MCID: ATY045
MIFTS: 19

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
Atypical Hus 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 atypical hus 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 Innate Immune System and Immune response Lectin induced complement pathway. Related phenotypes are cardiovascular system and 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 top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 purpura 10.1 THBD C3
2 neisseria meningitidis infection 10.1 CD46 C3
3 monkeypox 10.1 CD46 C3
4 complement component 5 deficiency 10.0 CD46 C3
5 proliferative glomerulonephritis 10.0 CFH C3
6 louse-borne relapsing fever 10.0 CFH C3
7 relapsing fever 10.0 CFH C3
8 multifocal choroiditis 10.0 CFH CFB
9 choroiditis 10.0 CFH CFB
10 meningococcal meningitis 9.9 CFH C3
11 acute poststreptococcal glomerulonephritis 9.9 CFH C3
12 macular degeneration, age-related, 6 9.9 CFH CFB
13 macular degeneration, age-related, 4 9.9 CFH CFB
14 basal laminar drusen 9.9 CFH CFB
15 histoplasmosis 9.9 CFH C3
16 congenital hemolytic anemia 9.9 CD46 C3
17 kuhnt-junius degeneration 9.9 CFH CFB
18 complement factor i deficiency 9.9 CFI C3
19 complement component 2 deficiency 9.9 CFH CFB
20 methylmalonic aciduria and homocystinuria, cblc type 9.8 CFH CFB
21 de novo thrombotic microangiopathy after kidney transplantation 9.8 CFI CFH
22 complement component 3 deficiency 9.8 CFH CD46 C3
23 familial drusen 9.8 CFI CFH
24 immune-complex glomerulonephritis 9.8 CFI C3
25 dense deposit disease 9.8 CFH CFB C3
26 iga glomerulonephritis 9.7 CFH C3
27 severe pre-eclampsia 9.7 CFH CFB C3
28 antiphospholipid syndrome 9.7 THBD CFH C3
29 eye degenerative disease 9.7 CFH CFB C3
30 vasculitis 9.7 THBD C3
31 hemorrhagic disease 9.7 THBD CFH C3
32 afibrinogenemia, congenital 9.7 CFI CD46 C3
33 meningitis 9.6 CFI CD46 C3
34 hemoglobinuria 9.6 THBD CFI C3
35 paroxysmal nocturnal hemoglobinuria 9.6 THBD CFI C3
36 lyme disease 9.6 CFI CFH C3
37 complement factor h deficiency 9.6 CFI CFH CD46
38 kidney disease 9.6 THBD CFH C3
39 membranoproliferative glomerulonephritis 9.5 CFH CFB CD46 C3
40 blood platelet disease 9.5 THBD CFH CD46 C3
41 blood coagulation disease 9.5 THBD CFH CD46 C3
42 end stage renal disease 9.5 THBD CFH CD46 C3
43 chronic kidney disease 9.4 THBD CFI CFH
44 glomerulonephritis 9.3 CFI CFH CD46 C3
45 retinal drusen 9.3 CFI CFH CFB C3
46 hellp syndrome 9.3 THBD CFI CFH CD46
47 eye disease 9.3 CFI CFH CFB C3
48 c3 glomerulopathy 9.1 CFI CFH CFB CD46 C3
49 complement deficiency 9.1 CFI CFH CFB CD46 C3
50 thrombotic thrombocytopenic purpura 9.1 THBD CFI CFH 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 C3 CD46 CFB CFH THBD
2 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...

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
13.36 CFI CFH CFB CD46 C3
2
Show member pathways
11.75 CFI CFH CFB CD46 C3
3 11.54 CFI CFH CFB C3
4
Show member pathways
11.52 CFI CFH CFB CD46 C3
5 11.26 THBD CFI CFH CFB CD46 C3
6
Show member pathways
11.23 CFB 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 9.65 CFI CFH CFB CD46 C3
2 viral process GO:0016032 9.58 CFI CFH CD46
3 innate immune response GO:0045087 9.55 CFI CFH CFB CD46 C3
4 complement activation, classical pathway GO:0006958 9.54 CFI CD46 C3
5 complement activation GO:0006956 9.5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....