Other DNA-diseases
List of diseases we have tested Tibetan Terriers for with the results N/N (clear).
| Gene | Title |
|---|---|
| Amelogenesis Imperfecta | |
| Hypophosphatemia | |
| Spongy Degeneration with Cerebellar Ataxia | |
| Spongy Degeneration with Cerebellar Ataxia (Discovered in Belgian Malinois) | |
| ABCA4 | Stargardt Disease (Discovered in the Labrador Retriever) |
| ADAMTS20 | Cleft Lip & Palate with Syndactyly |
| ADAMTSL2 | Musladin-Lueke Syndrome |
| AGL | Glycogen Storage Disease Type IIIa, (GSD IIIa) |
| AMHR2 | Persistent Müllerian Duct Syndrome |
| ANLN | Acute Respiratory Distress Syndrome |
| ANO6 | Canine Scott Syndrome |
| APRT | 2,8-dihydroxyadenine (DHA) Urolithiasis |
| ATF2 | Neonatal Encephalopathy with Seizures |
| ATG4D | Lagotto Storage Disease |
| BEST1 | Canine Multifocal Retinopathy 1, 2, 3 |
| BIN1 | Centronuclear Myopathy (Discovered in the Great Dane) |
| C3 | Complement 3 Deficiency |
| CAPN1 | Spinocerebellar Ataxia (Late-Onset Ataxia) |
| CAT | Hypocatalasia |
| CCDC39 | Primary Ciliary Dyskinesia |
| CCDC66 | Early-onset PRA (Discovered in the Portuguese Water Dog) |
| CCDC66 | Generalized Progressive Retinal Atrophy (Discovered in the Schapendoes) |
| CHAT | Congenital Myasthenic Syndrome (Discovered in the Old Danish Pointing Dog) |
| CHRNE | Congenital Myasthenic Syndrome (Discovered in the Jack Russell Terrier) |
| CLCN1 | Myotonia Congenita |
| CLCN1 | Myotonia Congenita (Discovered in the Labrador Retriever) |
| CLCN1 | Myotonia Congenita (Discovered in the Miniature Schnauzer) |
| CLN8 | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke) |
| CLN8 | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Australian Shepherd) |
| CLN8 | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the English Setter) |
| CLN8 | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Saluki) |
| CNGA1 | Progressive Retinal Atrophy (Discovered in the Shetland Sheepdog - CNGA1 variant) |
| CNGA3 | Cone Degeneration (Discovered in the German Shepherd Dog) |
| CNGB1 | Progressive Retinal Atrophy (Discovered in the Papillon and Phalène) |
| CNGB3 | Cone Degeneration (Discovered in the Alaskan Malamute) |
| CNGB3 | Cone Degeneration (Discovered in the German Shorthaired Pointer) |
| COL1A2 | Osteogenesis Imperfecta (Discovered in the Beagle) |
| COL4A5 | X-Linked Hereditary Nephropathy (Discovered in the Navasota Dog) |
| COL4A5 | X-Linked Hereditary Nephropathy (Discovered in the Samoyed) |
| COL6A1 | Muscular Dystrophy (Discovered in the Landseer) |
| COL7A1 | Dystrophic Epidermolysis Bullosa (Discovered in the Central Asian Ovcharka) |
| COL7A1 | Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever) |
| CUBN | Intestinal Cobalamin Malabsorption (Discovered in the Beagle) |
| CUBN | Intestinal Cobalamin Malabsorption (Discovered in the Border Collie) |
| CUBN | Intestinal Cobalamin Malabsorption (Discovered in the Komondor) |
| DIRAS1 | Juvenile Myoclonic Epilepsy |
| DLX6 | Cleft Palate |
| DNM1 | Exercise-Induced Collapse |
| EDA | X-Linked Ectodermal Dysplasia |
| ENAM | Enamel Hypoplasia (Discovered in the Parson Russell Terrier) |
| EXT2 | Osteochondromatosis (Discovered in the American Staffordshire Terrier) |
| F7 | Factor VII Deficiency |
| FAM20C | Dental Hypomineralization |
| FAM83G | Hereditary Footpad Hyperkeratosis |
| FAM134B | Sensory Neuropathy |
| FAN1 | Fanconi Syndrome |
| FGF4-18 | Chondrodysplasia (CDPA) |
| FERMT3 | Canine Leukocyte Adhesion Deficiency (CLAD), type III |
