KEGG   DISEASE: Rh-null hemolytic anemia (RHN)
Entry
H01214                      Disease                                
Name
Rh-null hemolytic anemia (RHN);
Rh-deficiency syndrome
Description
Rh (Rhesus) null hemolytic anemia (RHN) is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein family comprises Rh50 glycoprotein and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. It is reported that RHN is caused by mutations of RHAG that encodes Rh50 glycoprotein.
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
      H01214  Rh-null hemolytic anemia (RHN)
Gene
RHAG [HSA:6005] [KO:K06580]
Other DBs
ICD-11: 3A10.Y
ICD-10: D58.8
OMIM: 268150
Reference
PMID:10467273
  Authors
Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
  Title
Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.
  Journal
Am J Hematol 62:25-32 (1999)
DOI:10.1002/(SICI)1096-8652(199909)62:1<25::AID-AJH5>3.0.CO;2-K
Reference
PMID:9442063
  Authors
Huang CH
  Title
The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease.
  Journal
J Biol Chem 273:2207-13 (1998)
DOI:10.1074/jbc.273.4.2207
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