MCID: C3D001
MIFTS: 36

C3 Deficiency malady

Genetic diseases, Blood diseases, Rare diseases, Immune diseases categories

Summaries for C3 Deficiency

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48OMIM, 34MalaCards
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MalaCards: C3 Deficiency, also known as complement component 3 deficiency, is related to meningitis and glomerulonephritis. 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 spinal cord, and related mouse phenotype other.

Description from OMIM:48 613779

Aliases & Classifications for C3 Deficiency

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9Disease Ontology, 10diseasecard, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 41NCIt, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
c3 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

c3 deficiency 9 10 48 11 50 63
complement component 3 deficiency 50


External Ids:

Disease Ontology9 DOID:8354
NCIt41 C9468
SNOMED-CT via Orphanet60 234603007
OMIM48 613779
ICD10 via Orphanet27 D84.1

Related Diseases for C3 Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to C3 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1meningitis10.2
2glomerulonephritis10.2
3c3 deficiency, autosomal recessive10.2
4systemic lupus erythematosus10.0
5immune-complex glomerulonephritis10.0
6atherosclerosis10.0
7hypertension10.0
8lipodystrophy10.0
9lupus erythematosus10.0
10multiple sclerosis10.0
11obesity10.0
12pertussis10.0
13pneumonia10.0
14synovitis10.0
15hypoxia10.0
16spinal cord injury10.0
17sepsis10.0
18insulin resistance10.0
19pneumococcal meningitis10.0
20arthritis10.0C3, HBB
21tuberculosis10.0C3, HBB

Graphical network of the top 20 diseases related to C3 Deficiency:



Diseases related to c3 deficiency

Symptoms for C3 Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613779

Clinical features from OMIM:

613779

Drugs & Therapeutics for C3 Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for C3 Deficiency

Search CenterWatch for C3 Deficiency

Genetic Tests for C3 Deficiency

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Anatomical Context for C3 Deficiency

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34MalaCards
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MalaCards organs/tissues related to C3 Deficiency:

34
Tonsil, T cells, Spinal cord, Bone, Bone marrow, B cells

Animal Models for C3 Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to C3 Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0C3, HBB

Publications for C3 Deficiency

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53PubMed
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Articles related to C3 Deficiency:

(show all 49)
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
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
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. (21767994)
2011
6
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. (21501302)
2011
7
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. (22194859)
2011
8
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. (20800648)
2010
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
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
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
16
Recurrent meningitis in a family with C3 deficiency. (16585828)
2006
17
Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. (15734841)
2005
18
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. (15781264)
2005
19
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. (16158444)
2005
20
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. (14639503)
2004
21
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. (12874322)
2003
22
Homozygous hereditary C3 deficiency due to a premature stop codon. (12462331)
2002
23
Recurrent pneumococcal meningitis in homozygous C3 deficiency. (12173704)
2002
24
Influence of C3 deficiency on atherosclerosis. (12081998)
2002
25
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. (11139258)
2001
26
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. (11422912)
2001
27
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. (9510185)
1998
28
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. (9176087)
1997
29
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. (8938101)
1996
30
Compound heterozygous complement C3 deficiency. (7890305)
1995
31
A hereditary C3 deficiency due to aberrant splicing of exon 10. (7923934)
1994
32
Inherited complement C3 deficiency: a defect in C3 secretion. (8026514)
1994
33
Complement C3 deficiency: human, animal, and experimental models. (8031472)
1994
34
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion. (7961791)
1994
35
Inherited C3 deficiency and meningococcal disease in a teenager. (1630861)
1992
36
Homozygous hereditary C3 deficiency due to a partial gene deletion. (1350678)
1992
37
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. (1544226)
1992
38
Homozygous C3 deficiency associated with IgA nephropathy. (1944729)
1991
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
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
Selective C3 deficiency due to C3 nephritic factor in an apparently healthy girl. (3834579)
1985
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

Variations for C3 Deficiency

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for C3 Deficiency:

65
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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2BioGPS, 16Gene 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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46Novoseek
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Compounds related to C3 Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lactate469.0C3, HBB
2fatty acid468.7C3, HBB

GO Terms for genes affiliated with C3 Deficiency

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17Gene Ontology
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Cellular components related to C3 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.0C3, HBB

Products for genes affiliated with C3 Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for C3 Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet