C3D
MCID: CMP090
MIFTS: 45

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 57 29 6 39
C3 Deficiency 57 58 29 13 6 70
Complement Component 3 Deficiency 58 72
Immune System Diseases 44 70
C3d 57 72
Complement Component 3 Deficiency Autosomal Recessive 72
C3 Deficiency, Autosomal Recessive 57
C3 Deficiency Autosomal Recessive 72

Characteristics:

Orphanet epidemiological data:

58
complement component 3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

31
complement component 3 deficiency, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 613779
MeSH 44 D007154
ICD10 via Orphanet 33 D84.1
UMLS via Orphanet 71 C3151071
Orphanet 58 ORPHA280133
MedGen 41 C3151071
UMLS 70 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 20-May-2021)

MalaCards based summary : Complement Component 3 Deficiency, Autosomal Recessive, also known as c3 deficiency, is related to immune system disease and herpes zoster, 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 Midazolam and Morphine have been mentioned in the context of this disorder. Affiliated tissues include t cells, kidney and bone marrow, and related phenotypes are membranoproliferative glomerulonephritis and renal insufficiency

UniProtKB/Swiss-Prot : 72 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 192)
# Related Disease Score Top Affiliating Genes
1 immune system disease 11.2
2 herpes zoster 11.0
3 glomerulonephritis 10.2
4 lupus erythematosus 10.2
5 systemic lupus erythematosus 10.2
6 newcastle disease 10.2
7 membranous nephropathy 10.2
8 pemphigoid 10.2
9 anemia, autoimmune hemolytic 10.1
10 iga glomerulonephritis 10.1
11 hemolytic anemia 10.1
12 bullous pemphigoid 10.1
13 meningitis 10.1
14 immune deficiency disease 10.0
15 human immunodeficiency virus type 1 10.0
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
17 hemolytic-uremic syndrome 10.0
18 skin disease 10.0
19 complement deficiency 10.0
20 mollaret meningitis 10.0
21 burkitt lymphoma 10.0
22 bacterial infectious disease 10.0
23 diarrhea 10.0
24 candidiasis 10.0
25 complement component 3 deficiency 10.0
26 vasculitis 10.0
27 pemphigus 10.0
28 attention deficit-hyperactivity disorder 10.0
29 neisseria meningitidis infection 9.9
30 pneumococcal meningitis 9.9
31 autoimmune disease 9.9
32 b-cell growth factor 9.9
33 otitis media 9.9
34 schistosoma mansoni infection, susceptibility/ 9.9
35 hemolytic uremic syndrome, atypical 1 9.9
36 macular degeneration, age-related, 1 9.9
37 proteinuria, chronic benign 9.9
38 cutaneous lupus erythematosus 9.9
39 swine influenza 9.9
40 acute erythroid leukemia 9.9
41 dermatomyositis 9.9
42 tetanus 9.9
43 diphtheria 9.9
44 inflammatory spondylopathy 9.9
45 plica syndrome 9.9
46 crescentic glomerulonephritis 9.9
47 schistosomiasis 9.9
48 chronic mucocutaneous candidiasis 9.9
49 synovitis 9.9
50 epidermolysis bullosa 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 membranoproliferative glomerulonephritis 31 very rare (1%) HP:0000793
2 renal insufficiency 31 HP:0000083
3 nephrotic syndrome 31 HP:0000100
4 systemic lupus erythematosus 31 HP:0002725
5 recurrent bacterial infections 31 HP:0002718
6 decreased serum complement c3 31 HP:0005421

