MCID: CMP066
MIFTS: 20

Complement Component 8 Deficiency

Categories: Neuronal diseases

Aliases & Classifications for Complement Component 8 Deficiency

MalaCards integrated aliases for Complement Component 8 Deficiency:

Name: Complement Component 8 Deficiency 26
C8 Deficiency 26

Classifications:



Summaries for Complement Component 8 Deficiency

Genetics Home Reference : 26 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 complement component 8 deficiency, type ii and complement component 8 deficiency, type i. An important gene associated with Complement Component 8 Deficiency is C8B (Complement C8 Beta Chain), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include brain and spinal cord.

Related Diseases for Complement Component 8 Deficiency

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

# Related Disease Score Top Affiliating Genes
1 complement component 8 deficiency, type ii 12.8
2 complement component 8 deficiency, type i 12.8
3 meningitis 10.1
4 xeroderma pigmentosum, variant type 9.9
5 meningococcal infection 9.9
6 meningococcemia 9.9
7 neisseria meningitidis infection 9.9
8 immunodeficiency due to a late component of complement deficiency 9.5 C8A C8B

Graphical network of the top 20 diseases related to Complement Component 8 Deficiency:



Diseases related to Complement Component 8 Deficiency

Symptoms & Phenotypes for Complement Component 8 Deficiency

Drugs & Therapeutics for Complement Component 8 Deficiency

Search Clinical Trials , 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:

42
Brain, Spinal Cord

Publications for Complement Component 8 Deficiency

Articles related to Complement Component 8 Deficiency:

(show all 11)
# Title Authors Year
1
Comparison of isolates of Neisseria gonorrhoeae causing meningitis and report of gonococcal meningitis in a patient with C8 deficiency. ( 2473091 )
1989
2
Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews. ( 3685247 )
1987
3
Recurrent meningitis with familial C8 deficiency: case report. ( 3564650 )
1987
4
Dysfunctional C8 beta chain in patients with C8 deficiency. ( 3798025 )
1986
5
Complement C8 deficiency with recurrent meningococcemia: examination of meningococcal opsonization. ( 4062713 )
1985
6
Relapsing Neisseria meningitidis infection associated with C8 deficiency. ( 6411408 )
1983
7
The normal occurrence of two molecular forms of the eight complement component (C8) and their concentrations in a family with C8 deficiency. ( 6409640 )
1983
8
Two types of dysfunctional eighth component of complement (C8) molecules in C8 deficiency in man. Reconstitution of normal C8 from the mixture of two abnormal C8 molecules. ( 6822660 )
1983
9
Occurrence of an incomplete C8 molecule in homozygous C8 deficiency in man. ( 6795303 )
1981
10
Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. ( 109025 )
1979
11
C8 deficiency in a family with xeroderma pigmentosum. Lack of linkage to the HLA region. ( 144037 )
1977

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:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.62 C8A C8B

Sources for Complement Component 8 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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