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
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5313 PKLR pyruvate kinase L/R
57126 CD177 CD177 molecule
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P30613 Pyruvate kinase PKLR
Q8N6Q3 CD177 antigen

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024