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 178)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
4
Azithromycin Approved Phase 4 83905-01-5 55185 447043
5 Neurotransmitter Agents Phase 4
6 Antibodies, Monoclonal Phase 4
7 Hypnotics and Sedatives Phase 4
8 Psychotropic Drugs Phase 4
9 Narcotics Phase 4
10 Anesthetics, General Phase 4
11 Anesthetics, Intravenous Phase 4
12 Anti-Anxiety Agents Phase 4
13 GABA Modulators Phase 4
14 Analgesics, Opioid Phase 4
15 Mesalamine Phase 4 89-57-6
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Immunoglobulins Phase 4
18 Antibodies Phase 4
19 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
20 Anti-Infective Agents Phase 4
21 Anti-Bacterial Agents Phase 4
22 Antiviral Agents Phase 4
23
Omalizumab Approved, Investigational Phase 3 242138-07-4
24
Budesonide Approved Phase 3 51333-22-3 63006 5281004
25
tannic acid Approved Phase 3 1401-55-4
26
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
27
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
28
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
29
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
30
Abetimus Investigational Phase 3 167362-48-3
31 Adrenergic beta-Agonists Phase 3
32 Adrenergic Agonists Phase 3
33 Formoterol Fumarate Phase 3
34 Adrenergic Agents Phase 3
35 Budesonide, Formoterol Fumarate Drug Combination Phase 3
36 Bronchodilator Agents Phase 3
37 Protective Agents Phase 3
38 Vasodilator Agents Phase 3
39 Phosphodiesterase Inhibitors Phase 3
40 Antioxidants Phase 3
41 Platelet Aggregation Inhibitors Phase 3
42 Radiation-Protective Agents Phase 3
43 Immunoglobulin A Phase 3
44 Immunoglobulins, Intravenous Phase 3
45 Alkylating Agents Phase 2, Phase 3
46 Immunosuppressive Agents Phase 2, Phase 3
47 Thymoglobulin Phase 2, Phase 3
48
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
49
Gemcitabine Approved Phase 2 95058-81-4 60750
50
Levamisole Approved, Investigational, Vet_approved, Withdrawn Phase 2 14769-73-4 26879

Interventional clinical trials:

(show top 50) (show all 139)
# 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 Recruiting 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 A Comparative Study of Efficacy and Safety of Genolar® and Xolar® in Treating Patients With Moderate to Severe Persistent Atopic Bronchial Asthma Inadequately Controlled With Stage 4 GINA (2017) Treatment Completed NCT04607629 Phase 3
9 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
10 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
11 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
12 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)
13 T-Cell Depletion in Unrelated Donor Marrow Transplantation Completed NCT00000591 Phase 3
14 Effectiveness of Pentoxifylline in Attenuating Neurological Disease Associated With HTLV-1 and Negative Modulator of Pathological Immune Response. Completed NCT01472263 Phase 3 Pentoxifylline;Placebo
15 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
16 Effect of Early Oral Colostrum Administration Versus Placebo on the Immune System in Premature Newborns Under 32 Weeks of Gestation: A Randomized Clinical Trial. Active, not recruiting NCT03578341 Phase 3
17 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
18 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
19 Efficacy and Safety of Levamisole Combined With Standard Prednisolone in Warm Antibody Autoimmune Hemolytic Anemia. Unknown status NCT01579110 Phase 2 levamisole;Prednisone
20 Benralizumab Regulates Atopic Dermatitis Through Effects on Eosinophils, Basophils and Innate Lymphoid Type 2 Cells. Unknown status NCT03563066 Phase 2 Benralizumab;Placebo Control
21 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
22 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
23 The Effect of Subantimicrobial Dose Doxycycline in Mild Graves' Orbitopathy Unknown status NCT02203682 Phase 2 Doxycycline;placebo
24 Extract Allergen From Betula Verrucosa. Test Sensitivity and Specificity of Diagnostic in Prick Test Preparation Completed NCT02527187 Phase 2
25 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 Phase II Study of First Line Treatment of Chronic Graft Versus Host Disease With Arsenic Trioxide Completed NCT02966301 Phase 2 Arsenic Trioxide Injectable Solution
34 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
35 A Phase I/II Study of Human Placental Hematopoietic Stem Cell Derived Natural Killer Cells (CYNK 001) in Multiple Myeloma Patients Following Autologous Stem Cell Transplant in the Front-line Setting. Recruiting NCT04309084 Phase 1, Phase 2
36 A Phase 1b/2 Study to Evaluate the Safety, Pharmacokinetics, and Preliminary Efficacy of Isatuximab (SAR650984) in Patients Awaiting Kidney Transplantation Recruiting NCT04294459 Phase 1, Phase 2 Isatuximab SAR650984;Acetaminophen (paracetamol) or equivalent;Ranitidine or equivalent;Diphenhydramine or equivalent;Methylprednisolone or equivalent;Montelukast or equivalent
37 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
38 A Safety Trial of Lisocabtagene Maraleucel (JCAR017) for Relapsed and Refractory (R/R) B-cell Non-Hodgkin Lymphoma (NHL) in the Outpatient Setting Recruiting NCT03744676 Phase 2
39 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
40 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
41 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immunodeficiency Diseases Recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
42 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Peripheral T Cell Lymphoma Recruiting NCT03922724 Phase 2 IOC;GVHD prophylaxis;RIC;mRIC;ATL-RIC
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 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
45 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 Recruiting NCT04365101 Phase 1, Phase 2
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 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, 16-Week Trial to Evaluate the Efficacy and Safety of FB-401 in Children, Adolescent and Adult Subjects (Ages 2 Years and Older) With Mild to Moderate Atopic Dermatitis Active, not recruiting NCT04504279 Phase 2
48 Continuous Alloreactive T Cell Depletion and Regulatory T Cell Expansion for the Treatment of Steroid-refractory or Dependent Chronic GVHD Active, not recruiting NCT02519816 Phase 2
49 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 Active, not recruiting NCT03345004 Phase 2
50 Vitamin D Deficiency Causes Immune Dysfunction and Enables or Perpetuates the Development of Rheumatoid Arthritis: Clinical Trial and Investigations on Dendritic Cells Withdrawn NCT00279461 Phase 2 Placebo in arm A and Vitamin D in arm B;vitamin D 3 for arm A ,and matching placebo for arm B

