Kategorie:
Immunsystem
PubID
Gen
MIM
11586351 Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
ADAMTS13
18796626 Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
C3
14615110 Familial haemolytic uraemic syndrome and an MCP mutation 14566051 Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.
CD46
17182750 Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
CFB
9551389 Genetic studies into inherited and sporadic hemolytic uremic syndrome. 10577907 Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome
CFH
23830046 Complement factor H related proteins (CFHRs) Christine Skerkaa,∗,
CFHR1
23830046 Complement factor H related proteins (CFHRs) Christine Skerkaa,∗,
CFHR2
23830046 Complement factor H related proteins (CFHRs)
CFHR3
23830046 Complement factor H related proteins (CFHRs)
CFHR4
23830046 Complement factor H related proteins (CFHRs) 20800271 Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
CFHR5
15173250 Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.
CFI
23542698 Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome 24511134 Phenotypic Expansion of DGKE-Associated Diseases
DGKE
22447314 Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria 24210589 Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency
MMACHC
19625716 Thrombomodulin mutations in atypical hemolytic-uremic syndrome
THBD