C3D
MCID: CMP090
MIFTS: 43

Complement Component 3 Deficiency, Autosomal Recessive (C3D)

Categories: Genetic diseases, Immune diseases
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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 57 5 38
C3 Deficiency 57 28 5 71
C3d 57 73
Complement Component 3 Deficiency Autosomal Recessive 73
C3 Deficiency, Autosomal Recessive 57
Complement Component 3 Deficiency 73
C3 Deficiency Autosomal Recessive 73
Immune System Diseases 71

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or early childhood


Classifications:



External Ids:

OMIM® 57 613779
MeSH 43 D007154
MedGen 40 C3151071
UMLS 71 C0021053 C1332655

Summaries for Complement Component 3 Deficiency, Autosomal Recessive

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) (Updated 08-Dec-2022)

MalaCards based summary: Complement Component 3 Deficiency, Autosomal Recessive, also known as c3 deficiency, is related to systemic lupus erythematosus and chronic bilirubin encephalopathy, 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 Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include t cells, kidney and bone marrow, and related phenotypes are recurrent pneumonia and recurrent fever

UniProtKB/Swiss-Prot: 73 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 253)
# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 10.3
2 chronic bilirubin encephalopathy 10.3
3 glomerulonephritis 10.3
4 lupus erythematosus 10.3
5 systemic lupus erythematosus 1 10.2
6 newcastle disease 10.2
7 primary agammaglobulinemia 10.2
8 membranous nephropathy 10.2
9 pemphigoid 10.2
10 bullous pemphigoid 10.2
11 anemia, autoimmune hemolytic 10.1
12 iga glomerulonephritis 10.1
13 hemolytic anemia 10.1
14 iga nephropathy 1 10.1
15 hemolytic uremic syndrome, atypical 1 10.1
16 lymphoma 10.1
17 meningitis 10.1
18 immune deficiency disease 10.0
19 human immunodeficiency virus type 1 10.0
20 hemolytic-uremic syndrome 10.0
21 skin disease 10.0
22 vasculitis 10.0
23 complement deficiency 10.0
24 autoimmune disease 10.0
25 burkitt lymphoma 10.0
26 charge syndrome 10.0
27 diarrhea 10.0
28 candidiasis 10.0
29 mouth disease 10.0
30 complement component 3 deficiency 10.0
31 influenza 10.0
32 amyloidosis 10.0
33 pemphigus 10.0
34 d-minus hemolytic uremic syndrome 10.0
35 meningococcal infection 9.9
36 pneumococcal meningitis 9.9
37 spondyloarthropathy 1 9.9
38 b-cell growth factor 9.9
39 leukemia, chronic lymphocytic 9.9
40 otitis media 9.9
41 afibrinogenemia, congenital 9.9
42 macular degeneration, age-related, 1 9.9
43 cutaneous lupus erythematosus 9.9
44 swine influenza 9.9
45 acute erythroid leukemia 9.9
46 erythroleukemia 9.9
47 dermatomyositis 9.9
48 lipoid nephrosis 9.9
49 tetanus 9.9
50 diphtheria 9.9

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:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent pneumonia 30 Very rare (1%) HP:0006532
2 recurrent fever 30 Very rare (1%) HP:0001954
3 systemic lupus erythematosus 30 Very rare (1%) HP:0002725
4 recurrent bacterial infections 30 Very rare (1%) HP:0002718
5 decreased serum complement c3 30 Very rare (1%) HP:0005421
6 recurrent tonsillitis 30 Very rare (1%) HP:0011110
7 renal insufficiency 30 HP:0000083
8 nephrotic syndrome 30 HP:0000100

