KEGG DISEASE: Harderoporphyria

KEGG

DISEASE: Harderoporphyria

Entry

H03059                      Disease

Name

Harderoporphyria

Description

Harderoporphyria (HARPO) is a rare erythropoietic variant form of hereditary coproporphyria [DS:H00202], characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions and the accumulation of harderoporphyrin in feces. It has been reported that mutations in CPOX cause harderoporphyria. CPOX encodes the mitochondrial enzyme coproporphyrinogen oxidase. CPOX catalyzes the stepwise oxidative decarboxylation of the heme precursor, coproporphyrinogen III, to protoporphyrinogen IX via a tricarboxylic intermediate, harderoporphyrinogen.

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
     H03059  Harderoporphyria

Gene

CPOX [HSA:1371] [KO:K00228]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Hasanoglu A, Balwani M, Kasapkara CS, Ezgu FS, Okur I, Tumer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ

Title

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Journal

J Inherit Metab Dis 34:225-31 (2011)
DOI:10.1007/s10545-010-9237-9

Reference

Authors

Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H

Title

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Journal

Hum Mol Genet 14:3089-98 (2005)
DOI:10.1093/hmg/ddi342

LinkDB

» Japanese version

DBGET integrated database retrieval system