C3D
MCID: CMP090
MIFTS: 40

Complement Component 3 Deficiency, Autosomal Recessive (C3D)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Complement Component 3 Deficiency, Autosomal Recessive

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

Name: Complement Component 3 Deficiency, Autosomal Recessive 58 30 6 41
C3 Deficiency 58 60 30 13 6 74
Complement Component 3 Deficiency 60 76
Immune System Diseases 45 74
C3d 58 76
Complement Component 3 Deficiency Autosomal Recessive 76
C3 Deficiency, Autosomal Recessive 58
C3 Deficiency Autosomal Recessive 76

Characteristics:

Orphanet epidemiological data:

60
complement component 3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

33
complement component 3 deficiency, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 613779
MeSH 45 D007154
ICD10 via Orphanet 35 D84.1
UMLS via Orphanet 75 C3151071
Orphanet 60 ORPHA280133
MedGen 43 C3151071

Summaries for Complement Component 3 Deficiency, Autosomal Recessive

OMIM : 58 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 complement component 3 deficiency, 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 Immunologic Factors and Complement System Proteins have been mentioned in the context of this disorder. Affiliated tissues include tonsil, t cells and b cells, and related phenotypes are membranoproliferative glomerulonephritis and renal insufficiency

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Complement Component 3 Deficiency, Autosomal Recessive

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 immune system disease 12.5
2 complement component 3 deficiency 11.7
3 immune deficiency disease 11.7
4 complement factor i deficiency 11.3
5 autoimmune disease 10.9
6 temporal arteritis 10.9
7 autoinflammation, panniculitis, and dermatosis syndrome 10.9
8 allergic hypersensitivity disease 10.9
9 lymphatic system disease 10.9
10 herpes zoster 10.9
11 vasculitis syndromes of the central and peripheral nervous systems 10.9
12 systemic lupus erythematosus 10.1
13 lymphoma 10.1
14 newcastle disease 10.1
15 iga glomerulonephritis 10.1
16 anemia, autoimmune hemolytic 10.1
17 membranous nephropathy 10.1
18 hemolytic anemia 10.1
19 lupus erythematosus 10.1
20 rheumatoid arthritis 10.0
21 human immunodeficiency virus type 1 10.0
22 influenza 10.0
23 allergic encephalomyelitis 10.0
24 meningitis 10.0
25 b-cell growth factor 9.8
26 burkitt lymphoma 9.8
27 buerger disease 9.8
28 diabetes mellitus, insulin-dependent 9.8
29 disorganization, mouse, homolog of 9.8
30 asthma 9.8
31 macular degeneration, age-related, 1 9.8
32 langerhans cell histiocytosis 9.8
33 autoimmune disease 1 9.8
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
35 microvascular complications of diabetes 5 9.8
36 adult t-cell leukemia 9.8
37 arthritis 9.8
38 diabetes mellitus 9.8
39 follicular lymphoma 9.8
40 glomerulonephritis 9.8
41 hepatitis 9.8
42 ischemic heart disease 9.8
43 leukemia 9.8
44 skin disease 9.8
45 swine influenza 9.8
46 bacterial infectious disease 9.8
47 heart disease 9.8
48 diphtheria 9.8
49 rift valley fever 9.8
50 coccidioidomycosis 9.8

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



Diseases related to Complement Component 3 Deficiency, Autosomal Recessive

Symptoms & Phenotypes for Complement Component 3 Deficiency, Autosomal Recessive

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 membranoproliferative glomerulonephritis 33 very rare (1%) HP:0000793
2 renal insufficiency 33 HP:0000083
3 nephrotic syndrome 33 HP:0000100
4 recurrent bacterial infections 33 HP:0002718
5 systemic lupus erythematosus 33 HP:0002725
6 decreased serum complement c3 33 HP:0005421

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
nephrotic syndrome
renal failure
membranoproliferative glomerulonephritis (in about 26%)

