Details of Disease

General Information of Disease (ID: DISSJ1BG)

• Disease Name: Chuvash polycythemia
• Synonyms: erythrocytosis, familial, 2; ECYT2; Chuvash erythrocytosis; polycythemia, Chuvash type; polycythemia, VHL-dependent; erythrocytosis, autosomal recessive benign; autosomal recessive benign erythrocytosis; VHL familial polycythemia; erythrocytosis, familial, type 2; familial polycythemia caused by mutation in VHL; Chuvash erythromatosis; Von Hippel-Lindau-dependent polycythemia; Chuvash polycythemia; familial erythrocytosis 2; Chuvash type polycythemia
• Definition: Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
• Disease Hierarchy:
  DISOIGHH: Familial polycythemia
  DIS013HR: Congenital secondary polycythemia
  DISSJ1BG: Chuvash polycythemia
• Disease Identifiers:
  MONDO ID: MONDO_0009892
  MESH ID: C563918
  UMLS CUI: C1837915
  OMIM ID: 263400
  MedGen ID: 332974
  Orphanet ID: 238557

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VHL	OT2C3JRN	Strong	Autosomal recessive	[1]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VHL	TTEMWSD	Disputed	CausalMutation	[2]
VHL	TTEMWSD	Strong	Autosomal recessive	[1]

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] Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.Cancer Biol Ther. 2016 Jun 2;17(6):599-603. doi: 10.1080/15384047.2016.1167293. Epub 2016 Apr 8.