Chuvash erythrocytosis

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Chuvash erythrocytosis

ORPHA:238557Disease

Also called VHL-related polycythemia · Von Hippel-Lindau-related erythrocytosis · VHL-related erythrocytosis · Chuvash polycythemia · Von Hippel-Lindau-related polycythemia

What it is

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.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Disease

Gene

VHLDisease-causing germline mutation(s) (loss of function)

ICD-10 codes

D75.1filed under a broader ICD-10 category — shared with 3 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0009892OMIM 263400UMLS C4749274

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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