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Erythropoietic protoporphyria

From SNPedia

EPP is a metabolic disease that causes photosensitivity, and more specifically, a painful skin reaction to sunlight. It is caused by a defect in the Ferrochelatase enzyme (coded for by the FECH gene), the final step in synthesizing heme.

EPP is generally considered to be inherited as an autosomal recessive condition, typically associated with compound heterozygosity. However, inheriting a null allele along with a low-expressing allele can resemble autosomal dominance with incomplete penetrance (according to OMIM).

In late 2014, the European Medicines Agency recommended approval of the peptide drug Scenesse for the treatment of EPP; the manufacturer, Clinuvel, plans to file for approval in the US in 2015 as well as to develop the drug as a repigmentary agent for vitiligo, a condition with far more patients worldwide than EPP.

FECH gene SNPs in SNPedia associated with erythropoietic protoporphyria, and the microarrays testing them when known, include:

SNP Rs# Common synonym On microarray?
rs3848519 GLY55CYS 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, FamilyTreeDNA, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
rs118204037 MET267ILE
rs118204039 PHE417SER Ancestry v2
rs118204040 VAL363GLY Ancestry v2
rs267606804 ASN408LYS, PRO409SER, AND CYS411GLY Ancestry v2
rs2272783 IVS3AS, T-C, -48 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
rs397514476 ALA185THR Ancestry v2