MCID: CMP092
MIFTS: 20

Complement Component 8 Deficiency, Type Ii

Categories: Genetic diseases, Rare diseases, Immune 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 73
Complement Component 8 Deficiency Type 2 53 29 6
C8 Beta Deficiency 57 53 75
Complement Component 8 Deficiency Type Ii 53 75
C8 Deficiency, Type Ii 57 13
C8 Deficiency Type Ii 53 75
C8d2 57 75
Type Ii Complement Component 8 Deficiency 12
Complement Component 8 Deficiency, Type 2 40
Complement Component 8 Deficiency, 2 75
Human Complement C8-Beta Deficiency 53
Complement Component 8b Deficiency 57
Complement C8b Deficiency 75
C8b Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
complement component 8 deficiency, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613789
Disease Ontology 12 DOID:0060302
ICD10 33 D84.1
MedGen 42 C3151080
MeSH 44 D007154
SNOMED-CT via HPO 69 258211005 7180009
UMLS 73 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)

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
meningitis

Immunology:
c8 deficiency
recurrent neisserial infections
antigenically defective c8 detected


Clinical features from OMIM:

613789

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

32
# Description HPO Frequency HPO Source Accession
1 meningitis 32 HP:0001287
2 c8 deficiency 32 HP:0004434
3 recurrent neisserial infections 32 HP:0005430

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 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:

# Title Authors Year
1
Detection of heterozygous C8 beta deficiency by PCR in a healthy Italian population. ( 9165271 )
1996
2
Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. ( 7594510 )
1995
3
Polymorphism of the complement C8A and -B genes in two families with C8 beta deficiency and neisserial infections. ( 8020197 )
1994
4
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 14)
# 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.820C> T (p.Arg274Ter) single nucleotide variant Pathogenic rs140813121 GRCh37 Chromosome 1, 57415272: 57415272
4 C8B NM_000066.3(C8B): c.820C> T (p.Arg274Ter) single nucleotide variant Pathogenic rs140813121 GRCh38 Chromosome 1, 56949599: 56949599
5 C8B NM_000066.3(C8B): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs150022116 GRCh37 Chromosome 1, 57422472: 57422472
6 C8B NM_000066.3(C8B): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs150022116 GRCh38 Chromosome 1, 56956799: 56956799
7 C8B NM_000066.3(C8B): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs146187042 GRCh37 Chromosome 1, 57422562: 57422562
8 C8B NM_000066.3(C8B): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs146187042 GRCh38 Chromosome 1, 56956889: 56956889
9 C8B NM_000066.3(C8B): c.336delC (p.Asn113Thrfs) deletion Pathogenic rs372968576 GRCh37 Chromosome 1, 57422497: 57422497
10 C8B NM_000066.3(C8B): c.336delC (p.Asn113Thrfs) deletion Pathogenic rs372968576 GRCh38 Chromosome 1, 56956824: 56956824
11 C8B NM_000066.3(C8B): c.605delC (p.Pro202Argfs) deletion Pathogenic rs398122867 GRCh37 Chromosome 1, 57417782: 57417782
12 C8B NM_000066.3(C8B): c.605delC (p.Pro202Argfs) deletion Pathogenic rs398122867 GRCh38 Chromosome 1, 56952109: 56952109
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

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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