KEGG   DISEASE: Overhydrated hereditary stomatocytosisHelp
Entry
H01979                      Disease                                

Name
Overhydrated hereditary stomatocytosis;
Hereditary xerocytosis
  Supergrp
Hereditary stomatocytosis [DS:H00232]
Description
Overhydrated hereditary stomatocytosis (OHST), which is clinically characterized by a hemolytic anemia, is a rare, dominantly inherited disorder of red blood cells (RBCs) associated with increased membrane permeability to monovalent cations and increased activity of the Na+K+-ATPase. The influx of Na+ exceeds the loss of K+ causing water influx and resulting in swollen erythrocytes, hemolysis, and stomatocyte formation. The OHST phenotype is also associated with a dramatic decrease or the absence of the 32-kDa membrane raft protein stomatin. OHST diagnosis is based on a hemolytic anemia associated with a massive right shift of the osmotic gradient ektacytometry curve and a decreased osmotic resistance, together with a major increase in a monovalent cation leak. Recently, OHST was found to be linked to amino acid substitutions in Rh-associated glycoprotein (RhAG).
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01979  Overhydrated hereditary stomatocytosis
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
      H01979  Overhydrated hereditary stomatocytosis
BRITE hierarchy
Gene
RHAG [HSA:6005] [KO:K06580]
Other DBs
ICD-11: 3A10.Y
ICD-10: D58.8
OMIM: 185000
Reference
  Authors
LOCK SP, SMITH RS, HARDISTY RM
  Title
Stomatocytosis: a hereditary red cell anomally associated with haemolytic anaemia.
  Journal
Br J Haematol 7:303-14 (1961)
DOI:10.1111/j.1365-2141.1961.tb00341.x
Reference
  Authors
Genetet S, Ripoche P, Picot J, Bigot S, Delaunay J, Armari-Alla C, Colin Y, Mouro-Chanteloup I
  Title
Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.
  Journal
Am J Physiol Cell Physiol 302:C419-28 (2012)
DOI:10.1152/ajpcell.00092.2011
Reference
  Authors
Darghouth D, Koehl B, Heilier JF, Madalinski G, Bovee P, Bosman G, Delaunay J, Junot C, Romeo PH
  Title
Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.
  Journal
Haematologica 96:1861-5 (2011)
DOI:10.3324/haematol.2011.045179
Reference
  Authors
Wilkinson DK, Turner EJ, Parkin ET, Garner AE, Harrison PJ, Crawford M, Stewart GW, Hooper NM
  Title
Membrane raft actin deficiency and altered Ca2+-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis.
  Journal
Biochim Biophys Acta 1778:125-32 (2008)
DOI:10.1016/j.bbamem.2007.09.016
Reference
  Authors
Shmukler BE, Mukodzi S, Andres O, Eber S, Alper SL
  Title
Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.
  Journal
Br J Haematol 161:602-4 (2013)
DOI:10.1111/bjh.12261

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