Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Congenital erythropoietic porphyria
Congenital erythropoietic porphyria (CEP)
Disease Category: Porphyrias
A rare, inherited, metabolic disorder characterized by deficiency of the enzyme uroporphyrinogen III synthase (UROS), which allows for build-up of porphyrins in bones, bone marrow, plasma, red blood cells, urine, and teeth. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. The hallmark symptom is photosensitivity (hyperreactivity to light) of the skin, resulting in bullae (sac-like skin lesions) which may become infected, scar, and/or develop discoloration. Other symptoms include bone loss due to infection, brownish-colored teeth, increased hair growth, anemia (low red blood cells), splenomegaly (enlarged spleen), eye problems, and deformities.