Details of Disease | DrugMAP

General Information of Disease (ID: DISFG29C)

Disease Name	Autosomal erythropoietic protoporphyria
Synonyms	EPP
Definition	Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Disease Hierarchy	DISH4BY0: Erythropoietic protoporphyria DISFG29C: Autosomal erythropoietic protoporphyria

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FECH	TTQ6VF4	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FECH	OTDWEI6C	Supportive	Autosomal dominant	[1]
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References

1	Erythropoietic Protoporphyria, Autosomal Recessive. 2012 Sep 27 [updated 2017 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.