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 29 C3
2 C3 Deficiency 29

Anatomical Context for Complement Component 3 Deficiency, Autosomal Recessive

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

40
T Cells, Kidney, Bone Marrow, Bone, Skin, Neutrophil, Whole Blood

Publications for Complement Component 3 Deficiency, Autosomal Recessive

Articles related to Complement Component 3 Deficiency, Autosomal Recessive:

(show top 50) (show all 174)
# Title Authors PMID Year
1
Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 61 57 6
15781264 2005
2
Homozygous hereditary C3 deficiency due to a partial gene deletion. 61 57 6
1350678 1992
3
Molecular basis of polymorphisms of human complement component C3. 6 57
1976733 1990
4
Homozygous deficiency of C3 in a patient with repeated infections. 57 6
4117597 1972
5
Inherited C3 deficiency with recurrent infections and glomerulonephritis. 61 57
2963536 1988
6
Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome. 61 57
7369233 1980
7
Complement deficiency and nephritis. A report of a family. 57 61
6103091 1980
8
Partial lipodystrophy and familial C3 deficiency. 57 61
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. 57 61
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
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome. 61
33563058 2021
15
C3 Drives Inflammatory Skin Carcinogenesis Independently of C5. 61
32682912 2021
16
Deficiency of complement component 3 may be linked to the development of constipation in FVB/N-C3em1Hlee /Korl mice. 61
33337564 2021
17
Complement C3 deficiency ameliorates aging related changes in the kidney. 61
32882264 2020
18
Combined liver-kidney transplantation for rare diseases. 61
33200012 2020
19
Loss of decay-accelerating factor triggers podocyte injury and glomerulosclerosis. 61
32717081 2020
20
Successful simultaneous liver-kidney transplantation for renal failure associated with hereditary complement C3 deficiency. 61
31970896 2020
21
Complement component 3 prevents imiquimod-induced psoriatic skin inflammation by inhibiting apoptosis in mice. 61
32535539 2020
22
The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan. 61
32793328 2020
23
IgE Contributes to Atherosclerosis and Obesity by Affecting Macrophage Polarization, Macrophage Protein Network, and Foam Cell Formation. 61
31996021 2020
24
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration. 61
32922859 2020
25
Complement C3 activation regulates the production of tRNA-derived fragments Gly-tRFs and promotes alcohol-induced liver injury and steatosis. 61
31076642 2019
26
Safety profile after prolonged C3 inhibition. 61
30217791 2018
27
Complement Component C3 Promotes Cerebral Ischemia/Reperfusion Injury Mediated by TLR2/NFκB Activation in Diabetic Mice. 61
29948726 2018
28
C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. 61
29724957 2018
29
IgG is elevated in obese white adipose tissue but does not induce glucose intolerance via Fcγ-receptor or complement. 61
28852207 2018
30
Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3. 61
28667799 2018
31
Complement C3 Affects Rac1 Activity in the Developing Brain. 61
29867343 2018
32
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3. 61
30443255 2018
33
Complement Dependence of Murine Costimulatory Blockade-Resistant Cellular Cardiac Allograft Rejection. 61
28444847 2017
34
Interaction of extremophilic archaeal viruses with human and mouse complement system and viral biodistribution in mice. 61
28846925 2017
35
Hereditary Homozygous C3 Deficiency. 61
28435995 2017
36
Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. 61
28566429 2017
37
Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective. 61
28446616 2017
38
Distinct contributions of complement factors to platelet activation and fibrin formation in venous thrombus development. 61
28223279 2017
39
NLRP3 is Required for Complement-Mediated Caspase-1 and IL-1beta Activation in ICH. 61
27933491 2017
40
Complement component 3 deficiency prolongs MHC-II disparate skin allograft survival by increasing the CD4(+) CD25(+) regulatory T cells population. 61
27641978 2016
41
Complement and Antibody-mediated Enhancement of Red Blood Cell Invasion and Growth of Malaria Parasites. 61
27333049 2016
42
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency. 61
26847111 2016
43
C3 deficiency ameliorates the negative effects of irradiation of the young brain on hippocampal development and learning. 61
27029069 2016
44
Deficiency of the Complement Component 3 but Not Factor B Aggravates Staphylococcus aureus Septic Arthritis in Mice. 61
26787717 2016
45
Efficacy of Targeted Complement Inhibition in Experimental C3 Glomerulopathy. 61
26047789 2016
46
Clinical characteristics and genotype-phenotype correlations in C3 deficiency. 61
26435005 2016
47
Modulation of post-stroke degenerative and regenerative processes and subacute protection by site-targeted inhibition of the alternative pathway of complement. 61
26714866 2015
48
Dysregulation of adaptive immune responses in complement C3-deficient patients. 61
25446578 2015
49
rs2230201 polymorphism may dictate complement C3 levels and response to treatment in chronic hepatitis C patients. 61
24995942 2015
50
Complement deficiency promotes cutaneous wound healing in mice. 61
25548229 2015

