Details of Disease | DrugMAP

General Information of Disease (ID: DIS3EYYJ)

Disease Name	Protoporphyria, erythropoietic, 2
Synonyms	EPP2; protoporphyria, erythropoietic, 2
Disease Hierarchy	DISFG29C: Autosomal erythropoietic protoporphyria DIS3EYYJ: Protoporphyria, erythropoietic, 2
Disease Identifiers	MONDO ID MONDO_0060729 UMLS CUI C4693947 OMIM ID 618015 MedGen ID 1645733

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLPX	OTIT4JL0	Strong	Autosomal dominant	[1]
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References

1	Mutation in human CLPX elevates levels of -aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5.