MCID: IMM132
MIFTS: 22

Immunodeficiency Due to a Classical Component Pathway Complement Deficiency

Categories: Blood diseases, Rare diseases, Immune 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 56
Immunodeficiency Due to a C1, C4, or C2 Component Complement Deficiency 56
Immunodeficiency Due to an Early Component of Complement Deficiency 56

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

Orphanet 56 ORPHA169147
ICD10 via Orphanet 34 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 a c1, c4, or c2 component complement deficiency, is related to hemochromatosis and gout susceptibility 4. 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 phenotype is 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:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.16 C4B C4A
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 C4B C1QA C4A
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 C4B C1QA C4A
6 Decreased viability GR00240-S-1 9.8 C1QA
7 Decreased viability GR00381-A-1 9.8 C1QA C2
8 Decreased viability GR00381-A-2 9.8 C1QA C2
9 Decreased viability GR00381-A-3 9.8 C1QA C2
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 C4B C4A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.74 C4B C4A
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 C4B C1QA C4A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 C4B C4A
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 C4B C4A
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 C4B C4A
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 C4B C4A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.74 C4B C4A

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:

id 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
12.43 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
11.95 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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