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 200)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
3
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5
Aminosalicylic acid Approved Phase 4 65-49-6 4649
6
Mesalazine Approved Phase 4 89-57-6 4075
7
Azithromycin Approved Phase 4 83905-01-5 447043
8 Anti-Anxiety Agents Phase 4
9 Psychotropic Drugs Phase 4
10 Anesthetics, Intravenous Phase 4
11 Anesthetics, General Phase 4
12 GABA Modulators Phase 4
13 Analgesics, Opioid Phase 4
14 Narcotics Phase 4
15 Antirheumatic Agents Phase 4
16 Antitubercular Agents Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Anti-Inflammatory Agents, Non-Steroidal Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Analgesics Phase 4
21 Anti-Bacterial Agents Phase 4
22 Anti-Infective Agents Phase 4
23 Antiviral Agents Phase 4
24 Immunologic Factors Phase 4
25 Immunoglobulins Phase 4
26 Antibodies Phase 4
27 Vaccines Phase 4
28 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
29
Abrocitinib Approved, Investigational Phase 3 1622902-68-4 78323835
30
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
31
Aluminum sulfate Approved Phase 3 10043-01-3
32
Aluminum hydroxide Approved, Investigational Phase 3 21645-51-2
33
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
34
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
35
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
36
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
37
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 3 133585-56-5, 60-18-4, 556-02-5 1153 6057
38
Abetimus Investigational Phase 3 167362-48-3
39 Immunoglobulin A Phase 3
40 Antibiotics, Antitubercular Phase 3
41 Protein Kinase Inhibitors Phase 3
42 Antioxidants Phase 3
43 Radiation-Protective Agents Phase 3
44 Phosphodiesterase Inhibitors Phase 3
45 Vasodilator Agents Phase 3
46 Platelet Aggregation Inhibitors Phase 3
47 Protective Agents Phase 3
48 Insulin, Globin Zinc Phase 3
49
Insulin Phase 3
50 Vitamins Phase 3

Interventional clinical trials:

