Protoporphyria, Erythropoietic, 1 (EPP1)

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OMIM 57 177000 Disease Ontology 12 DOID:13270 ICD10 33 E80.0 MeSH 44 D046351 NCIt 50 C84698 SNOMED-CT 68 51022005 Orphanet 59 ORPHA79278

ICD10 via Orphanet 34 E80.0 MESH via Orphanet 45 D046351 UMLS via Orphanet 74 C0162568 MedGen 42 C0162568 C0349426 SNOMED-CT via HPO 69 263681008 258211005 281104002 43116000 20741006 267038008 423666004 79654002 279333002 418290006 418363000 424492005 90128006 266474003 19943007 59927004 75183008 77981007 61261009 234349007 20255002 238810007 247441003 271811009 444827008 70819003 86735004 more UMLS 73 C0162568

NIH Rare Diseases : ⁵³ Erythropoietic protoporphyria (EPP) is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by pathogenic variants (mutations) in the FECH gene which lead to an impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen. Inheritance is autosomal recessive.  Treatment includes avoiding sun and UV light exposure, vitamin D supplements, creams for tanning, and using protective clothing. A medication known as Afamelanotide (Scenesse®), a synthetic α-melanocyte stimulating hormone (a melanocyte is a  skin cell that produces melanin, a  skin-darkening pigment) analog was approved for treatment of EPP by the European Medicines Agency in 2014 and is awaiting approval in United States by the FDA. This medication increases pain-free sun exposure and has improved quality of life in those with EPP. Liver complications may be treated with cholestyramine and other porphyrin absorbents , plasmapheresis,  a procedure where the liquid part of the blood, or plasma, is separated from the blood cells, and intravenous heme are sometimes beneficial. Liver transplantation may be required. Another type of porphyria, known as X-linked protoporphyria, is caused by a variation in  the ALAS2 gene and have similar symptoms to erythropoietic protoporphyria when males are affected by EPP.

MalaCards based summary : Protoporphyria, Erythropoietic, 1, also known as erythropoietic protoporphyria, is related to porphyria and x-linked protoporphyria, and has symptoms including edema, pruritus and burning sensation. An important gene associated with Protoporphyria, Erythropoietic, 1 is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. Affiliated tissues include liver, skin and bone, and related phenotypes are decreased liver function and edema

Disease Ontology : ¹² An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

OMIM : ⁵⁷ Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). (177000)

UniProtKB/Swiss-Prot : ⁷⁵ Protoporphyria, erythropoietic, 1: An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.

Wikipedia : ⁷⁶ Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very... more...

Clinical features from OMIM:

177000

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