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GTR Home > Conditions/Phenotypes > Protoporphyria, erythropoietic, 2

Protoporphyria, erythropoietic, 2

Summary

Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by Yien et al., 2017) For discussion of genetic heterogeneity of EPP, see EPP1 (177000). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPP2, CLPX
    Summary: caseinolytic mitochondrial matrix peptidase chaperone subunit X

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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