Details of Disease

General Information of Disease (ID: DISVL7DV)

Disease Name Erythrocytosis, familial, 4
Synonyms ECYT4; familial polycythemia caused by mutation in EPAS1; EPAS1 familial polycythemia; erythrocytosis, familial, type 4; erythrocytosis, familial, 4
Definition Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.
Disease Hierarchy
DISOIGHH: Familial polycythemia
DISVL7DV: Erythrocytosis, familial, 4
Disease Identifiers
MONDO ID
MONDO_0012729
MESH ID
C567086
UMLS CUI
C2673187
OMIM ID
611783
MedGen ID
435867

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
EPAS1 TTDMLNT Strong Autosomal dominant [1]
EPAS1 TTWPA54 Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EPAS1 OTRE3O8U Strong Autosomal dominant [1]
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References

1 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.
2 Two new mutations in the HIF2A gene associated with erythrocytosis.Am J Hematol. 2012 Apr;87(4):439-42. doi: 10.1002/ajh.23123. Epub 2012 Feb 24.