MCID: IMM132
MIFTS: 20

Immunodeficiency Due to a Classical Component Pathway Complement Deficiency

Categories: Blood diseases, Immune 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 58
Immunodeficiency Due to C1, C4, or C2 Component Complement Deficiency 58
Immunodeficiency Due to an Early Component of Complement Deficiency 58

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D84.1
Orphanet 58 ORPHA169147

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 periodontal ehlers-danlos syndrome and ehlers-danlos syndrome, periodontal type, 1. An important gene associated with Immunodeficiency Due to a Classical Component Pathway Complement Deficiency is C1QA (Complement C1q A Chain), 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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

Diseases related to Immunodeficiency Due to a Classical Component Pathway Complement Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 periodontal ehlers-danlos syndrome 10.0 C1S C1R
2 ehlers-danlos syndrome, periodontal type, 1 10.0 C1S C1R
3 ehlers-danlos syndrome, periodontal type, 2 10.0 C1S C1R
4 congenital intrinsic factor deficiency 10.0 C1S C1R
5 gingival recession 10.0 C1S C1R
6 c1q deficiency 9.9 C1QC C1QB C1QA
7 prion disease 9.9 C1QC C1QB C1QA
8 c1 inhibitor deficiency 9.9 C1S C1R
9 relapsing fever 9.8 C4B C4A
10 juvenile dermatitis herpetiformis 9.8 C4B C4A
11 tick-borne relapsing fever 9.8 C4B C4A
12 complement factor i deficiency 9.8 C4B C4A
13 pediatric systemic lupus erythematosus 9.8 C4B C4A
14 monkeypox 9.8 C4B C4A
15 epilepsy, familial temporal lobe, 2 9.7 C4B C4A
16 felty syndrome 9.7 C4B C4A
17 hypersensitivity vasculitis 9.7 C4B C4A
18 systemic lupus erythematosus 16 9.7 C4A C1R C1QA
19 capillary leak syndrome 9.7 C4A C1S
20 hypersensitivity reaction type iii disease 9.6 C4B C4A
21 hemolytic-uremic syndrome 9.6 C4B C2
22 blood protein disease 9.6 C4B C4A
23 louse-borne relapsing fever 9.6 C4B C4A C1S
24 hereditary angioedema 9.5 C4B C4A C1S
25 complement component 2 deficiency 9.5 C4B C4A C2
26 complement component 5 deficiency 9.4 C4B C4A C1R C1QA
27 complement component 3 deficiency 9.3 C4B C4A C1S C1R
28 3mc syndrome 9.3 C4B C4A C1S C1R
29 angioedema 9.3 C4B C4A C1S C1R
30 complement deficiency 9.0 C4B C4A C2 C1S C1R
31 hemolytic uremic syndrome, atypical 1 9.0 C4B C4A C2 C1S C1R
32 macular degeneration, age-related, 1 9.0 C4B C4A C2 C1S C1R
33 glomerulonephritis 9.0 C4B C4A C1S C1QC C1QB C1QA
34 lupus erythematosus 8.4 C4B C4A C2 C1S C1R C1QC
35 systemic lupus erythematosus 8.4 C4B C4A C2 C1S C1R C1QC

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 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.08 C1QA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.08 C4A C4B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.08 C1QA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.08 C4A C4B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.08 C1QA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.08 C1QA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.08 C1QA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.08 C1QA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.08 C4A C4B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.08 C1QA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.08 C1QA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10.08 C1QA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.08 C4A C4B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.08 C4A C4B
15 Decreased viability GR00240-S-1 9.61 C1QA
16 Decreased viability GR00249-S 9.61 C2
17 Decreased viability GR00381-A-1 9.61 C1QA C2
18 Decreased viability GR00381-A-2 9.61 C1QA C2
19 Decreased viability GR00381-A-3 9.61 C1QA C2
20 Decreased viability GR00402-S-2 9.61 C1QA

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 C4B C4A C2 C1S C1R C1QC
2
Show member pathways
13.48 C4B C4A C2 C1S C1R C1QC
3
Show member pathways
13.45 C4B C4A C2 C1S C1R C1QC
4
Show member pathways
12.37 C1QC C1QB C1QA
5
Show member pathways
12.06 C4B C4A C2 C1S C1R C1QC
6 11.95 C4B C4A C2 C1S C1R C1QC
7
Show member pathways
11.92 C4B C4A C2 C1S C1R C1QC
8 11.8 C4B C4A C2 C1S C1R C1QC
9
Show member pathways
11.47 C4B C4A C2 C1S C1R C1QC
10 11.39 C4B C4A C2 C1S C1R C1QC

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 9.85 C4B C4A C2 C1S C1R C1QC
2 synapse GO:0045202 9.65 C4B C4A C1QC C1QB C1QA
3 collagen-containing extracellular matrix GO:0062023 9.61 C1QC C1QB C1QA
4 postsynapse GO:0098794 9.58 C1QC C1QB C1QA
5 extracellular region GO:0005576 9.56 C4B C4A C2 C1S C1R C1QC
6 collagen trimer GO:0005581 9.5 C1QC C1QB C1QA
7 complement component C1 complex GO:0005602 9.16 C1QB C1QA
8 blood microparticle GO:0072562 9.1 C4B C4A C1S C1R C1QC C1QB

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 immune system process GO:0002376 9.87 C4B C4A C2 C1S C1R C1QC
2 innate immune response GO:0045087 9.86 C4B C4A C2 C1S C1R C1QC
3 regulation of complement activation GO:0030449 9.76 C4B C4A C2 C1S C1R C1QC
4 synapse pruning GO:0098883 9.58 C1QC C1QB C1QA
5 complement activation, classical pathway GO:0006958 9.56 C4B C4A C2 C1S C1R C1QC
6 positive regulation of apoptotic cell clearance GO:2000427 9.54 C4B C4A C2
7 complement activation GO:0006956 9.23 C4B C4A C2 C1S C1R C1QC

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 peptidase activity GO:0008233 9.43 C2 C1S C1R
2 endopeptidase inhibitor activity GO:0004866 9.16 C4B C4A
3 serine-type endopeptidase activity GO:0004252 9.13 C2 C1S C1R
4 serine-type peptidase activity GO:0008236 8.8 C2 C1S C1R

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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....