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

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


pathological conditions, signs and symptoms

Drugs & Therapeutics for Complement Component 3 Deficiency, Autosomal Recessive

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4,Phase 2,Phase 1
2 Complement System Proteins Phase 4,Phase 2
3 Antibodies Phase 4,Phase 2,Phase 1
4 Complement C3 Phase 4,Phase 2,Phase 1
5 Immunoglobulins Phase 4,Phase 2,Phase 1
6 Antibodies, Monoclonal Phase 4,Phase 2,Phase 1
7 Immunoglobulins, Intravenous Phase 4
8 Complement C5 Phase 4
9 Rho(D) Immune Globulin Phase 4
10 gamma-Globulins Phase 4
11 Thymoglobulin Phase 4
12
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
13
rituximab Approved Phase 2,Phase 1 174722-31-7 10201696
14
ofatumumab Approved Phase 2 679818-59-8 6918251
15
Trametinib Approved Phase 2 871700-17-3 11707110
16
Durvalumab Approved, Investigational Phase 2 1428935-60-7
17
Tremelimumab Investigational Phase 2 745013-59-6
18 Bendamustine Hydrochloride Phase 2
19 Alkylating Agents Phase 2
20 Immunoglobulin G Phase 2
21 Nitrogen Mustard Compounds Phase 2
22 Antineoplastic Agents, Alkylating Phase 2
23 Protein Kinase Inhibitors Phase 2
24 Vaccines Phase 2,Phase 1
25 Janus Kinase Inhibitors Phase 2
26 Antineoplastic Agents, Immunological Phase 2,Phase 1
27
Everolimus Approved Phase 1 159351-69-6 70789204 6442177
28
Sirolimus Approved, Investigational Phase 1 53123-88-9 46835353 5284616 6436030
29
Coal tar Approved Phase 1 8007-45-2
30
Ipilimumab Approved Phase 1 477202-00-9
31
nivolumab Approved Phase 1 946414-94-4
32
Trifluridine Approved, Investigational Phase 1 70-00-8 6256
33
Oxaliplatin Approved, Investigational Phase 1 61825-94-3 43805 6857599 5310940 9887054
34
Bevacizumab Approved, Investigational Phase 1 216974-75-3
35
Idelalisib Approved Phase 1 870281-82-6
36
Venetoclax Approved, Investigational Phase 1 1257044-40-8 49846579
37
Docetaxel Approved, Investigational Phase 1 114977-28-5 148124
38
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
39
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
40 Laxatives Phase 1
41 Anti-Infective Agents Phase 1
42 interferons Phase 1
43 Gastrointestinal Agents Phase 1,Not Applicable
44 Poly I-C Phase 1
45 Cathartics Phase 1
46 Poly ICLC Phase 1
47 Interferon Inducers Phase 1
48 Antirheumatic Agents Phase 1
49 Carboxymethylcellulose Sodium Phase 1
50 Antiviral Agents Phase 1

Interventional clinical trials:

