MCID: ATY045
MIFTS: 20

Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality

Categories: Blood diseases, Nephrological diseases, 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 58
Ahus with Complement Gene Abnormality 58

Classifications:

Orphanet: 58  
Rare renal diseases
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D58.8
Orphanet 58 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 purpura and neisseria meningitidis infection. 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. Affiliated tissues include kidney and eye, and related phenotypes are cardiovascular system and hematopoietic 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 purpura 10.1 THBD C3
2 neisseria meningitidis infection 10.1 CD46 C3
3 complement component 3 deficiency 10.0 CD46 C3
4 proliferative glomerulonephritis 10.0 CFH C3
5 complement component 5 deficiency 10.0 CD46 C3
6 multifocal choroiditis 9.9 CFH CFB
7 choroiditis 9.9 CFH CFB
8 meningococcal meningitis 9.9 CFH C3
9 macular degeneration, age-related, 6 9.9 CFH CFB
10 macular degeneration, age-related, 4 9.9 CFH CFB
11 basal laminar drusen 9.8 CFH CFB
12 relapsing fever 9.8 CFH C3
13 kuhnt-junius degeneration 9.8 CFH CFB
14 complement factor i deficiency 9.8 CFI C3
15 histoplasmosis 9.8 CFH C3
16 complement component 2 deficiency 9.7 CFH CFB
17 iga glomerulonephritis 9.7 CFH C3
18 de novo thrombotic microangiopathy after kidney transplantation 9.7 CFI CFH
19 familial drusen 9.7 CFI CFH
20 benign essential hypertension 9.7 CFI CFB
21 malignant hypertension 9.7 THBD CFH
22 blood platelet disease 9.7 THBD CD46
23 dense deposit disease 9.6 CFH CFB C3
24 severe pre-eclampsia 9.6 CFH CFB C3
25 antiphospholipid syndrome 9.6 THBD CFH C3
26 methylmalonic aciduria and homocystinuria, cblc type 9.6 CFI CFH
27 afibrinogenemia, congenital 9.5 CFI CD46 C3
28 meningitis 9.5 CFI CD46 C3
29 hemoglobinuria 9.5 THBD CFI C3
30 paroxysmal nocturnal hemoglobinuria 9.4 THBD CFI C3
31 thrombotic microangiopathy 9.4 CFI CFH CD46
32 lyme disease 9.4 CFI CFH C3
33 complement factor h deficiency 9.4 CFI CFH CD46
34 nephrotic syndrome, type 7 9.3 CFI CFH CFB
35 membranoproliferative glomerulonephritis 9.3 CFH CFB CD46 C3
36 kidney disease 9.1 THBD CFH C3
37 glomerulonephritis 9.1 CFI CFH CD46 C3
38 retinal drusen 9.0 CFI CFH CFB C3
39 hellp syndrome 9.0 THBD CFI CFH CD46
40 eye disease 8.9 CFI CFH CFB C3
41 c3 glomerulopathy 8.7 CFI CFH CFB CD46 C3
42 enterocolitis 8.7 CFI CFH CFB CD46 C3
43 complement deficiency 8.7 CFI CFH CFB CD46 C3
44 thrombotic thrombocytopenic purpura 8.7 THBD CFI CFH CD46 C3
45 degeneration of macula and posterior pole 8.7 CFI CFH CFB CD46 C3
46 macular degeneration, age-related, 1 8.6 CFI CFH CFB CD46 C3
47 genetic atypical hemolytic-uremic syndrome 8.3 THBD CFI CFH CFB CD46 C3
48 hemolytic-uremic syndrome 8.3 THBD CFI CFH CFB CD46 C3
49 hemolytic uremic syndrome, atypical 1 8.3 THBD CFI CFH CFB CD46 C3
50 hemolytic anemia 8.3 THBD CFI CFH CFB CD46 C3

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 C3 CD46 CFB CFH THBD
2 hematopoietic system MP:0005397 9.35 C3 CFB CFH CFI THBD
3 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...

MalaCards organs/tissues related to Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality:

40
Kidney, Eye

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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 CFI CFH CFB CD46 C3
2
Show member pathways
11.65 CFH CFB CD46 C3
3 11.54 CFI CFH CFB C3
4
Show member pathways
11.48 CFI CFH CFB CD46 C3
5 11.26 THBD CFI CFH CFB CD46 C3

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 9.55 CFI CFH CFB CD46 C3
2 cell surface GO:0009986 9.43 THBD CD46 C3
3 extracellular space GO:0005615 9.35 THBD CFI CFH CFB C3
4 blood microparticle GO:0072562 8.8 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 immune system process GO:0002376 9.58 CFB CD46 C3
2 innate immune response GO:0045087 9.55 CFI CFH CFB CD46 C3
3 viral process GO:0016032 9.54 CFI CFH CD46
4 complement activation, classical pathway GO:0006958 9.5 CFI CD46 C3
5 complement activation GO:0006956 9.43 CFH CFB C3
6 complement activation, alternative pathway GO:0006957 9.13 CFH CFB C3
7 regulation of complement activation GO:0030449 9.02 CFI CFH CFB CD46 C3

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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