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MCID: CMP090
MIFTS: 39

Complement Component 3 Deficiency, Autosomal Recessive

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Complement Component 3 Deficiency, Autosomal Recessive

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MalaCards integrated aliases for Complement Component 3 Deficiency, Autosomal Recessive:

Name: Complement Component 3 Deficiency, Autosomal Recessive 57 29 40
C3 Deficiency 57 59 29 13 6 73
Complement Component 3 Deficiency 59 75
Immune System Diseases 44 73
C3d 57 75
Complement Component 3 Deficiency Autosomal Recessive 75
C3 Deficiency, Autosomal Recessive 57
C3 Deficiency Autosomal Recessive 75

Characteristics:

Orphanet epidemiological data:

59
complement component 3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

32
complement component 3 deficiency, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 613779
Orphanet 59 ORPHA280133
UMLS via Orphanet 74 C3151071
ICD10 via Orphanet 34 D84.1
MedGen 42 C3151071
MeSH 44 D007154
UMLS 73 C0021053
Sources

Summaries for Complement Component 3 Deficiency, Autosomal Recessive

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OMIM : 57 The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly caused by gram-negative bacteria, such as Neisseria meningitidis, Enterobacter aerogenes, Haemophilus influenzae, and Escherichia coli; infections with gram-positive bacteria also occur. Infections in the upper and lower respiratory tract, including pneumonia, episodes of sinusitis, tonsillitis, and otitis, are the most frequent consequence of the C3 deficiency. Approximately 26% of patients with C3 deficiency develop immune complex-mediated autoimmune diseases resembling systemic lupus erythematosus (see 152700), and about 26% of patients develop mesangiocapillary or membranoproliferative glomerulonephritis, resulting in renal failure (summary by Reis et al., 2006). (613779)

MalaCards based summary : Complement Component 3 Deficiency, Autosomal Recessive, also known as c3 deficiency, is related to immune system disease and immune deficiency disease, and has symptoms including pathological conditions, signs and symptoms An important gene associated with Complement Component 3 Deficiency, Autosomal Recessive is C3 (Complement C3). The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include tonsil, t cells and b cells, and related phenotypes are renal insufficiency and nephrotic syndrome

UniProtKB/Swiss-Prot : 75 Complement component 3 deficiency: A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis.

Sources

Related Diseases for Complement Component 3 Deficiency, Autosomal Recessive

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Diseases related to Complement Component 3 Deficiency, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 immune system disease 12.1
2 immune deficiency disease 11.5
3 complement component 3 deficiency 11.1
4 temporal arteritis 10.7
5 autoinflammation, panniculitis, and dermatosis syndrome 10.7
6 allergic hypersensitivity disease 10.7
7 peripheral nervous system disease 10.7
8 lymphatic system disease 10.7
9 herpes zoster 10.7
10 newcastle disease 10.0
11 meningitis 9.9
12 systemic lupus erythematosus 9.8
13 lymphoma 9.8
14 iga glomerulonephritis 9.8
15 influenza 9.8
16 lupus erythematosus 9.8
17 autoimmune disease 9.7
18 rheumatoid arthritis 9.7
19 buerger disease 9.7
20 aging 9.7
21 asthma 9.7
22 macular degeneration, age-related, 1 9.7
23 autoimmune disease 1 9.7
24 human immunodeficiency virus type 1 9.7
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
26 microvascular complications of diabetes 5 9.7
27 membranous nephropathy 9.7
28 arthritis 9.7
29 glomerulonephritis 9.7
30 skin disease 9.7
31 swine influenza 9.7
32 tonsillitis 9.7
33 rift valley fever 9.7
34 coccidioidomycosis 9.7
35 avian influenza 9.7
36 arteriolosclerosis 9.7
37 bullous pemphigoid 9.7
38 vasculitis 9.7
39 lymphosarcoma 9.7
40 pulmonary eosinophilia 9.7
41 allergic encephalomyelitis 9.7

