KEGG   DISEASE: Cryohydrocytosis
Entry
H02002                      Disease                                
Name
Cryohydrocytosis
  Subgroup
Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)
  Supergrp
Hereditary stomatocytosis [DS:H00232]
Description
Cryohydrocytosis (CHC) is an exceedingly rare condition which shows a mild stomatocytic haemolytic state with hyperbilirubinaemia. Red blood cells from patients with CHC have increased membrane permeability to sodium and potassium ions, which is particularly pronounced at 0 degrees Celsius.
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
      H02002  Cryohydrocytosis
Pathway
hsa04966  Collecting duct acid secretion
Gene
(CHC) SLC4A1 [HSA:6521] [KO:K06573]
(SDCHCN) SLC2A1 [HSA:6513] [KO:K07299]
Other DBs
ICD-11: 3A10.Y
MeSH: C535827 C563840
OMIM: 185020 608885
Reference
PMID:14296416
  Authors
MILLER G, TOWNES PL, MACWHINNEY JB
  Title
A NEW CONGENITAL HEMOLYTIC ANEMIA WITH DEFORMED ERYTHROCYTES ("STOMATOCYTES") AND REMARKABLE SUSCEPTIBILITY OF ERYTHROCYTES TO COLD HEMOLYSIS IN VITRO. I. CLINICAL AND HEMATOLOGIC STUDIES.
  Journal
Pediatrics 35:906-15 (1965)
Reference
PMID:10554820
  Authors
Coles SE, Chetty MC, Ho MM, Nicolaou A, Kearney JW, Wright SD, Stewart GW
  Title
Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.
  Journal
Br J Haematol 105:1055-65 (1999)
DOI:10.1046/j.1365-2141.1999.01444.x
Reference
PMID:20015879
  Authors
Bogdanova A, Goede JS, Weiss E, Bogdanov N, Bennekou P, Bernhardt I, Lutz HU
  Title
Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.
  Journal
Haematologica 95:189-98 (2010)
DOI:10.3324/haematol.2009.010215
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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