Variations for Complement Component 3 Deficiency, Autosomal Recessive

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

6 (show top 50) (show all 135)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C3 C3, 61-BP DEL, EX18 Deletion Pathogenic 17058 GRCh37:
GRCh38:
2 C3 NM_000064.4(C3):c.4631-2A>G SNV Pathogenic 17064 rs111595742 GRCh37: 19:6678468-6678468
GRCh38: 19:6678457-6678457
3 C3 NM_000064.4(C3):c.169_170del (p.Val57fs) Deletion Pathogenic 599117 rs1568229677 GRCh37: 19:6719319-6719320
GRCh38: 19:6719308-6719309
4 C3 NC_000019.10:g.(6695981_6695999)_(6696810_6696831)del Deletion Pathogenic 17059 GRCh37: 19:6695992-6696842
GRCh38: 19:6695981-6696831
5 C3 NM_000064.4(C3):c.2061dup (p.Lys688fs) Duplication Likely pathogenic 830031 rs1599518940 GRCh37: 19:6707270-6707271
GRCh38: 19:6707259-6707260
6 C3 NC_000019.10:g.6720664T>G SNV Uncertain significance 894452 GRCh37: 19:6720675-6720675
GRCh38: 19:6720664-6720664
7 C3 NM_000064.4(C3):c.4824C>T (p.Ser1608=) SNV Uncertain significance 758206 rs139457470 GRCh37: 19:6678189-6678189
GRCh38: 19:6678178-6678178
8 C3 NM_000064.4(C3):c.4645C>T (p.Leu1549=) SNV Uncertain significance 732571 rs149202905 GRCh37: 19:6678452-6678452
GRCh38: 19:6678441-6678441
9 C3 NM_000064.4(C3):c.2583+9C>T SNV Uncertain significance 719210 rs372400121 GRCh37: 19:6697654-6697654
GRCh38: 19:6697643-6697643
10 C3 NM_000064.4(C3):c.2157G>A (p.Ala719=) SNV Uncertain significance 722778 rs143671993 GRCh37: 19:6707175-6707175
GRCh38: 19:6707164-6707164
11 C3 NM_000064.4(C3):c.1119+10G>A SNV Uncertain significance 753058 rs752328639 GRCh37: 19:6712509-6712509
GRCh38: 19:6712498-6712498
12 C3 NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) SNV Uncertain significance 330293 rs750654763 GRCh37: 19:6693026-6693026
GRCh38: 19:6693015-6693015
13 C3 NM_000064.4(C3):c.4850+12C>A SNV Uncertain significance 330272 rs748416799 GRCh37: 19:6678151-6678151
GRCh38: 19:6678140-6678140
14 C3 NM_000064.4(C3):c.1164C>T (p.Pro388=) SNV Uncertain significance 330328 rs769368306 GRCh37: 19:6712373-6712373
GRCh38: 19:6712362-6712362
15 C3 NM_000064.4(C3):c.2646C>T (p.His882=) SNV Uncertain significance 893863 GRCh37: 19:6697505-6697505
GRCh38: 19:6697494-6697494
16 C3 NM_000064.4(C3):c.2617T>C (p.Cys873Arg) SNV Uncertain significance 894778 GRCh37: 19:6697534-6697534
GRCh38: 19:6697523-6697523
17 C3 NM_000064.4(C3):c.2584G>T (p.Val862Leu) SNV Uncertain significance 894779 GRCh37: 19:6697567-6697567
GRCh38: 19:6697556-6697556
18 C3 NM_000064.4(C3):c.2951-5_2951-3del Microsatellite Uncertain significance 625901 rs544122376 GRCh37: 19:6694648-6694650
GRCh38: 19:6694637-6694639
19 C3 NM_000064.4(C3):c.2857G>A (p.Gly953Ser) SNV Uncertain significance 330298 rs779124363 GRCh37: 19:6696610-6696610
GRCh38: 19:6696599-6696599
20 C3 NM_000064.4(C3):c.4827C>T (p.Ser1609=) SNV Uncertain significance 330273 rs150537373 GRCh37: 19:6678186-6678186
GRCh38: 19:6678175-6678175
21 C3 NM_000064.4(C3):c.2700C>G (p.Ile900Met) SNV Uncertain significance 330302 rs763155610 GRCh37: 19:6697451-6697451
GRCh38: 19:6697440-6697440
22 C3 NM_000064.4(C3):c.2907C>T (p.Asp969=) SNV Uncertain significance 330295 rs144672500 GRCh37: 19:6696433-6696433
GRCh38: 19:6696422-6696422
23 C3 NM_000064.4(C3):c.1119+14C>T SNV Uncertain significance 330330 rs374368486 GRCh37: 19:6712505-6712505
GRCh38: 19:6712494-6712494
24 C3 NM_000064.4(C3):c.1855G>A (p.Val619Met) SNV Uncertain significance 330316 rs146613648 GRCh37: 19:6707931-6707931
GRCh38: 19:6707920-6707920
25 C3 NM_000064.4(C3):c.3993A>G (p.Thr1331=) SNV Uncertain significance 330289 rs202210310 GRCh37: 19:6684822-6684822
GRCh38: 19:6684811-6684811
26 C3 NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) SNV Uncertain significance 330284 rs147116781 GRCh37: 19:6681983-6681983
