ChorobyChoroby spis

Psy

Lp Choroba/disease Breed Mutacja/mutation Gene Disease Code Chromosome
1 Progressive Retinal Atrophy, GR_PRA2 Golden retriver, Labrador retriver c.699delA TTC8 GRPRA2 8
2 Neuronal Ceroid Lipofuscinosis 5 (NCL5) American Bulldog, Border Collie, Chihuahua, Chinese Crested,

Dachshund, English Setter, Golden Retriever, Gordon Setter,

Saluki, Tibetan

c.934_935delAG CLN5 NCL5 22
3 Neuronal Ceroid Lipofuscinosis 5 (NCL5) Border collie

Australian catle dog

Koolie

c.619C>T CLN5 NCL5 22
4 Degenerative Myelopathy exon 2 (DM exon 2) All breeds c.118G>A SOD1 DM 31
5 Von Willebrands Disease Type I (vWD1) Basset Hound Bernese Mountain Dog,

Coton de Tulear, Dobermann,

Drentsche Patrijshond, German Pinscher, German Shepherd

Kerry Blue Terrier,

Kromfohrländer, Manchester Terrier,

Papillon,

Pembroke Welsh Corgi,

Poodle, Stabyhoun,

c.743G>A VWF VWF1 27
6 Factor VII Deficiency (proconvertin deficiency, FVII) Airedale Terrier, Alaskan Klee Kai, Beagle,

Finnish Hound,

Giant Schnauzer, Scottish Deerhound,

Welsh Springer Spaniel

c.407G>A F7 F7 22
7 Brachyuria (stumpy tail) Australian Shepherd, Australian Stumpy Tail Cattle Dog,

Austrian Pinscher, Bourbonnais Pointer,

Bouvier des Ardennes,

Brazilian Terrier, Brittany Spaniel, Croatian Sheepdog, Danish/Swedish

Farmdog,

Jack Russell Terrier, Karelian Bear Dog,

Mudi, Polish

Lowland Sheepdog, Pyrenean Shepherd,

Savoy Sheepdog,

Schipperke, Spanish Waterdog, Swedish Vallhund, Welsh Corgi

c.295C>G c189C>G T

T

1

1

8 Multifocal retinopathy (CMR1/2/3) American Bulldog, Australian Shepherd, Boerboel, Bullmastiff,

Cane Corso,

Coton de Tulear,

Dogo Canario, Dogue de Bordeaux,

English Bulldog, Finnish Lapphund, French Bulldog,

Lapponian Herder, Mastiff, Pyrenean Mountain Dog,

Swedish Lapphund

c.73C>T BEST1 CMR 18
9 Collie Eye Anomaly (CEA) Australian Shepherd,

Bearded Collie, Border Collie, Boykin Spaniel,

Hokkaido, Lancashire Heeler, Longhaired Wippet,

Nova Scotia Duck Tolling Retriever, Rough/Smooth Collie,

Shetland Sheepdog,

Silken Windhound

c.588+462_588+8260del7799bp NHEJ1 CEA 37
10 Hyperuricosuria (SLC) All breads c.616G>T SLC2A9 HUU 3
11 Progressive Retinal Atrophy, (rcd-4-PRA) Australian Cattle Dog,

English Setter, Gordon Setter,

Irish Setter,

Irish Red & White Setter,

Old Danish Pointing Dog,

Polish Lowland Sheepdog,

Poodle, Small Munsterlander,

Tatra Shepherd Dog, Tibetan Terrier

c.3149_3150insC C2orf71 Rcd4
12 Progressive retinal atrophy (prcd-PRA) American Cocker Spaniel,

