KEGG DISEASE: Hereditary stomatocytosis

DISEASE: Hereditary stomatocytosis

Entry

H00232                      Disease

Name

Hereditary stomatocytosis

Subgroup

Dehydrated hereditary stomatocytosis (DHS) [DS:H01978]
Overhydrated hereditary stomatocytosis (OHST) [DS:H01979]
Familial pseudohyperkalemia (PSHK)
Cryohydrocytosis (CHC)
Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H00232  Hereditary stomatocytosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H00232  Hereditary stomatocytosis

Network

nt06535 Efferocytosis

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]

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (6)   
   OMIM (6)   
Gene (12)   
   KEGG ORTHOLOGY (6)   
   KEGG GENES (6)   
Literature (10)   
   PubMed (10)   
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