MCID: C3D001
MIFTS: 38

C3 Deficiency malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for C3 Deficiency

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OMIM:45 The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly... (613779) more...

MalaCards based summary: C3 Deficiency, also known as complement component 3 deficiency, autosomal recessive, is related to meningitis and sjogren's syndrome, and has symptoms including membranoproliferative glomerulonephritis, autosomal recessive inheritance and renal insufficiency. An important gene associated with C3 Deficiency is C3 (complement component 3). The compounds lactate and fatty acid have been mentioned in the context of this disorder. Affiliated tissues include tonsil, t cells and bone marrow, and related mouse phenotype other.

Aliases & Classifications for C3 Deficiency

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 11DISEASES, 47Orphanet, 60UMLS, 22GTR, 20GeneTests, 38NCIt, 26ICD10 via Orphanet
See all sources

C3 Deficiency, Aliases & Descriptions:

Name: C3 Deficiency 45 9 10 11 47 60
Complement Component 3 Deficiency, Autosomal Recessive 45 22
Complement Component 3 Deficiency 9 47
 
C3 Deficiency, Autosomal Recessive 20
Complement Component-3 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
c3 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 613779
Disease Ontology9 DOID:8354
NCIt38 C9468
Orphanet47 280133
ICD10 via Orphanet26 D84.1

Related Diseases for C3 Deficiency

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

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1meningitis10.3
2sjogren's syndrome10.2
3glomerulonephritis10.2
4systemic lupus erythematosus10.0
5obesity10.0
6mucopolysaccharidosis vii10.0
7pulmonary hypertension10.0
8atherosclerosis10.0
9spinal cord injury10.0
10immune-complex glomerulonephritis10.0
11lipodystrophy10.0
12lupus erythematosus10.0
13mucopolysaccharidosis10.0
14pertussis10.0
15pneumonia10.0
16synovitis10.0
17hypoxia10.0
18pneumococcal meningitis10.0
19arthritis10.0C3, HBB
20tuberculosis9.8C3, HBB

Graphical network of diseases related to C3 Deficiency:



Diseases related to c3 deficiency

Symptoms for C3 Deficiency

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Symptoms by clinical synopsis from OMIM:

613779

Clinical features from OMIM:

613779

HPO human phenotypes related to C3 Deficiency:

(show all 6)
id Description Frequency HPO Source Accession
1 membranoproliferative glomerulonephritis 26% HP:0000793
2 autosomal recessive inheritance HP:0000007
3 renal insufficiency HP:0000083
4 nephrotic syndrome HP:0000100
5 recurrent bacterial infections HP:0002718
6 decreased serum complement c3 HP:0005421

Drugs & Therapeutics for C3 Deficiency

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Drug clinical trials:

Search ClinicalTrials for C3 Deficiency

Search NIH Clinical Center for C3 Deficiency

Genetic Tests for C3 Deficiency

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Genetic tests related to C3 Deficiency:

id Genetic test Affiliating Genes
1 C3 Deficiency, Autosomal Recessive20 C3
2 Complement Component 3 Deficiency, Autosomal Recessive22

Anatomical Context for C3 Deficiency

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MalaCards organs/tissues related to C3 Deficiency:

31
Tonsil, T cells, Bone marrow, Bone, Spinal cord, B cells

Animal Models for C3 Deficiency or affiliated genes

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MGI Mouse Phenotypes related to C3 Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0C3, HBB

Publications for C3 Deficiency

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Articles related to C3 Deficiency:

(show all 50)
idTitleAuthorsYear
1
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. (25559179)
2015
2
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. (24321396)
2014
3
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. (23963626)
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
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. (20800648)
2010
10
Recurrent meningitis secondary to isolated C3 deficiency. (19391010)
2009
11
An exceptional component C3 deficiency revealed by serum protein electrophoresis]. (19939777)
2009
12
Screening for C3 deficiency in newborns using microarrays. (19390687)
2009
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
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. (11139258)
2001
27
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. (11422912)
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
Inherited C3 deficiency and meningococcal disease in a teenager. (1630861)
1992
37
Homozygous hereditary C3 deficiency due to a partial gene deletion. (1350678)
1992
38
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. (1544226)
1992
39
Homozygous C3 deficiency associated with IgA nephropathy. (1944729)
1991
40
Molecular basis of hereditary C3 deficiency. (2212005)
1990
41
Molecular basis of complement C3 deficiency in guinea pigs. (1973176)
1990
42
Inherited C3 deficiency with recurrent infections and glomerulonephritis. (2963536)
1988
43
Inherited C3 deficiency of the complement system. (3264513)
1988
44
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. (3742869)
1986
45
Selective C3 deficiency due to C3 nephritic factor in an apparently healthy girl. (3834579)
1985
46
Partial lipodystrophy and familial C3 deficiency. (7358404)
1980
47
Homozygous C3 deficiency: detection of C3 by radioimmunoassay. (303161)
1977
48
HLA-A3 linked C3 deficiency in multiple sclerosis. (901638)
1977
49
Coagulation studies in a patient with homozygous C3 deficiency. (857846)
1977
50
Homozygous human C3 deficiency. The role of C3 in antibody production, C-1s-induced vasopermeability, and cobra venom-induced passive hemolysis. (1107355)
1976

Variations for C3 Deficiency

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UniProtKB/Swiss-Prot 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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Search GEO for disease gene expression data for C3 Deficiency.

Pathways for genes affiliated with C3 Deficiency

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Compounds for genes affiliated with C3 Deficiency

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Sources:
43Novoseek
See all sources

Compounds related to C3 Deficiency according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1lactate439.0C3, HBB
2fatty acid438.7C3, HBB

GO Terms for genes affiliated with C3 Deficiency

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Cellular components related to C3 Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.0C3, HBB

Products for genes affiliated with C3 Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for C3 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet