6
Rex cats Responsible for the soft curly coat AR
76
ST14
Naked foal syndrome in Akhal-Teke horses Form of ectodermal dysplaisa (no hair, abnormal teeth and digestive tracts) AR, always fatal
77
PAN2 and MAP3K7CL
Genes linked to juvenile dermatomyositis in collies related to a particular MHC haplotype
78
(DLA)-DQA1*00201
leukocyte haplotype in Akitas linked to UVDS
79
COL17A1
JEB in two cats
80
PTPN22
Associated with AD in WHWT encodes a lymphoid tyrosine phosphatase
81
PROM1
Associated with AD in Goldens Less important? Mechanism unknown
82
RAB3C
Associated with AD in Goldens gene coding for a transporting protein found on lipid anchors
83
SLC39A4
Cattle, especially Fresians Encodes ZIP4, Lethal Trait A46 Zinc transport Improves with zinc supplementation
84
PLD4
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
PTPN11 (SHP2)
Histiocytic sarcoma in Bernese mountain dogs activates the MAPK) pathway

ACVD Exam (25 decks)

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