C4AD
MCID: CMP095
MIFTS: 23

Complement Component 4a Deficiency (C4AD)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Complement Component 4a Deficiency

MalaCards integrated aliases for Complement Component 4a Deficiency:

Name: Complement Component 4a Deficiency 58 12 76 41 74
C4a Deficiency 58 76 13 6
C4ad 58 76
Complement Component-4a 13

Characteristics:

OMIM:

58
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:

33
complement component 4a deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060297
OMIM 58 614380
MeSH 45 D007105
ICD10 34 D84.1
MedGen 43 C3280642
UMLS 74 C3280642

Summaries for Complement Component 4a Deficiency

UniProtKB/Swiss-Prot : 76 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 : Complement Component 4a Deficiency, also known as c4a deficiency, is related to systemic lupus erythematosus and lupus erythematosus. An important gene associated with Complement Component 4a Deficiency is C4A (Complement C4A (Rodgers Blood Group)). Affiliated tissues include skin, and related phenotypes are purpura and vasculitis

Disease Ontology : 12 A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency.

Description from OMIM: 614380

Related Diseases for Complement Component 4a Deficiency

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

# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 10.4
2 lupus erythematosus 10.4
3 iga glomerulonephritis 10.1
4 childhood type dermatomyositis 9.9
5 hepatitis 9.9
6 hepatitis b 9.9
7 dermatomyositis 9.9
8 bowenoid papulosis 9.9

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



Diseases related to Complement Component 4a Deficiency

Symptoms & Phenotypes for Complement Component 4a Deficiency

Human phenotypes related to Complement Component 4a Deficiency:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 purpura 33 HP:0000979
2 vasculitis 33 HP:0002633
3 cutaneous photosensitivity 33 HP:0000992
4 systemic lupus erythematosus 33 HP:0002725
5 complement deficiency 33 HP:0004431
6 glomerulonephritis 33 HP:0000099

Symptoms via clinical synopsis from OMIM:

58
Immunology:
vasculitis
systemic lupus erythematosus
dermatomyositis
anaphylactoid purpura

Skin Nails Hair Skin:
photosensitive skin rashes

Genitourinary Kidneys:
glomerulonephritis

Laboratory Abnormalities:
absent ch50 activity in complete c4 deficiency

Clinical features from OMIM:

614380

Drugs & Therapeutics for Complement Component 4a Deficiency

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

Genetic Tests for Complement Component 4a Deficiency

Anatomical Context for Complement Component 4a Deficiency

MalaCards organs/tissues related to Complement Component 4a Deficiency:

42
Skin

Publications for Complement Component 4a Deficiency

Articles related to Complement Component 4a Deficiency:

(show all 17)
# Title Authors Year
1
Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. ( 26493816 )
2016
2
Effects of Complement C4 Gene Copy Number Variations, Size Dichotomy, and C4A Deficiency on Genetic Risk and Clinical Presentation of Systemic Lupus Erythematosus in East Asian Populations. ( 26814708 )
2016
3
C4A deficiency in children and adolescents with recurrent respiratory infections. ( 22406254 )
2012
4
Capillary leak syndrome in children with C4A-deficiency undergoing cardiac surgery with cardiopulmonary bypass: a double-blind, randomised controlled study. ( 16099291 )
2005
5
C4A deficiency and nonresponse to hepatitis B vaccination. ( 12175635 )
2002
6
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. ( 12175637 )
2002
7
C4A deficiency and elevated level of immune complexes: the mechanism behind increased susceptibility to systemic lupus erythematosus. ( 12415592 )
2002
8
C4A deficiency due to a 2 bp insertion is increased in patients with systemic lupus erythematosus. ( 10529130 )
1999
9
C4 phenotypes in IgA nephropathy: disease progression associated with C4A deficiency but not with C4 isotype concentrations. ( 8706353 )
1996
10
Clinical expression of systemic lupus erythematosus in patients with C4A deficiency. ( 8341140 )
1993
11
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. ( 8473511 )
1993
12
C4A deficiency and poor prognosis in patients with IgA nephropathy. ( 1889146 )
1991
13
DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus. ( 2044237 )
1991
14
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. ( 1976809 )
1990
15
Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. ( 2289315 )
1990
16
Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus. ( 2295875 )
1990
17
Partial C4A deficiency is associated with susceptibility to systemic lupus erythematosus in black Americans. ( 3262348 )
1988

Variations for Complement Component 4a Deficiency

ClinVar genetic disease variations for Complement Component 4a Deficiency:

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

Expression for Complement Component 4a Deficiency

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

Pathways for Complement Component 4a Deficiency

GO Terms for Complement Component 4a Deficiency

Sources for Complement Component 4a 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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