KEGG   DISEASE: PorphyriaHelp
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
Inherited metabolic disease
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
BRITE hierarchy
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
Network
N00602  FECH deficiency in heme biosynthesis
N00603  PPOX deficiency in heme biosynthesis
N00604  CPOX deficiency in heme biosynthesis
N00605  UROD deficiency in heme biosynthesis
N00606  UROS deficiency in heme biosynthesis
N00607  HMBS deficiency in heme biosynthesis
N00608  ALAD deficiency in heme biosynthesis
N00609  ALAS2 deficiency in heme biosynthesis
Gene
(EPP) FECH [HSA:2235] [KO:K01772]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP) UROD [HSA:7389] [KO:K01599]
(ADP) ALAD [HSA:210] [KO:K01698]
(AIP) HMBS [HSA:3145] [KO:K01749]
(PCT) UROD [HSA:7389] [KO:K01599]
(HCP) CPOX [HSA:1371] [KO:K00228]
(VP) PPOX [HSA:5498] [KO:K00231]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]
Drug
Chlorpromazine hydrochloride [DR:D00789]
Hemin [DR:D10003]
Other DBs
ICD-11: 5C58.1
ICD-10: E80
MeSH: D017092 D017094
OMIM: 177000 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
PMID:12367763 (gene, drug)
  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
  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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