KEGG   DISEASE: Erythropoietic porphyria
Entry
H00201                      Disease                                

Name
Erythropoietic porphyria
  Subgroup
Erythropoietic protoporphyria (EPP)
Congenital erythropoietic porphyria (CEP)
Gunther Disease
Hepatoerythropoietic porphyria (HEP)
  Supergrp
Porphyria [DS:H01763]
Description
Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most frequent, congenital erythropoietic porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of cofactor/vitamin metabolism
   H00201  Erythropoietic porphyria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C58  Inborn errors of porphyrin or heme metabolism
     H00201  Erythropoietic porphyria
Related
pathway
hsa00860  Porphyrin and chlorophyll metabolism
hsa01240  Biosynthesis of cofactors
Network
  Element
N00602  FECH deficiency in heme biosynthesis
N00605  UROD deficiency in heme biosynthesis
N00606  UROS deficiency in heme biosynthesis
Gene
(EPP) FECH [HSA:2235] [KO:K01772]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP) UROD [HSA:7389] [KO:K01599]
Drug
Afamelanotide acetate [DR:D11334]
Other DBs
ICD-11: 5C58.12
ICD-10: E80.0
MeSH: D017092
OMIM: 177000 263700 176100
Reference
  Authors
Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H
  Title
Erythropoietic porphyrias: animal models and update in gene-based therapies.
  Journal
Curr Gene Ther 8:176-86 (2008)
DOI:10.2174/156652308784746477
Reference
  Authors
Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC
  Title
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
  Journal
Am J Hum Genet 78:2-14 (2006)
DOI:10.1086/498620
Reference
  Authors
Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S
  Title
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
  Journal
Hum Mol Genet 14:327-34 (2005)
DOI:10.1093/hmg/ddi029
Reference
  Authors
Gross U, Hoffmann GF, Doss MO
  Title
Erythropoietic and hepatic porphyrias.
  Journal
J Inherit Metab Dis 23:641-61 (2000)
DOI:10.1023/A:1005645624262
Reference
PMID:8829650
  Authors
Xu W, Astrin KH, Desnick RJ
  Title
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
  Journal
Reference
  Authors
To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H
  Title
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
  Journal
Blood 118:1443-51 (2011)
DOI:10.1182/blood-2011-03-342873
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