Graphical network of the top 20 diseases related to Complement Component 3 Deficiency, Autosomal Recessive:



Diseases related to Complement Component 3 Deficiency, Autosomal Recessive
Sources

Symptoms & Phenotypes for Complement Component 3 Deficiency, Autosomal Recessive

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Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
membranoproliferative glomerulonephritis (in about 26%)
nephrotic syndrome
renal failure

Laboratory Abnormalities:
decreased c3 activity
decreased c3 antigen

Immunology:
recurrent bacterial infections
autoimmune disease resembling systemic lupus erythematosus (sle, ) (in about 26%)


Clinical features from OMIM:

613779

Human phenotypes related to Complement Component 3 Deficiency, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 nephrotic syndrome 32 HP:0000100
3 recurrent bacterial infections 32 HP:0002718
4 membranoproliferative glomerulonephritis 32 very rare (1%) HP:0000793
5 decreased serum complement c3 32 HP:0005421

UMLS symptoms related to Complement Component 3 Deficiency, Autosomal Recessive:


pathological conditions, signs and symptoms
Sources

Drugs & Therapeutics for Complement Component 3 Deficiency, Autosomal Recessive

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Drugs for Complement Component 3 Deficiency, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 2,Phase 1
2 Antibodies, Monoclonal Phase 4,Phase 2,Phase 1
3 Complement System Proteins Phase 4,Phase 2
4 Immunoglobulins Phase 4,Phase 2,Phase 1
5 Complement C3 Phase 4,Phase 1,Not Applicable
6 gamma-Globulins Phase 4
7 Immunoglobulins, Intravenous Phase 4
8 Rho(D) Immune Globulin Phase 4
9
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Trametinib Approved Phase 2 871700-17-3 11707110
12 Alkylating Agents Phase 2
13 Antineoplastic Agents, Alkylating Phase 2
14 Bendamustine Hydrochloride Phase 2
15 Immunoglobulin G Phase 2
16 Nitrogen Mustard Compounds Phase 2
17 Protein Kinase Inhibitors Phase 2
18
Everolimus Approved Phase 1 159351-69-6 6442177
19
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
20
Coal tar Approved Phase 1 8007-45-2
21
Bevacizumab Approved, Investigational Phase 1 216974-75-3
22
nivolumab Approved Phase 1 946414-94-4
23
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 5310940 9887054 43805 6857599
24
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
25
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
26 Vaccines Phase 1
27 Angiogenesis Inhibitors Phase 1
28 Angiogenesis Modulating Agents Phase 1
29 Anti-Infective Agents Phase 1
30 Antimetabolites Phase 1
31 Antiviral Agents Phase 1
32 Pharmaceutical Solutions Phase 1
33 Retinol palmitate Phase 1
34 tyrosine Nutraceutical Phase 1