| FLCN | Renal Cystadenocarcinoma and Nodular Dermatofibrosis |
| FNIP2 | Hypomyelination |
| FVIII | Hemophilia A (Discovered in Old English Sheepdog) |
| FVIII | Hemophilia A (Discovered in the Boxer) |
| FVIII | Hemophilia A (Discovered in the German Shepherd Dog - Variant 1) |
| FVIII | Hemophilia A (Discovered in the German Shepherd Dog - Variant 2) |
| FVIII | Hemophilia A (Discovered in the Havanese) |
| FIX | Hemophilia B |
| FIX | Hemophilia B (Discovered in the Airedale Terrier) |
| FIX | Hemophilia B (Discovered in the Lhasa Apso) |
| FXI | Factor XI Deficiency |
| GALC | Globoid Cell Leukodystrophy (Discovered in Terriers) |
| GALC | Globoid Cell Leukodystrophy (Discovered in the Irish Setter) |
| GDNF | Acral Mutilation Syndrome |
| GFAP | Alexander Disease |
| GLB1 | GM1 Gangliosidosis (Discovered in the Portuguese Water Dog) |
| GLB1 | GM1 Gangliosidosis (Discovered in the Shiba) |
| GUSB | Mucopolysaccharidosis Type VII (Discovered in the Brazilian Terrier) |
| GUSB | Mucopolysaccharidosis Type VII (Discovered in the German Shepherd Dog) |
| HEXA | GM2 Gangliosidosis (Discovered in the Japanese Chin) |
| HEXB | GM2 Gangliosidosis (Discovered in the Toy Poodle) |
| HES7 | Spondylocostal Dysostosis |
| IBA57 | Hereditary Necrotizing Myelopathy (HNM) |
| IL2/IL21 | Polymyositis (PM) - Kooikerhondje |
| IL2RG | X-Linked Severe Combined Immunodeficiency (Discovered in the Basset Hound) |
| IL2RG | X-Linked Severe Combined Immunodeficiency (Discovered in the Cardigan Welsh Corgi) |
| ITGA10 | Chondrodysplasia |
| ITGA2B | Glanzmann Thrombasthenia Type I |
| ITGA2B | Glanzmann Thrombasthenia Type I (Discovered in Great Pyrenees) |
| KCNIP4 | Hereditary Ataxia (Discovered in the Norwegian Buhund) |
| KCNJ10 | Spinocerebellar Ataxia with Myokymia and/or Seizures |
| KCNQ1 | QT Syndrome |
| KRT10 | Epidermolytic Hyperkeratosis |
| KRT16 | Focal Non-Epidermolytic Palmoplantar Keratoderma |
| L2HGDH | L-2-Hydroxyglutaric Aciduria |
| LAMP3 | Lung Developmental Disease (Discovered in the Airedale Terrier) |
| LGI2 | Benign Familial Juvenile Epilepsy |
| MDR1/ABCB1 | MDR1 Medication Sensitivity |
| MERTK | Progressive Retinal Atrophy (Discovered in the Swedish Vallhund) |
| MFN2 | Fetal Onset Neuroaxonal Dystrophy |
| MFSD8 | Neuronal Ceroid Lipofuscinosis 7 |
| MKLN1 | Lethal Acrodermatitis (Discovered in the Bull Terrier) |
| MOP | Myeloperoxidase Deficiency |
| MSTN | Muscular Hypertrophy (Double Muscling) |
| MTM1 | Myotubular Myopathy |
| MTM1 | X-Linked Myotubular Myopathy |
| MYH9 | May-Hegglin Anomaly |
| NDRG1 | Early-Onset Progressive Polyneuropathy (Discovered in the Alaskan Malamute) |
| NDRG1 | Early-Onset Progressive Polyneuropathy (Discovered in the Greyhound) |
| NEB | Nemaline Myopathy |
| NHEJ1 | Collie Eye Anomaly (CEA) |
| NIPAL4 | Ichthyosis (Discovered in the American Bulldog) |
| NME5 | Primary Ciliary Dyskinesia (Discovered in the Alaskan Malamute) |
| NPHP4 | Cone-Rod Dystrophy |
| NPHS1 | Protein Losing Nephropathy |
| P2RY12 | P2RY12-associated Bleeding Disorder |
| PDE6A | Rod-Cone Dysplasia 3 |
| PDE6B | Cone-Rod Dystrophy 1 |
| PDE6B | Rod-Cone Dysplasia 1 |
| PDE6B | Rod-Cone Dysplasia 1a |
| PDP1 | Pyruvate Dehydrogenase Phosphatase 1 Deficiency |
| PFKM | Phosphofructokinase Deficiency |
| PIGN | Paroxysmal Dyskinesia |
| PKD1 | Polycystic Kidney Disease |
| PKLR | Pyruvate Kinase Deficiency (Discovered in the Basenji) |
| PKLR | Pyruvate Kinase Deficiency (Discovered in the Beagle) |
