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GTR Home > Conditions/Phenotypes > Harderoporphyria

Harderoporphyria

Summary

Harderoporphyria (HARPO) is a rare erythropoietic variant form of hereditary coproporphyria (HCP; 121300) characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. During childhood and adulthood, a mild residual anemia is chronically observed (review by Schmitt et al., 2005). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COX, CPO, CPX, HARPO, HCP, CPOX
    Summary: coproporphyrinogen oxidase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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