KEGG   DISEASE: Congenital polycythemiaHelp
Entry
H00236                      Disease                                

Name
Congenital polycythemia;
Familial erythrocytosis (ECYT)
Description
Familial and congenital polycythemia/erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia sensing. In primary polycythemias there is an innate defect in the hematopoietic progenitors which allows constitutive overproduction whereas in secondary polycythemias normal progenitors are acted on by serum erythropoietin.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00236  Congenital polycythemia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Polycythaemia
    3A80  Congenital polycythaemia
     H00236  Congenital polycythemia
BRITE hierarchy
Gene
(ECYT1) EPOR [HSA:2057] [KO:K05079]
(ECYT2) VHL [HSA:7428] [KO:K03871]
(ECYT3) EGLN1 [HSA:54583] [KO:K09592]
(ECYT4) EPAS1 [HSA:2034] [KO:K09095]
Other DBs
ICD-11: 3A80
ICD-10: D75.0
OMIM: 133100 263400 609820 611783
Reference
  Authors
Lee FS
  Title
Genetic causes of erythrocytosis and the oxygen-sensing pathway.
  Journal
Blood Rev 22:321-32 (2008)
DOI:10.1016/j.blre.2008.04.003
Reference
  Authors
Percy MJ
  Title
Genetically heterogeneous origins of idiopathic erythrocytosis.
  Journal
Hematology 12:131-9 (2007)
DOI:10.1080/10245330601111979
Reference
  Authors
Gordeuk VR, Stockton DW, Prchal JT
  Title
Congenital polycythemias/erythrocytoses.
  Journal
Haematologica 90:109-16 (2005)

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