MCID: GNT044
MIFTS: 26

Genetic Atypical Hemolytic-Uremic Syndrome

Categories: Genetic diseases

Aliases & Classifications for Genetic Atypical Hemolytic-Uremic Syndrome

MalaCards integrated aliases for Genetic Atypical Hemolytic-Uremic Syndrome:

Name: Genetic Atypical Hemolytic-Uremic Syndrome 24
Familial Atypical Hemolytic-Uremic Syndrome 24 29
Familial Atypical Hemolytic Uremic Syndrome 72

Characteristics:

GeneReviews:

24
Penetrance C3, cd46, cfh, cfi, and thbd. penetrance for pathogenic variants in these genes is: c3: 56%; cd46: 53%; cfh: 48%; cfi: 50%; and thbd: 64% [caprioli et al 2006, noris et al 2010], indicating that additional genetic and environmental factors contribute to disease development in affected individuals with pathogenic variants in these genes [rodríguez de córdoba et al 2014]....

Classifications:



External Ids:

UMLS 72 C4055018

Summaries for Genetic Atypical Hemolytic-Uremic Syndrome

MalaCards based summary : Genetic Atypical Hemolytic-Uremic Syndrome, also known as familial atypical hemolytic-uremic syndrome, is related to hemolytic anemia and glomerulonephritis. An important gene associated with Genetic Atypical Hemolytic-Uremic Syndrome is C3 (Complement C3), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement Pathway. Affiliated tissues include kidney, liver and endothelial, and related phenotype is renal/urinary system.

GeneReviews: NBK1367

Related Diseases for Genetic Atypical Hemolytic-Uremic Syndrome

Diseases related to Genetic Atypical Hemolytic-Uremic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 29.5 CFI CFH C3
2 glomerulonephritis 29.4 CFI CFH CD46 C3
3 hemolytic-uremic syndrome 25.9 THBD DGKE CFI CFHR3 CFHR1 CFH
4 hemolytic uremic syndrome, atypical 1 25.1 THBD DGKE CFI CFHR4 CFHR3 CFHR1
5 proliferative glomerulonephritis 10.4 CFH C3
6 acute kidney failure 10.3
7 multifocal choroiditis 10.3 CFH CFB
8 choroiditis 10.2 CFH CFB
9 thrombocytopenia 10.2
10 neisseria meningitidis infection 10.1 CD46 C3
11 de novo thrombotic microangiopathy after kidney transplantation 10.1 CFI CFH
12 hemolytic uremic syndrome, atypical 2 10.1
13 hemolytic uremic syndrome, atypical 3 10.1
14 hemolytic uremic syndrome, atypical 4 10.1
15 hemolytic uremic syndrome, atypical 5 10.1
16 hemolytic uremic syndrome, atypical 6 10.1
17 streptococcus pneumonia 10.1
18 end stage renal failure 10.1
19 hypertensive encephalopathy 10.1
20 dengue shock syndrome 10.1
21 diarrhea 10.1
22 thrombotic microangiopathy 10.1
23 retinal drusen 10.1 CFH CFB C3
24 familial drusen 10.1 CFI CFH
25 complement component 3 deficiency 10.0 CFI C3
26 complement factor i deficiency 10.0 CFI C3
27 lyme disease 10.0 CFHR1 CFH C3
28 anterior uveitis 9.9 CFI CFH
29 afibrinogenemia, congenital 9.9 CFI C3
30 kuhnt-junius degeneration 9.9 CFHR4 CFH CFB
31 thrombotic thrombocytopenic purpura 9.8 THBD CFH CD46
32 nephrotic syndrome, type 7 9.8 DGKE CFH
33 afibrinogenemia 9.8 CFI CD46 C3
34 complement deficiency 9.8 CFH C3
35 membranoproliferative glomerulonephritis 9.8 CFH CFB CD46 C3
36 c3 glomerulopathy 9.7 CFHR3 CFHR1 CFB C3
37 methylmalonic aciduria and homocystinuria, cblc type 9.6 DGKE CD46
38 complement factor h deficiency 9.4 CFI CFHR1 CFH CD46
39 dense deposit disease 9.3 DGKE CFH CFB C3
40 hellp syndrome 9.3 THBD CFI CFH CD46
41 degeneration of macula and posterior pole 8.7 CFI CFHR3 CFHR1 CFH CFB C3
42 enterocolitis 8.4 CFI CFHR3 CFHR1 CFH CFB CD46
43 macular degeneration, age-related, 1 7.9 CFI CFHR4 CFHR3 CFHR1 CFH CFB

Graphical network of the top 20 diseases related to Genetic Atypical Hemolytic-Uremic Syndrome:



Diseases related to Genetic Atypical Hemolytic-Uremic Syndrome

Symptoms & Phenotypes for Genetic Atypical Hemolytic-Uremic Syndrome

MGI Mouse Phenotypes related to Genetic Atypical Hemolytic-Uremic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 C3 CFB CFH CFI THBD

Drugs & Therapeutics for Genetic Atypical Hemolytic-Uremic Syndrome

Search Clinical Trials , NIH Clinical Center for Genetic Atypical Hemolytic-Uremic Syndrome

