Wisdom Panelで検査できる犬の遺伝病一覧リスト

ミックス種でのみ確認できる変異一覧（34種）

• Autosomal Recessive Severe Combined Immunodeficiency (ARSCID)
• Dominant Progressive Retinal Atrophy (DPRA)
• Duchenne or Dystrophin Muscular Dystrophy (DMD); mutation originally found in Golden Retriever
• Early Retinal Degeneration (erd); mutation originally found in Norwegian Elkhound
• Factor IX Deficiency or Hemophilia B; mutation originally found in Lhasa Apso
• Factor VIII Deficiency or Hemophilia A; p.Cys548Tyr mutation originally found in German Shepherd
• Glanzmann Thrombasthenia Type I (GT); mutation originally found in Pyrenean Mountain Dog
• Glycogen Storage Disease Type Ia (GSD Ia)
• GM1 Gangliosidosis; mutation originally found in Alaskan Husky
• Hereditary Elliptocytosis
• Hereditary Vitamin D-Resistant Rickets (HVDRR)
• Hyperekplexia or Startle Disease
• Malignant Hyperthermia (MH)
• May-Hegglin Anomaly (MHA)
• Mucopolysaccharidosis Type IIIA (MPS IIIA); mutation originally found in New Zealand Huntaway
• Mucopolysaccharidosis Type VII (MPS VII); mutation originally found in German Shepherd
• Muscular Hypertrophy (Double Muscling)
• Narcolepsy; mutation originally found in Doberman Pinscher
• Narcolepsy; mutation originally found in Labrador Retriever
• Neuronal Ceroid Lipofuscinosis 10 (NCL10); mutation originally found in American Bulldog
• Neuronal Ceroid Lipofuscinosis 5 (NCL5); mutation originally found in Border Collie
• Neuronal Ceroid Lipofuscinosis 8 (NCL8); mutation originally found in Australian Shepherd mix
• Polycystic Kidney Disease in Bull Terriers (BTPKD)
• Pyruvate Kinase Deficiency; mutation originally found in Beagle
• Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND)
• Severe Combined Immunodeficiency in Frisian Water Dogs (SCID)
• Spinal Dysraphism
• Thrombopathia; mutation originally found in Eskimo Spitz
• Thrombopathia; mutation originally found in Landseer
• Von Willebrand's Disease Type 3 (vWD 3); mutation originally found in Shetland Sheepdog
• X-Linked Hereditary Nephropathy (XLHN)
• X-Linked Progressive Retinal Atrophy 1 (XLPRA1)
• X-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Cardigan Welsh Corgi
• X-Linked Tremors; mutation originally found in English Springer Spaniel

純血種でのみ確認できる変異一覧（13種）

• Bandera's Neonatal Ataxia (BNAt)
• Benign Familial Juvenile Epilepsy or Remitting Focal Epilepsy (BFJE)
• Canine Multifocal Retinopathy 3 (CMR3); mutation originally found in Lapponian Herder
• Cleft Palate / Cleft Lip and Palate with Syndactyly; DLX6 gene mutation originally found in Nova Scotia Duck Tolling Retriever
• Congenital Stationary Night Blindness (CSNB)
• Cystinuria Type II-B; mutation originally found in Miniature Pinscher
• Epidermolysis bullosa dystrophic; mutation originally found in Golden Retriever
• Epidermolytic Hyperkeratosis
• Mucopolysaccharidosis Type IIIA (MPS IIIA); mutation originally found in Dachshund
• Mucopolysaccharidosis Type VII (MPS VII); mutation originally found in Brazilian Terrier
• Neuronal Ceroid Lipofuscinosis 8 (NCL8); mutation originally found in English Setter
• Progressive Retinal Atrophy Type III (PRA type III); mutation originally found in Tibetan Spaniel and Tibetan Terrier
• Pyruvate Dehydrogenase Phosphatase 1 (PDP1) Deficiency

ミックスと純血両方で確認できる変異一覧（80種）

• Alaskan Husky Encephalopathy (AHE)
• Amelogenesis Imperfecta (AI)
• Bleeding disorder due to P2RY12 defect
• Canine Cyclic Neutropenia (CN)
• Canine Multifocal Retinopathy 2 (CMR2); mutation originally found in Coton de Tulear
• Centronuclear Myopathy (CNM); mutation originally found in Labrador Retriever
• Chondrodysplasia; mutation originally found in Norwegian Elkhound and Karelian Bear Dog
• Collie Eye Anomaly (CEA)
• Complement 3 (C3) Deficiency
• Cone Degeneration (CD) or Achromatopsia
• Cone Degeneration (CD) or Achromatopsia; mutation originally found in German Shorthaired Pointer
• Cone-Rod Dystrophy 1 (crd1); mutation originally found in American Staffordshire Terrier
• Cone-Rod Dystrophy 2 (crd2); mutation originally found in Pit Bull Terrier
• Cone-Rod Dystrophy (cord1-PRA / crd4)
• Congenital Hypothyroidism; mutation originally found in Toy Fox- and Rat Terrier
• Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID)
• Craniomandibular Osteopathy (CMO)
• Cystinuria Type I-A; mutation originally found in Newfoundland Dog
• Cystinuria Type II-A; mutation originally found in Australian Cattle Dog
• Degenerative Myelopathy (DM)
• Early-Onset Progressive Polyneuropathy; mutation originally found in Alaskan Malamute
• Early-Onset Progressive Polyneuropathy; mutation originally found in Greyhound
• Episodic Falling (EF)
• Exercise-Induced Collapse (EIC)
• Factor VII Deficiency
• Familial Nephropathy (FN); mutation originally found in English Cocker Spaniel
• Globoid Cell Leukodystrophy or Krabbe's Disease (GLD); mutation originally found in Terriers
• Glycogen Storage Disease Type II or Pompe's Disease (GSD II)
• Glycogen Storage Disease Type IIIa (GSD IIIa)
• GM2 Gangliosidosis; mutation originally found in Japanese Chin
• Golden Retriever Ichthyosis
• Golden Retriever Progressive Retinal Atrophy 1 (GR_PRA 1)
• Golden Retriever Progressive Retinal Atrophy 2 (GR_PRA 2)
• Hereditary Ataxia or Cerebellar Ataxia; mutation originally found in Old English Sheepdog and Gordon Setter
• Hereditary Footpad Hyperkeratosis (HFH)
• Hereditary Nasal Parakeratosis (HNPK)
• Hereditary Phosphofructokinase (PFK) Deficiency
• Hyperuricosuria (HUU)
• Hypocatalasia or Acatalasemia
• Hypomyelination; mutation originally found in Weimaraner
• Imerslund-Grasbeck Syndrome (IGS); mutation originally found in Beagle
• Imerslund-Grasbeck Syndrome (IGS); mutation originally found in Border Collie
• L-2-Hydroxyglutaric aciduria (L2HGA); mutation originally found in Staffordshire Bull Terrier
• Lagotto Storage Disease (LSD)
• Lamellar Ichthyosis (LI)
• Macrothrombocytopenia; disease-linked variant originally found in Norfolk and Cairn Terrier
• Multidrug Resistance 1 (MDR1 gene variant)
• Musladin-Lueke syndrome (MLS)
• Myotonia Congenita; mutation originally found in Australian Cattle Dog
• Neonatal Cerebellar Cortical Degeneration or Cerebellar Abiotrophy (NCCD)
• Neonatal Encephalopathy with Seizures (NEWS)
• Neuronal Ceroid Lipofuscinosis 4A (NCL4); mutation originally found in American Staffordshire Terrier
• Oculoskeletal Dysplasia 2 or Dwarfism-Retinal Dysplasia 2 (OSD2)
• Osteochondrodysplasia; mutation originally found in Miniature Poodle
• Osteogenesis Imperfecta (OI); mutation originally found in Dachshund
• Persistent Mullerian Duct Syndrome (PMDS); mutation originally found in Miniature Schnauzer
• Prekallikrein Deficiency
• Primary Ciliary Dyskinesia (PCD)
• Primary Hereditary Cataract (PHC); mutation originally found in Australian Shepherd
• Primary Hereditary Cataract (PHC); mutation originally found in Terriers
• Primary Lens Luxation (PLL)
• Primary Open Angle Glaucoma (POAG); mutation originally found in Beagle
• Primary Open Angle Glaucoma (POAG); mutation originally found in Norwegian Elkhound
• Progressive Retinal Atrophy (PAP1_PRA); mutation originally found in Papillon and Phalene
• Progressive Retinal Atrophy (PRA); mutation originally found in Basenji
• Progressive Rod-Cone Degeneration (PRCD)
• Protein Losing Nephropathy (PLN); NPHS1 gene variant
• Pyruvate Kinase Deficiency; mutation originally found in West Highland White Terrier
• Rod-Cone Dysplasia 1 (rcd1); mutation originally found in Irish Setter
• Rod-Cone Dysplasia 1a (rdc1a); mutation originally found in Sloughi
• Rod-Cone Dysplasia 3 (rcd3)
• Skeletal Dysplasia 2 (SD2)
• Spinocerebellar Ataxia with Myokymia and/or Seizures (SCA)
• Spinocerebellar Ataxia / Late-Onset Ataxia (SCA/LOA)
• Thrombopathia; mutation originally found in Basset Hound
• Trapped Neutrophil Syndrome (TNS)
• Von Willebrand's Disease Type 1 (vWD 1)
• Von Willebrand's Disease Type 2 (vWD 2)
• Von Willebrand's Disease Type 3 (vWD 3); mutation originally found in Scottish Terrier
• X-Linked Myotubular Myopathy

めったにない変異一覧（25種）

• Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD)
• Centronuclear Myopathy (CNM); mutation originally found in Great Dane
• Cone-Rod Dystrophy of Standard Wirehaired Dachshund (crd SWD)
• Congenital Myasthenic Syndrome (CMS); mutation originally found in Old Danish Pointing Dog
• Factor IX Deficiency or Hemophilia B; mutation Gly379Glu
• Factor IX Deficiency or Hemophilia B; mutation originally found in Airedale Terrier
• Factor IX Deficiency or Hemophilia B; mutation originally found in Rhodesian Ridgeback
• Factor VIII Deficiency or Hemophilia A; mutation originally found in Boxer
• Factor VIII Deficiency or Hemophilia A; mutation originally found in German Shepherd Dog
• Familial Nephropathy (FN); mutation originally found in English Springer Spaniel
• Fetal Onset Neuroaxonal Dystrophy (FNAD)
• Generalized Progressive Retinal Atrophy
• Globoid Cell Leukodystrophy or Krabbe's Disease (GLD); mutation originally found in Irish Setter
• GM1 Gangliosidosis; mutation originally found in Portuguese Water Dog
• GM1 Gangliosidosis; mutation originally found in Shiba Dog
• GM2 Gangliosidosis; mutation originally found in Toy Poodle
• Myotonia Congenita; mutation originally found in Miniature Schnauzer
• Narcolepsy; mutation originally found in Dachshund
• Neuronal Ceroid Lipofuscinosis 1 (NCL1); mutation originally found in Dachshund
• Pyruvate Kinase Deficiency; mutation originally found in Basenji
• Pyruvate Kinase Deficiency; mutation originally found in Pug
• Von Willebrand's Disease Type 3 (vWD 3); mutation originally found in Kooikerhondje
• X-Linked Ectodermal Dysplasia (XHED)
• X-Linked Progressive Retinal Atrophy 2 (XLPRA2)
• X-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Basset Hound