| H00232 | |
| H number | H00232 |
| Name | Hereditary stomatocytosis |
| Description | 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. |
| Category | Hematologic disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A10.Y ICD-10: D58.8 OMIM: 185000 194380 616689 609153 185020 608885 |
| Reference | PMID:19261491 AUTHORS Bruce LJ TITLE Hereditary stomatocytosis and cation leaky red cells--recent developments. JOURNAL Blood Cells Mol Dis 42:216-22 (2009) DOI:10.1016/j.bcmd.2009.01.014 PMID:15071792 AUTHORS Delaunay J TITLE The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. JOURNAL Semin Hematol 41:165-72 (2004) DOI:10.1053/j.seminhematol.2004.02.005 PMID:10088641 AUTHORS Delaunay J, Stewart G, Iolascon A TITLE Hereditary dehydrated and overhydrated stomatocytosis: recent advances. JOURNAL Curr Opin Hematol 6:110-4 (1999) DOI:10.1097/00062752-199903000-00009 PMID:27756835 AUTHORS Andolfo I, Russo R, Gambale A, Iolascon A TITLE New insights on hereditary erythrocyte membrane defects. JOURNAL Haematologica 101:1284-1294 (2016) DOI:10.3324/haematol.2016.142463 PMID:18931342 (OHST) AUTHORS Bruce LJ, Guizouarn H, Burton NM, Gabillat N, Poole J, Flatt JF, Brady RL, Borgese F, Delaunay J, Stewart GW TITLE The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. JOURNAL Blood 113:1350-7 (2009) DOI:10.1182/blood-2008-07-171140 PMID:22529292 (DHS1) AUTHORS Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG TITLE Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. JOURNAL Blood 120:1908-15 (2012) DOI:10.1182/blood-2012-04-422253 PMID:26148990 (DHS2) AUTHORS 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 TITLE A mutation in the Gardos channel is associated with hereditary xerocytosis. JOURNAL Blood 126:1273-80 (2015) DOI:10.1182/blood-2015-04-642496 PMID:23180570 (PSHK2) AUTHORS 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 TITLE Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. JOURNAL Am J Hematol 88:66-72 (2013) DOI:10.1002/ajh.23357 PMID:16227998 (CHC) AUTHORS 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 TITLE 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. JOURNAL Nat Genet 37:1258-63 (2005) DOI:10.1038/ng1656 PMID:21791420 (SDCHCN) AUTHORS 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 TITLE Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. JOURNAL Blood 118:5267-77 (2011) DOI:10.1182/blood-2010-12-326645 |