KEGG   DISEASE: Atypical hemolytic uremic syndromeHelp
H01434                      Disease                                

Atypical hemolytic uremic syndrome
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.
Hematologic disease
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
hsa04610 Complement and coagulation cascades   
(AHUS1) CFH [HSA:3075] [KO:K04004]
(AHUS1) CFHR3 [HSA:10878] [KO:K23815]
(AHUS1) CFHR1 [HSA:3078] [KO:K23815]
(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]
Eculizumab [DR:D03940]
Other DBs
ICD-11: 3A10.Y
ICD-10: D58.8
MeSH: D065766
OMIM: 235400 612922 612923 612924 612925 612926
Kavanagh D, Goodship TH, Richards A
Atypical haemolytic uraemic syndrome.
Br Med Bull 77-78:5-22 (2006)
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
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
Proc Natl Acad Sci U S A 104:240-5 (2007)
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
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
Blood 112:4948-52 (2008)
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
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
N Engl J Med 361:345-57 (2009)

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