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Primary familial polycythemia

Disease Export to PDF
Name:
Primary familial polycythemia
Description:
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
ORPHAcode:
90042
Synonyms:
Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital polycythemia due to erythropoietin receptor mutation
Familial erythrocytosis
PFCP
Primary congenital erythrocytosis
Primary familial and congenital polycythemia
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
EPOR
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANKRD26 0.00 0
    BPGM 0.00 0
    CSF1R 0.00 0
    CSF3R 0.00 0
    DDX41 0.00 0
    EGLN1 0.00 0
    ELANE 0.00 0
    EPAS1 0.00 0
    EPO 0.00 0
    EPOR 0.00 0
    GATA2 0.00 0
    JAK1 0.00 0
    JAK2 0.00 0
    JAK3 0.00 0
    MPL 0.00 0
    PIEZO1 0.00 0
    SLC30A10 0.00 0
    STAT3 0.00 0
    STAT5B 0.00 0
    THPO 0.00 0
    VHL 0.00 0
    SH2B3 0.00 0