35 retinol Nutraceutical Phase 1
36 Antacids Not Applicable
37 Anticoagulants Not Applicable
38 Anti-Ulcer Agents Not Applicable
39 fucoidan Not Applicable
40 Gastrointestinal Agents Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 The De-novo Use of Eculizumab in Presensitized Patients Receiving Cardiac Transplantation Enrolling by invitation NCT02013037 Phase 4 Eculizumab
2 JET-GBS - Japanese Eculizumab Trial for GBS Completed NCT02493725 Phase 2 Eculizumab;Placebo
3 Ofatumumab Plus Bendamustine in Frontline and Relapsed Chronic Lymphocytic Leukaemia (CLL) Completed NCT01520922 Phase 2 Bendamustine
4 Open-label Study to Evaluate the Safety, PK, and PD of MEK Inhibitor GSK1120212 in Subjects With Relapsed or Refractory Leukemias Completed NCT00920140 Phase 2 GSK1120212;GSK1120212
5 Study Of Ispinesib In Subjects With Breast Cancer Completed NCT00089973 Phase 2 Ispinesib
6 A Study of Abemaciclib in Recurrent Glioblastoma Active, not recruiting NCT02981940 Phase 2 Abemaciclib
7 Topical Ruxolitinib for Cutaneous Chronic Graft Versus Host Disease (cGVHD) Not yet recruiting NCT03395340 Phase 2 Ruxolitinib 1.5% cream
8 Targeting Complement Activation in Antineutrophil Cytoplasmic Autoantibodies (ANCA)-Vasculitis - Eculizumab Withdrawn NCT01275287 Phase 2 Standard of care treatment;eculizumab
9 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
10 Escalating Dose Study in Subjects With Relapsed or Refractory B Cell Non-Hodgkin Lymphoma, Chronic Lymphocytic Leukemia, and Waldenstrom's Macroglobulinemia Completed NCT01351935 Phase 1 AVL-292
11 Phase I Safety Study of Dendritic Cell Vaccine to Treat Patients With Hepatocellular Carcinoma Completed NCT01974661 Phase 1
12 First in Human Evaluation of Safety, Pharmacokinetics, and Clinical Activity of a Monoclonal Antibody Targeting Netrin 1 in Patients With Advanced/Metastatic Solid Tumors Recruiting NCT02977195 Phase 1 NP137
13 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
14 A Study of the Safety, Pharmacokinetics, and Therapeutic Activity of RO6958688 in Combination With Atezolizumab in Participants With Locally Advanced and/or Metastatic Carcinoembryonic Antigen (CEA)-Positive Solid Tumors Active, not recruiting NCT02650713 Phase 1 Atezolizumab;RO6958688
15 Clinical Study of Relapsed/Refractory Chronic Lymphocytic Leukemia (CLL) Suspended NCT02117336 Phase 1 P1446A-05
16 Complement-activating Anti-human Leucocyte Antigen Donor Specific Antibodies in Solid Organ Transplantation Completed NCT03438058
17 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697 Not Applicable
18 To Evaluate the QoL Improvement of Oral Oligo Fucoidan in Subjects Receiving Platinum-based Chemotherapy With NSCLC Not yet recruiting NCT03130829 Not Applicable

