| H00236 | |
| H番号 | H00236 |
| 名称 | 先天性赤血球増加症; 家族性赤血球増加症 |
| 概要 | 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. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06518(H00236) JAK-STAT signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A80 ICD-10: D75.0 OMIM: 133100 263400 609820 611783 617907 617980 617981 222800 |
| 文献 | PMID:18538455 (ECYT2, ECYT3, ECYT4) 著者 Lee FS タイトル Genetic causes of erythrocytosis and the oxygen-sensing pathway. 雑誌 Blood Rev 22:321-32 (2008) DOI:10.1016/j.blre.2008.04.003 PMID:17454194 (ECYT1, ECYT2, ECYT3, ECYT5) 著者 Percy MJ タイトル Genetically heterogeneous origins of idiopathic erythrocytosis. 雑誌 Hematology 12:131-9 (2007) DOI:10.1080/10245330601111979 PMID:15642677 著者 Gordeuk VR, Stockton DW, Prchal JT タイトル Congenital polycythemias/erythrocytoses. 雑誌 Haematologica 90:109-16 (2005) PMID:29514032 (ECYT5) 著者 Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC タイトル A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 雑誌 N Engl J Med 378:924-930 (2018) DOI:10.1056/NEJMoa1709064 PMID:17795074 (ECYT6) 著者 Stamatoyannopoulos G, Yoshida A, Adamson J, Heinenberg S タイトル Hemoglobin Rainier (beta145 Tyrosine rarr Histidine): Alkali-Resistant Hemoglobin with Increased Oxygen Affinity. 雑誌 Science 159:741-3 (1968) DOI:10.1126/science.159.3816.741 PMID:2227935 (ECYT7) 著者 Mamalaki A, Horanyi M, Szelenyi J, Moschonas NK タイトル Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs. 雑誌 Hum Genet 85:509-12 (1990) DOI:10.1007/BF00194226 PMID:15054810 (ECYT8) 著者 Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF タイトル Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. 雑誌 Am J Hematol 75:205-8 (2004) DOI:10.1002/ajh.20014 |