KEGG   DISEASE: Hereditary spherocytosisHelp
Entry
H00230                      Disease                                

Name
Hereditary spherocytosis
Description
Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00230  Hereditary spherocytosis
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
      H00230  Hereditary spherocytosis
BRITE hierarchy
Gene
(SPH1) ANK1 [HSA:286] [KO:K10380]
(SPH2) SPTB [HSA:6710] [KO:K06115]
(SPH3) SPTA1 [HSA:6708] [KO:K06114]
(SPH4) SLC4A1 [HSA:6521] [KO:K06573]
(SPH5) EPB42 [HSA:2038]
Other DBs
ICD-11: 3A10.Y
ICD-10: D58.0
OMIM: 182900 616649 270970 612653 612690
Reference
  Authors
Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ
  Title
Guidelines for the diagnosis and management of hereditary spherocytosis.
  Journal
Br J Haematol 126:455-74 (2004)
DOI:10.1111/j.1365-2141.2004.05052.x
Reference
  Authors
Shah S, Vega R
  Title
Hereditary spherocytosis.
  Journal
Pediatr Rev 25:168-72 (2004)
Reference
  Authors
Eber S, Lux SE
  Title
Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
  Journal
Semin Hematol 41:118-41 (2004)
DOI:10.1053/j.seminhematol.2004.01.002

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