Search NIH Clinical Center for Complement Component 3 Deficiency, Autosomal Recessive

Cochrane evidence based reviews: immune system diseases

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Genetic Tests for Complement Component 3 Deficiency, Autosomal Recessive

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Genetic tests related to Complement Component 3 Deficiency, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Complement Component 3 Deficiency, Autosomal Recessive 29 C3
2 C3 Deficiency 29
Sources

Anatomical Context for Complement Component 3 Deficiency, Autosomal Recessive

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MalaCards organs/tissues related to Complement Component 3 Deficiency, Autosomal Recessive:

41
Tonsil, T Cells, B Cells, Breast, Brain, Bone, Spinal Cord
Sources

Publications for Complement Component 3 Deficiency, Autosomal Recessive

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Articles related to Complement Component 3 Deficiency, Autosomal Recessive:

(show top 50) (show all 56)
# Title Authors Year
1
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. ( 28566429 )
2017
2
Hereditary Homozygous C3 Deficiency. ( 28435995 )
2017
3
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. ( 27029069 )
2016
4
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. ( 26847111 )
2016
5
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. ( 26435005 )
2015
6
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. ( 25559179 )
2015
7
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. ( 24321396 )
2014
8
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. ( 23963626 )
2013
9
Rheumatoid factor-positive synovitis in a patient with C3 deficiency. ( 23043374 )
2012
10
Autoantibody stabilization of the classical pathway C3 convertase leading to C3 deficiency and Neisserial sepsis: C4 nephritic factor revisited. ( 23117396 )
2012
11
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. ( 22194859 )
2011
12
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. ( 21767994 )
2011
13
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. ( 21501302 )
2011
14
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. ( 20800648 )
2010
15
Recurrent meningitis secondary to isolated C3 deficiency. ( 19391010 )
2009
16
[An exceptional component C3 deficiency revealed by serum protein electrophoresis]. ( 19939777 )
2009
17
Screening for C3 deficiency in newborns using microarrays. ( 19390687 )
2009
18
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
19
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
20
Immune complex glomerulonephritis following bone marrow transplantation in C3 deficient mice. ( 18836527 )
2008
21
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. ( 18802120 )
2008
22
Recurrent meningitis in a family with C3 deficiency. ( 16585828 )
2006
23
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. ( 15781264 )
2005
24
Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. ( 15734841 )
2005
25
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. ( 16158444 )
2005
26
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. ( 14639503 )
2004
27
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. ( 12874322 )
2003
28
Influence of C3 deficiency on atherosclerosis. ( 12081998 )
2002
29
Homozygous hereditary C3 deficiency due to a premature stop codon. ( 12462331 )
2002
30
Recurrent pneumococcal meningitis in homozygous C3 deficiency. ( 12173704 )
2002
31
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. ( 11422912 )
2001
32
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. ( 11139258 )
2001
33
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. ( 9510185 )
1998
34
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. ( 9176087 )
1997
35
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. ( 8938101 )
1996
36
Compound heterozygous complement C3 deficiency. ( 7890305 )
1995
37
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion. ( 7961791 )
1994
38
A hereditary C3 deficiency due to aberrant splicing of exon 10. ( 7923934 )
1994
39
Inherited complement C3 deficiency: a defect in C3 secretion. ( 8026514 )
1994
40
Complement C3 deficiency: human, animal, and experimental models. ( 8031472 )
1994
41
Homozygous hereditary C3 deficiency due to a partial gene deletion. ( 1350678 )
1992
42
Inherited C3 deficiency and meningococcal disease in a teenager. ( 1630861 )
1992
43
Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families. ( 1396929 )
1992
44
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. ( 1544226 )
1992
45
Homozygous C3 deficiency associated with IgA nephropathy. ( 1944729 )
1991
46
Molecular basis of complement C3 deficiency in guinea pigs. ( 1973176 )
1990
47
Molecular basis of hereditary C3 deficiency. ( 2212005 )
1990
48
Inherited C3 deficiency of the complement system. ( 3264513 )
1988
49
Inherited C3 deficiency with recurrent infections and glomerulonephritis. ( 2963536 )
1988
50
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. ( 3742869 )
1986
Sources

Variations for Complement Component 3 Deficiency, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Complement Component 3 Deficiency, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 C3 p.Asp549Asn VAR_001985

ClinVar genetic disease variations for Complement Component 3 Deficiency, Autosomal Recessive:

