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 57 12 75 40 73
C4a Deficiency 57 75 13 6
C4ad 57 75
Complement Component-4a 13

Characteristics:

OMIM:

57
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
complement component 4a deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614380
Disease Ontology 12 DOID:0060297
ICD10 33 D84.1
MedGen 42 C3280642
MeSH 44 D007105
UMLS 73 C3280642

Summaries for Complement Component 4a Deficiency

UniProtKB/Swiss-Prot : 75 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

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 10.3
2 lupus erythematosus 10.3
3 iga glomerulonephritis 10.0
4 childhood type dermatomyositis 9.9
5 hepatitis 9.9
6 hepatitis b 9.9
7 dermatomyositis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Complement Component 4a Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 purpura 32 HP:0000979
2 vasculitis 32 HP:0002633
3 cutaneous photosensitivity 32 HP:0000992
4 systemic lupus erythematosus 32 HP:0002725
5 complement deficiency 32 HP:0004431
6 glomerulonephritis 32 HP:0000099

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:

41
Skin

Publications for Complement Component 4a Deficiency

Articles related to Complement Component 4a Deficiency:

(show all 16)
# Title Authors Year
1
Effects of Complement C4 Gene Copy-Number Variations, Size Dichotomy and C4A-Deficiency on Genetic Risk and Clinical Presentation of East-Asian SLE. ( 26814708 )
2016
2
Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis. ( 26493816 )
2015
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
Influence of C4A deficiency on nonresponse to HBsAg vaccination: a new immune response gene. ( 12175637 )
2002
6
C4A deficiency and nonresponse to hepatitis B vaccination. ( 12175635 )
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
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. ( 8473511 )
1993
11
Clinical expression of systemic lupus erythematosus in patients with C4A deficiency. ( 8341140 )
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
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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