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Dog breeds - Common genetic disorders

Dog breeds - Common genetic disorders
Inherited blood disorders Inherited cardiovascular disorders
Inherited endocrine disorders Inherited eye disorders Inherited gastrointestinal disorders Inherited immune disorders Inherited musculoskeletal disorders Inherited nervous system disorders
Inherited respiratory disorders Inherited skin disorders
Inherited disorders of the urinary and reproductive systems

INHERITED BLOOD DISORDERS

Autoimmune hemolytic anemia

Basset hound thrombopathia (a disorder of platelets)

Coagulation (bleeding) disorders

Cyclic hematopoiesis

Hemophilia

Histiocytoma

Histiocytosis

Immune-mediated thrombocytopenia

Lymphedema

Phosphofructokinase (PFK) deficiency - (anemia)

Pyruvate kinase (PK) deficiency (anemia)

Rare red blood cell abnormalities

Thrombasthenic thrombopathia (a disorder of platelets)

Von Willebrand’s disease

INHERITED CARDIOVASCULAR DISORDERS

Aortic Stenosis

Atrial Septal Defect

Cardiomyopathy

Mitral Valve Dysplasia

Patent Ductus Arteriosus

Vascular Ring Anomaly

Portosystemic Shunt

Pulmonic Stenosis

Sick Sinus Syndrome

Tetralogy of Fallot

Tricuspid Dysplasia

Ventricular Septal Defect

INHERITED ENDOCRINE DISORDERS

Organs and structures of the endocrine system produce substances (hormones) that exert specific effects on other organs or parts of the body.

Diabetes mellitus

Growth-hormone responsive and adrenal sex-hormone dermatoses

Hyperadrenocorticism (Cushing’s syndrome)

Hypoadrenocorticism (Addison’s disease)

Hypothyroidism

Juvenile hyperparathyroidism

Pituitary dwarfism (Hypopituitarism)

INHERITED DISORDERS OF THE EYE

There is a great deal of interest in inherited eye disorders in dogs on the part of veterinarians, breeders, and breed groups. The Genetics Committee of the American College of Veterinary Ophthalmologists (ACVO) is engaged in ongoing efforts to update information on eye disorders proven or suspected to be inherited in purebred dogs. Members of the ACVO (board-certified veterinary ophthalmologists) perform the eye examinations on which certification for the following registries is based.

The Canine Eye Registration Foundation http://www.prodogs.com//chn/cerf/ maintains a registry of purebred dogs who have been examined and certified annually. The Institute for Genetic Disease Control in Animals http://www.vetmed.ucdavis.edu/gdc/gdc.html maintains an open registry of inherited eye diseases for all breeds.

A few eye disorders can be diagnosed by DNA testing in some breeds, and these are mentioned on the appropriate pages below. Also see OptiGen http://www.optigen.com/ and VetGen http://www.vetgen.com/

Note: In August 2002, GDC merged its database with OFA, and will close all its registries except the Eye and Tumor Registries. GDC will continue to provide information and resources to help breeders use shared health information to make good breeding decisions. Article on the GDC/OFA merge

To reduce the incidence of inherited eye disorders in dogs,

i) practicing veterinarians are encouraged to inform owners of animals with potential for breeding of the value and availability of eye examinations, and to inform the ACVO Genetics Committee of suspicious eye conditions found in litters or individuals;

ii) individual breeders are encouraged to obtain annual eye examinations for inherited disorders in their breeding animals, and to use the eye registries;

iii) local breed clubs can contribute by organizing eye examination and information clinics;

iv) national and international breed clubs are urged to show leadership in this area as many are already doing, by working with breed registries, by encouraging examination and registration of breeding animals, and by disseminating information about, and providing guidance for breeding decisions for eye disorders found in their breeds.

Following are the most important inherited eye disorders in dogs. Please click below to learn about them.

