Chuvash polycythemia
Findings
No curated finding names Chuvash polycythemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009892), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient · Childhood onset
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- Increased circulating hemoglobin concentrationHPOHP:0001900
- 9 of 9 reported patients
- Increased hematocritHPOHP:0001899
- 7 of 7 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 1 reported patient
- Elevated circulating erythropoietin concentrationHPOHP:0033644
- 7 of 9 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VHLHGNC:12687
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Chuvash polycythemia
- Also called
- erythrocytosis, familial, type 2familial polycythemia caused by mutation in VHLVHL familial polycythemiaVon Hippel-Lindau-dependent polycythemia