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

» Japanese version

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   OMIM (5)   
Gene (9)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (5)   
Literature (3)   
   PubMed (3)   
All databases (19)   

Download RDF
DBGET integrated database retrieval system