| H00232 | |
| H番号 | H00232 |
| 名称 | 遺伝性有口赤血球症 |
| 概要 | Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | (OHST) RHAG [HSA:6005] [KO:K06580] (DHS1) PIEZO1 [HSA:9780] [KO:K22128] (DHS2) KCNN4 [HSA:3783] [KO:K04945] (PSHK2) ABCB6 [HSA:10058] [KO:K05661] (CHC) SLC4A1 [HSA:6521] [KO:K06573] (SDCHCN) SLC2A1 [HSA:6513] [KO:K07299] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A10.Y ICD-10: D58.8 OMIM: 185000 194380 616689 609153 185020 608885 |
| 文献 | PMID:19261491 著者 Bruce LJ タイトル Hereditary stomatocytosis and cation leaky red cells--recent developments. 雑誌 Blood Cells Mol Dis 42:216-22 (2009) DOI:10.1016/j.bcmd.2009.01.014 PMID:15071792 著者 Delaunay J タイトル The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. 雑誌 Semin Hematol 41:165-72 (2004) DOI:10.1053/j.seminhematol.2004.02.005 PMID:10088641 著者 Delaunay J, Stewart G, Iolascon A タイトル Hereditary dehydrated and overhydrated stomatocytosis: recent advances. 雑誌 Curr Opin Hematol 6:110-4 (1999) DOI:10.1097/00062752-199903000-00009 PMID:27756835 著者 Andolfo I, Russo R, Gambale A, Iolascon A タイトル New insights on hereditary erythrocyte membrane defects. 雑誌 Haematologica 101:1284-1294 (2016) DOI:10.3324/haematol.2016.142463 PMID:18931342 (OHST) 著者 Bruce LJ, Guizouarn H, Burton NM, Gabillat N, Poole J, Flatt JF, Brady RL, Borgese F, Delaunay J, Stewart GW タイトル The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. 雑誌 Blood 113:1350-7 (2009) DOI:10.1182/blood-2008-07-171140 PMID:22529292 (DHS1) 著者 Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG タイトル Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. 雑誌 Blood 120:1908-15 (2012) DOI:10.1182/blood-2012-04-422253 PMID:26148990 (DHS2) 著者 Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Beroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C タイトル A mutation in the Gardos channel is associated with hereditary xerocytosis. 雑誌 Blood 126:1273-80 (2015) DOI:10.1182/blood-2015-04-642496 PMID:23180570 (PSHK2) 著者 Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A タイトル Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 雑誌 Am J Hematol 88:66-72 (2013) DOI:10.1002/ajh.23357 PMID:16227998 (CHC) 著者 Bruce LJ, Robinson HC, Guizouarn H, Borgese F, Harrison P, King MJ, Goede JS, Coles SE, Gore DM, Lutz HU, Ficarella R, Layton DM, Iolascon A, Ellory JC, Stewart GW タイトル Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 雑誌 Nat Genet 37:1258-63 (2005) DOI:10.1038/ng1656 PMID:21791420 (SDCHCN) 著者 Flatt JF, Guizouarn H, Burton NM, Borgese F, Tomlinson RJ, Forsyth RJ, Baldwin SA, Levinson BE, Quittet P, Aguilar-Martinez P, Delaunay J, Stewart GW, Bruce LJ タイトル Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 雑誌 Blood 118:5267-77 (2011) DOI:10.1182/blood-2010-12-326645 |