(show all 26)
# 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 Topical Ruxolitinib for Cutaneous Chronic Graft Versus Host Disease (cGVHD) Recruiting NCT03395340 Phase 2 Ruxolitinib 1.5% cream;Vehicle cream
7 A Study to Investigate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Immunogenicity of TAK-573 in Participants With Refractory Multiple Myeloma Recruiting NCT03215030 Phase 1, Phase 2 TAK-573
8 An Efficacy and Safety Study of Imlifidase in Treatment of Antibody-Mediated Rejection in Kidney Transplant Patients Recruiting NCT03897205 Phase 2 Imlifidase
9 A Study of Abemaciclib in Recurrent Glioblastoma Active, not recruiting NCT02981940 Phase 2 Abemaciclib
10 PolyImmune {Durvalumab (MEDI4736) and Tremelimumab} & Vaccine Orchestrated Treatment for Patients With Advanced/Metastatic Renal Cell Carcinoma Not yet recruiting NCT03598816 Phase 2 Durvalumab;Tremelimumab
11 Targeting Complement Activation in Antineutrophil Cytoplasmic Autoantibodies (ANCA)-Vasculitis - Eculizumab Withdrawn NCT01275287 Phase 2 Standard of care treatment;eculizumab
12 A Trial To Assess Safety And Tolerability Of PF-04691502 In Cancer Patients Completed NCT00927823 Phase 1 PF-04691502
13 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
14 Phase I Safety Study of Dendritic Cell Vaccine to Treat Patients With Hepatocellular Carcinoma Completed NCT01974661 Phase 1
15 Nivolumab, Ipilimumab and OTSGC-A24 Therapeutic Peptide Vaccine in Gastric Cancer - a Combination Immunotherapy Phase Ib Study. Recruiting NCT03784040 Phase 1 OTSGC-A24;Nivolumab;Ipilimumab
16 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
17 Personalized Tumor Vaccine Strategy and PD-1 Blockade in Patients With Follicular Lymphoma Recruiting NCT03121677 Phase 1 Poly ICLC
18 Study of S 95005 in Combination With Oxaliplatin in Metastatic Colorectal Cancer Active, not recruiting NCT02848443 Phase 1 Trifluridine/tipiracil hydrochloride (S 95005);Oxaliplatin;Bevacizumab;Nivolumab
19 Rituximab, Idelalisib, and Venetoclax in Relapsed/Refractory CLL Not yet recruiting NCT03639324 Phase 1 Rituximab, Idelalisib, and Venetoclax
20 Clinical Study of Relapsed/Refractory Chronic Lymphocytic Leukemia (CLL) Suspended NCT02117336 Phase 1 P1446A-05
21 A Phase 1b Study of PEGylated Recombinant Human Hyaluronidase (PEGPH20) Combined With Docetaxel in Subjects With Recurrent Previously Treated Locally Advanced or Metastatic NSCLC Terminated NCT02346370 Phase 1 PEGylated recombinant human hyaluronidase PH20;Docetaxel
22 Complement-activating Anti-human Leucocyte Antigen Donor Specific Antibodies in Solid Organ Transplantation Completed NCT03438058
23 Prospective Study of Fusion Rates Using Spira-C Device for Anterior Cervical Discectomy and Fusion Surgery Recruiting NCT03786432 Not Applicable
24 Minimal Residual Disease in Peripheral T-cell Lymphoma Recruiting NCT03297697
25 Impact of Sunitinib Bioavailability on Toxicity and Treatment Efficacy in Patients Treated for Metastatic Renal Cancer Not yet recruiting NCT03846128
26 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

Genetic Tests for Complement Component 3 Deficiency, Autosomal Recessive

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

# Genetic test Affiliating Genes
1 Complement Component 3 Deficiency, Autosomal Recessive 30 C3
2 C3 Deficiency 30

Anatomical Context for Complement Component 3 Deficiency, Autosomal Recessive

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

42
Tonsil, T Cells, B Cells, Spinal Cord, Kidney, Heart, Breast

Publications for Complement Component 3 Deficiency, Autosomal Recessive

Articles related to Complement Component 3 Deficiency, Autosomal Recessive:

(show top 50) (show all 56)
# Title Authors Year
1
Hereditary Homozygous C3 Deficiency. ( 28435995 )
2017
2
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. ( 28566429 )
2017
3
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. ( 26435005 )
2016
4
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. ( 26847111 )
2016
5
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. ( 27029069 )
2016
6
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. ( 25559179 )
2015
7
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency. ( 23963626 )
2014
8
Human complement C3 deficiency: Th1 induction requires T cell-derived complement C3a and CD46 activation. ( 24321396 )
2014
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
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. ( 21501302 )
2011
12
Complement C3 deficiency prevent against the onset of streptozotocin-induced autoimmune diabetes involving expansion of regulatory T cells. ( 21767994 )
2011
13
Complement C3 deficiency attenuates chronic hypoxia-induced pulmonary hypertension in mice. ( 22194859 )
2011
14
Effects of C3 deficiency on inflammation and regeneration following spinal cord injury in mice. ( 20800648 )
2010
15
Screening for C3 deficiency in newborns using microarrays. ( 19390687 )
2009
16
Recurrent meningitis secondary to isolated C3 deficiency. ( 19391010 )
2009
17
[An exceptional component C3 deficiency revealed by serum protein electrophoresis]. ( 19939777 )
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
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. ( 18802120 )
2008
21
Recurrent meningitis in a family with C3 deficiency. ( 16585828 )
2006
22
Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. ( 15734841 )
2005
23
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. ( 15781264 )
2005
24
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. ( 16158444 )
2005
25
Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. ( 14639503 )
2004
26
Effect of complement component C3 deficiency on experimental Lyme borreliosis in mice. ( 12874322 )
2003
27
Recurrent pneumococcal meningitis in homozygous C3 deficiency. ( 12173704 )
2002
28
Influence of C3 deficiency on atherosclerosis. ( 12081998 )
2002
29
Homozygous hereditary C3 deficiency due to a premature stop codon. ( 12462331 )
2002
30
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. ( 11139258 )
2001
31
Hereditary human complement C3 deficiency owing to reduced levels of C3 mRNA. ( 11422912 )
2001
32
Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. ( 9510185 )
1998
33
Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. ( 9176087 )
1997
34
Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred. ( 8938101 )
1996
35
Compound heterozygous complement C3 deficiency. ( 7890305 )
1995
36
A hereditary C3 deficiency due to aberrant splicing of exon 10. ( 7923934 )
1994
37
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. ( 7961791 )
1994
38
Inherited complement C3 deficiency: a defect in C3 secretion. ( 8026514 )
1994
39
Complement C3 deficiency: human, animal, and experimental models. ( 8031472 )
1994
40
Homozygous hereditary C3 deficiency due to a partial gene deletion. ( 1350678 )
1992
41
An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies. ( 1544226 )
1992
42
Inherited C3 deficiency and meningococcal disease in a teenager. ( 1630861 )
1992
43
Homozygous C3 deficiency associated with IgA nephropathy. ( 1944729 )
1991
44
Molecular basis of complement C3 deficiency in guinea pigs. ( 1973176 )
1990
45
Molecular basis of hereditary C3 deficiency. ( 2212005 )
1990
46
Molecular basis of polymorphisms of human complement component C3. ( 1976733 )
1990
47
Inherited C3 deficiency with recurrent infections and glomerulonephritis. ( 2963536 )
1988
48
Inherited C3 deficiency of the complement system. ( 3264513 )
1988
49
C3 deficiency presenting as Raynaud's phenomenon in a 6-year-old girl with a persistent erythematous rash. ( 3742869 )
1986
50
Selective C3 deficiency due to C3 nephritic factor in an apparently healthy girl. ( 3834579 )
1985

Variations for Complement Component 3 Deficiency, Autosomal Recessive

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

76
# Symbol AA change Variation ID SNP ID
1 C3 p.Asp549Asn VAR_001985 rs144944191

