KEGG   DISEASE: 骨髄性ポルフィリン症
エントリ  
H00201                                                             
名称    
骨髄性ポルフィリン症
  下位グループ
赤血球増殖性プロトポルフィリン症
遺伝性赤芽球性ポルフィリン症
ギュンター病
骨髄肝性ポルフィリン症
  上位グループ
ポルフィリン症 [DS:H01763]
概要    
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.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C58  ポルフィリンまたはヘム代謝の先天性異常
     H00201  骨髄性ポルフィリン症
パスウェイ 
hsa00860  Porphyrin metabolism
hsa01240  Biosynthesis of cofactors
病因遺伝子 
(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]
リンク   
ICD-11: 5C58.12
MeSH: D017092
OMIM: 177000 618015 263700 176100 300752
文献    
PMID:18537592
  著者
Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H
  タイトル
Erythropoietic porphyrias: animal models and update in gene-based therapies.
  雑誌
Curr Gene Ther 8:176-86 (2008)
DOI:10.2174/156652308784746477
文献    
PMID:11117426
  著者
Gross U, Hoffmann GF, Doss MO
  タイトル
Erythropoietic and hepatic porphyrias.
  雑誌
J Inherit Metab Dis 23:641-61 (2000)
DOI:10.1023/A:1005645624262
文献    
PMID:16385445 (EPP1)
  著者
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
  タイトル
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
  雑誌
Am J Hum Genet 78:2-14 (2006)
DOI:10.1086/498620
文献    
PMID:15574461 (EPP1)
  著者
Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S
  タイトル
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
  雑誌
Hum Mol Genet 14:327-34 (2005)
DOI:10.1093/hmg/ddi029
文献    
PMID:28874591 (EPP2)
  著者
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
  タイトル
Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
  雑誌
Proc Natl Acad Sci U S A 114:E8045-E8052 (2017)
DOI:10.1073/pnas.1700632114
文献    
PMID:8829650 (CEP)
  著者
Xu W, Astrin KH, Desnick RJ
  タイトル
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
  雑誌
Hum Mutat 7:187-92 (1996)
DOI:10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8
文献    
PMID:2920211 (HEP)
  著者
Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP
  タイトル
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
  雑誌
Blood 73:892-5 (1989)
DOI:10.1182/blood.V73.4.892.892
文献    
PMID:21653323 (XLDPP)
  著者
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
  タイトル
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
  雑誌
Blood 118:1443-51 (2011)
DOI:10.1182/blood-2011-03-342873
文献    
PMID:18760763 (XLDPP)
  著者
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
  タイトル
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
  雑誌
Am J Hum Genet 83:408-14 (2008)
DOI:10.1016/j.ajhg.2008.08.003
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