KEGG   DISEASE: Porphyria
Entry
H01763                      Disease                                
Name
Porphyria
  Subgroup
Erythropoietic porphyria [DS:H00201]
Hepatic porphyria [DS:H00202]
Description
Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) are produced in excess and accumulate in tissues, resulting in neurological and/or photocutaneous symptoms, and hematological disturbances. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Erythropoietic porphyrias include erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and the very rare hepatoerythropoietic porphyria (HEP). Hepatic porphyrias include ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP) has been reported.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of cofactor/vitamin metabolism
   H01763  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
     H01763  Porphyria
Related
pathway
hsa00860  Porphyrin and chlorophyll metabolism
Network
nt06011  Heme biosynthesis
Gene
(EPP1) FECH [HSA:2235] [KO:K01772]
(EPP2) CLPX [HSA:10845] [KO:K03544]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP, PCT) UROD [HSA:7389] [KO:K01599]
(ADP) ALAD [HSA:210] [KO:K01698]
(AIP) HMBS [HSA:3145] [KO:K01749]
(HCP) CPOX [HSA:1371] [KO:K00228]
(VP) PPOX [HSA:5498] [KO:K00231]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]
Drug
Hemin [DR:D10003]
Chlorpromazine hydrochloride [DR:D00789]
Other DBs
ICD-11: 5C58.1
ICD-10: E80
MeSH: D017092 D017094
OMIM: 177000 618015 263700 176000 176100 176200 121300 125270 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
Nordmann Y, Puy H
  Title
Human hereditary hepatic porphyrias.
  Journal
Clin Chim Acta 325:17-37 (2002)
DOI:10.1016/S0009-8981(02)00276-0
Reference
PMID:1755842 (FECH)
  Authors
Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC
  Title
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
  Journal
Biochem Biophys Res Commun 181:594-9 (1991)
DOI:10.1016/0006-291x(91)91231-z
Reference
PMID:28874591 (CLPX)
  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 (UROS)
  Authors
Xu W, Astrin KH, Desnick RJ
  Title
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
  Journal
Reference
PMID:2920211 (UROD)
  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:2063868 (ALAD)
  Authors
Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ
  Title
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
  Journal
Am J Hum Genet 49:167-74 (1991)
Reference
PMID:2563167 (HMBS)
  Authors
Grandchamp B, Picat C, Mignotte V, Wilson JH, Te Velde K, Sandkuyl L, Romeo PH, Goossens M, Nordmann Y
  Title
Tissue-specific splicing mutation in acute intermittent porphyria.
  Journal
Proc Natl Acad Sci U S A 86:661-4 (1989)
DOI:10.1073/pnas.86.2.661
Reference
PMID:8012360 (CPOX)
  Authors
Martasek P, Nordmann Y, Grandchamp B
  Title
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
  Journal
Hum Mol Genet 3:477-80 (1994)
DOI:10.1093/hmg/3.3.477
Reference
PMID:8852667 (PPOX)
  Authors
Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
  Title
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
  Journal
Hum Mol Genet 5:407-10 (1996)
DOI:10.1093/hmg/5.3.407
Reference
PMID:21653323 (ALAS2)
  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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