Disorder |
Inheritance |
Breeds |
Lab |
Gene |
Reference |
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Alport Syndrome |
|
mixed breed (colony) |
|
COL4A5 |
Cox et al. 2003 |
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Blindness (Day) |
|
Dachshund - Wirehaired |
|
Nephroretinin |
Wilk et al. 2008 France |
|
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|
|
|
Canine Leukocyte Adhesion Deficiency |
Autosomal recessive |
Irish Setter |
HealthGene |
ITGB-2 |
Kijas et al. 1999, Foureman et al. 2002 |
|
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Catalase Deficiency |
|
Beagle |
|
CAT |
Nakamura et al. 2000 |
|
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Centronuclear Myopathy |
|
Labrador Retriever |
www.labradorcnm.com/ |
PTPLA |
Pele et al. 2005 |
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Ceroid Lipfuscinosis |
|
English Setter |
|
CNL8 |
Katz et al. 2005 |
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Collie Eye Anomaly |
Autosomal recessive |
herding dogs |
Optigen |
|
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Complement C3 Deficiency |
|
Brittany Spaniel |
|
C3 |
Ameratunga et al. 1998 |
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Cone Degeneration |
Autosomal recessive |
German Shorthair |
Optigen |
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Congenital Stationary Night Blindness |
Autosomal recessive |
Briard |
HealthGene |
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Copper Toxicosis |
Autosomal recessive |
Bedlington Terriers |
Veterinary Diagnostics Center |
MURR1 |
van de Sluis et al. 2003 |
|
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Cyclic Neutropenia |
Autosomal recessive |
Collie |
HealthGene |
AP3B |
Benson et al. 2003 |
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Cystinuria |
Autosomal recessive |
Newfoundland |
HealthGene, PennGen |
SLC3A1 |
Henthorn et al. 2000 |
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Dwarfism |
|
German Shepherd Dog |
|
LHX3 |
Leegwater et al. 2008 France |
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Ectodermal Dysplasia |
X-linked recessive |
German Shepherd |
|
EDA |
Casal et al. 2005 |
|
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Elliptocytosis |
|
mixed breed |
|
EPB41 |
Conboy et al. 1991 |
|
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Epidermolysis Bullosa (dystrophic form) |
|
Golden Retriever |
|
COL7A1 |
Baldeschi et al. 2003 |
|
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Epidermolysis Bullosa (junctional form) |
|
German Shorthair |
|
LAMA3 |
Capt et al. 2005 |
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Epilepsy (Lafora Type) |
|
Miniature Wirehaired Dachshund |
|
NHLRC1 |
Brabury 2005, Lohi et al. 2005 |
|
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Exercise Induced Collapse |
|
Retriever breeds |
Mickelson lab, U Minn |
DNM1 |
Mickelson et al. 2008 France |
|
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Epilepsy (Juvenile Form) |
|
Lagotto Romagnolo |
Lohi Lab, Finland |
EPM2B |
Sepala et al. 2008 France |
|
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Factor VII Deficiency |
|
Beagle |
|
Factor 7 |
Callan et al. 2005 |
|
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Fucosidodis |
|
English Springer Spaniel |
PennGen |
FUCA |
Skelly et al. 1996, Occhiodoro and Anson 1996 |
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Glanzmann's type Thrombasthenia |
|
Great Pyrenees< Otterhound |
|
GPAIIB |
Boudreaux & Limpscomb 2001 |
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Globoid Cell Leukodystrophy |
Autosomal recessive |
Cairn and West Highland White Terriers |
HealthGene |
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Glycogen Storage Disease |
|
Maltese |
|
G6PC |
Kishnani et al. 1997 |
|
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GM1 Gangliosidosis |
Autosomal recessive |
Portuguese Water Dog |
HealthGene |
GLB1 |
Wang et al. 2000 |
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Hemophilia A (Factor VIII) |
|
mixed breed |
|
Factor 8 |
Hough et al. 2002, Lozier et al. 2002 |
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Hemophilia B - Factor IX |
X-linked recessive |
Aiiredale, Bull Terrier, Lhasa Apso, Lab |
HealthGene |
Factor 9 |
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Hypothyroidism with Goiter |
Autosomal recessive |
Toy Fox Terrier |
HealthGene |
TPO |
Fox et al. 2003 |
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Innerslund-Grasbeck Cobalamin Malabsorption |
Giant Schnauzer |
|
AMN |
Fyfe et al. 2004 |
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Ivermectin Sensitivity |
|
herding |
HealthGene |
MDR1 |
Mealey et al. 2001, Roulet et al. 2003, Neff et al.