Genetic Tests for Genetic Atypical Hemolytic-Uremic Syndrome

Genetic tests related to Genetic Atypical Hemolytic-Uremic Syndrome:

# Genetic test Affiliating Genes
1 Familial Atypical Hemolytic-Uremic Syndrome 29

Anatomical Context for Genetic Atypical Hemolytic-Uremic Syndrome

MalaCards organs/tissues related to Genetic Atypical Hemolytic-Uremic Syndrome:

41
Kidney, Liver, Endothelial

Publications for Genetic Atypical Hemolytic-Uremic Syndrome

Articles related to Genetic Atypical Hemolytic-Uremic Syndrome:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. 38 4
25854283 2015
2
An international consensus approach to the management of atypical hemolytic uremic syndrome in children. 4
25859752 2016
3
Eculizumab in pregnancy-associated atypical hemolytic uremic syndrome: insights for optimizing management. 4
25712233 2015
4
Atypical aHUS: State of the art. 4
25843230 2015
5
The role of complement in C3 glomerulopathy. 4
25929733 2015
6
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation. 4
24904082 2015
7
Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign? 4
24652797 2014
8
Eculizumab for the treatment of pregnancy-related atypical hemolytic uremic syndrome. 4
24306089 2014
9
A complement factor B mutation in a large kindred with atypical hemolytic uremic syndrome. 4
24906628 2014
10
Genetics of atypical hemolytic uremic syndrome (aHUS). 4
24799305 2014
11
C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. 4
24799308 2014
12
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy. 4
23870792 2013
13
A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome. 4
23880784 2013
14
Atypical hemolytic uremic syndrome: from the rediscovery of complement to targeted therapy. 4
23756030 2013
15
Eculizumab for atypical hemolytic uremic syndrome in pregnancy. 4
23884270 2013
16
Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. 4
23738544 2013
17
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. 4
23542698 2013
18
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. 4
23307876 2013
19
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. 4
23274426 2013
20
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. 4
23431077 2013
21
Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation. 4
22958221 2012
22
Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. 4
23026949 2012
23
Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case. 4
22669321 2012
24
Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. 4
22456601 2012
25
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene. 4
22622361 2012
26
Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein. 4
22494769 2012
27
Atypical hemolytic uremic syndrome. 4
21902819 2011
28
Prophylactic eculizumab prior to kidney transplantation for atypical hemolytic uremic syndrome. 4
21556717 2011
29
Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome. 4
21617085 2011
30
A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome. 4
20974643 2011
31
Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. 4
20852386 2010
32
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. 4
20595690 2010
33
Thrombotic microangiopathy after kidney transplantation. 4
20642678 2010
34
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 4
20513133 2010
35
A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome. 4
20108004 2010
36
Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. 4
20203157 2010
37
The management of pregnancy in paroxysmal nocturnal haemoglobinuria on long term eculizumab. 4
20151973 2010
38
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. 4
19861685 2010
39
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 4
19821824 2010
40
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. 4
19584399 2009
41
Thrombomodulin mutations in atypical hemolytic-uremic syndrome. 4
19625716 2009
42
Liver-kidney transplantation to cure atypical hemolytic uremic syndrome. 4
19092117 2009
43
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. 4
18800230 2009
44
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 4
18796626 2008
45
Streptococcus pneumoniae-associated hemolytic uremic syndrome. 4
17564729 2008
46
Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation. 4
18483746 2008
47
Discovery and development of the complement inhibitor eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria. 4
17989688 2007
48
A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation. 4
17084897 2007
49
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. 4
17367211 2007
50
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 4
17018561 2007

Variations for Genetic Atypical Hemolytic-Uremic Syndrome

Expression for Genetic Atypical Hemolytic-Uremic Syndrome

Search GEO for disease gene expression data for Genetic Atypical Hemolytic-Uremic Syndrome.

Pathways for Genetic Atypical Hemolytic-Uremic Syndrome

GO Terms for Genetic Atypical Hemolytic-Uremic Syndrome

Cellular components related to Genetic Atypical Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 CFI CFHR4 CFHR1 CFH CFB C3
2 extracellular exosome GO:0070062 9.63 CFI CFHR3 CFH CFB CD46 C3
3 extracellular space GO:0005615 9.5 THBD CFI CFHR3 CFHR1 CFH CFB
4 blood microparticle GO:0072562 9.02 CFHR3 CFHR1 CFH CFB C3

Biological processes related to Genetic Atypical Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.65 CFI CFH CFB CD46 C3
2 complement activation, classical pathway GO:0006958 9.5 CFI CD46 C3
3 complement activation GO:0006956 9.46 CFHR1 CFH CFB C3
4 regulation of complement activation GO:0030449 9.17 CFI CFHR4 CFHR1 CFH CFB CD46
5 complement activation, alternative pathway GO:0006957 9.13 CFH CFB C3

Molecular functions related to Genetic Atypical Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.62 CFI CFB

Sources for Genetic Atypical Hemolytic-Uremic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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