KEGG   DISEASE: Atypical hemolytic uremic syndromeHelp
Entry
H01434                      Disease                                

Name
Atypical hemolytic uremic syndrome
Description
The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated (D+HUS) or non-diarrhoeal/atypical (aHUS). Approximately half of the patients with aHUS have mutations in genes that regulate the complement system. Several other conditions and factors, such as infection, drugs, pregnancy, and malignancy, have been reported to cause aHUS.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01434  Atypical hemolytic uremic syndrome
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
      H01434  Atypical hemolytic uremic syndrome
BRITE hierarchy
Pathway
hsa04610 Complement and coagulation cascades   
Gene
(AHUS1) CFH [HSA:3075] [KO:K04004]
(AHUS1) CFHR3 [HSA:10878]
(AHUS1) CFHR1 [HSA:3078]
(AHUS2) CD46, MCP [HSA:4179] [KO:K04007]
(AHUS3) CFI, IF [HSA:3426] [KO:K01333]
(AHUS4) CFB [HSA:629] [KO:K01335]
(AHUS5) C3 [HSA:718] [KO:K03990]
(AHUS6) THBD [HSA:7056] [KO:K03907]
Env factor
Bacterial: Streptococcus pneumoniae
Viruses: HIV
Drugs (Chemotherapy): Mitomycin C [DR:D00208], Gemcitabine [DG:DG00688], Cisplatin [DG:DG01679], Bleomycin [DG:DG00705],
Quinine [DR:D08460]
(Immunosuppressive agents): Cyclosporin [DR:D00184], Tacrolimus [DG:DG00439]
Oral contraceptive pill
Drug
Eculizumab [DR:D03940]
Other DBs
ICD-11: 3A10.Y
ICD-10: D58.8
MeSH: D065766
OMIM: 235400 612922 612923 612924 612925 612926
Reference
  Authors
Kavanagh D, Goodship TH, Richards A
  Title
Atypical haemolytic uraemic syndrome.
  Journal
Br Med Bull 77-78:5-22 (2006)
DOI:10.1093/bmb/ldl004
Reference
  Authors
Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez de Cordoba S
  Title
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
  Journal
Proc Natl Acad Sci U S A 104:240-5 (2007)
DOI:10.1073/pnas.0603420103
Reference
  Authors
Fremeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, Moghal N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, Hurault de Ligny B, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen BJ, Goodship TH, Atkinson JP
  Title
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
  Journal
Blood 112:4948-52 (2008)
DOI:10.1182/blood-2008-01-133702
Reference
  Authors
Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM
  Title
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
  Journal
N Engl J Med 361:345-57 (2009)
DOI:10.1056/NEJMoa0810739

» Japanese version

DBGET integrated database retrieval system