(show top 50) (show all 164)
# Name Status NCT ID Phase Drugs
1 Normal Oxygenation Maintenance in Intensive Care Unit: Randomized Controlled Trial Unknown status NCT01319643 Phase 4 Oxygen
2 Effect of Midazolam on Inflammatory Response and Organ Function in Mechanically Ventilated Sepsis Patients With Different Immune Status. Unknown status NCT02135055 Phase 4 Midazolam;Morphine
3 Mesalamine to Reduce T Cell Activation in HIV Infection Completed NCT01090102 Phase 4 Mesalamine (5-aminosalicylic acid, Apriso);Placebo
4 Use of Traditional Chinese Medicine (Ren Shen Yang Rong Tang) Against Microinflammation in Hemodialysis Patients: A Quasi-randomized Controlled Trial Completed NCT02053740 Phase 4 Add R-S-Y-R-T (500 mg 3 times per day) for 6 months;Routine western medicine
5 Effects of Azithromycin Treatment on Anti-viral Immunity in Patients With Asthma and COPD - A Randomized Double-blind, Placebo-controlled Trial Recruiting NCT04319705 Phase 4 Azithromycin;Placebo oral tablet
6 Evaluation of Immune Response to Vaccines in Primary Immune Disorders Terminated NCT00023504 Phase 4
7 Methodology Study to Investigate the Utility of Retroviral Insertion Site Analysis in Samples From Subjects Treated With Strimvelis™ Gene Therapy Withdrawn NCT03311074 Phase 4
8 Effect of Early Oral Colostrum Administration Versus Placebo on the Immune System in Premature Newborns Under 32 Weeks of Gestation: A Randomized Clinical Trial. Unknown status NCT03578341 Phase 3
9 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Dupilumab Monotherapy in Patients ≥12 to <18 Years of Age, With Moderate-to-severe Atopic Dermatitis Completed NCT03054428 Phase 3 Dupilumab;Placebo
10 A PHASE 3 RANDOMIZED, DOUBLE-BLIND, DOUBLE-DUMMY, PLACEBO-CONTROLLED, PARALLEL GROUP, MULTI-CENTER STUDY INVESTIGATING THE EFFICACY AND SAFETY OF PF-04965842 AND DUPILUMAB IN COMPARISON WITH PLACEBO IN ADULT SUBJECTS ON BACKGROUND TOPICAL THERAPY, WITH MODERATE TO SEVERE ATOPIC DERMATITIS Completed NCT03720470 Phase 3 PF-04965842 100 mg;PF-04965842 200 mg;Dupilumab;Oral Placebo;Injectable Placebo
11 A PHASE 3 RANDOMIZED WITHDRAWAL, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTI-CENTER STUDY INVESTIGATING THE EFFICACY AND SAFETY OF PF-04965842 IN SUBJECTS AGED 12 YEARS AND OVER, WITH MODERATE TO SEVERE ATOPIC DERMATITIS WITH THE OPTION OF RESCUE TREATMENT IN FLARING SUBJECTS Completed NCT03627767 Phase 3 PF-04965842 100 mg;PF-04965842 200 mg;Placebo
12 Effectiveness of Pentoxifylline in Attenuating Neurological Disease Associated With HTLV-1 and Negative Modulator of Pathological Immune Response. Completed NCT01472263 Phase 3 Pentoxifylline;Placebo
13 T-Cell Depletion in Unrelated Donor Marrow Transplantation Completed NCT00000591 Phase 3
14 A Multi-Center, Randomized, Double Blind, Phase III Trial Evaluating Corticosteroids With Mycophenolate Mofetil vs. Corticosteroids With Placebo as Initial Systemic Treatment of Acute Graft-Vs-Host-Disease (BMT CTN #0802) Completed NCT01002742 Phase 3 Mycophenolate Mofetil;Placebo
15 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Safety and Efficacy Trial of LJP 394 in Systemic Lupus Erythematosus (SLE) Patients With a History of Renal Disease Completed NCT00035308 Phase 3 Abetimus sodium (LJP 394)
16 A Phase III, Randomized, Double-blind, Placebo-controlled, Multicenter Trial to Evaluate the Efficacy and Safety of Diamyd® to Preserve Endogenous Beta Cell Function in Adolescents and Adults With Recently Diagnosed Type 1 Diabetes, Carrying the Genetic HLA DR3-DQ2 Haplotype Recruiting NCT05018585 Phase 3
