GTR Home > Conditions/Phenotypes > Congenital erythropoietic porphyria

Summary

Excerpted from the GeneReview: Congenital Erythropoietic Porphyria
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink to dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and mild bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from non-immune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.

Available tests

23 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: UROIIIS, UROS
    Summary: uroporphyrinogen III synthase

Clinical features

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