6
(show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 C3 C3, 61-BP DEL, EX18 deletion Pathogenic
2 C3 NG_009557.1: g.(28821_28842)_(29653_29671)del deletion Pathogenic GRCh38 Chromosome 19, 6695981: 6696831
3 C3 NG_009557.1: g.(28821_28842)_(29653_29671)del deletion Pathogenic GRCh37 Chromosome 19, 6695992: 6696842
4 C3 C3, IVS38AS, A-G single nucleotide variant Pathogenic
5 C3 NM_000064.3(C3): c.4941G> A (p.Gln1647=) single nucleotide variant Uncertain significance rs780251209 GRCh38 Chromosome 19, 6677933: 6677933
6 C3 NM_000064.3(C3): c.4941G> A (p.Gln1647=) single nucleotide variant Uncertain significance rs780251209 GRCh37 Chromosome 19, 6677944: 6677944
7 C3 NM_000064.3(C3): c.4896C> T (p.Pro1632=) single nucleotide variant Benign rs17030 GRCh38 Chromosome 19, 6677978: 6677978
8 C3 NM_000064.3(C3): c.4896C> T (p.Pro1632=) single nucleotide variant Benign rs17030 GRCh37 Chromosome 19, 6677989: 6677989
9 C3 NM_000064.3(C3): c.4767G> A (p.Lys1589=) single nucleotide variant Likely benign rs144589541 GRCh38 Chromosome 19, 6678235: 6678235
10 C3 NM_000064.3(C3): c.4767G> A (p.Lys1589=) single nucleotide variant Likely benign rs144589541 GRCh37 Chromosome 19, 6678246: 6678246
11 C3 NM_000064.3(C3): c.4631-9C> T single nucleotide variant Likely benign rs116302413 GRCh38 Chromosome 19, 6678464: 6678464
12 C3 NM_000064.3(C3): c.4631-9C> T single nucleotide variant Likely benign rs116302413 GRCh37 Chromosome 19, 6678475: 6678475
13 C3 NM_000064.3(C3): c.4535G> A (p.Arg1512His) single nucleotide variant Uncertain significance rs142868256 GRCh38 Chromosome 19, 6679418: 6679418
14 C3 NM_000064.3(C3): c.4535G> A (p.Arg1512His) single nucleotide variant Uncertain significance rs142868256 GRCh37 Chromosome 19, 6679429: 6679429
15 C3 NM_000064.3(C3): c.4457-4G> A single nucleotide variant Benign rs2277984 GRCh38 Chromosome 19, 6679500: 6679500
16 C3 NM_000064.3(C3): c.4457-4G> A single nucleotide variant Benign rs2277984 GRCh37 Chromosome 19, 6679511: 6679511
17 C3 NM_000064.3(C3): c.4030-4C> T single nucleotide variant Likely benign rs372612816 GRCh38 Chromosome 19, 6684654: 6684654
18 C3 NM_000064.3(C3): c.4030-4C> T single nucleotide variant Likely benign rs372612816 GRCh37 Chromosome 19, 6684665: 6684665
19 C3 NM_000064.3(C3): c.3753C> A (p.Pro1251=) single nucleotide variant Benign rs2230209 GRCh38 Chromosome 19, 6686181: 6686181
20 C3 NM_000064.3(C3): c.3753C> A (p.Pro1251=) single nucleotide variant Benign rs2230209 GRCh37 Chromosome 19, 6686192: 6686192
21 C3 NM_000064.3(C3): c.3216G> T (p.Arg1072=) single nucleotide variant Likely benign rs137880434 GRCh38 Chromosome 19, 6693426: 6693426
22 C3 NM_000064.3(C3): c.3216G> T (p.Arg1072=) single nucleotide variant Likely benign rs137880434 GRCh37 Chromosome 19, 6693437: 6693437
23 C3 NM_000064.3(C3): c.2799G> A (p.Pro933=) single nucleotide variant Likely benign rs149209011 GRCh38 Chromosome 19, 6696657: 6696657
24 C3 NM_000064.3(C3): c.2799G> A (p.Pro933=) single nucleotide variant Likely benign rs149209011 GRCh37 Chromosome 19, 6696668: 6696668
25 C3 NM_000064.3(C3): c.2700C> G (p.Ile900Met) single nucleotide variant Uncertain significance rs763155610 GRCh38 Chromosome 19, 6697440: 6697440
26 C3 NM_000064.3(C3): c.2700C> G (p.Ile900Met) single nucleotide variant Uncertain significance rs763155610 GRCh37 Chromosome 19, 6697451: 6697451
27 C3 NM_000064.3(C3): c.2430G> A (p.Ser810=) single nucleotide variant Benign rs2230207 GRCh38 Chromosome 19, 6702137: 6702137
28 C3 NM_000064.3(C3): c.2430G> A (p.Ser810=) single nucleotide variant Benign rs2230207 GRCh37 Chromosome 19, 6702148: 6702148
