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GENATLAS PHENOTYPE

last update : 14-10-2011

Symbol	PRV
Location	9p24.1
Name	polycythemia rubra vera
Other name(s)	polycythemia vera
Main clinical features	myeloproliferative disorder that, in most cases, occurs sporadically with a median age of 60 years, essential thrombocythemia, and idiopathic myelofibrosis, complicated with Budd Chiari syndrome characterized by obstruction and occlusion of the suprahepatic veins, a rare but typical complication in polycythemia vera
Genetic determination	autosomal recessive
Related entries	Budd-Chiari syndrome (OMIM 600880)
Function/system disorder	hematology
Type	malignancy

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/gain of function	in exon 12

Remark(s)

somatic mutations in JAK2 despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PRV is similar to that of JAK2 (V617F)-positive PRV (PMID: 21224469))