Clinical signs become apparent later in life and can be as late as 9 years of age. Clinical signs include dark-red urine and erythrodontia (tooth discoloration) with pink/red fluorescence under ultraviolet light.
Porphyrin accumulation in teeth, bones and other tissues.
UROS and XM_003994514.4:c.140C>T (Domestic Short Hair)
UROS and XM_003994514.4:c.331G>A (Domestic Short Hair)
Explanation of Results
|2-2 (Homozygous Disease Variant)
||Homozygous Affecteds (2-2) are expected to develop signs consistent with Porphyria (CEP) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
||Heterozygous Carriers (1-2) are not expected to develop signs of Porphyria (CEP) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
|1-1 (Homozygous Normal)
||Healthy (Normal, Clear)
||Homozygous Normals (1-1) are not expected to develop signs of Porphyria (CEP) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.
Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med. 2010 Sep-Oct;16(9-10):381-8. doi: 10.2119/molmed.2010.00038. Epub 2010 May 12. PMID: 20485863; PMCID: PMC2935953.