Details of Disease | DrugMAP

General Information of Disease (ID: DISGM9QM)

Disease Name	Erythrocytosis, familial, 5
Synonyms	familial erythrocytosis 5; ECYT5; erythrocytosis, familial, 5; EPO familial polycythemia; familial polycythemia caused by mutation in EPO
Definition	Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.
Disease Hierarchy	DISOIGHH: Familial polycythemia DISGM9QM: Erythrocytosis, familial, 5
Disease Identifiers	MONDO ID MONDO_0033483 UMLS CUI C4693552 OMIM ID 617907 MedGen ID 1638941

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
EPO	TTQG4NR	Limited	Genetic Variation	[1]
EPO	TTQG4NR	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPO	OTZ90CN4	Strong	Autosomal dominant	[2]
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References

1	A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. N Engl J Med. 2018 Mar 8;378(10):924-930. doi: 10.1056/NEJMoa1709064.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.