familial erythrocytosis 1

Term ID

DOID:0060652

Synonyms

• autosomal dominant benign erythrocytosis
• ECYT1
• primary familial and congenital polycythemia

Definition

A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. https://www.ncbi.nlm.nih.gov/pubmed/9292543

References

• ICD10CM:D75.0
• OMIM:133100
• ORDO:90042

Ontology

Human Disease   ( DOID:0060652 )