KEGG DISEASE: Atypical hemolytic uremic syndrome

KEGG

DISEASE: Atypical hemolytic uremic syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Immune system
  nt06513  Complement cascade
   H01434  Atypical hemolytic uremic syndrome

Pathway

Complement and coagulation cascades

Network

nt06513 Complement cascade

Gene

(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]

Drug

Eculizumab [DR:D03940]
Ravulizumab [DR:D11054]

Other DBs

ICD-11:

ICD-10:

MeSH:

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

PMID:9551389 (CFH)

Authors

Warwicker P, Goodship TH, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA

Title

Genetic studies into inherited and sporadic hemolytic uremic syndrome.

Journal

Kidney Int 53:836-44 (1998)
DOI:10.1111/j.1523-1755.1998.00824.x

Reference

PMID:17367211 (CFHR3 CFHR1)

Authors

Zipfel PF, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C

Title

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Journal

PLoS Genet 3:e41 (2007)
DOI:10.1371/journal.pgen.0030041

Reference

PMID:14615110 (CD46)

Authors

Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G

Title

Familial haemolytic uraemic syndrome and an MCP mutation.

Journal

Lancet 362:1542-7 (2003)
DOI:10.1016/S0140-6736(03)14742-3

Reference

PMID:15173250 (CFI)

Authors

Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH

Title

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

Journal

J Med Genet 41:e84 (2004)
DOI:10.1136/jmg.2004.019083

Reference

PMID:17182750 (CFB)

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

PMID:18796626 (C3)

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

PMID:19625716 (THBD)

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

LinkDB

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