17 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study of Zilovertamab (an ROR1 Antibody) Plus Ibrutinib Versus Ibrutinib Plus Placebo in Subjects With Relapsed or Refractory Mantle Cell Lymphoma Not yet recruiting NCT05431179 Phase 3 Zilovertamab;Ibrutinib;Placebo
18 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
19 A Non-randomized, Open-label, Phase II Study of Chidamide Combined With R-GDP in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma (DLBCL) Not Suitable for Transplantation Unknown status NCT03373019 Phase 2 Chidamide combined with R-GDP
20 Efficacy and Safety of Levamisole Combined With Standard Prednisolone in Warm Antibody Autoimmune Hemolytic Anemia. Unknown status NCT01579110 Phase 2 levamisole;Prednisone
21 Multicenter Clinical Trial Evaluating the Immunological Response of Vaccination Against Infection by Human Papillomavirus (HPV) 6, 11, 16, 18 in Girls Receiving Immunosuppressive Therapy. Unknown status NCT01687192 Phase 2
22 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
23 Continuous Alloreactive T Cell Depletion and Regulatory T Cell Expansion for the Treatment of Steroid-refractory or Dependent Chronic GVHD Unknown status NCT02519816 Phase 2
24 Efficacy and Safety of Transplantation of Autologous Stem Cells Into Pancreatic Artery, Combined With Immunomodulation for the Treatment of Type 1 Diabetes Mellitus Completed NCT02644759 Phase 1, Phase 2
25 Phase II Study of First Line Treatment of Chronic Graft Versus Host Disease With Arsenic Trioxide Completed NCT02966301 Phase 2 Arsenic Trioxide Injectable Solution
26 High-dose Post-transplantation Cyclophosphamide as Graft Versus-host Disease Prophylaxis After Allogeneic Hematopoietic Stem Cell Transplantation Completed NCT02294552 Phase 2 Cyclophosphamide;Busulfan;Fludarabine monophosphate;Tacrolimus;Mycophenolate mofetil
27 A Phase IIb, 2-Arm, Randomized, Double-blind, Placebo-Controlled, Multicentre Study to Optimize Diamyd® Therapy Administered Into Lymph Nodes Combined With Oral Vitamin D to Investigate the Impact on the Progression of Type 1 Diabetes Completed NCT03345004 Phase 2
28 A Phase 2, Randomized, Double-blind, Parallel Group, Placebo Controlled Study to Evaluate the Effect of Tezepelumab on Airway Inflammation in Adults With Inadequately Controlled Asthma on Inhaled Corticosteroids and at Least One Additional Asthma Controller (CASCADE) Completed NCT03688074 Phase 2
29 Benralizumab Regulates Atopic Dermatitis Through Effects on Eosinophils, Basophils and Innate Lymphoid Type 2 Cells. Completed NCT03563066 Phase 2 Benralizumab;Placebo Control
30 Multicenter Clinical Trial Phase I / II Randomized, Placebo-controlled Study to Evaluate Safety and Feasibility of Therapy With Two Different Doses of Autologous Mesenchymal Stem Cells in Patients With Secondary Progressive Multiple Sclerosis Who do Not Respond to Treatment Completed NCT01056471 Phase 1, Phase 2
31 Extract Allergen From Betula Verrucosa. Test Sensitivity and Specificity of Diagnostic in Prick Test Preparation. Completed NCT02527187 Phase 2
32 Multicenter Clinical Trial Phase I/II Randomized, Controlled, for the Evaluation of Safety and Feasibility of Therapy With Two Different Doses of Allogenic Mesenchymal Stem Cells From Adipose Tissue in Patients With Chronic Graft Versus Host Disease. Completed NCT01222039 Phase 1, Phase 2
33 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
