MCID: CMP066
MIFTS: 14

Complement Component 8 Deficiency

Aliases & Classifications for Complement Component 8 Deficiency

MalaCards integrated aliases for Complement Component 8 Deficiency:

Name: Complement Component 8 Deficiency 25
C8 Deficiency 25

Summaries for Complement Component 8 Deficiency

Genetics Home Reference : 25 Complement component 8 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria. People with complement component 8 deficiency have a significantly increased risk of recurrent bacterial infections, particularly by a bacterium called Neisseria meningitidis. Infection by this bacterium causes inflammation of the membranes surrounding the brain and spinal cord (meningitis). Although meningitis can be life-threatening, individuals with complement component 8 deficiency are less likely to die from the infection than people in the general population who contract it.

MalaCards based summary : Complement Component 8 Deficiency, also known as c8 deficiency, is related to c8 deficiency, type i and c8 deficiency, type ii. An important gene associated with Complement Component 8 Deficiency is C8A (Complement C8 Alpha Chain), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include spinal cord and brain.

Related Diseases for Complement Component 8 Deficiency

Diseases related to Complement Component 8 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 c8 deficiency, type i 11.9
2 c8 deficiency, type ii 11.9
3 autosomal thrombocytopenia with normal platelets 9.5 C8A C8B
4 critical congenital heart disease 9.2 C8A C8B

Symptoms & Phenotypes for Complement Component 8 Deficiency

Drugs & Therapeutics for Complement Component 8 Deficiency

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Efferocytosis and Genomic Polymorphism in Autoimmune Diseases Unknown status NCT00364728

Search NIH Clinical Center for Complement Component 8 Deficiency

Genetic Tests for Complement Component 8 Deficiency

Anatomical Context for Complement Component 8 Deficiency

MalaCards organs/tissues related to Complement Component 8 Deficiency:

39
Spinal Cord, Brain

Publications for Complement Component 8 Deficiency

Variations for Complement Component 8 Deficiency

Expression for Complement Component 8 Deficiency

Search GEO for disease gene expression data for Complement Component 8 Deficiency.

Pathways for Complement Component 8 Deficiency

GO Terms for Complement Component 8 Deficiency

Cellular components related to Complement Component 8 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane attack complex GO:0005579 8.62 C8A C8B

Biological processes related to Complement Component 8 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.4 C8A C8B
2 immune response GO:0006955 9.37 C8A C8B
3 complement activation, classical pathway GO:0006958 9.32 C8A C8B
4 regulation of complement activation GO:0030449 9.26 C8A C8B
5 complement activation GO:0006956 9.16 C8A C8B
6 cytolysis GO:0019835 8.96 C8A C8B
7 complement activation, alternative pathway GO:0006957 8.62 C8A C8B

Molecular functions related to Complement Component 8 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 8.62 C8A C8B

Sources for Complement Component 8 Deficiency

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
46 NCI
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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