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Hereditary Methemoglobinemia, Variant 1

Description

Hereditary Methemoglobinemia, Variant 1 affects dogs and is a genetic disease where the dogs blood contains too much methemoglobin and therefore the ability for oxygen to be delivered to tissues becomes impaired.

Symptoms can include exercise intolerance, fatigue, shortness of breath, purplish discolouration of the gums and skin (cyanosis).

Recommended Breeding

Diseases

Hereditary Methemoglobinemia, Variant 1

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Associated Breed(s):

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Labels:

Category:

Haemolymphatic - Associated with the blood and lymph

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

CYB5R3

Variant Detected:

missense variant in the CYB5R3 gene, Ile194Leu substitution

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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