34 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy: a Prospective, Uncontrolled Pilot Study Completed NCT01727973 Phase 1, Phase 2 Doxycycline
35 A Phase 1b/2 Study to Evaluate the Safety, Pharmacokinetics, and Preliminary Efficacy of Isatuximab (SAR650984) in Patients Awaiting Kidney Transplantation Completed NCT04294459 Phase 1, Phase 2 Isatuximab SAR650984;Acetaminophen (paracetamol) or equivalent;Ranitidine or equivalent;Diphenhydramine or equivalent;Methylprednisolone or equivalent;Montelukast or equivalent
36 A Personalized Randomized Trial of Validation and Restoration of Immune Dysfunction in Severe Infections and Sepsis Completed NCT03332225 Phase 2 Anakinra;Recombinant human interferon-gamma;Placebo
37 Initial Systemic Treatment of Acute GVHD: A Phase II Randomized Trial Evaluating Etanercept, Mycophenolate Mofetil (MMF), Denileukin Diftitox (ONTAK), and Pentostatin in Combination With Corticosteroids (BMT CTN #0302) Completed NCT00224874 Phase 2 Etanercept;Mycophenolate Mofetil;Denileukin Diftitox;Pentostatin
38 A Single Centre, Open-label, Single-group Exploratory Study of the Safety and Activity of Sparsentan for the Treatment of Incident Patients With Immunoglobulin A Nephropathy Recruiting NCT04663204 Phase 2 Sparsentan
39 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity Recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
40 A Phase 2b, Double-Blind, Placebo-Controlled Study to Evaluate Peresolimab in Adult Participants With Moderately-to-Severely Active Rheumatoid Arthritis Recruiting NCT05516758 Phase 2 Peresolimab;Placebo
41 Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning -Closed with amendment L;Reduced Intensity Conditioning;Myeloablative Conditioning-Closed with amendment L;GVHD Prophylaxis
42 Phase Ib/II Study of the Administration of T Lymphocytes Expressing the CD30 Chimeric Antigen Receptor (CAR) for Relapsed/Refractory CD30+ Hodgkin's Lymphoma and CD30+ Non-Hodgkin's Lymphoma Recruiting NCT02690545 Phase 1, Phase 2
43 Administration of Autologous CAR-T Cells Targeting the CD19 Antigen and Containing the Inducible caspase9 Safety Switch in Patients With Relapsed/Refractory Acute Lymphoblastic Leukemia Recruiting NCT03016377 Phase 1, Phase 2 Rimiducid;Cyclophosphamide;Fludarabine
44 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning;Reduced Intensity Conditioning;GVHD Prophylaxis
45 The Effect of Subantimicrobial Dose Doxycycline in Mild Thyroid-Associated Ophthalmopathy Recruiting NCT02203682 Phase 2 Doxycycline hyclate;Placebo
46 A Phase I/II Trial of Reduced Intensity Conditioning and Familial HLA-Mismatched Bone Marrow Transplantation in Children With Non-Malignant Disorders Recruiting NCT03128996 Phase 1, Phase 2 RIC regimen;GVHD prophylaxis regimen
47 Phase I/II Randomized Clinical Study of Cycles of a New Formulated FMD in Prefrail Elderly. Recruiting NCT04928963 Phase 1, Phase 2
48 A Phase I/II Study of Human Placental Hematopoietic Stem Cell Derived Natural Killer Cells (CYNK-001) for the Treatment of Adults With COVID-19 Active, not recruiting NCT04365101 Phase 1, Phase 2
49 A Safety Trial of Lisocabtagene Maraleucel (JCAR017) for Relapsed and Refractory (R/R) B-cell Non-Hodgkin Lymphoma (NHL) in the Outpatient Setting Active, not recruiting NCT03744676 Phase 2
50 An Open-Label, First-in-Human Study Evaluating the Safety, Tolerability, and Efficacy of VCTX211 Combination Product in Subjects With Type 1 Diabetes Mellitus (T1D) Not yet recruiting NCT05565248 Phase 1, Phase 2

