Details of Disease | DrugMAP

General Information of Disease (ID: DIS6PGXC)

Disease Name	Protoporphyria, erythropoietic, 1
Synonyms	EPP; erythrohepatic protoporphyria; protoporphyria, erythropoietic; erythropoietic protoporphyria; EPP1; protoporphyria, erythropoietic, 1; heme synthetase deficiency; ferrochelatase deficiency
Definition	Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.
Disease Hierarchy	DISFG29C: Autosomal erythropoietic protoporphyria DIS6PGXC: Protoporphyria, erythropoietic, 1
Disease Identifiers	MONDO ID MONDO_0008319 UMLS CUI C4692546 OMIM ID 177000 MedGen ID 1643471

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FECH	TTQ6VF4	Strong	CausalMutation	[1]
FECH	TTQ6VF4	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FECH	OTDWEI6C	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.Dis Model Mech. 2017 Mar 1;10(3):225-233. doi: 10.1242/dmm.027755. Epub 2017 Jan 12.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.