KEGG DISEASE: Hepatic porphyria

DISEASE: Hepatic porphyria

Entry

H00202                      Disease

Name

Hepatic porphyria

Subgroup

Porphyria Cutanea Tarda (PCT)
Hepatoerythropoietic porphyria
Acute Intermittent Porphyria (AIP)
Variegate porphyria (VP)
Childhood-onset variegate porphyria (VPCO)
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

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
     H00202  Hepatic porphyria

Pathway

hsa00860

Porphyrin metabolism

hsa01240

Biosynthesis of cofactors

Gene

(PCT) UROD [HSA:7389] [KO:K01599]
(AIP) HMBS [HSA:3145] [KO:K01749]
(VP/VPCO) 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

MeSH:

D017094 D017118 D046350 C562618 D046349

OMIM:

176100 176000 176200 620483 612740 121300

Reference

PMID:14995910

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

PMID:12919129

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

PMID:12367763

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:9540991 (VPCO)

Authors

Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM

Title

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.

Journal

J Invest Dermatol 110:452-5 (1998)
DOI:10.1046/j.1523-1747.1998.00148.x

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

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