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

Genetic Tests for Complement Component 3 Deficiency, Autosomal Recessive

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

# Genetic test Affiliating Genes
1 C3 Deficiency 28

Anatomical Context for Complement Component 3 Deficiency, Autosomal Recessive

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

MalaCards : T Cells, Kidney, Bone Marrow, Whole Blood, Neutrophil, Breast, Bone
ODiseA: Kidney

Publications for Complement Component 3 Deficiency, Autosomal Recessive

Articles related to Complement Component 3 Deficiency, Autosomal Recessive:

(show top 50) (show all 185)
# Title Authors PMID Year
1
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 62 57 5
15781264 2005
2
Homozygous hereditary C3 deficiency due to a partial gene deletion. 62 57 5
1350678 1992
3
Molecular basis of polymorphisms of human complement component C3. 57 5
1976733 1990
4
Homozygous deficiency of C3 in a patient with repeated infections. 57 5
4117597 1972
5
Inherited C3 deficiency with recurrent infections and glomerulonephritis. 62 57
2963536 1988
6
Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome. 62 57
7369233 1980
7
Complement deficiency and nephritis. A report of a family. 62 57
6103091 1980
8
Partial lipodystrophy and familial C3 deficiency. 62 57
7358404 1980
9
Hereditary deficiency of the third component of complement in a child with fever, skin rash, and arthralgias: response to transfusion of whole blood. 62 57
318684 1977
10
Hereditary dysfunction of the third component of complement associated with a systemic lupus erythematosus-like syndrome and meningococcal meningitis. 57
1575793 1992
11
Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement. 57
6835307 1983
12
Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms. 57
7306227 1981
13
A family with partial and total deficiency of complement C3. 57
1251291 1976
14
C3-dependent effector functions of complement. 62
36271889 2022
15
The yin and the yang of early classical pathway complement disorders. 62
35648651 2022
16
Complement C3 deficiency alleviates alkylation-induced retinal degeneration in mice. 62
35676725 2022
17
Dysregulation of the Enteric Nervous System in the Mid Colon of Complement Component 3 Knockout Mice with Constipation Phenotypes. 62
35743302 2022
18
Promotion of the inflammatory response in mid colon of complement component 3 knockout mice. 62
35105928 2022
19
Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene. 62
36299691 2022
20
Reduced Neutrophil Extracellular Trap Formation During Ischemia Reperfusion Injury in C3 KO Mice: C3 Requirement for NETs Release. 62
35250972 2022
21
Intracellular C3 prevents hepatic steatosis by promoting autophagy and very-low-density lipoprotein secretion. 62
34762761 2021
22
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome. 62
33563058 2021
23
C3 Deficiency Leads to Increased Angiogenesis and Elevated Pro-Angiogenic Leukocyte Recruitment in Ischemic Muscle Tissue. 62
34071589 2021
24
Complement activation promoted by the lectin pathway mediates C3aR-dependent sarcoma progression and immunosuppression. 62
34505065 2021
25
C3 Drives Inflammatory Skin Carcinogenesis Independently of C5. 62
32682912 2021
26
Complement Inhibition Alleviates Cholestatic Liver Injury Through Mediating Macrophage Infiltration and Function in Mice. 62
35069557 2021
27
Deficiency of complement component 3 may be linked to the development of constipation in FVB/N-C3em1Hlee /Korl mice. 62
33337564 2021
28
Complement C3 deficiency ameliorates aging related changes in the kidney. 62
32882264 2020
29
Combined liver-kidney transplantation for rare diseases. 62
33200012 2020
30
Loss of decay-accelerating factor triggers podocyte injury and glomerulosclerosis. 62
32717081 2020
31
Complement component 3 prevents imiquimod-induced psoriatic skin inflammation by inhibiting apoptosis in mice. 62
32535539 2020
32
Successful simultaneous liver-kidney transplantation for renal failure associated with hereditary complement C3 deficiency. 62
31970896 2020
33
The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan. 62
32793328 2020
34
IgE Contributes to Atherosclerosis and Obesity by Affecting Macrophage Polarization, Macrophage Protein Network, and Foam Cell Formation. 62
31996021 2020
35
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration. 62
32922859 2020
36
Complement C3 activation regulates the production of tRNA-derived fragments Gly-tRFs and promotes alcohol-induced liver injury and steatosis. 62
31076642 2019
37
Safety profile after prolonged C3 inhibition. 62
30217791 2018
38
Complement Component C3 Promotes Cerebral Ischemia/Reperfusion Injury Mediated by TLR2/NFκB Activation in Diabetic Mice. 62
29948726 2018
39
C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. 62
29724957 2018
40
IgG is elevated in obese white adipose tissue but does not induce glucose intolerance via Fcγ-receptor or complement. 62
28852207 2018
41
Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3. 62
28667799 2018
42
Complement C3 Affects Rac1 Activity in the Developing Brain. 62
29867343 2018
43
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3. 62
30443255 2018
44
Complement Dependence of Murine Costimulatory Blockade-Resistant Cellular Cardiac Allograft Rejection. 62
28444847 2017
45
Interaction of extremophilic archaeal viruses with human and mouse complement system and viral biodistribution in mice. 62
28846925 2017
46
Hereditary Homozygous C3 Deficiency. 62
28435995 2017
47
Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective. 62
28446616 2017
48
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. 62
28566429 2017
49
Distinct contributions of complement factors to platelet activation and fibrin formation in venous thrombus development. 62
28223279 2017
50
NLRP3 is Required for Complement-Mediated Caspase-1 and IL-1beta Activation in ICH. 62
27933491 2017

