Details of Disease

General Information of Disease (ID: DISKEVNK)

Disease Name Secondary polycythemia
Synonyms secondary polycythemia; secondary erythrocytosis
Definition
Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).
Disease Hierarchy
DIS8B6VW: Polycythemia
DISKEVNK: Secondary polycythemia
Disease Identifiers
MONDO ID
MONDO_0020115
UMLS CUI
C1318533
MedGen ID
231144
Orphanet ID
98428
SNOMED CT ID
44865000

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
VHL TTEMWSD Strong Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACO1 OT2VUR7L Strong Genetic Variation [2]
NFE2 OTLM94BI Strong Genetic Variation [3]
------------------------------------------------------------------------------------

References

1 Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cells.Am J Hematol. 2008 Feb;83(2):155-8. doi: 10.1002/ajh.21019.
2 A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2(V617F) positive polycythemia vera: a case report.BMC Cancer. 2018 Mar 13;18(1):286. doi: 10.1186/s12885-018-4127-x.
3 Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.Blood. 2013 May 9;121(19):3918-24. doi: 10.1182/blood-2012-11-469296. Epub 2013 Mar 28.