29 C3 NM_000064.3(C3): c.2421G> C (p.Val807=) single nucleotide variant Benign rs428453 GRCh38 Chromosome 19, 6702146: 6702146
30 C3 NM_000064.3(C3): c.2421G> C (p.Val807=) single nucleotide variant Benign rs428453 GRCh37 Chromosome 19, 6702157: 6702157
31 C3 NM_000064.3(C3): c.2246-8C> T single nucleotide variant Benign rs406514 GRCh38 Chromosome 19, 6702587: 6702587
32 C3 NM_000064.3(C3): c.2246-8C> T single nucleotide variant Benign rs406514 GRCh37 Chromosome 19, 6702598: 6702598
33 C3 NM_000064.3(C3): c.2048-14_2048-13delAC deletion Benign rs140718871 GRCh38 Chromosome 19, 6707286: 6707287
34 C3 NM_000064.3(C3): c.2048-14_2048-13delAC deletion Benign rs140718871 GRCh37 Chromosome 19, 6707297: 6707298
35 C3 NM_000064.3(C3): c.1819A> G (p.Lys607Glu) single nucleotide variant Uncertain significance rs140637006 GRCh38 Chromosome 19, 6709710: 6709710
36 C3 NM_000064.3(C3): c.1819A> G (p.Lys607Glu) single nucleotide variant Uncertain significance rs140637006 GRCh37 Chromosome 19, 6709721: 6709721
37 C3 NM_000064.3(C3): c.1758G> A (p.Glu586=) single nucleotide variant Uncertain significance rs764201055 GRCh38 Chromosome 19, 6709771: 6709771
38 C3 NM_000064.3(C3): c.1758G> A (p.Glu586=) single nucleotide variant Uncertain significance rs764201055 GRCh37 Chromosome 19, 6709782: 6709782
39 C3 NM_000064.3(C3): c.1692G> A (p.Val564=) single nucleotide variant Benign rs2230204 GRCh38 Chromosome 19, 6709837: 6709837
40 C3 NM_000064.3(C3): c.1692G> A (p.Val564=) single nucleotide variant Benign rs2230204 GRCh37 Chromosome 19, 6709848: 6709848
41 C3 NM_000064.3(C3): c.1119+14C> T single nucleotide variant Likely benign rs374368486 GRCh37 Chromosome 19, 6712505: 6712505
42 C3 NM_000064.3(C3): c.1119+14C> T single nucleotide variant Likely benign rs374368486 GRCh38 Chromosome 19, 6712494: 6712494
43 C3 NM_000064.3(C3): c.443G> A (p.Arg148Gln) single nucleotide variant Uncertain significance rs886054657 GRCh37 Chromosome 19, 6718166: 6718166
44 C3 NM_000064.3(C3): c.443G> A (p.Arg148Gln) single nucleotide variant Uncertain significance rs886054657 GRCh38 Chromosome 19, 6718155: 6718155
45 C3 NM_000064.3(C3): c.4855A> C (p.Ser1619Arg) single nucleotide variant Likely benign rs2230210 GRCh38 Chromosome 19, 6678019: 6678019
46 C3 NM_000064.3(C3): c.4855A> C (p.Ser1619Arg) single nucleotide variant Likely benign rs2230210 GRCh37 Chromosome 19, 6678030: 6678030
47 C3 NM_000064.3(C3): c.4827C> T (p.Ser1609=) single nucleotide variant Uncertain significance rs150537373 GRCh38 Chromosome 19, 6678175: 6678175
48 C3 NM_000064.3(C3): c.4827C> T (p.Ser1609=) single nucleotide variant Uncertain significance rs150537373 GRCh37 Chromosome 19, 6678186: 6678186
49 C3 NM_000064.3(C3): c.4803C> T (p.His1601=) single nucleotide variant Uncertain significance rs762332809 GRCh38 Chromosome 19, 6678199: 6678199
50 C3 NM_000064.3(C3): c.4803C> T (p.His1601=) single nucleotide variant Uncertain significance rs762332809 GRCh37 Chromosome 19, 6678210: 6678210
Sources

Expression for Complement Component 3 Deficiency, Autosomal Recessive

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Search GEO for disease gene expression data for Complement Component 3 Deficiency, Autosomal Recessive.
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Pathways for Complement Component 3 Deficiency, Autosomal Recessive

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Sources

GO Terms for Complement Component 3 Deficiency, Autosomal Recessive

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Sources for Complement Component 3 Deficiency, Autosomal Recessive

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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