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Summary Literature (0)
DOID:0060652 - familial erythrocytosis 1


Disease Ontology 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.

Synonyms: ECYT1, autosomal dominant benign erythrocytosis, primary familial and congenital polycythemia

Xenbase Genes : jak2, sh2b3, epor

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007572 - primary familial polycythemia due to EPO receptor mutation

OMIM:
OMIM:133100 - ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), primary polycythemia (is_a)