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- Harderoporphyria abstract "Harderoporphyria is a rare disorder of heme biosynthesis, inherited in an autosomal recessive manner caused by specific mutations in the CPOX gene. Mutations in CPOX usually cause hereditary coproporphyria, an acute hepatic porphyria, however the K404E mutation in a homozygous or compound heterozygous state with a null allele cause the more severe harderoporphyria. Harderoporphyria is the first known metabolic disorder where the disease phenotype depended on the type and location of the mutations in a gene associated with multiple disorders.In contrast with other porphyrias, which typically present with either cutaneous lesions after exposure to sunlight or acute neurovisceral attack at any age (most commonly in adulthood), harderoporphyria is characterized by jaundice, anemia enlarged liver and spleen, often presenting in the neonatal period. Later in life, these individuals may present with photosensitivity similar to that found in cutaneous porphyrias.Biochemically, harderoporphyria presents with a distinct pattern of increased harderoporphyrin (2-vinyl-4,6,7-tripropionic acid porphyrin) in urine and particularly in feces, a metabolite that is not seen in significant quantities in any other porphyria. Enzyme tests show markedly reduced activity of coproporphyrinogen oxidase, compared to both unaffected individuals and those affected with hereditary coproporphyria, consistent with recessive inheritance.Harderoporphyria is a rare condition, with less than 10 cases reported worldwide. It may be underdiagnosed, as it does not have the typical presentation associated with a porphyria. It was identified as a variant type of coproporphyria in 1983, in a family with three children identified at birth with jaundice and hemolytic anemia. There is no standard treatment for harderoporphyria; care is mainly focused on the management of symptoms.".
- Harderoporphyria omim "121300".
- Harderoporphyria thumbnail Coproporphyrinogen_III.svg?width=300.
- Harderoporphyria wikiPageID "35962281".
- Harderoporphyria wikiPageLength "4838".
- Harderoporphyria wikiPageOutDegree "16".
- Harderoporphyria wikiPageRevisionID "707898140".
- Harderoporphyria wikiPageWikiLink Anemia.
- Harderoporphyria wikiPageWikiLink Category:Heme_metabolism_disorders.
- Harderoporphyria wikiPageWikiLink Category:Porphyrias.
- Harderoporphyria wikiPageWikiLink Coproporphyrinogen_III.
- Harderoporphyria wikiPageWikiLink Coproporphyrinogen_III_oxidase.
- Harderoporphyria wikiPageWikiLink Dominance_(genetics).
- Harderoporphyria wikiPageWikiLink Feces.
- Harderoporphyria wikiPageWikiLink Heme.
- Harderoporphyria wikiPageWikiLink Hereditary_coproporphyria.
- Harderoporphyria wikiPageWikiLink Jaundice.
- Harderoporphyria wikiPageWikiLink Null_allele.
- Harderoporphyria wikiPageWikiLink Phenotype.
- Harderoporphyria wikiPageWikiLink Porphyria.
- Harderoporphyria wikiPageWikiLink Spleen.
- Harderoporphyria wikiPageWikiLink Urine.
- Harderoporphyria wikiPageWikiLinkText "Harderoporphyria".
- Harderoporphyria wikiPageWikiLinkText "harderoporphyria".
- Harderoporphyria caption Coproporphyrinogen_III.
- Harderoporphyria name "Harderoporphyria".
- Harderoporphyria omim "121300".
- Harderoporphyria wikiPageUsesTemplate Template:Heme_metabolism_disorders.
- Harderoporphyria wikiPageUsesTemplate Template:Infobox_disease.
- Harderoporphyria wikiPageUsesTemplate Template:Reflist.
- Harderoporphyria subject Category:Heme_metabolism_disorders.
- Harderoporphyria subject Category:Porphyrias.
- Harderoporphyria hypernym Disorder.
- Harderoporphyria type Disease.
- Harderoporphyria type Disorder.
- Harderoporphyria type Error.
- Harderoporphyria type Thing.
- Harderoporphyria type Q12136.
- Harderoporphyria comment "Harderoporphyria is a rare disorder of heme biosynthesis, inherited in an autosomal recessive manner caused by specific mutations in the CPOX gene. Mutations in CPOX usually cause hereditary coproporphyria, an acute hepatic porphyria, however the K404E mutation in a homozygous or compound heterozygous state with a null allele cause the more severe harderoporphyria.".
- Harderoporphyria label "Harderoporphyria".
- Harderoporphyria sameAs Q5655924.
- Harderoporphyria sameAs m.0j_3zzq.
- Harderoporphyria sameAs Q5655924.
- Harderoporphyria wasDerivedFrom Harderoporphyria?oldid=707898140.
- Harderoporphyria depiction Coproporphyrinogen_III.svg.
- Harderoporphyria isPrimaryTopicOf Harderoporphyria.
- Harderoporphyria name "Harderoporphyria".