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

6 (show top 50) (show all 161)
# Gene Variation Type Significance SNP ID Assembly Location
1 C3 NM_000064.3(C3): c.941C> T (p.Pro314Leu) single nucleotide variant Benign rs1047286 GRCh37 Chromosome 19, 6713262: 6713262
2 C3 NM_000064.3(C3): c.941C> T (p.Pro314Leu) single nucleotide variant Benign rs1047286 GRCh38 Chromosome 19, 6713251: 6713251
3 C3 C3, 61-BP DEL, EX18 deletion Pathogenic
4 C3 NG_009557.1: g.(28821_28842)_(29653_29671)del deletion Pathogenic GRCh38 Chromosome 19, 6695981: 6696831
5 C3 NG_009557.1: g.(28821_28842)_(29653_29671)del deletion Pathogenic GRCh37 Chromosome 19, 6695992: 6696842
6 C3 NM_000064.3(C3): c.4631-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 19, 6678457: 6678457
7 C3 NM_000064.3(C3): c.4631-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 19, 6678468: 6678468
8 C3 NM_000064.3(C3): c.463A> C (p.Lys155Gln) single nucleotide variant Uncertain significance rs147859257 GRCh37 Chromosome 19, 6718146: 6718146
9 C3 NM_000064.3(C3): c.463A> C (p.Lys155Gln) single nucleotide variant Uncertain significance rs147859257 GRCh38 Chromosome 19, 6718135: 6718135
10 C3 NM_000064.3(C3): c.4941G> A (p.Gln1647=) single nucleotide variant Uncertain significance rs780251209 GRCh38 Chromosome 19, 6677933: 6677933
11 C3 NM_000064.3(C3): c.4941G> A (p.Gln1647=) single nucleotide variant Uncertain significance rs780251209 GRCh37 Chromosome 19, 6677944: 6677944
12 C3 NM_000064.3(C3): c.4896C> T (p.Pro1632=) single nucleotide variant Benign rs17030 GRCh38 Chromosome 19, 6677978: 6677978
13 C3 NM_000064.3(C3): c.4896C> T (p.Pro1632=) single nucleotide variant Benign rs17030 GRCh37 Chromosome 19, 6677989: 6677989
14 C3 NM_000064.3(C3): c.4767G> A (p.Lys1589=) single nucleotide variant Likely benign rs144589541 GRCh38 Chromosome 19, 6678235: 6678235
15 C3 NM_000064.3(C3): c.4767G> A (p.Lys1589=) single nucleotide variant Likely benign rs144589541 GRCh37 Chromosome 19, 6678246: 6678246
16 C3 NM_000064.3(C3): c.4631-9C> T single nucleotide variant Likely benign rs116302413 GRCh38 Chromosome 19, 6678464: 6678464
17 C3 NM_000064.3(C3): c.4631-9C> T single nucleotide variant Likely benign rs116302413 GRCh37 Chromosome 19, 6678475: 6678475
18 C3 NM_000064.3(C3): c.4535G> A (p.Arg1512His) single nucleotide variant Uncertain significance rs142868256 GRCh38 Chromosome 19, 6679418: 6679418
19 C3 NM_000064.3(C3): c.4535G> A (p.Arg1512His) single nucleotide variant Uncertain significance rs142868256 GRCh37 Chromosome 19, 6679429: 6679429
20 C3 NM_000064.3(C3): c.4457-4G> A single nucleotide variant Benign rs2277984 GRCh38 Chromosome 19, 6679500: 6679500
21 C3 NM_000064.3(C3): c.4457-4G> A single nucleotide variant Benign rs2277984 GRCh37 Chromosome 19, 6679511: 6679511
22 C3 NM_000064.3(C3): c.4030-4C> T single nucleotide variant Likely benign rs372612816 GRCh38 Chromosome 19, 6684654: 6684654
23 C3 NM_000064.3(C3): c.4030-4C> T single nucleotide variant Likely benign rs372612816 GRCh37 Chromosome 19, 6684665: 6684665
24 C3 NM_000064.3(C3): c.3753C> A (p.Pro1251=) single nucleotide variant Benign rs2230209 GRCh38 Chromosome 19, 6686181: 6686181
25 C3 NM_000064.3(C3): c.3753C> A (p.Pro1251=) single nucleotide variant Benign rs2230209 GRCh37 Chromosome 19, 6686192: 6686192
26 C3 NM_000064.3(C3): c.3216G> T (p.Arg1072=) single nucleotide variant Likely benign rs137880434 GRCh38 Chromosome 19, 6693426: 6693426
27 C3 NM_000064.3(C3): c.3216G> T (p.Arg1072=) single nucleotide variant Likely benign rs137880434 GRCh37 Chromosome 19, 6693437: 6693437
