MCID: IMM132
MIFTS: 24

Immunodeficiency Due to a Classical Component Pathway Complement Deficiency

Categories: Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Immunodeficiency Due to a Classical Component Pathway Complement...

MalaCards integrated aliases for Immunodeficiency Due to a Classical Component Pathway Complement Deficiency:

Name: Immunodeficiency Due to a Classical Component Pathway Complement Deficiency 55
Immunodeficiency Due to C1, C4, or C2 Component Complement Deficiency 55
Immunodeficiency Due to an Early Component of Complement Deficiency 55

Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

Orphanet 55 ORPHA169147
ICD10 via Orphanet 33 D84.1

Summaries for Immunodeficiency Due to a Classical Component Pathway Complement...

MalaCards based summary : Immunodeficiency Due to a Classical Component Pathway Complement Deficiency, also known as immunodeficiency due to c1, c4, or c2 component complement deficiency, is related to juvenile dermatitis herpetiformis and systemic lupus erythematosus 16. An important gene associated with Immunodeficiency Due to a Classical Component Pathway Complement Deficiency is C2 (Complement C2), and among its related pathways/superpathways are Innate Immune System and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Immunodeficiency Due to a Classical Component Pathway Complement...

Graphical network of the top 20 diseases related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency:



Diseases related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency

Symptoms & Phenotypes for Immunodeficiency Due to a Classical Component Pathway Complement...

GenomeRNAi Phenotypes related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency according to GeneCards Suite gene sharing:

25 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.16 C4A C4B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.16 C1QA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.16 C1QA C4A C4B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.16 C1QA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.16 C1QA C4A C4B
6 Decreased viability GR00240-S-1 9.8 C1QA
7 Decreased viability GR00381-A-1 9.8 C2 C1QA
8 Decreased viability GR00381-A-2 9.8 C1QA C2
9 Decreased viability GR00381-A-3 9.8 C2 C1QA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 C1QA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 C1QA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.74 C4A C4B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.74 C4A C4B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.74 C1QA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.74 C4A C4B C1QA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 C4A C4B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.74 C1QA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.74 C4A C4B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.74 C1QA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.74 C1QA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.74 C1QA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 C4A C4B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.74 C1QA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.74 C1QA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 C4A C4B
26 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.74 C4A C4B

Drugs & Therapeutics for Immunodeficiency Due to a Classical Component Pathway Complement...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency Due to a Classical Component Pathway Complement Deficiency

Genetic Tests for Immunodeficiency Due to a Classical Component Pathway Complement...

Anatomical Context for Immunodeficiency Due to a Classical Component Pathway Complement...

Publications for Immunodeficiency Due to a Classical Component Pathway Complement...

Variations for Immunodeficiency Due to a Classical Component Pathway Complement...

Expression for Immunodeficiency Due to a Classical Component Pathway Complement...

Search GEO for disease gene expression data for Immunodeficiency Due to a Classical Component Pathway Complement Deficiency.

Pathways for Immunodeficiency Due to a Classical Component Pathway Complement...

Pathways related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 C1QA C1QB C1QC C1R C1S C2
2
Show member pathways
13.42 C1QA C1QB C1QC C1R C1S C2
3
Show member pathways
12.14 C1QA C1QB C1QC
4 12.11 C1QA C1QB C1QC C1R C1S C2
5
Show member pathways
12.02 C1QA C1QB C1QC C1R C1S C2
6
Show member pathways
11.94 C1QA C1QB C1QC C1R C1S C2
7
Show member pathways
11.88 C1QA C1QB C1QC C1R C1S C2
8 11.44 C1QA C1QB C1QC C1R C1S C2
9 11.15 C1QA C1QB C1QC
10 10.97 C1QA C1QB C1QC C1R C1S C2

GO Terms for Immunodeficiency Due to a Classical Component Pathway Complement...

Cellular components related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 C1QA C1QB C1QC C1R C2 C4A
2 extracellular exosome GO:0070062 9.76 C1QA C1QB C1QC C1R C1S C2
3 extracellular region GO:0005576 9.56 C1QA C1QB C1QC C1R C1S C2
4 collagen trimer GO:0005581 9.54 C1QA C1QB C1QC
5 complement component C1 complex GO:0005602 9.32 C1QA C1QB
6 blood microparticle GO:0072562 9.1 C1QB C1QC C1R C1S C4A C4B

Biological processes related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.92 C1QA C1QB C1QC C1R C1S C2
2 innate immune response GO:0045087 9.86 C1QA C1QB C1QC C1R C1S C2
3 complement activation, classical pathway GO:0006958 9.76 C1QA C1QB C1QC C1R C1S C2
4 immune system process GO:0002376 9.58 C1S C4A C4B
5 regulation of complement activation GO:0030449 9.56 C1QA C1QB C1QC C1R C1S C2
6 positive regulation of apoptotic cell clearance GO:2000427 9.54 C2 C4A C4B
7 complement activation GO:0006956 9.23 C1QA C1QB C1QC C1R C1S C2

Molecular functions related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.23 C1QA C1QB C1QC C1R C1S C2
2 endopeptidase inhibitor activity GO:0004866 9.16 C4A C4B
3 serine-type peptidase activity GO:0008236 9.13 C1R C1S C2

Sources for Immunodeficiency Due to a Classical Component Pathway Complement...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....