C8D2
MCID: CMP092
MIFTS: 24

Complement Component 8 Deficiency, Type Ii (C8D2)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Complement Component 8 Deficiency, Type Ii

MalaCards integrated aliases for Complement Component 8 Deficiency, Type Ii:

Name: Complement Component 8 Deficiency, Type Ii 57 70
Type Ii Complement Component 8 Deficiency 12 29 6
C8 Beta Deficiency 57 20 72
Complement Component 8 Deficiency Type Ii 20 72
C8 Deficiency, Type Ii 57 13
C8 Deficiency Type Ii 20 72
C8d2 57 72
Complement Component 8 Deficiency, Type 2 39
Complement Component 8 Deficiency Type 2 20
Complement Component 8 Deficiency, 2 72
Human Complement C8-Beta Deficiency 20
Complement Component 8b Deficiency 57
Complement C8b Deficiency 72
C8b Deficiency 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
complement component 8 deficiency, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060302
OMIM® 57 613789
MeSH 44 D007154
ICD10 32 D84.1
MedGen 41 C3151080
SNOMED-CT via HPO 68 258211005 7180009
UMLS 70 C3151080

Summaries for Complement Component 8 Deficiency, Type Ii

OMIM® : 57 Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984). Two types of inherited C8 deficiency have been reported in man: type I (613790), in which only C8 alpha (C8A, 120950) and C8 gamma (C8G; 120930) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984). (613789) (Updated 05-Apr-2021)

MalaCards based summary : Complement Component 8 Deficiency, Type Ii, also known as type ii complement component 8 deficiency, is related to complement component 6 deficiency and complement deficiency. An important gene associated with Complement Component 8 Deficiency, Type Ii is C8B (Complement C8 Beta Chain). Related phenotypes are meningitis and decreased serum complement c8

Disease Ontology : 12 A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has material basis in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.

UniProtKB/Swiss-Prot : 72 Complement component 8 deficiency, 2: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

Related Diseases for Complement Component 8 Deficiency, Type Ii

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

# Related Disease Score Top Affiliating Genes
1 complement component 6 deficiency 10.2
2 complement deficiency 10.0
3 neisseria meningitidis infection 10.0

Symptoms & Phenotypes for Complement Component 8 Deficiency, Type Ii

Human phenotypes related to Complement Component 8 Deficiency, Type Ii:

31
# Description HPO Frequency HPO Source Accession
1 meningitis 31 HP:0001287
2 decreased serum complement c8 31 HP:0004434
3 recurrent neisserial infections 31 HP:0005430

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
meningitis

Immunology:
recurrent neisserial infections
c8 deficiency
antigenically defective c8 detected

Clinical features from OMIM®:

613789 (Updated 05-Apr-2021)

Drugs & Therapeutics for Complement Component 8 Deficiency, Type Ii

Search Clinical Trials , NIH Clinical Center for Complement Component 8 Deficiency, Type Ii

Genetic Tests for Complement Component 8 Deficiency, Type Ii

Genetic tests related to Complement Component 8 Deficiency, Type Ii:

# Genetic test Affiliating Genes
1 Type Ii Complement Component 8 Deficiency 29 C8B

Anatomical Context for Complement Component 8 Deficiency, Type Ii

Publications for Complement Component 8 Deficiency, Type Ii

Articles related to Complement Component 8 Deficiency, Type Ii:

(show all 16)
# Title Authors PMID Year
1
Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. 6 61 57
7594510 1995
2
Genetic basis of human complement C8 beta deficiency. 6 57 61
8098723 1993
3
[Further study on heterogeneic basis of complement C8 beta deficiency]. 6 61
14767900 2004
4
Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. 61 57
7980680 1994
5
A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 6
19434484 2009
6
Gene responsible for deficient activity of the beta subunit of C8, the eighth component of complement, is located on mouse chromosome 4. 57
1995474 1991
7
Two distinct abnormalities in patients with C8 alpha-gamma deficiency. Low level of C8 beta chain and presence of dysfunctional C8 alpha-gamma subunit. 57
2394837 1990
8
Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. 57
6433145 1984
9
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. 57
6822660 1983
10
Genetic control of the eighth component of complement. 57
468996 1979
11
Detection of heterozygous C8 beta deficiency by PCR in a healthy Italian population. 61
9165271 1996
12
Polymorphism of the complement C8A and -B genes in two families with C8 beta deficiency and neisserial infections. 61
8020197 1994
13
Reduced C8 beta messenger RNA expression in families with hereditary C8 beta deficiency. 61
1988493 1991
14
Identification of the heterozygotes for deficiency of the beta-subunit of the eighth component of complement by reduced levels of C8 beta and increased amounts of free C8 alpha-gamma. 61
2320389 1990
15
Deficiency of the eighth component of complement. Evidence for linkage of C8 alpha-gamma pattern with C8 beta deficiency in sera of twelve patients. 61
2667094 1989
16
Dysfunctional C8 beta chain in patients with C8 deficiency. 61
3798025 1986

Variations for Complement Component 8 Deficiency, Type Ii

ClinVar genetic disease variations for Complement Component 8 Deficiency, Type Ii:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C8B NM_000066.4(C8B):c.820C>T (p.Arg274Ter) SNV Pathogenic 35592 rs140813121 GRCh37: 1:57415272-57415272
GRCh38: 1:56949599-56949599
2 C8B NM_000066.4(C8B):c.361C>T (p.Arg121Ter) SNV Pathogenic 35593 rs150022116 GRCh37: 1:57422472-57422472
GRCh38: 1:56956799-56956799
3 C8B NM_000066.4(C8B):c.271C>T (p.Gln91Ter) SNV Pathogenic 35594 rs146187042 GRCh37: 1:57422562-57422562
GRCh38: 1:56956889-56956889
4 C8B NM_000066.4(C8B):c.336del (p.Asn113fs) Deletion Pathogenic 35595 rs372968576 GRCh37: 1:57422497-57422497
GRCh38: 1:56956824-56956824
5 C8B NM_000066.4(C8B):c.605del (p.Pro202fs) Deletion Pathogenic 35596 rs398122867 GRCh37: 1:57417782-57417782
GRCh38: 1:56952109-56952109
6 C8B NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs) Duplication Pathogenic 35597 rs398122868 GRCh37: 1:57411551-57411552
GRCh38: 1:56945878-56945879
7 C8B NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) SNV Pathogenic 17038 rs41286844 GRCh37: 1:57406638-57406638
GRCh38: 1:56940965-56940965
8 C8B NM_000066.4(C8B):c.27G>A (p.Trp9Ter) SNV Pathogenic 1032165 GRCh37: 1:57431595-57431595
GRCh38: 1:56965922-56965922
9 C8B NM_000066.4(C8B):c.1653G>A (p.Trp551Ter) SNV Uncertain significance 559594 rs752357132 GRCh37: 1:57395200-57395200
GRCh38: 1:56929527-56929527
10 C8B NM_000066.4(C8B):c.164G>A (p.Ser55Asn) SNV Uncertain significance 827970 rs144586148 GRCh37: 1:57425778-57425778
GRCh38: 1:56960105-56960105
11 C8B NM_000066.4(C8B):c.967C>T (p.Arg323Trp) SNV Uncertain significance 827971 rs141295453 GRCh37: 1:57411632-57411632
GRCh38: 1:56945959-56945959

Expression for Complement Component 8 Deficiency, Type Ii

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

Pathways for Complement Component 8 Deficiency, Type Ii

GO Terms for Complement Component 8 Deficiency, Type Ii

Sources for Complement Component 8 Deficiency, Type Ii

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
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