Variations for Complement Component 3 Deficiency, Autosomal Recessive

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

5 (show top 50) (show all 147)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C3 NM_000064.4(C3):c.169_170del (p.Val57fs) DEL Pathogenic
599117 rs1568229677 GRCh37: 19:6719319-6719320
GRCh38: 19:6719308-6719309
2 C3 NM_000064.4(C3):c.2354+1G>A SNV Pathogenic
17058 GRCh37: 19:6702481-6702481
GRCh38: 19:6702470-6702470
3 C3 NC_000019.10:g.(6695981_6695999)_(6696810_6696831)del DEL Pathogenic
17059 GRCh37: 19:6695992-6696842
GRCh38: 19:6695981-6696831
4 C3 NM_000064.4(C3):c.4631-2A>G SNV Pathogenic
17064 rs111595742 GRCh37: 19:6678468-6678468
GRCh38: 19:6678457-6678457
5 C3 NM_000064.4(C3):c.2061dup (p.Lys688fs) DUP Likely Pathogenic
830031 rs1599518940 GRCh37: 19:6707270-6707271
GRCh38: 19:6707259-6707260
6 C3 NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) SNV Uncertain Significance
Uncertain Significance
330271 rs2230210 GRCh37: 19:6678030-6678030
GRCh38: 19:6678019-6678019
7 C3 NM_000064.4(C3):c.774-4G>A SNV Uncertain Significance
330335 rs368095422 GRCh37: 19:6713524-6713524
GRCh38: 19:6713513-6713513
8 C3 NM_000064.4(C3):c.2067G>A (p.Glu689=) SNV Uncertain Significance
330312 rs147477257 GRCh37: 19:6707265-6707265
GRCh38: 19:6707254-6707254
9 C3 NM_000064.4(C3):c.1303G>A (p.Glu435Lys) SNV Uncertain Significance
330326 rs774826179 GRCh37: 19:6711174-6711174
GRCh38: 19:6711163-6711163
10 C3 NM_000064.4(C3):c.4257G>A (p.Lys1419=) SNV Uncertain Significance
893471 rs768065757 GRCh37: 19:6682156-6682156
GRCh38: 19:6682145-6682145
11 C3 NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) SNV Uncertain Significance
633670 rs139100972 GRCh37: 19:6684423-6684423
GRCh38: 19:6684412-6684412
12 C3 NM_000064.4(C3):c.2157G>A (p.Ala719=) SNV Uncertain Significance
722778 rs143671993 GRCh37: 19:6707175-6707175
GRCh38: 19:6707164-6707164
13 C3 NM_000064.4(C3):c.2863+15G>T SNV Uncertain Significance
893831 rs759976981 GRCh37: 19:6696589-6696589
GRCh38: 19:6696578-6696578
14 C3 NM_000064.4(C3):c.2670C>G (p.Pro890=) SNV Uncertain Significance
893862 rs137956083 GRCh37: 19:6697481-6697481
GRCh38: 19:6697470-6697470
15 C3 NM_000064.4(C3):c.1119+10G>A SNV Uncertain Significance
753058 rs752328639 GRCh37: 19:6712509-6712509
GRCh38: 19:6712498-6712498
16 C3 NM_000064.4(C3):c.4824C>T (p.Ser1608=) SNV Uncertain Significance
758206 rs139457470 GRCh37: 19:6678189-6678189
GRCh38: 19:6678178-6678178
17 C3 NM_000064.4(C3):c.1480-4C>A SNV Uncertain Significance
894349 rs200965763 GRCh37: 19:6710860-6710860
GRCh38: 19:6710849-6710849
18 C3 NM_000064.4(C3):c.1470C>T (p.Tyr490=) SNV Uncertain Significance
894350 rs762635358 GRCh37: 19:6711007-6711007
GRCh38: 19:6710996-6710996
19 C3 NM_000064.4(C3):c.1098A>G (p.Pro366=) SNV Uncertain Significance
894380 rs757883156 GRCh37: 19:6712540-6712540
GRCh38: 19:6712529-6712529
20 C3 NM_000064.4(C3):c.4353C>G (p.Val1451=) SNV Uncertain Significance
892669 rs750821412 GRCh37: 19:6680272-6680272
GRCh38: 19:6680261-6680261
21 C3 NM_000064.4(C3):c.3687C>T (p.Asn1229=) SNV Uncertain Significance
330291 rs201108539 GRCh37: 19:6686258-6686258
GRCh38: 19:6686247-6686247
22 C3 NM_000064.4(C3):c.2799G>A (p.Pro933=) SNV Uncertain Significance
330299 rs149209011 GRCh37: 19:6696668-6696668
GRCh38: 19:6696657-6696657
23 C3 NM_000064.4(C3):c.4095C>G (p.Val1365=) SNV Uncertain Significance
330287 rs527830114 GRCh37: 19:6684596-6684596
GRCh38: 19:6684585-6684585
24 C3 NM_000064.4(C3):c.1758G>A (p.Glu586=) SNV Uncertain Significance
Uncertain Significance
330320 rs764201055 GRCh37: 19:6709782-6709782
GRCh38: 19:6709771-6709771
25 C3 NM_000064.4(C3):c.463A>C (p.Lys155Gln) SNV Uncertain Significance
Likely Benign
92162 rs147859257 GRCh37: 19:6718146-6718146
GRCh38: 19:6718135-6718135
