Porphyria (AIP-Autosomal Dominant)

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Related Terms: Acute Intermittent Porphyria, HMBS

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

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Highly variable (4 months to 8 years have been observed)

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Cost: $150.00

Species and Breeds
Feline - Domestic Short Hair
Feline - Siamese

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The age at which clinical signs become apparent varies substantially — 4 months to 8 years of age have been observed. Clinical signs include yellow-brown urine, erythrodontia (tooth discoloration), and porphyrinuria.

Normal

Autosomal dominant

Porphyrin accumulation in teeth, bones and other tissues.

HMBS and NM_001177808.1:c.107_110delACAG (Domestic Short Hair) HMBS and NM_001177808.1:c.826-1G>A (Domestic Short Hair) HMBS and NM_001177808.1:c.445C>T (Domestic Short Hair) HMBS and NM_001177808.1:c.189dupT (Siamese) HMBS and NM_001177808.1:c.842_844delGAG (Siamese)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Porphyria (AIP-Autosomal Dominant) and all of their offspring will also be unhealthy (affected) by inheriting 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.
1-2 (Heterozygous) Unhealthy (Affected) Heterozygous Affecteds (1-2) are expected to develop signs consistent with Porphyria (AIP-Autosomal Dominant) and each of their offspring has a chance of being unhealthy (affected) by inheriting 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.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Porphyria (AIP-Autosomal Dominant) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10. PMID: 24239138; PMCID: PMC3963809. Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24. PMID: 19934113; PMCID: PMC2807367.