GRCh38: 19:6681972-6681972
27 C3 NM_000064.4(C3):c.2799G>A (p.Pro933=) SNV Uncertain significance 330299 rs149209011 GRCh37: 19:6696668-6696668
GRCh38: 19:6696657-6696657
28 C3 NM_000064.4(C3):c.3687C>T (p.Asn1229=) SNV Uncertain significance 330291 rs201108539 GRCh37: 19:6686258-6686258
GRCh38: 19:6686247-6686247
29 C3 NM_000064.4(C3):c.4095C>G (p.Val1365=) SNV Uncertain significance 330287 rs527830114 GRCh37: 19:6684596-6684596
GRCh38: 19:6684585-6684585
30 C3 NM_000064.4(C3):c.1758G>A (p.Glu586=) SNV Uncertain significance 330320 rs764201055 GRCh37: 19:6709782-6709782
GRCh38: 19:6709771-6709771
31 C3 NM_000064.4(C3):c.2861G>A (p.Arg954His) SNV Uncertain significance 389714 rs139864704 GRCh37: 19:6696606-6696606
GRCh38: 19:6696595-6696595
32 C3 NM_000064.4(C3):c.26T>C (p.Leu9Pro) SNV Uncertain significance 872465 GRCh37: 19:6720575-6720575
GRCh38: 19:6720564-6720564
33 C3 NM_000064.4(C3):c.681C>T (p.Tyr227=) SNV Uncertain significance 330337 rs756694755 GRCh37: 19:6714178-6714178
GRCh38: 19:6714167-6714167
34 C3 NM_000064.4(C3):c.1898A>G (p.Lys633Arg) SNV Uncertain significance 330314 rs140655115 GRCh37: 19:6707888-6707888
GRCh38: 19:6707877-6707877
35 C3 NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) SNV Uncertain significance 330271 rs2230210 GRCh37: 19:6678030-6678030
GRCh38: 19:6678019-6678019
36 C3 NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) SNV Uncertain significance 330271 rs2230210 GRCh37: 19:6678030-6678030
GRCh38: 19:6678019-6678019
37 C3 NM_000064.4(C3):c.2450T>A (p.Val817Glu) SNV Uncertain significance 330303 rs886054653 GRCh37: 19:6697796-6697796
GRCh38: 19:6697785-6697785
38 C3 NM_000064.4(C3):c.4120+8G>T SNV Uncertain significance 330286 rs886054652 GRCh37: 19:6684563-6684563
GRCh38: 19:6684552-6684552
39 C3 NM_000064.4(C3):c.2403G>A (p.Thr801=) SNV Uncertain significance 330306 rs886054654 GRCh37: 19:6702175-6702175
GRCh38: 19:6702164-6702164
40 C3 NM_000064.4(C3):c.463A>C (p.Lys155Gln) SNV Uncertain significance 92162 rs147859257 GRCh37: 19:6718146-6718146
GRCh38: 19:6718135-6718135
41 C3 NM_000064.4(C3):c.1767C>T (p.His589=) SNV Uncertain significance 330319 rs775843240 GRCh37: 19:6709773-6709773
GRCh38: 19:6709762-6709762
42 C3 NM_000064.4(C3):c.1873A>T (p.Ile625Phe) SNV Uncertain significance 330315 rs144432231 GRCh37: 19:6707913-6707913
GRCh38: 19:6707902-6707902
43 C3 NM_000064.4(C3):c.1042A>G (p.Ile348Val) SNV Uncertain significance 330331 rs141737564 GRCh37: 19:6712596-6712596
GRCh38: 19:6712585-6712585
44 C3 NM_000064.4(C3):c.4803C>T (p.His1601=) SNV Uncertain significance 330274 rs762332809 GRCh37: 19:6678210-6678210
GRCh38: 19:6678199-6678199
45 C3 NM_000064.4(C3):c.774-4G>A SNV Uncertain significance 330335 rs368095422 GRCh37: 19:6713524-6713524
GRCh38: 19:6713513-6713513
46 C3 NM_000064.4(C3):c.1819A>G (p.Lys607Glu) SNV Uncertain significance 330318 rs140637006 GRCh37: 19:6709721-6709721
GRCh38: 19:6709710-6709710
47 C3 NM_000064.4(C3):c.2067G>A (p.Glu689=) SNV Uncertain significance 330312 rs147477257 GRCh37: 19:6707265-6707265
GRCh38: 19:6707254-6707254
48 C3 NM_000064.4(C3):c.1303G>A (p.Glu435Lys) SNV Uncertain significance 330326 rs774826179 GRCh37: 19:6711174-6711174
GRCh38: 19:6711163-6711163
49 C3 NM_000064.4(C3):c.443G>A (p.Arg148Gln) SNV Uncertain significance 330340 rs886054657 GRCh37: 19:6718166-6718166
GRCh38: 19:6718155-6718155
50 C3 NM_000064.4(C3):c.4535G>A (p.Arg1512His) SNV Uncertain significance 330281 rs142868256 GRCh37: 19:6679429-6679429
GRCh38: 19:6679418-6679418

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

72
# Symbol AA change Variation ID SNP ID
1 C3 p.Asp549Asn VAR_001985 rs144944191

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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