Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 29/06/2006

Symbol	ECYT1
Location	19p13.2
Name	erythrocytosis, familial, 1
Other name(s)	polycythemia primary familial and congenital
Corresponding gene	EPOR
Other symbol(s)	PFCP1, EPOR
Main clinical features	primary erythrocytosis, with low level of erythropoietin (EPO)
Genetic determination	autosomal dominant
Function/system disorder	endocrinology
Type	disease

Gene product

Name	erythropoietin receptor (EPOR)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense		truncated protein	in exon 8 of EPOR
frameshift		truncated protein	in exon 8 of EPOR

Remark(s)