| H00202 | |
| H number | H00202 |
| Name | Hepatic porphyria |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Givosiran sodium [DR:D11708] Chlorpromazine hydrochloride [DR:D00789] |
| Comment | - |
| Other DBs | ICD-11: 5C58.10 ICD-10: E80.1 E80.2 MeSH: D017094 OMIM: 176100 176000 176200 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 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 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 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 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 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 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) 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 |