Merck Manual

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Congenital Disorders with a Known Molecular Basis

Congenital Disorders with a Known Molecular Basis

Species

Disorder

Cat

Gangliosidosis (GM1, GM2)

Mucopolysaccharidosis (I, VI, VII)

Muscular dystrophy (Duchenne, Becker)

α-Mannosidosis

Dog

C3 deficiency

α-Fucosidosis

Glycogen storage disease (I, VII)

Hemophilia B

Krabbe disease

Leukocyte adhesion deficiency

Mucopolysaccharidosis (I, VII)

Muscular dystrophy (Becker, Duchenne [X-linked])

Myotonia

Narcolepsy

Nephritis, X-linked

Pyruvate kinase deficiency of RBCs

Rod-cone dysplasia

Severe combined immunodeficiency

Tremor, X-linked

von Willebrand disease III

Cattle

Arthrogryposis multiplex (Angus, Angus-influenced breeds)

Brachyspina syndrome (Holstein)

Chédiak-Higashi syndrome

Complex vertebral malformation (Holstein)

Citrullinemia

Deficiency of uridine monophosphate synthetase (Holstein)

Ehlers-Danlos syndrome (II, V)

Glycogen storage disease

Goiter, familial (Holstein)

Leukocyte adhesion deficiency

α-Mannosidosis

β-Mannosidosis

Maple syrup urine disease

Muscular hypertrophy (Shorthorn, Maine-Anjou)

Pulmonary hypoplasia with anasarca (Shorthorn)

Progressive degenerative myeloencephalopathy (Brown Swiss)

Protoporphyria

Spinal muscular atrophy (Brown Swiss)

Syndactyly (Holstein, Angus)

Tibial hemimelia (Shorthorn, Maine-Anjou)

Sheep

Ceroid lipofuscinosis

Chondrodysplasia

Glycogen storage disease IV

Goat

Goiter, familial

β-Mannosidosis

Mucopolysaccharidosis III

Reduced casein concentration

Polled intersex syndrome

Horse

Hyperkalemic periodic paralysis (Quarter horse, Paint, others)

Megacolon

Severe combined immunodeficiency (Arabians)

Pig

Hypercholesterolemia

Malignant hyperthermia