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H997

Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs.

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Spesifikasjoner

Breeds

Gene

Chromosome

18

Mutation

c.3120delC

Mode of Inheritance

Automatisk resessiv

Organ

Specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Also known as

DAMS

Generell informasjon

Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs. The disorder causes muscle atrophy, anaemia, heart defects, and may result in the death of affected puppies. It is caused by a recessive mutation to the gene EHBP1L1, and is found in the English Springer Spaniel. A closely related variant of the disorder occurs in the Labrador Retriever.

Kliniske egenskaper

Affected puppies may die at or around birth. Surviving affected dogs have stunted growth compared to healthy littermates, with less musculature, exercise intolerance and general weakness. Further symptoms can include vomiting, difficulty eating or drinking, chronic diarrhoea, and seizures. Euthanasia may be necessary due to poor quality of life.

Tilleggsinformasjon

Referanser

Pubmed ID: 36140701

Year published: 2022

Omia ID: 2564

Omia variant ID:

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