KEGG   DISEASE: Congenital polycythemia
Entry
H00236                      Disease                                
Name
Congenital polycythemia;
Familial erythrocytosis (ECYT)
Description
Congenital polycythemia or familial 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 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
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H00236  Congenital polycythemia
 Cellular process
  nt06535  Efferocytosis
   H00236  Congenital polycythemia
Pathway
hsa04630  JAK-STAT signaling pathway
hsa04148  Efferocytosis
Network
nt06518 JAK-STAT signaling
nt06535 Efferocytosis
Gene
(ECYT1) EPOR [HSA:2057] [KO:K05079]
(ECYT1) JAK2 [HSA:3717] [KO:K04447]
(ECYT1) SH2B3 [HSA:10019] [KO:K12459]
(ECYT2) VHL [HSA:7428] [KO:K03871]
(ECYT3) EGLN1 [HSA:54583] [KO:K09592]
(ECYT4) EPAS1 [HSA:2034] [KO:K09095]
(ECYT5) EPO [HSA:2056] [KO:K05437]
(ECYT6) HBB [HSA:3043] [KO:K13823]
(ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822]
(ECYT8) BPGM [HSA:669] [KO:K01837]
Other DBs
ICD-11: 3A80
ICD-10: D75.0
OMIM: 133100 263400 609820 611783 617907 617980 617981 222800
Reference
PMID:18538455 (ECYT2, ECYT3, ECYT4)
  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
PMID:17454194 (ECYT1, ECYT2, ECYT3, ECYT5)
  Authors
Percy MJ
  Title
Genetically heterogeneous origins of idiopathic erythrocytosis.
  Journal
Hematology 12:131-9 (2007)
DOI:10.1080/10245330601111979
Reference
PMID:15642677
  Authors
Gordeuk VR, Stockton DW, Prchal JT
  Title
Congenital polycythemias/erythrocytoses.
  Journal
Haematologica 90:109-16 (2005)
Reference
PMID:29514032 (ECYT5)
  Authors
Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC
  Title
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
  Journal
N Engl J Med 378:924-930 (2018)
DOI:10.1056/NEJMoa1709064
Reference
PMID:17795074 (ECYT6)
  Authors
Stamatoyannopoulos G, Yoshida A, Adamson J, Heinenberg S
  Title
Hemoglobin Rainier (beta145 Tyrosine rarr Histidine): Alkali-Resistant Hemoglobin with Increased Oxygen Affinity.
  Journal
Science 159:741-3 (1968)
DOI:10.1126/science.159.3816.741
Reference
PMID:2227935 (ECYT7)
  Authors
Mamalaki A, Horanyi M, Szelenyi J, Moschonas NK
  Title
Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs.
  Journal
Hum Genet 85:509-12 (1990)
DOI:10.1007/BF00194226
Reference
PMID:15054810 (ECYT8)
  Authors
Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
  Title
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
  Journal
Am J Hematol 75:205-8 (2004)
DOI:10.1002/ajh.20014
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