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EPP1
MCID: PRT132
MIFTS: 58
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Protoporphyria, Erythropoietic, 1 (EPP1)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Protoporphyria, Erythropoietic, 1:
Characteristics:Orphanet epidemiological data:60
autosomal erythropoietic protoporphyria
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset usually before age 10 years compound heterozygosity common can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation that is prevalent in some populations HPO:33
protoporphyria, erythropoietic, 1:
Onset and clinical course childhood onset Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases Skin diseases
ICD10:
34
35
External Ids:
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NIH Rare Diseases
:
54
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 x-linked protoporphyria and porphyria, congenital erythropoietic. An important gene associated with Protoporphyria, Erythropoietic, 1 is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Colestipol and Afamelanotide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are pruritus and erythema 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 : 58 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 : 76 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 : 77 Erythropoietic protoporphyria is a form of porphyria, which varies in severity and can be very painful. ... more... |
Human phenotypes related to Protoporphyria, Erythropoietic, 1:60 33 (show all 14)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:177000 |
Drugs for Protoporphyria, Erythropoietic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 26)
Interventional clinical trials:(show all 15)
Cochrane evidence based reviews: protoporphyria, erythropoietic |
MalaCards organs/tissues related to Protoporphyria, Erythropoietic, 1:42
Skin,
Bone,
Liver,
Bone Marrow,
Spleen,
Brain,
Kidney
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Articles related to Protoporphyria, Erythropoietic, 1:(show top 50) (show all 564)
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Genes related to Protoporphyria, Erythropoietic, 1 (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Protoporphyria, Erythropoietic, 1:76 (show all 23)
ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 1:6 (show top 50) (show all 290)
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Pathways related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:
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Cellular components related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:
Biological processes related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:(show all 20)
Molecular functions related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:
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