C4BD
MCID: CMP094
MIFTS: 25

Complement Component 4b Deficiency (C4BD)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Complement Component 4b Deficiency

MalaCards integrated aliases for Complement Component 4b Deficiency:

Name: Complement Component 4b Deficiency 57 12 72 29 6 39
C4b Deficiency 57 72 13
C4bd 57 72
Decreased Serum Complement C4b 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0060298
OMIM® 57 614379
MeSH 44 D007105
ICD10 32 D84.1
MedGen 41 C3280641
SNOMED-CT via HPO 68 197284004 7180009
UMLS 70 C3280641

Summaries for Complement Component 4b Deficiency

UniProtKB/Swiss-Prot : 72 Complement component 4B deficiency: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis.

MalaCards based summary : Complement Component 4b Deficiency, also known as c4b deficiency, is related to lupus erythematosus and systemic lupus erythematosus. An important gene associated with Complement Component 4b Deficiency is C4B (Complement C4B (Chido Blood Group)), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Related phenotypes are meningitis and chronic active hepatitis

Disease Ontology : 12 A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency.

Wikipedia : 73 Complement component 4B (Chido blood group) is a protein that in humans is encoded by the C4B... more...

More information from OMIM: 614379

Related Diseases for Complement Component 4b Deficiency

Graphical network of the top 20 diseases related to Complement Component 4b Deficiency:



Diseases related to Complement Component 4b Deficiency

Symptoms & Phenotypes for Complement Component 4b Deficiency

Human phenotypes related to Complement Component 4b Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 meningitis 31 HP:0001287
2 chronic active hepatitis 31 HP:0200120
3 decreased serum complement c4b 31 HP:0045044

Clinical features from OMIM®:

614379 (Updated 20-May-2021)

Drugs & Therapeutics for Complement Component 4b Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component 4b Deficiency

Genetic Tests for Complement Component 4b Deficiency

Genetic tests related to Complement Component 4b Deficiency:

# Genetic test Affiliating Genes
1 Complement Component 4b Deficiency 29 C4B

Anatomical Context for Complement Component 4b Deficiency

Publications for Complement Component 4b Deficiency

Articles related to Complement Component 4b Deficiency:

(show all 11)
# Title Authors PMID Year
1
Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. 57
22387014 2012
2
A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype. 57
1401055 1992
3
Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. 57
2384609 1990
4
Renal disease in a patient with hereditary complete deficiency of the fourth component of complement. 57
2243578 1990
5
Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis. 57
2551816 1989
6
Complete C4B deficiency in black Americans with systemic lupus erythematosus. 57
3265961 1988
7
C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes. 57
3260957 1988
8
A high frequency of inherited deficiency of complement component C4 in Darwin Aborigines. 57
3501712 1987
9
Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis. 57
2862466 1985
10
Genetic analysis of C4 deficiency. 57
7451653 1981
11
The excessive complement activation in fulminant meningococcal septicemia is predominantly caused by alternative pathway activation. 61
8627028 1996

Variations for Complement Component 4b Deficiency

ClinVar genetic disease variations for Complement Component 4b Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C4B NM_001002029.3:c.(?_3231)_(3387_?)del Deletion Pathogenic 987922 GRCh37:
GRCh38:
2 C4B NM_001002029.4(C4B):c.3694_3695dup (p.Val1233fs) Duplication Pathogenic 997505 GRCh37: 6:31997358-31997359
GRCh38: 6:32029581-32029582
3 C4B NM_001002029.4(C4B):c.723dup (p.Glu242Ter) Duplication Pathogenic 998358 GRCh37: 6:31984363-31984364
GRCh38: 6:32016586-32016587
4 C4B NM_001002029.4(C4B):c.3442G>A (p.Ala1148Thr) SNV Uncertain significance 1034339 GRCh37: 6:31996776-31996776
GRCh38: 6:32028999-32028999

Expression for Complement Component 4b Deficiency

Search GEO for disease gene expression data for Complement Component 4b Deficiency.

Pathways for Complement Component 4b Deficiency

Pathways related to Complement Component 4b Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.15 C4B_2 C4B
2
Show member pathways
10.78 C4B_2 C4B

GO Terms for Complement Component 4b Deficiency

Sources for Complement Component 4b 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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