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 |