MCID: ATY045
MIFTS: 16

Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality

Categories: Rare diseases

Aliases & Classifications for Atypical Hemolytic Uremic Syndrome with Complement Gene...

MalaCards integrated aliases for Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality:

Name: Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 59
Ahus with Complement Gene Abnormality 59

Classifications:



External Ids:

Orphanet 59 ORPHA544472

Summaries for Atypical Hemolytic Uremic Syndrome with Complement Gene...

MalaCards based summary : Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality, also known as ahus with complement gene abnormality, is related to proliferative glomerulonephritis and multifocal choroiditis. An important gene associated with Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality is C3 (Complement C3), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement Pathway. Related phenotype is renal/urinary system.

Related Diseases for Atypical Hemolytic Uremic Syndrome with Complement Gene...

Diseases related to Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 proliferative glomerulonephritis 10.5 CFH C3
2 multifocal choroiditis 10.3 CFH CFB
3 choroiditis 10.3 CFH CFB
4 neisseria meningitidis infection 10.2 CD46 C3
5 retinal drusen 10.1 CFH CFB C3
6 de novo thrombotic microangiopathy after kidney transplantation 10.1 CFI CFH
7 familial drusen 10.1 CFI CFH
8 complement component 3 deficiency 10.0 CFI C3
9 lyme disease 10.0 CFHR1 CFH C3
10 complement factor i deficiency 10.0 CFI C3
11 kuhnt-junius degeneration 10.0 CFHR4 CFH CFB
12 anterior uveitis 10.0 CFI CFH
13 thrombotic thrombocytopenic purpura 9.9 THBD CFH CD46
14 afibrinogenemia, congenital 9.9 CFI C3
15 afibrinogenemia 9.9 CFI CD46 C3
16 complement deficiency 9.9 CFH C3
17 nephrotic syndrome, type 7 9.9 DGKE CFH
18 hemolytic anemia 9.6 CFI CFH C3
19 methylmalonic aciduria and homocystinuria, cblc type 9.6 DGKE CD46
20 complement factor h deficiency 9.5 CFI CFHR1 CFH CD46
21 membranoproliferative glomerulonephritis 9.4 CFHR5 CFH CFB CD46 C3
22 hellp syndrome 9.4 THBD CFI CFH CD46
23 c3 glomerulopathy 9.3 CFHR5 CFHR3 CFHR1 CFB C3
24 glomerulonephritis 9.1 CFI CFHR5 CFH CD46 C3
25 dense deposit disease 8.9 DGKE CFHR5 CFH CFB C3
26 degeneration of macula and posterior pole 8.9 CFI CFHR3 CFHR1 CFH CFB C3
27 enterocolitis 8.1 CFI CFHR5 CFHR3 CFHR1 CFH CFB
28 macular degeneration, age-related, 1 7.7 CFI CFHR5 CFHR4 CFHR3 CFHR1 CFH
29 hemolytic-uremic syndrome 6.8 THBD DGKE CFI CFHR5 CFHR3 CFHR1
30 hemolytic uremic syndrome, atypical 1 6.4 THBD DGKE CFI CFHR5 CFHR4 CFHR3

Graphical network of the top 20 diseases related to Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality:



Diseases related to Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality

Symptoms & Phenotypes for Atypical Hemolytic Uremic Syndrome with Complement Gene...

MGI Mouse Phenotypes related to Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality:

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 Atypical Hemolytic Uremic Syndrome with Complement Gene...

Search Clinical Trials , NIH Clinical Center for Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality

Genetic Tests for Atypical Hemolytic Uremic Syndrome with Complement Gene...

Anatomical Context for Atypical Hemolytic Uremic Syndrome with Complement Gene...

Publications for Atypical Hemolytic Uremic Syndrome with Complement Gene...

Variations for Atypical Hemolytic Uremic Syndrome with Complement Gene...

Expression for Atypical Hemolytic Uremic Syndrome with Complement Gene...

Search GEO for disease gene expression data for Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality.

Pathways for Atypical Hemolytic Uremic Syndrome with Complement Gene...

GO Terms for Atypical Hemolytic Uremic Syndrome with Complement Gene...

Cellular components related to Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 CFI CFHR3 CFH CFB CD46 C3
2 extracellular region GO:0005576 9.7 CFI CFHR5 CFHR4 CFHR1 CFH CFB
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 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 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 9.54 CFI CD46 C3
3 complement activation GO:0006956 9.46 CFHR1 CFH CFB C3
4 negative regulation of protein binding GO:0032091 9.4 CFHR5 CFHR1
5 positive regulation of cytolysis GO:0045919 9.32 CFHR5 CFHR1
6 complement activation, alternative pathway GO:0006957 9.26 CFHR5 CFH CFB C3
7 regulation of complement activation GO:0030449 9.23 CFI CFHR5 CFHR4 CFHR1 CFH CFB

Molecular functions related to Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 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 Atypical Hemolytic Uremic Syndrome with Complement Gene...

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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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