C4AD
MCID: CMP095
MIFTS: 26

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 57 12 72 39 70
C4a Deficiency 57 72 29 13 6
C4ad 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
complement component 4a deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060297
OMIM® 57 614380
MeSH 44 D007105
ICD10 32 D84.1
MedGen 41 C3280642
UMLS 70 C3280642

Summaries for Complement Component 4a Deficiency

UniProtKB/Swiss-Prot : 72 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)). Related phenotypes are purpura and vasculitis

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

More information 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 10.4
2 lupus erythematosus 10.3
3 iga glomerulonephritis 10.0
4 otitis media 9.9
5 cutaneous lupus erythematosus 9.9
6 dermatomyositis 9.9
7 childhood type dermatomyositis 9.9
8 capillary leak syndrome 9.9
9 hepatitis b 9.9
10 maxillary sinusitis 9.9
11 hemolytic anemia 9.9
12 subacute cutaneous lupus erythematosus 9.9
13 glomerular disease 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 purpura 31 HP:0000979
2 vasculitis 31 HP:0002633
3 cutaneous photosensitivity 31 HP:0000992
4 systemic lupus erythematosus 31 HP:0002725
5 complement deficiency 31 HP:0004431
6 glomerulonephritis 31 HP:0000099

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Complement Component 4a Deficiency:

# Genetic test Affiliating Genes
1 C4a Deficiency 29 C4A

Anatomical Context for Complement Component 4a Deficiency

Publications for Complement Component 4a Deficiency

Articles related to Complement Component 4a Deficiency:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. 61 57 6
8473511 1993
2
Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus. 6 57
2295875 1990
3
A high frequency of inherited deficiency of complement component C4 in Darwin Aborigines. 61 57
3501712 1987
4
Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. 57
22387014 2012
5
Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus. 57
7706484 1995
6
Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. 57
2384609 1990
7
Renal disease in a patient with hereditary complete deficiency of the fourth component of complement. 57
2243578 1990
8
Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis. 57
2551816 1989
9
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
10
Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis. 57
2862466 1985
11
Genetic analysis of C4 deficiency. 57
7451653 1981
12
Impact of Homozygous C4A Deficiency on Clinical Presentation of Systemic Lupus Erythematosus. 61
32893787 2020
13
Opposite Profiles of Complement in Antiphospholipid Syndrome (APS) and Systemic Lupus Erythematosus (SLE) Among Patients With Antiphospholipid Antibodies (aPL). 61
31134052 2019
14
Clinical features of patients with homozygous complement C4A or C4B deficiency. 61
29928053 2018
15
Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. 61
26493816 2016
16
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. 61
26814708 2016
17
C4A deficiency in children and adolescents with recurrent respiratory infections. 61
22406254 2012
18
Increased frequency of complement C4B deficiency in rheumatoid arthritis. 61
22076784 2012
19
Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction. 61
22737222 2012
20
[Enzyme immunoassay of masked complement component C4 deficiency in patients with urogenital Chlamydia infection]. 61
21809649 2011
21
Beneficial effect of clarithromycin in patients with acute coronary syndrome and complement C4 deficiencies. 61
19365786 2009
22
Partial C4 deficiency in juvenile idiopathic arthritis patients. 61
17921792 2007
23
Which complement assays and typings are necessary for the diagnosis of complement deficiency in patients with lupus erythematosus? A study of 25 patients. 61
16987709 2006
24
Capillary leak syndrome in children with C4A-deficiency undergoing cardiac surgery with cardiopulmonary bypass: a double-blind, randomised controlled study. 61
16099291 2005
25
The combination of complement deficiency and cigarette smoking as risk factor for cutaneous lupus erythematosus in men; a focus on combined C2/C4 deficiency. 61
15727637 2005
26
The intricate role of complement component C4 in human systemic lupus erythematosus. 61
14719377 2004
27
Relationship between complement components C4A and C4B diversities and two TNFA promoter polymorphisms in two healthy Caucasian populations. 61
12691705 2003
28
C4A deficiency and elevated level of immune complexes: the mechanism behind increased susceptibility to systemic lupus erythematosus. 61
12415592 2002
29
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. 61
12175637 2002
30
C4A deficiency and nonresponse to hepatitis B vaccination. 61
12175635 2002
31
Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE). 61
11168010 2001
32
Long PCR detection of the C4A null allele in B8-C4AQ0-C4B1-DR3. 61
11033017 2000
33
C4A deficiency due to a 2 bp insertion is increased in patients with systemic lupus erythematosus. 61
10529130 1999
34
A study of the association of HLA DR, DQ, and complement C4 alleles with systemic lupus erythematosus in Iceland. 61
9797559 1998
35
The phenotype of SLE associated with complete deficiency of complement isotype C4A. 61
9475353 1998
36
Glomerular deposition of the complement C4 isotypes C4A and C4B in glomeruonephritis. 61
8671963 1996
37
C4 phenotypes in IgA nephropathy: disease progression associated with C4A deficiency but not with C4 isotype concentrations. 61
8706353 1996
38
A study of the major histocompatibility complex in a Caucasian family with multiple cases of systemic lupus erythematosus: association with the C4AQ0 phenotype. 61
8991982 1995
39
Partial complement deficiencies in idiopathic thrombocytopenia of childhood. 61
7949807 1994
40
Polymorphism in the human complement C4 genes and genetic susceptibility to autoimmune hepatitis. 61
7858109 1994
41
Clinical expression of systemic lupus erythematosus in patients with C4A deficiency. 61
8341140 1993
42
DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus. 61
2044237 1991
43
C4A deficiency and poor prognosis in patients with IgA nephropathy. 61
1889146 1991
44
Role for specific complement phenotypes and deficiencies in the clinical expression of IgA nephropathy. 61
1826409 1991
45
C4 polymorphism and major histocompatibility complex haplotypes in IgA deficiency: association with C4A null haplotypes. 61
1817567 1991
46
Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. 61
2289315 1990
47
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. 61
1976809 1990
48
[Clinical features of male SLE patients--summary of our 22 cases]. 61
2214241 1990
49
Regional variation in C4 phenotype in patients with IgA nephropathy. 61
2329414 1990
50
HLA and disease in Oceania. 61
2697121 1989

Variations for Complement Component 4a Deficiency

ClinVar genetic disease variations for Complement Component 4a Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C4A C4A, 2-BP INS, EX29 Insertion Pathogenic 17055 GRCh37:
GRCh38:
2 C4A NM_007293.3(C4A):c.723dup (p.Glu242Ter) Duplication Pathogenic 997557 GRCh37: 6:31951625-31951626
GRCh38: 6:31983848-31983849
3 C4A NM_007293.3(C4A):c.4832del (p.Gly1611fs) Deletion Pathogenic 997604 GRCh37: 6:31969326-31969326
GRCh38: 6:32001549-32001549
4 C4A NM_007293.2:c.3392delG Deletion Pathogenic 1033203 GRCh37: 6:31963983-31963983
GRCh38: 6:31996206-31996206
5 C4A NM_007293.3(C4A):c.3453T>G (p.His1151Gln) SNV Uncertain significance 1034372 GRCh37: 6:31964049-31964049
GRCh38: 6:31996272-31996272
6 C4A NM_007293.3(C4A):c.3059C>T (p.Pro1020Leu) SNV Uncertain significance 1029153 GRCh37: 6:31963221-31963221
GRCh38: 6:31995444-31995444

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
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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