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Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats.
Cats with autosomal dominant AIP presented with erythrodontia, yellow-brown urine and mild changes in erythrocytes.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Variant Detected:
deletion (c.107_110delACAG) and splicing alteration (c.826-1G>A)
Mode of Inheritance:
Recomended Screening:
Research Citation(s):