| PKLR | Pyruvate Kinase Deficiency (Discovered in the Pug) |
| PKLR | Pyruvate Kinase Deficiency (Discovered in the West Highland White Terrier) |
| PLG | Ligneous Membranitis |
| PLP1 | X-Linked Tremors |
| PPT1 | Neuronal Ceroid Lipofuscinosis 1 |
| PRCD | Progressive Rod Cone Degeneration (prcd-PRA) |
| PRKDC | Severe Combined Immunodeficiency |
| PTPLA | Centronuclear Myopathy (Discovered in the Labrador Retriever) |
| PTPRQ | Deafness and Vestibular Dysfunction (Discovered in Doberman Pinscher) |
| RAB24 | Cerebellar Ataxia |
| RAB3GAP1 | Juvenile Laryngeal Paralysis and Polyneuropathy |
| RAG1 | Severe Combined Immunodeficiency (Discovered in Frisian Water Dogs) |
| RBP4 | Microphthalmia (Discovered in the Soft-Coated Wheaten Terrier) |
| RHO | Dominant Progressive Retinal Atrophy |
| RPGR | X-Linked Progressive Retinal Atrophy 1 |
| RPGR | X-Linked Progressive Retinal Atrophy 2 |
| SAG | Progressive Retinal Atrophy (Discovered in the Basenji) |
| SCARF2 | Van den Ende-Gupta Syndrome |
| SEL1L | Progressive Early-Onset Cerebellar Ataxia |
| SERPINH1 | Osteogenesis Imperfecta (Discovered in the Dachshund) |
| SGSH | Mucopolysaccharidosis Type IIIA (Discovered in the Dachshund) |
| SGSH | Mucopolysaccharidosis Type IIIA (Discovered in the New Zealand Huntaway) |
| SLC13A1 | Osteochondrodysplasia |
| SLC19A3 | Alaskan Husky Encephalopathy |
| SLC25A12 | Inflammatory Myopathy (Myositis) |
| SLC27A4 | Ichthyosis (Discovered in the Great Dane) |
| SLC2A9 | Hyperuricosuria |
| SLC37A2 | Craniomandibular Osteopathy |
| SLC3A1 | Cystinuria Type I-A |
| SLC3A1 | Cystinuria Type II-A |
| SLC4A3 | Progressive Retinal Atrophy (Golden Retriever - GR-PRA1 variant) |
| SLC5A5 | Congenital Dyshormonogenic Hypothyroidism with Goiter |
| SLC6A3 | Cerebral Dysfunction |
| SLC6A5 | Hyperekplexia or Startle Disease |
| SNX14 | Cerebellar Cortical Degeneration |
| SPTB | Hereditary Elliptocytosis |
| SPTBN2 | Neonatal Cerebellar Cortical Degeneration |
| SUV39H2 | Hereditary Nasal Parakeratosis |
| TECPR2 | Neuroaxonal Dystrophy |
| TGM1 | Lamellar Ichthyosis |
| TPO | Congenital Hypothyroidism |
| TPO | Congenital Hypothyroidism |
| tRNATyr | Sensory Ataxic Neuropathy |
| TUBB1 | Macrothrombocytopenia |
| VDR | Hereditary Vitamin D-Resistant Rickets Type II |
| VLDLR | Cerebellar Hypoplasia |
| VPS11 | Neuroaxonal Dystrophy |
| VPS13B | Trapped Neutrophil Syndrome |
| VWF | von Willebrand's Disease, type 1 |
| VWF | von Willebrand's Disease, type 2 |
| VWF | von Willebrand's Disease, type 3 (Discovered in the Kooiker Hound) |
| VWF | von Willebrand's Disease, type 3 (Discovered in the Scottish Terrier) |
| VWF | von Willebrand's Disease, type 3 (Discovered in the Shetland Sheepdog) |
| Pending | Dilated Cardiomyopathy (Discovered in the Schnauzer) |
| Pending | Early Adult Onset Deafness For Border Collies only (Linkage test) |
| Pending | Juvenile Encephalopathy (Discovered in the Parson Russell Terrier) |
| Pending | L-2-Hydroxyglutaric Aciduria (Discovered in the Westie) |
| Pending | Progressive Retinal Atrophy (Discovered in the Shetland Sheepdog - BBS2 variant) |
| Pending | Progressive Retinal Atrophy 1 (Discovered in the Italian Greyhound) |
| Pending | Shaking Puppy Syndrome (Discovered in the Border Terrier) |
| Pending | Xanthinuria (Discovered in a mixed breed dog) |
| Pending | Xanthinuria (Discovered in the Cavalier King Charles Spaniel) |
| Pending | Xanthinuria (Discovered in the Toy Manchester Terrier) |
