Details of Disease

General Information of Disease (ID: DISKHT4L)

Disease Name Obsolete autosomal dominant secondary polycythemia
Synonyms secondary polycythemia, autosomal dominant; autosomal dominant secondary erythrocytosis
Definition OBSOLETE. Autosomal dominant form of secondary polycythemia.
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISKHT4L: Obsolete autosomal dominant secondary polycythemia

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 Supportive Autosomal dominant [1]
EPO TTQG4NR Supportive Autosomal dominant [2]
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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 Supportive Autosomal dominant [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EGLN1 OT5QODDK Supportive Autosomal dominant [3]
EPAS1 OTRE3O8U Supportive Autosomal dominant [1]
EPO OTZ90CN4 Supportive Autosomal dominant [2]
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References

1 A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123.
2 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.
3 A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. doi: 10.1073/pnas.0508423103. Epub 2006 Jan 9.