C4AD
MCID: C4D002
MIFTS: 30

C4a Deficiency (C4AD) malady

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for C4a Deficiency

Aliases & Descriptions for C4a Deficiency:

Name: C4a Deficiency 54 66 13
Complement Component 4a Deficiency 12 66 29 69
Complement Component-4a 13
C4ad 66

Characteristics:

HPO:

32
c4a deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614380
Disease Ontology 12 DOID:0060297
ICD10 33 D84.1
MedGen 40 C3280642
MeSH 42 D007105

Summaries for C4a Deficiency

UniProtKB/Swiss-Prot : 66 Complement component 4A 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 : C4a Deficiency, also known as complement component 4a deficiency, is related to systemic lupus erythematosus and lupus erythematosus, and has symptoms including vasculitis, cutaneous photosensitivity and systemic lupus erythematosus. An important gene associated with C4a Deficiency is C4A (Complement C4A (Rodgers Blood Group)), and among its related pathways/superpathways are Allograft rejection and Toxoplasmosis. Related phenotype is Increased shRNA abundance (Z-score > 2).

Description from OMIM: 614380

Related Diseases for C4a Deficiency

Diseases related to C4a Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
id Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 10.1
2 lupus erythematosus 10.1
3 cyclotropia 9.8 C3 C4A
4 x-linked dominant intellectual disability-epilepsy syndrome 9.8 C3 C4A
5 dermatomycosis 9.8 C3 C4A
6 malignant acth producing neoplasm of pituitary gland 9.8 C3 C4A
7 hepatitis 9.7
8 hepatitis b 9.7
9 dermatomyositis 9.7
10 bronchiolitis 9.7 C3 C4A
11 hemochromatosis 9.7 C3 C4A HLA-DRB1
12 chorioretinitis 9.7 C3 C4A HLA-DRB1
13 cousin syndrome 9.6 C3 C4A HLA-DRB1

Graphical network of the top 20 diseases related to C4a Deficiency:



Diseases related to C4a Deficiency

Symptoms & Phenotypes for C4a Deficiency

Symptoms by clinical synopsis from OMIM:

614380

Clinical features from OMIM:

614380

Human phenotypes related to C4a Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 vasculitis 32 HP:0002633
2 cutaneous photosensitivity 32 HP:0000992
3 systemic lupus erythematosus 32 HP:0002725
4 complement deficiency 32 HP:0004431
5 glomerulonephritis 32 HP:0000099

GenomeRNAi Phenotypes related to C4a Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.53 C4A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.53 C4A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.53 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.53 HLA-DRB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.53 C4A HLA-DRB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.53 C4A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.53 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.53 HLA-DRB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.53 HLA-DRB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.53 C4A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.53 HLA-DRB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 C4A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 C4A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.53 C4A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.53 HLA-DRB1

Drugs & Therapeutics for C4a Deficiency

Search Clinical Trials , NIH Clinical Center for C4a Deficiency

Genetic Tests for C4a Deficiency

Genetic tests related to C4a Deficiency:

id Genetic test Affiliating Genes
1 Complement Component 4a Deficiency 29

Anatomical Context for C4a Deficiency

Publications for C4a Deficiency

Articles related to C4a Deficiency:

(show all 14)
id Title Authors Year
1
Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. ( 26493816 )
2015
2
C4A deficiency in children and adolescents with recurrent respiratory infections. ( 22406254 )
2012
3
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. ( 12175637 )
2002
4
C4A deficiency and elevated level of immune complexes: the mechanism behind increased susceptibility to systemic lupus erythematosus. ( 12415592 )
2002
5
C4A deficiency and nonresponse to hepatitis B vaccination. ( 12175635 )
2002
6
C4A deficiency due to a 2 bp insertion is increased in patients with systemic lupus erythematosus. ( 10529130 )
1999
7
C4 phenotypes in IgA nephropathy: disease progression associated with C4A deficiency but not with C4 isotype concentrations. ( 8706353 )
1996
8
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. ( 8473511 )
1993
9
Clinical expression of systemic lupus erythematosus in patients with C4A deficiency. ( 8341140 )
1993
10
C4A deficiency and poor prognosis in patients with IgA nephropathy. ( 1889146 )
1991
11
DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus. ( 2044237 )
1991
12
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. ( 1976809 )
1990
13
Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. ( 2289315 )
1990
14
Partial C4A deficiency is associated with susceptibility to systemic lupus erythematosus in black Americans. ( 3262348 )
1988

Variations for C4a Deficiency

ClinVar genetic disease variations for C4a Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 C4A C4A, 2-BP INS, EX29 insertion Pathogenic

Expression for C4a Deficiency

Search GEO for disease gene expression data for C4a Deficiency.

Pathways for C4a Deficiency

Pathways related to C4a Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 C3 C4A HLA-DRB1
2
Show member pathways
11.75 C3 HLA-DRB1
3 11.71 C3 HLA-DRB1
4 11.61 C3 HLA-DRB1
5
Show member pathways
11.57 C3 C4A
6 11.51 C3 C4A
7
Show member pathways
11.45 C3 C4A
8
Show member pathways
11.28 C3 C4A
9 11.04 C3 C4A
10 10.55 C3 C4A HLA-DRB1

GO Terms for C4a Deficiency

Cellular components related to C4a Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.96 C3 C4A
2 blood microparticle GO:0072562 8.62 C3 C4A

Biological processes related to C4a Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.46 C3 C4A
2 post-translational protein modification GO:0043687 9.43 C3 C4A
3 cellular protein metabolic process GO:0044267 9.4 C3 C4A
4 complement activation, classical pathway GO:0006958 9.37 C3 C4A
5 negative regulation of endopeptidase activity GO:0010951 9.32 C3 C4A
6 regulation of complement activation GO:0030449 9.26 C3 C4A
7 complement activation GO:0006956 9.16 C3 C4A
8 immune system process GO:0002376 9.13 C3 C4A HLA-DRB1
9 positive regulation of apoptotic cell clearance GO:2000427 8.62 C3 C4A

Molecular functions related to C4a Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 C3 C4A
2 endopeptidase inhibitor activity GO:0004866 8.62 C3 C4A

Sources for C4a Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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