MCID: C3D001
MIFTS: 32

C3 Deficiency malady

Blood diseases category

Summaries for C3 Deficiency

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46OMIM, 32MalaCards
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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

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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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

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17GeneCards, 18GeneDecks
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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

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46OMIM
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Clinical features from OMIM:

613779

Clinical synopsis from OMIM:

613779

Drugs & Therapeutics for C3 Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for C3 Deficiency

Genetic Tests for C3 Deficiency

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Anatomical Context for C3 Deficiency

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32MalaCards
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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

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Publications for C3 Deficiency

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50PubMed
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Articles related to C3 Deficiency:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. (23963626)
2013
2
Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. (23204401)
2013
3
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. (23043374)
2012
4
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. (23117396)
2012
5
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. (21501302)
2011
6
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. (22194859)
2011
7
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. (20800648)
2010
8
Recurrent meningitis secondary to isolated C3 deficiency. (19391010)
2009
9
An exceptional component C3 deficiency revealed by serum protein electrophoresis]. (19939777)
2009
10
Screening for C3 deficiency in newborns using microarrays. (19390687)
2009
11
Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits. (18371543)
2008
12
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. (18802120)
2008
13
Immune complex glomerulonephritis following bone marrow transplantation in C3 deficient mice. (18836527)
2008
14
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
15
Genetic deficiency of C3 as well as CNS-targeted expression of the complement inhibitor sCrry ameliorates experimental autoimmune uveoretinitis. (16143328)
2006
16
Recurrent meningitis in a family with C3 deficiency. (16585828)
2006
17
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. (16158444)
2005
18
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. (14639503)
2004
19
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. (12874322)
2003
20
Homozygous hereditary C3 deficiency due to a premature stop codon. (12462331)
2002
21
Recurrent pneumococcal meningitis in homozygous C3 deficiency. (12173704)
2002
22
Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. (12091909)
2002
23
Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters. (11813855)
2001
24
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. (11139258)
2001
25
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. (11422912)
2001
26
The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals. (10792385)
2000
27
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. (9176087)
1997
28
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. (8938101)
1996
29
Compound heterozygous complement C3 deficiency. (7890305)
1995
30
Inherited complement C3 deficiency: a defect in C3 secretion. (8026514)
1994
31
Complement C3 deficiency: human, animal, and experimental models. (8031472)
1994
32
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion. (7961791)
1994
33
Inherited C3 deficiency and meningococcal disease in a teenager. (1630861)
1992
34
Homozygous hereditary C3 deficiency due to a partial gene deletion. (1350678)
1992
35
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. (1544226)
1992
36
Homozygous C3 deficiency associated with IgA nephropathy. (1944729)
1991
37
Metabolism of C3 and factor B in patients with congenital factor I deficiency. (1966986)
1990
38
Molecular basis of hereditary C3 deficiency. (2212005)
1990
39
Deficiencies of human C3 complement receptors type 1 (CR1, CD35) and type 2 (CR2, CD21). (2164822)
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
Inherited C3 deficiency of the complement system. (3264513)
1988
43
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. (3742869)
1986
44
Factor I deficiency and C3 nephritic factor: immunochemical findings and association with Neisseria meningitidis infection in two patients. (6239368)
1984
45
Partial lipodystrophy and familial C3 deficiency. (7358404)
1980
46
Homozygous C3 deficiency: detection of C3 by radioimmunoassay. (303161)
1977
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

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with C3 Deficiency

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Pathways for genes affiliated with C3 Deficiency

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Compounds for genes affiliated with C3 Deficiency

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GO Terms for genes affiliated with C3 Deficiency

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Products for genes affiliated with C3 Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for C3 Deficiency

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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