Cataracts

Collie eye anomaly

Corneal dystrophy

Dermoids

Ectropion

Entropion

Exposure keratopathy syndrome - Exophthalmos, lagophthalmos, and/or macroblepharon

Eyelash abnormalities - ectopic cilia, distichiasis, trichiasis

Glaucoma

Imperforate lacrimal punctum

Keratoconjunctivitis sicca (KCS) -”dryeye”

Lens luxation

Microphthalmia - ocular dysgenesis

Optic nerve hypoplasia and micropapilla

Pannus - chronic superficial keratitis

Persistent pupillary membranes

Progressive retinal atrophy

Retinal dysplasia

Third eyelid (nictitating membrane) abnormalities - “cherry eye”

INHERITED GASTROINTESTINAL DISORDERS

Although breed predispositions are recognized for many gastrointestinal disorders, in most cases the scientific studies to establish the inheritance have not been carried out.

Listed below are the most important GI conditions that are believed to have an inherited component.

Chronic hepatitis

Cleft lip/palate

Copper-associated hepatitis

Copper toxicosis in Bedlington terriers

Exocrine pancreatic insufficiency

Gastric dilatation-volvulus (bloat)

Gluten (wheat)-sensitive enteropathy

Histiocytic ulcerative colitis

Hyperlipoproteinemia

Immunoproliferative (Basenji) enteropathy /lymphocytic-plasmacytic enteritis

Intestinal lymphangiectasia

Megaesophagus

Pancreatitis

Perianal fistula

Portosystemic shunt

Protein-losing enteropathy

Protein-losing enteropathy and nephropathy (soft-coated Wheaten terrier)

Pyloric stenosis

Small intestinal bacterial overgrowth (SIBO)

INHERITED DISORDERS OF THE IMMUNE SYSTEM

These disorders are generally a result of either deficiency or hyperactivity of the immune system.

Listed below are the most important immunologic conditions that are believed to have an inherited component.

Atopy

Autoimmune hemolytic anemia

Bullous pemphigoid

Complement deficiency

Cyclic hematopoiesis

German shepherd pyoderma

Immune-mediated thrombocytopenia

Lupus erythematosus (systemic, cutaneous/discoid)

Pemphigus

Selective IgA deficiency

Severe combined immunodeficiency

Weimaraner immunodeficiency

INHERITED MUSCULOSKELETAL DISORDERS

Disorders of the musculoskeletal system are among the most studied conditions in veterinary medicine, since many dogs are prone to develop inherited problems of bones and joints. Registries are maintained to evaluate and record such problems in dogs, so that breeders may choose dogs free of these conditions (as much as possible) for breeding programmes. The Orthopedic Foundation for Animals (OFA) and Institute for Genetic Disease Control in Animals (GDC) maintain registries and information databases on orthopedic and other conditions known to be inherited in certain breeds. More information is available at www.offa.org and www.vetmed.ucdavis.edu/gdc/gdc.html

Note: In August, 2002, GDC will merge its database with OFA, and will close all its registries except the Eye and Tumor Registries. GDC will continue to provide information and resources to help breeders use shared health information to make good breeding decisions. Article on the GDC/OFA merge

Listed below are the most important musculoskeletal conditions that are believed to have an inherited component.

Cervical vertebral instability (Wobbler syndrome)

Craniomandibular ostopathy - “lion jaw”

Elbow dysplasia - OCD, osteochondrosis of humeral condyle, fragmented medial coronoid process, ununited anconeal process, incongruent elbow

Hemivertebra

Hereditary myopathy - Labrador retriever myopathy, Bouvier des Flandres myopathy

Hip dysplasia

Intervertebral disk disease

Legg-Calvé-Perthes disease

Masticatory myositis - eosinophilic myositis

Myotonia

Odontoid process dysplasia

Osteochondrodysplasia - skeletal dwarfism

Panosteitis

Patellar luxation

X-linked muscular dystrophy

INHERITED NERVOUS SYSTEM DISORDERS

Many nervous system disorders affect both dogs and people. For this reason there tends be more information available about these diseases, than about some of the other, more common, inherited disorders in dogs.

There is some overlap with disorders of the musculoskeletal system. These diseases may also be called metabolic disorders.

Cerebellar abiotrophy (ataxia)

Cerebellar hypoplasia

Cervical vertebral instability (Wobbler syndrome)

Congenital deafness and vestibular disease

Deafness

Degenerative myelopathy

Globoid cell leukodystrophy

Hypo-/dysmyelinogenesis (”shaking pup”)

Hydrocephalus

Idiopathic epilepsy

Laryngeal paralysis

Leukodystrophies Rottweiler leukoencephalomyelopathy, Dalmatian leukodystrophy, miniature poodle demyelinating myelopathy, hereditary ataxia, hound ataxia, Labrador retriever central axonopathy, Afghan myelomalacia, spongiform leukodystrophy, fibrinoid leukodystrophy

Lissencephaly

Lysosomal storage diseases ceroid lipofuscinosis, fucosidosis, glucocerebrosidosis, glycogen storage disease type III, GM1 gangliosidosis, GM2 gangliosidosis, mucopolysaccharidosis I, sphingomyelinosis

Meningitis Beagle pain syndrome, Bernese mountain dog aseptic meningitis, pug meningoencephalitis

Myasthenia gravis

Myelodysplasia (spinal dysraphism)

Neuroaxonal dystrophy

Peripheral neuropathies Dancing Doberman disease, Rottweiler distal polyneuropathy, giant axonal neuropathy, idiopathic polyneuropathy (Alaskan malamute), hypertrophic neuropathy, boxer progressive axonopathy, sensory neuropathy, laryngeal paralysis -polyneuropathy complex (dalmatian) Megaesophagus is a common complication in several breeds.

Shaker dog syndrome

Scotty cramp

Spina bifida

Spinal muscular atrophy / motor neuron diseases Spinal muscular atrophy (Brittany spaniel), focal spinal muscular atrophy (German shepherd), hereditary progressive spinal muscular atrophy (English pointer), motor neuron disease (rottweiler), multisystemic chromatolytic neuronal degeneration (Cairn terrier)

Vertebral stenosis (associated with cauda equina syndrome)

INHERITED DISORDERS OF THE RESPIRATORY SYSTEM

Brachycephalic syndrome

Hypoplastic trachea

Laryngeal paralysis

Tracheal collapse

INHERITED SKIN DISORDERS

Almost all skin disorders, except for those that are infectious, are more common in certain breeds than others. Common sense suggests that these disorders are inherited but in general, scientific studies have not been done to establish the mode of inheritance or the frequency in the breed. Some conditions have become so common in certain breeds as to be accepted as normal for the breed (eg. acanthosis nigricans in the dachshund).

Listed below are the most important skin conditions that are believed to have an inherited component.

Acanthosis nigricans

Acral lick dermatitis/granuloma

Acral mutilation syndrome

Atopy / allergic inhalant dermatitis

Bullous pemphigoid

Canine acne

Colour dilution alopecia

Congenital hypotrichosis

Cutaneous asthenia (Ehlers-Danlos syndrome)

Cutaneous mucinosis

Dalmatian bronzing syndrome

Demodicosis/Demodectic mange

Dermatomyositis and ulcerative dermatosis

Dermoid sinus

Ectodermal defect

Epidermal dysplasia

Epidermolysis bullosa

Follicular dysplasias (also black hair follicular dysplasia)

Fold dermatitis/pyoderma

Footpad disorder in the German shepherd

German shepherd pyoderma

Growth hormone responsive dermatosis

Ichthyosis

Lethal acrodermatitis

Lupus erythematosus

Lymphedema

Lupoid dermatosis

Malassezia dermatitis/otitis

Nodular dermatofibrosis (nevi) and renal cystadenocarcinoma

Pattern baldness

Pemphigus

Perianal fistula

Psoriasiform-lichenoid dermatosis

Schnauzer comedo syndrome

Sebaceous adenitis

Seborrhea

Vitamin A-responsive dermatosis

Vitiligo

Zinc-responsive dermatosis

INHERITED DISORDERS OF THE URINARY AND REPRODUCTIVE SYSTEMS

Cryptorchidism

Disorders of sexual development - sexual reversal

Familial kidney disease - hereditary nephritis/nephropathy, renal dysplasia, renal amyloidosis

Fanconi syndrome

Nodular dermatofibrosis and renal cystadenocarcinoma

Urolithiasis (stones)

Canine Inherited Disorders Database. Copyright © 1998 All rights reserved. Revised: October 29, 2001 - Reprinted at HandicappedPets.com with Permission.