28 C3 NM_000064.3(C3): c.2799G> A (p.Pro933=) single nucleotide variant Likely benign rs149209011 GRCh38 Chromosome 19, 6696657: 6696657
29 C3 NM_000064.3(C3): c.2799G> A (p.Pro933=) single nucleotide variant Likely benign rs149209011 GRCh37 Chromosome 19, 6696668: 6696668
30 C3 NM_000064.3(C3): c.2700C> G (p.Ile900Met) single nucleotide variant Uncertain significance rs763155610 GRCh38 Chromosome 19, 6697440: 6697440
31 C3 NM_000064.3(C3): c.2700C> G (p.Ile900Met) single nucleotide variant Uncertain significance rs763155610 GRCh37 Chromosome 19, 6697451: 6697451
32 C3 NM_000064.3(C3): c.2430G> A (p.Ser810=) single nucleotide variant Benign rs2230207 GRCh38 Chromosome 19, 6702137: 6702137
33 C3 NM_000064.3(C3): c.2430G> A (p.Ser810=) single nucleotide variant Benign rs2230207 GRCh37 Chromosome 19, 6702148: 6702148
34 C3 NM_000064.3(C3): c.2421G> C (p.Val807=) single nucleotide variant Benign rs428453 GRCh38 Chromosome 19, 6702146: 6702146
35 C3 NM_000064.3(C3): c.2421G> C (p.Val807=) single nucleotide variant Benign rs428453 GRCh37 Chromosome 19, 6702157: 6702157
36 C3 NM_000064.3(C3): c.2246-8C> T single nucleotide variant Benign rs406514 GRCh38 Chromosome 19, 6702587: 6702587
37 C3 NM_000064.3(C3): c.2246-8C> T single nucleotide variant Benign rs406514 GRCh37 Chromosome 19, 6702598: 6702598
38 C3 NM_000064.3(C3): c.2048-14_2048-13del deletion Benign rs140718871 GRCh38 Chromosome 19, 6707286: 6707287
39 C3 NM_000064.3(C3): c.2048-14_2048-13del deletion Benign rs140718871 GRCh37 Chromosome 19, 6707297: 6707298
40 C3 NM_000064.3(C3): c.1819A> G (p.Lys607Glu) single nucleotide variant Uncertain significance rs140637006 GRCh38 Chromosome 19, 6709710: 6709710
41 C3 NM_000064.3(C3): c.1819A> G (p.Lys607Glu) single nucleotide variant Uncertain significance rs140637006 GRCh37 Chromosome 19, 6709721: 6709721
42 C3 NM_000064.3(C3): c.1758G> A (p.Glu586=) single nucleotide variant Uncertain significance rs764201055 GRCh38 Chromosome 19, 6709771: 6709771
43 C3 NM_000064.3(C3): c.1758G> A (p.Glu586=) single nucleotide variant Uncertain significance rs764201055 GRCh37 Chromosome 19, 6709782: 6709782
44 C3 NM_000064.3(C3): c.1692G> A (p.Val564=) single nucleotide variant Benign rs2230204 GRCh38 Chromosome 19, 6709837: 6709837
45 C3 NM_000064.3(C3): c.1692G> A (p.Val564=) single nucleotide variant Benign rs2230204 GRCh37 Chromosome 19, 6709848: 6709848
46 C3 NM_000064.3(C3): c.1119+14C> T single nucleotide variant Likely benign rs374368486 GRCh37 Chromosome 19, 6712505: 6712505
47 C3 NM_000064.3(C3): c.1119+14C> T single nucleotide variant Likely benign rs374368486 GRCh38 Chromosome 19, 6712494: 6712494
48 C3 NM_000064.3(C3): c.443G> A (p.Arg148Gln) single nucleotide variant Uncertain significance rs886054657 GRCh37 Chromosome 19, 6718166: 6718166
49 C3 NM_000064.3(C3): c.443G> A (p.Arg148Gln) single nucleotide variant Uncertain significance rs886054657 GRCh38 Chromosome 19, 6718155: 6718155
50 C3 NM_000064.3(C3): c.4855A> C (p.Ser1619Arg) single nucleotide variant Likely benign rs2230210 GRCh38 Chromosome 19, 6678019: 6678019

Expression for Complement Component 3 Deficiency, Autosomal Recessive

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

Pathways for Complement Component 3 Deficiency, Autosomal Recessive

GO Terms for Complement Component 3 Deficiency, Autosomal Recessive

Sources for Complement Component 3 Deficiency, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....