2004 |
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Leishmania Sensitivity |
|
Pembroke Welsh Corgi |
|
NRAMP1 |
Somberg et al. 1994 |
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Malignant Hyperthermia |
|
Greyhound |
|
RYR1 |
Roberts et al. 2001 |
|
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Mucopolysaccharidosis I (Hurler) |
|
Plott Hound |
|
IDUA |
Stoltzfus et al. 1992, Menon et al. 1992 |
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Mucopolysaccharidosis IIIA |
|
Wirehaired Dachshund |
|
SGSH |
Aronovich et al. 2000 |
|
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Mucopolysaccharidosis IIIB |
|
Schipperke, New Zealand Huntaway |
|
NAGLU |
Ellinwood (unpublished) |
|
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Mucopolysaccharidosis VI |
|
Miniature Pinscher |
PennGen |
ARSB |
Foureman et al. 2004 |
|
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Mucopolysaccharidosis VII (MPS) |
|
German Shepherd, mixed |
|
GUSB |
Silverstein Dombrowski et al. 2004 |
|
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Muscular Dystrophy |
X-linked recessive |
Golden Retriever |
|
DMD |
Sharp et al. 1992 |
|
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Myotonia Congenita |
Autosomal recessive |
Miniature Schnauzer |
HealthGene, PennGen |
CIC-1 |
Rhodes et al. 1999 |
|
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Narcolepsy |
Autosomal recessive |
Labs, Dobermans, Dachshunds |
HealthGene, Optigen |
HCRTR2 |
Riehl et al. 1998, Lin et al. 1999 |
|
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Osteogenesis Imperfecta |
Autosomal Dominant |
German Shorthair, Beagle, Golden Retriever |
COL1A2 |
Campbell et al. 2000, 2001 |
|
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Phosphofructokinase Deficiency |
Autosomal recessive |
English Springer Spaneils, Cocker Spaniels |
Optigen, VetGen, PennGen |
Smith et al. 1996 |
|
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Progressive Retinal Atrophy |
Autosomal recessive |
several |
Optigen |
|
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Progressive Retinal Atrophy |
X-linked recessive |
Samoyed, Siberian Husky |
Optigen |
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Pyruvate Kinase Deficiency |
Autosomal recessive |
Basengi, West Highland White |
HealthGene, Optigen |
PKLR |
Whitney et al. 1994 |
|
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Renal Cystadenocarcinoma (RCND) |
|
German Shepherd |
|
FLCN |
Lingaas et al. 2003 |
|
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Sensory Ataxic Neuropathy |
Mitochondrial |
Golden Retriever |
|
TYR (Mito form) |
Baranowska et al. 2008 France |
|
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Severe Combined Immune Deficiency |
Autosomal recessive |
Jack Russell Terriers |
|
PRKDC |
Ding et al. 2002 |
|
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|
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Severe Combined Immune Deficiency |
X-linked recessive |
Basset Hound |
PennGen |
IL2RG |
Henthorn et al. 1994 |
|
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Shaking Puppy |
|
English Springer Spaniel |
|
PLP1 |
Nadon et al. 1990, Tosic et al. 1997 |
|
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Tail Brachyury |
Autosomal Dominant |
Pembroke Welsh Corgi |
|
T-Box |
Haworth et al. 2001 |
|
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Von Willebrand |
|
several |
VetGen |
Von Willebrand Factor |
Kramer et al. 2004, Venta et al. 2000 |
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LINKAGE |
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Dilated Cardiomyopathy |
|
Doberman Pinscher |
|
linkage to DES |
Stabej et al. 2004 |
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Renal Dysplasia |
|
Lhasa Apso, Soft-coated Wheaten Terrier, Shih Tzu |
linkage |
Brewer unpublished |
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ONLINE CATALOGS OF DISEASES |
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Inherited Diseases in Dogs - Searchable
Database at Cambridge |
http://www.vet.cam.ac.uk/idid |
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Online Mendelian Inheritance in Animals (OMIA) |
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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=omia |
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Diagnostic Labs |
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HealthGene, Toronto, Canada |
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http://www.HealthGene.com |
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VitaTech, Toronto, Canada |
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http://www.vita-tech.com/home.cfm |
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PennGen, U Pennsylvania |
|
http://w3.vet.upenn.edu/research/centers/penngen/services/deublerlab/index.html |
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VetGen, Michigan |
|
http://www.vetgen.com |
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Optigen, New York |
|
http://www.optigen.com/ |
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French Labrador Myopathy Project |
|
http://www.labradorcnm.com/ |
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Veterinary Diagnostic Center, Ohio |
|
http://www.vetdnacenter.com/ |
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http://www.vgl.ucdavis.edu/ |
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Note that 2008 France means presented at
http://www.canine-felinegenomicsmeeting.com/saint-malo.htm but not published
yet probably |
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