26 C3 NM_000064.4(C3):c.2951-5_2951-3del MICROSAT Uncertain Significance
625901 rs544122376 GRCh37: 19:6694648-6694650
GRCh38: 19:6694637-6694639
27 C3 NM_000064.4(C3):c.1873A>T (p.Ile625Phe) SNV Uncertain Significance
330315 rs144432231 GRCh37: 19:6707913-6707913
GRCh38: 19:6707902-6707902
28 C3 NM_000064.4(C3):c.4645C>T (p.Leu1549=) SNV Uncertain Significance
732571 rs149202905 GRCh37: 19:6678452-6678452
GRCh38: 19:6678441-6678441
29 C3 NM_000064.4(C3):c.2797-5C>T SNV Uncertain Significance
892763 rs369673832 GRCh37: 19:6696675-6696675
GRCh38: 19:6696664-6696664
30 C3 NM_000064.4(C3):c.2583+9C>T SNV Uncertain Significance
719210 rs372400121 GRCh37: 19:6697654-6697654
GRCh38: 19:6697643-6697643
31 C3 NM_000064.4(C3):c.1296G>A (p.Ser432=) SNV Uncertain Significance
892903 rs760150621 GRCh37: 19:6711181-6711181
GRCh38: 19:6711170-6711170
32 C3 NM_000064.4(C3):c.835G>A (p.Glu279Lys) SNV Uncertain Significance
892936 rs146167974 GRCh37: 19:6713459-6713459
GRCh38: 19:6713448-6713448
33 C3 NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) SNV Uncertain Significance
330293 rs750654763 GRCh37: 19:6693026-6693026
GRCh38: 19:6693015-6693015
34 C3 NM_000064.4(C3):c.2861G>A (p.Arg954His) SNV Uncertain Significance
389714 rs139864704 GRCh37: 19:6696606-6696606
GRCh38: 19:6696595-6696595
35 C3 NM_000064.4(C3):c.2203C>T (p.Arg735Trp) SNV Uncertain Significance
330310 rs117793540 GRCh37: 19:6707129-6707129
GRCh38: 19:6707118-6707118
36 C3 NM_000064.4(C3):c.4767G>A (p.Lys1589=) SNV Uncertain Significance
330275 rs144589541 GRCh37: 19:6678246-6678246
GRCh38: 19:6678235-6678235
37 C3 NM_000064.4(C3):c.26T>C (p.Leu9Pro) SNV Uncertain Significance
872465 rs138214338 GRCh37: 19:6720575-6720575
GRCh38: 19:6720564-6720564
38 C3 NM_000064.3(C3):c.-75A>C SNV Uncertain Significance
894452 rs1316357912 GRCh37: 19:6720675-6720675
GRCh38: 19:6720664-6720664
39 C3 NM_000064.4(C3):c.1855G>A (p.Val619Met) SNV Uncertain Significance
330316 rs146613648 GRCh37: 19:6707931-6707931
GRCh38: 19:6707920-6707920
40 C3 NM_000064.4(C3):c.2450T>A (p.Val817Glu) SNV Uncertain Significance
330303 rs886054653 GRCh37: 19:6697796-6697796
GRCh38: 19:6697785-6697785
41 C3 NM_000064.4(C3):c.4030-4C>T SNV Uncertain Significance
330288 rs372612816 GRCh37: 19:6684665-6684665
GRCh38: 19:6684654-6684654
42 C3 NM_000064.4(C3):c.681C>T (p.Tyr227=) SNV Uncertain Significance
330337 rs756694755 GRCh37: 19:6714178-6714178
GRCh38: 19:6714167-6714167
43 C3 NM_000064.4(C3):c.4803C>T (p.His1601=) SNV Uncertain Significance
330274 rs762332809 GRCh37: 19:6678210-6678210
GRCh38: 19:6678199-6678199
44 C3 NM_000064.4(C3):c.1898A>G (p.Lys633Arg) SNV Uncertain Significance
330314 rs140655115 GRCh37: 19:6707888-6707888
GRCh38: 19:6707877-6707877
45 C3 NM_000064.4(C3):c.4827C>T (p.Ser1609=) SNV Uncertain Significance
330273 rs150537373 GRCh37: 19:6678186-6678186
GRCh38: 19:6678175-6678175
46 C3 NM_000064.4(C3):c.1767C>T (p.His589=) SNV Uncertain Significance
330319 rs775843240 GRCh37: 19:6709773-6709773
GRCh38: 19:6709762-6709762
47 C3 NM_000064.4(C3):c.2907C>T (p.Asp969=) SNV Uncertain Significance
330295 rs144672500 GRCh37: 19:6696433-6696433
GRCh38: 19:6696422-6696422
48 C3 NM_000064.4(C3):c.1119+14C>T SNV Uncertain Significance
330330 rs374368486 GRCh37: 19:6712505-6712505
GRCh38: 19:6712494-6712494
49 C3 NM_000064.4(C3):c.3993A>G (p.Thr1331=) SNV Uncertain Significance
330289 rs202210310 GRCh37: 19:6684822-6684822
GRCh38: 19:6684811-6684811
50 C3 NM_000064.4(C3):c.1042A>G (p.Ile348Val) SNV Uncertain Significance
330331 rs141737564 GRCh37: 19:6712596-6712596
GRCh38: 19:6712585-6712585

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

73
# Symbol AA change Variation ID SNP ID
1 C3 p.Asp549Asn VAR_001985 rs1449441916

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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