H00236 | |
H number | H00236 |
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 |
Network | nt06518(H00236) JAK-STAT signaling |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 PMID:15642677 AUTHORS Gordeuk VR, Stockton DW, Prchal JT TITLE Congenital polycythemias/erythrocytoses. JOURNAL Haematologica 90:109-16 (2005) 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 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 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 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 |