American Eskimo Dog,

Australian Cattle Dog, Australian Shepherd,

Australian Stumpy Tail Cattle Dog, Barbet, Bearded , Collie,

Bolognese, Bolonka Zwetna, Chesapeake Bay Retriever,

Chihuahua, Chinese Crested, English Cocker Spaniel,

English Shepherd, Entlebucher , Mountain Dog,

Finnish Lapphund, German Spitz, Giant Schnauzer,

Golden Retriever, Jack Russell Terrier,

Karelian Beardog,

Kuvasz,

Labrador Retriever,

Lagotto Romagnolo,

Lapponian Herder, Markiesje, Norwegian Elkhound,

Nova Scotia Duck Tolling Retriever, Parson Russell Terrier,

Portuguese Water Dog,

Poodle, Schipperke,

Silky Terrier,

Spanish Water Dog,

Swedish Lapphund,

Wäller, Yorkshire Terrier

c.5G>A prcd prcd 9
13 Primary lens luxation (PLL) American Eskimo Dog,

American Hairless Terrier,

Australian Cattle Dog,

Chinese Crested, Danish Swedish Farmdog,

Fox Terrier, German Hunting Terrier,

Jack Russell Terrier,

Lakeland Terrier, Lancashire Heeler, Lucas Terrier,

Miniature Bull Terrier,

Norfolk Terrier, Norwich Terrier,

Parson Russell Terrier,

Patterdale Terrier, Pug,

Rat Terrier,

Sealyham Terrier, Teddy Roosevelt Terrier,

Tenterfield Terrier,

Tibetan Terrier, Toy Fox Terrier, Volpino Italiano, Welsh Terrier,

Westphalia Terrier, Yorkshire Terrier

c.1473+1G>A ADAMTS17 PLL 3
14 Multi-drug resistance (Ivermectin hypersensibility) Australian Shepherd, 

Border Collie,

Elo,

German Shepherd,

Longhaired Whippet,

McNab, Old English Sheepdog,

Rough/Smooth Collie,

Shetland Sheepdog,

Silken Windhound,

Wäller,

White Shepherd

c.295_298del ABCB1 MDR1 17
15 Congenital macrothrombocytopenia (MTC) Bichon Frise, Boxer,

Cairn Terrier, Cavalier King Charles Spaniel,

Chihuahua,

Cocker Spaniel, Havanese,

Jack Russell Terrier,

Labrador Retriever,

Maltese, Norfolk Terrier,

Parson Russell Terrier,

Poodle,

Shih Tzu

c.745G>A TUBB1 24
16 Chondrodysplasia (CDPA) and -dystrophy (CDDY) (IVDD risk) All breeds

 

KOTY

LP Choroba/disease Breed Mutacja/mutation Gene Disease Code Chromosome
1 Mucopolysaccharidosis type VII (MPS7) All breeds c.1107_1109 del IDUA MPSI Un3
2 Myotonia congenita All breeds c.1427T>C;

c.1558G>A (mild form)

ARSB MPSVI A1
3 Pyruvate kinase deficiency (PK) Abyssinian, Bengal,

Domestic Longhair, Domestic Shorthair,

Egyptian

Mau,

La Perm, 

Maine Coon,

Norwegian Forest Cat,

Ocicat,

Persian,

Pixie – bob

Savannah,

Siberian, Singapura,

Somali

c.693+304G>A PKLR PK F1
4 Progressive retinal atrophy (rdAc-PRA) Abyssinian, 

All Exept AB,

American Curl/Wirehair, Balinese,

Bengal, Colourpoint Shorthair,

Cornish Rex, 

Elf,

Javanese, Munchkin,

Ocicat,

Oriental Shorthair,

Peterbald, Siamese, Singapura,

Somali,

Thai, 

Tonkinese

IVS50+9T>G CEP290 PRA-rdAc B 4
5 Progressive retinal atrophy (pd-PRA) Angora,

Birman, British Short- and Longhair, Chartreux, Colourpoint,

Exotic Shorthair, Persian,

Ragdoll,

Russian Blue, Scottish Fold, Selkirk

Rex

6 Polycystic kidney disease (PKD) Angora,

Bombay, 

Birman, 

British Short- and Longhair, 

Burmila,

Chartreux, Colourpoint,

Cornish rex,

Devon rex,

Exotic Shorthair, 

Himalayan,

Main coon,

Munchkin,

Persian,

Ragdoll, 

Russian Blue,

Sacred birman,

Scottish Fold, Selkirk

Rex,

Siamese,

Snowshoe,

Sphynx,

Turkish van

c.10063C>A PKD1 PKD E3
7 Hypokalcemia Australian Mist, Burmese,

Cornish Rex, Devon Rex, Singapura,

Sphynx,

Tonkinese

8 Gangliosidosis (GM1) Burmese,

Domestic Shorthair,

Highland Lynx,

Korat,

Malayan,

Oriental Shorthair, Pixie-bob,

Peterbald, 

Siamese,

Thai,

c.1448G>C 23
9 Gangliosidosis (GM2) All Exept AB,

Burmese,

Burmille,

Domestic Shorthair,

Japanese domestic,

Korat,

Malayan,

c.1244-8_1250del HEXB GM2 A1

 

Leave a Reply

Your email address will not be published. Required fields are marked *