MCID: CMP066
MIFTS: 17

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 43
C8 Deficiency 43

Classifications:



Summaries for Complement Component 8 Deficiency

MedlinePlus Genetics : 43 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.The severity of complement component 8 deficiency varies widely. While some people with this condition experience one or more infections, others do not have any health problems related to the disorder.There are two types of complement component 8 deficiency, types I and II, classified by their genetic cause. The two types have the same signs and symptoms.

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 Prion disease and Immune response Lectin induced complement pathway. Affiliated tissues include 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 complement component 8 deficiency, type ii 12.0
2 complement component 8 deficiency, type i 12.0
3 complement deficiency 10.1
4 complement component 7 deficiency 10.0
5 meningitis 10.0
6 mollaret meningitis 10.0
7 neisseria meningitidis infection 10.0
8 xeroderma pigmentosum, variant type 9.9
9 meningococcal infection 9.9
10 meningococcemia 9.9
11 immunodeficiency due to a late component of complement deficiency 9.5 C8B C8A

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:

40
Spinal Cord

Publications for Complement Component 8 Deficiency

Articles related to Complement Component 8 Deficiency:

(show all 33)
# Title Authors PMID Year
1
Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience. 61
30593745 2018
2
Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies. 61
29619023 2018
3
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis. 61
27183977 2016
4
A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 61
19434484 2009
5
[Complement protein hereditary deficits during purulent meningitis: study of 61 adult Tunisian patients]. 61
19388594 2006
6
Molecular, genetic, and functional analysis of homozygous C8 beta-chain deficiency in two siblings. 61
9476133 1997
7
[Homozygote CB deficiency revealed by recurrent Neisseria meningitidis infections in an adolescent]. 61
7842072 1994
8
Complement deficiency predisposes for meningitis due to nongroupable meningococci and Neisseria-related bacteria. 61
8075270 1994
9
[Complement deficiencies and meningococcal disease in The Netherlands]. 61
8316311 1993
10
Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families. 61
1396929 1992
11
Gene responsible for deficient activity of the beta subunit of C8, the eighth component of complement, is located on mouse chromosome 4. 61
1995474 1991
12
Two distinct abnormalities in patients with C8 alpha-gamma deficiency. Low level of C8 beta chain and presence of dysfunctional C8 alpha-gamma subunit. 61
2394837 1990
13
Comparison of isolates of Neisseria gonorrhoeae causing meningitis and report of gonococcal meningitis in a patient with C8 deficiency. 61
2473091 1989
14
Bactericidal capacity against Neisseria meningitidis of normal human serum and sera with functional deficiencies of the third and eight complement factor. 61
3113967 1987
15
Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews. 61
3685247 1987
16
Recurrent meningitis with familial C8 deficiency: case report. 61
3564650 1987
17
C8 beta subunit deficiency in a patient with recurrent neisserial infections. 61
3109005 1987
18
Dysfunctional C8 beta chain in patients with C8 deficiency. 61
3798025 1986
19
Complement C8 deficiency with recurrent meningococcemia: examination of meningococcal opsonization. 61
4062713 1985
20
Inherited C8 beta subunit deficiency in a patient with recurrent meningococcal infections: in vivo functional kinetic analysis of C8. 61
3924449 1985
21
Recurrent Neisseria meningitidis bacteremia. Association with deficiency of the eighth component of complement (C8) in a Sephardic Jewish family. 61
6732408 1984
22
Normal bactericidal capacity against Neisseria meningitidis in serum from a patient with a hemolytically inactive complement factor 8 (C8). 61
6424405 1983
23
[Recurrent meningococcal sepsis associated with congenital C8 deficiency: description of 2 families]. 61
6418993 1983
24
Relapsing Neisseria meningitidis infection associated with C8 deficiency. 61
6411408 1983
25
The normal occurrence of two molecular forms of the eight complement component (C8) and their concentrations in a family with C8 deficiency. 61
6409640 1983
26
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. 61
6822660 1983
27
Enhancement of granulocyte oxidative metabolism in sera from patients with C2 deficiency and systemic lupus erythematosus. 61
6307890 1983
28
Occurrence of an incomplete C8 molecule in homozygous C8 deficiency in man. 61
6795303 1981
29
Genetic control of the eighth component of complement. 61
468996 1979
30
Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. 61
109025 1979
31
C8 deficiency in a family with xeroderma pigmentosum. Lack of linkage to the HLA region. 61
144037 1977
32
Absence of the eighth component of complement in association with systemic lupus erythematosus-like disease. 61
893674 1977
33
Bactericidal and opsonic activity against Neisseria gonorrhoeae in sera from patients with disseminated gonococcal infection. 61
825581 1976

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 C8B C8A
2
Show member pathways
11.52 C8B C8A
3
Show member pathways
11.42 C8B C8A
4 11.32 C8B C8A
5 10.96 C8B C8A
6
Show member pathways
10.53 C8B C8A

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 C8B C8A

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.43 C8B C8A
2 innate immune response GO:0045087 9.4 C8B C8A
3 immune response GO:0006955 9.37 C8B C8A
4 complement activation, classical pathway GO:0006958 9.32 C8B C8A
5 regulation of complement activation GO:0030449 9.26 C8B C8A
6 complement activation GO:0006956 9.16 C8B C8A
7 cytolysis GO:0019835 8.96 C8B C8A
8 complement activation, alternative pathway GO:0006957 8.62 C8B C8A

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 C8B C8A

Sources for Complement Component 8 Deficiency

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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