Aliases & Classifications for C4a Deficiency

MalaCards integrated aliases for C4a Deficiency:

Name: C4a Deficiency 54 71 13
Complement Component 4a Deficiency 12 71 69
Complement Component-4a 13
C4ad 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
two loci control synthesis of c4, c4a and c4b
patients with total c4 deficiency are homozygous for double null c4 haplotype
prevalence of homozygous c4a deficiency in sle 10-15x higher than general population


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 : 71 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 systemic lupus erythematosus, glomerulonephritis and vasculitis. An important gene associated with C4a Deficiency is C4A (Complement C4A (Rodgers Blood Group)), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Allograft rejection. Affiliated tissues include skin, and related phenotype is Increased shRNA abundance (Z-score > 2).

Description from OMIM: 614380

Related Diseases for C4a Deficiency

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



Diseases related to C4a Deficiency

Symptoms & Phenotypes for C4a Deficiency

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
glomerulonephritis

Immunology:
systemic lupus erythematosus
dermatomyositis
anaphylactoid purpura
vasculitis

Skin Nails & Hair- Skin:
photosensitive skin rashes

Laboratory- Abnormalities:
absent ch50 activity in complete c4 deficiency


Clinical features from OMIM:

614380

Human phenotypes related to C4a Deficiency:

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

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 10.27 C4B C4A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.27 C4A C4B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.27 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.27 HLA-DRB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.27 C4B C4A HLA-DRB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.27 C4B C4A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.27 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.27 HLA-DRB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.27 HLA-DRB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.27 C4B C4A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.27 HLA-DRB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.27 C4B C4A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.27 C4B C4A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.27 C4A C4B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.27 HLA-DRB1

Drugs & Therapeutics for C4a Deficiency

Search Clinical Trials , NIH Clinical Center for C4a Deficiency

Genetic Tests for C4a Deficiency

Anatomical Context for C4a Deficiency

MalaCards organs/tissues related to C4a Deficiency:

39
Skin

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
C4A deficiency and elevated level of immune complexes: the mechanism behind increased susceptibility to systemic lupus erythematosus. ( 12415592 )
2002
4
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. ( 12175637 )
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
Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. ( 2289315 )
1990
13
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. ( 1976809 )
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:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 C3 C4A C4B HLA-DRB1
2
Show member pathways
12.32 C3 C4A HLA-DRB1
3
Show member pathways
11.78 C3 HLA-DRB1
4 11.75 C3 HLA-DRB1
5
Show member pathways
11.71 C3 C4A C4B
6 11.69 C4A C4B
7 11.64 C3 HLA-DRB1
8 11.64 C3 C4A C4B
9
Show member pathways
11.56 C3 C4A C4B
10
Show member pathways
11.36 C3 C4A C4B
11 11.01 C3 C4A C4B
12 10.67 C3 C4A C4B 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 extracellular exosome GO:0070062 9.26 C3 C4A C4B HLA-DRB1
2 blood microparticle GO:0072562 8.8 C3 C4A C4B

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

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.63 C3 C4A C4B
2 innate immune response GO:0045087 9.61 C3 C4A C4B
3 inflammatory response GO:0006954 9.58 C3 C4A C4B
4 complement activation, classical pathway GO:0006958 9.54 C3 C4A C4B
5 negative regulation of endopeptidase activity GO:0010951 9.5 C3 C4A C4B
6 cellular protein metabolic process GO:0044267 9.48 C3 C4A
7 regulation of complement activation GO:0030449 9.43 C3 C4A C4B
8 complement activation GO:0006956 9.33 C3 C4A C4B
9 immune system process GO:0002376 9.26 C3 C4A C4B HLA-DRB1
10 positive regulation of apoptotic cell clearance GO:2000427 8.8 C3 C4A C4B

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 9.13 C3 C4A C4B
2 endopeptidase inhibitor activity GO:0004866 8.8 C3 C4A C4B

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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