MCID: C3D001
MIFTS: 32

C3 Deficiency malady

Blood diseases category

Summaries for C3 Deficiency

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: C3 Deficiency, also known as complement component 3 deficiency, is related to complement deficiency and meningitis. An important gene associated with C3 Deficiency is C3 (complement component 3). Affiliated tissues include tonsil, t cells and bone marrow.

Description from OMIM:46 613779

Aliases & Classifications for C3 Deficiency

About this section
Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
c3 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

c3 deficiency 8 9 46 10 48 60
complement component 3 deficiency 48


External Ids:

Disease Ontology8 DOID:8354
NCIt39 C9468
SNOMED-CT via Orphanet57 234603007
OMIM46 613779
ICD10 via Orphanet26 D84.1

Related Diseases for C3 Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to C3 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1complement deficiency10.5
2meningitis10.2
3t cell deficiency10.2
4glomerulonephritis10.1
5c3 deficiency, autosomal recessive10.1
6familial partial lipodystrophy10.0
7systemic lupus erythematosus10.0
8immune-complex glomerulonephritis10.0
9atherosclerosis10.0
10b cell deficiency10.0
11hypertension10.0
12lipodystrophy10.0
13lupus erythematosus10.0
14multiple sclerosis10.0
15obesity10.0
16pertussis10.0
17pneumonia10.0
18synovitis10.0

Graphical network of diseases related to C3 Deficiency:



Diseases related to c3 deficiency

Clinical Features for C3 Deficiency

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

613779

Clinical synopsis from OMIM:

613779

Drugs & Therapeutics for C3 Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for C3 Deficiency

Drug clinical trials:

Search ClinicalTrials for C3 Deficiency

Search NIH Clinical Center for C3 Deficiency

Search CenterWatch for C3 Deficiency

Genetic Tests for C3 Deficiency

About this section

Anatomical Context for C3 Deficiency

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to C3 Deficiency:

32
Tonsil, T cells, Bone marrow, Bone, Spinal cord, B cells

Animal Models for C3 Deficiency or affiliated genes

About this section

Publications for C3 Deficiency

About this section
Sources:
50PubMed
See all sources

Articles related to C3 Deficiency:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. (24321396)
2014
2
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. (23963626)
2013
3
Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. (23204401)
2013
4
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. (23043374)
2012
5
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. (23117396)
2012
6
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. (21767994)
2011
7
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. (21501302)
2011
8
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. (22194859)
2011
9
Recurrent meningitis secondary to isolated C3 deficiency. (19391010)
2009
10
An exceptional component C3 deficiency revealed by serum protein electrophoresis]. (19939777)
2009
11
Screening for C3 deficiency in newborns using microarrays. (19390687)
2009
12
Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits. (18371543)
2008
13
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. (18802120)
2008
14
Immune complex glomerulonephritis following bone marrow transplantation in C3 deficient mice. (18836527)
2008
15
The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency. (18201916)
2008
16
Complement C3 deficiency leads to accelerated amyloid beta plaque deposition and neurodegeneration and modulation of the microglia/macrophage phenotype in amyloid precursor protein transgenic mice. (18562603)
2008
17
Recurrent meningitis in a family with C3 deficiency. (16585828)
2006
18
Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. (15734841)
2005
19
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. (15781264)
2005
20
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. (16158444)
2005
21
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. (14639503)
2004
22
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. (12874322)
2003
23
Homozygous hereditary C3 deficiency due to a premature stop codon. (12462331)
2002
24
Recurrent pneumococcal meningitis in homozygous C3 deficiency. (12173704)
2002
25
Influence of C3 deficiency on atherosclerosis. (12081998)
2002
26
Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters. (11813855)
2001
27
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. (11139258)
2001
28
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. (9510185)
1998
29
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. (9176087)
1997
30
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. (8938101)
1996
31
Compound heterozygous complement C3 deficiency. (7890305)
1995
32
A hereditary C3 deficiency due to aberrant splicing of exon 10. (7923934)
1994
33
Inherited complement C3 deficiency: a defect in C3 secretion. (8026514)
1994
34
Complement C3 deficiency: human, animal, and experimental models. (8031472)
1994
35
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion. (7961791)
1994
36
Homozygous hereditary C3 deficiency due to a partial gene deletion. (1350678)
1992
37
Homozygous C3 deficiency associated with IgA nephropathy. (1944729)
1991
38
Metabolism of C3 and factor B in patients with congenital factor I deficiency. (1966986)
1990
39
Molecular basis of hereditary C3 deficiency. (2212005)
1990
40
Molecular basis of complement C3 deficiency in guinea pigs. (1973176)
1990
41
Inherited C3 deficiency with recurrent infections and glomerulonephritis. (2963536)
1988
42
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. (3742869)
1986
43
Selective C3 deficiency due to C3 nephritic factor in an apparently healthy girl. (3834579)
1985
44
C3 receptors, complement deficiency and SLE. (6697070)
1984
45
Factor I deficiency and C3 nephritic factor: immunochemical findings and association with Neisseria meningitidis infection in two patients. (6239368)
1984
46
Partial lipodystrophy and familial C3 deficiency. (7358404)
1980
47
HLA-A3 linked C3 deficiency in multiple sclerosis. (901638)
1977
48
Coagulation studies in a patient with homozygous C3 deficiency. (857846)
1977
49
Homozygous human C3 deficiency. The role of C3 in antibody production, C-1s-induced vasopermeability, and cobra venom-induced passive hemolysis. (1107355)
1976
50
C3 metabolism in a patient with deficiency of the second component of complement (C2) and discoid lupus erythematosus. (1084239)
1976

Genetic Variations for C3 Deficiency

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for C3 Deficiency:

62
id Symbol AA change Variation ID SNP ID
1C3p.Asp549AsnVAR_001985
2C3p.Arg1320GlnVAR_001986

Expression for genes affiliated with C3 Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with C3 Deficiency

Search GEO for disease gene expression data for C3 Deficiency.

Pathways for genes affiliated with C3 Deficiency

About this section

Compounds for genes affiliated with C3 Deficiency

About this section

GO Terms for genes affiliated with C3 Deficiency

About this section

Products for genes affiliated with C3 Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for C3 Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet