C4BD
MCID: CMP094
MIFTS: 22

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 58 12 76 41
C4b Deficiency 58 76 13
C4bd 58 76
Decreased Serum Complement C4b 74
Complement Component-4b 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0060298
OMIM 58 614379
MeSH 45 D007105
ICD10 34 D84.1
MedGen 43 C3280641
SNOMED-CT via HPO 70 197284004 7180009
UMLS 74 C3280641

Summaries for Complement Component 4b Deficiency

UniProtKB/Swiss-Prot : 76 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 Creation of C4 and C2 activators and Immune response Lectin induced complement pathway. 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.

Description from OMIM: 614379

Related Diseases for Complement Component 4b Deficiency

Diseases related to Complement Component 4b Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 29.7 C4B C4B_2
2 systemic lupus erythematosus 29.5 C4B C4B_2
3 glomerulonephritis 10.2
4 iga glomerulonephritis 10.1
5 meningitis 10.1
6 rheumatoid arthritis 9.9
7 schizophrenia 9.9
8 retinitis pigmentosa 2 9.9
9 arthritis 9.9
10 henoch-schoenlein purpura 9.9
11 membranoproliferative glomerulonephritis 9.9
12 purpura 9.9
13 immune-complex glomerulonephritis 9.9
14 bacterial meningitis 9.9
15 meningococcemia 9.9
16 neisseria meningitidis infection 9.9

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:

33
# Description HPO Frequency HPO Source Accession
1 meningitis 33 HP:0001287
2 chronic active hepatitis 33 HP:0200120
3 decreased serum complement c4b 33 HP:0045044

Clinical features from OMIM:

614379

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

Anatomical Context for Complement Component 4b Deficiency

Publications for Complement Component 4b Deficiency

Articles related to Complement Component 4b Deficiency:

(show all 17)
# Title Authors Year
1
Clinical features of patients with homozygous complement C4A or C4B deficiency. ( 29928053 )
2018
2
Increased frequency of complement C4B deficiency in rheumatoid arthritis. ( 22076784 )
2012
3
Familial C4B deficiency and immune complex glomerulonephritis. ( 20580617 )
2010
4
C4B deficiency associated with membranoproliferative glomerulonephritis. ( 17541232 )
2007
5
Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections. ( 12626442 )
2003
6
Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections. ( 10439316 )
1999
7
Investigation of complement C4B deficiency in schizophrenia. ( 9358016 )
1997
8
Association of C4B deficiency (C4B*Q0) with erythema nodosum in leprosy. ( 8485914 )
1993
9
C4B deficiency is not associated with meningitis or bacteremia with encapsulated bacteria. ( 1569346 )
1992
10
Prevalence of homozygous C4B deficiency in patients with deficiencies of terminal complement components and meningococcemia. ( 2230255 )
1990
11
C4B deficiency in two siblings with IgA nephropathy. ( 2294735 )
1990
12
Association of Henoch-Schönlein purpura glomerulonephritis with C4B deficiency. ( 2231209 )
1990
13
C4B deficiency: a risk factor for bacteremia with encapsulated organisms. ( 2355198 )
1990
14
Association of homozygous C4B deficiency with bacterial meningitis. ( 2788199 )
1989
15
Molecular genetics of C4B deficiency in IgA nephropathy. ( 2573592 )
1989
16
Complete C4B deficiency in black Americans with systemic lupus erythematosus. ( 3265961 )
1988
17
Combined familial C7 and C4B deficiency in an adult with meningococcal disease. ( 3497744 )
1987

Variations for Complement Component 4b Deficiency

Expression for Complement Component 4b Deficiency

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

Pathways for Complement Component 4b Deficiency

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
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
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