Details of Disease | DrugMAP

General Information of Disease (ID: DIS181T8)

Disease Name	Erythrocytosis, familial, 3
Synonyms	ECYT3; erythrocytosis, familial, 3; familial polycythemia caused by mutation in EGLN1; erythrocytosis, familial, type 3; EGLN1 familial polycythemia
Definition	Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.
Disease Hierarchy	DISOIGHH: Familial polycythemia DIS181T8: Erythrocytosis, familial, 3
Disease Identifiers	MONDO ID MONDO_0012353 MESH ID C565221 UMLS CUI C1853286 OMIM ID 609820 MedGen ID 377868

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
EGLN1	TT9ISBX	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
EGLN1	DEWO724	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
EGLN1	OT5QODDK	Strong	Autosomal dominant	[2]
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References

1	A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.Blood. 2007 Sep 15;110(6):2193-6. doi: 10.1182/blood-2007-04-084434. Epub 2007 Jun 19.
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.