KEGG DISEASE: Erythropoietic porphyria

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

Inherited metabolic disorder

Brite

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

Pathway

Porphyrin metabolism

Biosynthesis of cofactors

Gene

(EPP1) FECH [HSA:2235] [KO:K01772]
(EPP2) CLPX [HSA:10845] [KO:K03544]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP) UROD [HSA:7389] [KO:K01599]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]

Drug

Afamelanotide acetate [DR:D11334]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

177000 618015 263700 176100 300752

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

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:16385445 (EPP1)

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

PMID:15574461 (EPP1)

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

PMID:28874591 (EPP2)

Authors

Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH

Title

Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.

Journal

Proc Natl Acad Sci U S A 114:E8045-E8052 (2017)
DOI:10.1073/pnas.1700632114

Reference

PMID:8829650 (CEP)

Authors

Xu W, Astrin KH, Desnick RJ

Title

Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.

Journal

Hum Mutat 7:187-92 (1996)
DOI:10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8

Reference

PMID:2920211 (HEP)

Authors

Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP

Title

A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.

Journal

Blood 73:892-5 (1989)
DOI:10.1182/blood.V73.4.892.892

Reference

PMID:21653323 (XLDPP)

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

Reference

PMID:18760763 (XLDPP)

Authors

Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H

Title

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Journal

Am J Hum Genet 83:408-14 (2008)
DOI:10.1016/j.ajhg.2008.08.003

LinkDB

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