KEGG   DISEASE: Hepatic porphyria
Entry
H00202                      Disease                                
Name
Hepatic porphyria
  Subgroup
Porphyria Cutanea Tarda (PCT)
VHepatoerythropoietic porphyria
Acute Intermittent Porphyria (AIP)
Variegate porphyria (VP)
ALA-dehydratase deficiency porphyria (ALADP)
Hereditary Coproporphyria (HCP)
  Supergrp
Porphyria [DS:H01763]
Description
Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of cofactor/vitamin metabolism
   H00202  Hepatic 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
     H00202  Hepatic porphyria
Related
pathway
hsa00860  Porphyrin and chlorophyll metabolism
hsa01240  Biosynthesis of cofactors
Gene
(PCT) UROD [HSA:7389] [KO:K01599]
(AIP) HMBS [HSA:3145] [KO:K01749]
(VP) PPOX [HSA:5498] [KO:K00231]
(ALADP) ALAD [HSA:210] [KO:K01698]
(HCP) CPOX [HSA:1371] [KO:K00228]
Drug
Givosiran sodium [DR:D11708]
Chlorpromazine hydrochloride [DR:D00789]
Other DBs
ICD-11: 5C58.10
ICD-10: E80.1 E80.2
MeSH: D017094
OMIM: 176100 176000 176200 612740 121300
Reference
  Authors
Kauppinen R
  Title
Molecular diagnostics of acute intermittent porphyria.
  Journal
Expert Rev Mol Diagn 4:243-9 (2004)
DOI:10.1586/14737159.4.2.243
Reference
  Authors
Lecha M, Herrero C, Ozalla D
  Title
Diagnosis and treatment of the hepatic porphyrias.
  Journal
Dermatol Ther 16:65-72 (2003)
DOI:10.1046/j.1529-8019.2003.01610.x
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: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:9199558 (HMBS)
  Authors
Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y
  Title
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
  Journal
Am J Hum Genet 60:1373-83 (1997)
DOI:10.1086/515455
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: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: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

» Japanese version

DBGET integrated database retrieval system