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familial erythrocytosis 1
Summary
- Synonym
-
- ECYT1
- autosomal dominant benign erythrocytosis
- 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.
- Super Class
- autosomal dominant disease primary polycythemia
External Links
- Disease Ontology
- DOID:0060652
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30613 | Pyruvate kinase PKLR | |
| Q8N6Q3 | CD177 antigen |
