Erythropoietic porphyria
Erythropoietic porphyria – S47F
General description
A genetic variant in the UROS gene was found in a cat; when combined with another variant, it is associated with erythropoietic porphyria. This is a disorder of heme synthesis in which porphyrins are deposited in the skin, tissues, and bones. This can cause a brownish discoloration, as well as blistering and inflammation of the skin. Because porphyrins are excreted in the urine, the urine may also appear brown. The affected cat primarily exhibited brownish discoloration of the teeth, which fluoresced reddish-pink under UV light (erythrodontia).
Breeds
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Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | probably autosomal recessive |
| Gen | UROS |
| Mutation | C-T |
| References | OMIA:001081-9685 |
Erythropoietic porphyria – G111S
General description
A genetic variant in the UROS gene was found in a cat; when combined with another variant, it is associated with erythropoietic porphyria. This is a disorder of heme synthesis in which porphyrins are deposited in the skin, tissues, and bones. This can cause a brownish discoloration, as well as blistering and inflammation of the skin. Because porphyrins are excreted in the urine, the urine may also take on a brown color. The affected cat primarily exhibited brownish discoloration of the teeth, which fluoresced reddish-pink under UV light (erythrodontia).
Breeds
–
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | probably autosomal recessive |
| Gen | UROS |
| Mutation | G-A |
| References | OMIA:001081-9685 |
