C8D2
MCID: CMP092
MIFTS: 20

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 58 74
Complement Component 8 Deficiency Type 2 54 30 6
C8 Beta Deficiency 58 54 76
Complement Component 8 Deficiency Type Ii 54 76
C8 Deficiency, Type Ii 58 13
C8 Deficiency Type Ii 54 76
C8d2 58 76
Type Ii Complement Component 8 Deficiency 12
Complement Component 8 Deficiency, Type 2 41
Complement Component 8 Deficiency, 2 76
Human Complement C8-Beta Deficiency 54
Complement Component 8b Deficiency 58
Complement C8b Deficiency 76
C8b Deficiency 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
complement component 8 deficiency, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060302
OMIM 58 613789
MeSH 45 D007154
ICD10 34 D84.1
MedGen 43 C3151080
SNOMED-CT via HPO 70 258211005 7180009
UMLS 74 C3151080

Summaries for Complement Component 8 Deficiency, Type Ii

OMIM : 58 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)

MalaCards based summary : Complement Component 8 Deficiency, Type Ii, is also known as complement component 8 deficiency type 2. An important gene associated with Complement Component 8 Deficiency, Type Ii is C8B (Complement C8 Beta Chain). Related phenotypes are meningitis and c8 deficiency

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 : 76 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

Symptoms & Phenotypes for Complement Component 8 Deficiency, Type Ii

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

33
# Description HPO Frequency HPO Source Accession
1 meningitis 33 HP:0001287
2 c8 deficiency 33 HP:0004434
3 recurrent neisserial infections 33 HP:0005430

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
meningitis

Immunology:
c8 deficiency
recurrent neisserial infections
antigenically defective c8 detected

Clinical features from OMIM:

613789

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 Complement Component 8 Deficiency Type 2 30 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:

# Title Authors Year
1
A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. ( 19434484 )
2009
2
[Further study on heterogeneic basis of complement C8 beta deficiency]. ( 14767900 )
2004
3
Detection of heterozygous C8 beta deficiency by PCR in a healthy Italian population. ( 9165271 )
1996
4
Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. ( 7594510 )
1995
5
Polymorphism of the complement C8A and -B genes in two families with C8 beta deficiency and neisserial infections. ( 8020197 )
1994
6
Genetic basis of human complement C8 beta deficiency. ( 8098723 )
1993

Variations for Complement Component 8 Deficiency, Type Ii

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 C8B NM_000066.3(C8B): c.1282C> T (p.Arg428Ter) single nucleotide variant Pathogenic rs41286844 GRCh37 Chromosome 1, 57406638: 57406638
2 C8B NM_000066.3(C8B): c.1282C> T (p.Arg428Ter) single nucleotide variant Pathogenic rs41286844 GRCh38 Chromosome 1, 56940965: 56940965
3 C8B NM_000066.3(C8B): c.605delC (p.Pro202Argfs) deletion Pathogenic rs398122867 GRCh37 Chromosome 1, 57417782: 57417782
4 C8B NM_000066.3(C8B): c.605delC (p.Pro202Argfs) deletion Pathogenic rs398122867 GRCh38 Chromosome 1, 56952109: 56952109
5 C8B NM_000066.3(C8B): c.820C> T (p.Arg274Ter) single nucleotide variant Pathogenic rs140813121 GRCh37 Chromosome 1, 57415272: 57415272
6 C8B NM_000066.3(C8B): c.820C> T (p.Arg274Ter) single nucleotide variant Pathogenic rs140813121 GRCh38 Chromosome 1, 56949599: 56949599
7 C8B NM_000066.3(C8B): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs150022116 GRCh37 Chromosome 1, 57422472: 57422472
8 C8B NM_000066.3(C8B): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs150022116 GRCh38 Chromosome 1, 56956799: 56956799
9 C8B NM_000066.3(C8B): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs146187042 GRCh37 Chromosome 1, 57422562: 57422562
10 C8B NM_000066.3(C8B): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs146187042 GRCh38 Chromosome 1, 56956889: 56956889
11 C8B NM_000066.3(C8B): c.336delC (p.Asn113Thrfs) deletion Pathogenic rs372968576 GRCh37 Chromosome 1, 57422497: 57422497
12 C8B NM_000066.3(C8B): c.336delC (p.Asn113Thrfs) deletion Pathogenic rs372968576 GRCh38 Chromosome 1, 56956824: 56956824
13 C8B NM_000066.3(C8B): c.1041_1047dupGGCTGTG (p.Leu350Glyfs) duplication Pathogenic rs398122868 GRCh37 Chromosome 1, 57411552: 57411558
14 C8B NM_000066.3(C8B): c.1041_1047dupGGCTGTG (p.Leu350Glyfs) duplication Pathogenic rs398122868 GRCh38 Chromosome 1, 56945879: 56945885
15 C8B NM_000066.3(C8B): c.1653G> A (p.Trp551Ter) single nucleotide variant Uncertain significance rs752357132 GRCh38 Chromosome 1, 56929527: 56929527
16 C8B NM_000066.3(C8B): c.1653G> A (p.Trp551Ter) single nucleotide variant Uncertain significance rs752357132 GRCh37 Chromosome 1, 57395200: 57395200

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
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
Content
Loading form....