Complement Component 3 Deficiency, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

C3D MCID: CMP090 MIFTS: 43	Complement Component 3 Deficiency, Autosomal Recessive (C3D) Categories: Genetic diseases, Immune diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613779

MeSH ⁴³ D007154

MedGen ⁴⁰ C3151071

SNOMED-CT via HPO ⁶⁹ 128601007 236423003 42399005 more

UMLS ⁷¹ C0021053 C1332655

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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.

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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
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:

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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	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

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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

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 4

1401-55-4

16129878 16129778

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Morphine

Approved, Investigational

Phase 4

57-27-2

5288826

Aminosalicylic acid

Approved

Phase 4

65-49-6

4649

Mesalazine

Approved

Phase 4

89-57-6

4075

Azithromycin

Approved

Phase 4

83905-01-5

447043

Anti-Anxiety Agents

Phase 4

Psychotropic Drugs

Phase 4

Anesthetics, Intravenous

Phase 4

Anesthetics, General

Phase 4

GABA Modulators

Phase 4

Analgesics, Opioid

Phase 4

Narcotics

Phase 4

Antirheumatic Agents

Phase 4

Antitubercular Agents

Phase 4

Anti-Inflammatory Agents

Phase 4

Anti-Inflammatory Agents, Non-Steroidal

Phase 4

Analgesics, Non-Narcotic

Phase 4

Analgesics

Phase 4

Anti-Bacterial Agents

Phase 4

Anti-Infective Agents

Phase 4

Antiviral Agents

Phase 4

Immunologic Factors

Phase 4

Immunoglobulins

Phase 4

Antibodies

Phase 4

Vaccines

Phase 4

Heptavalent Pneumococcal Conjugate Vaccine

Phase 4

Abrocitinib

Approved, Investigational

Phase 3

1622902-68-4

78323835

Pentoxifylline

Approved, Investigational

Phase 3

6493-05-6

4740

Aluminum sulfate

Approved

Phase 3

10043-01-3

Aluminum hydroxide

Approved, Investigational

Phase 3

21645-51-2

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

50-18-0, 6055-19-2

2907

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 3

67-97-0, 1406-16-2

5280795 10883523

Glutamic acid

Approved, Nutraceutical

Phase 3

56-86-0

33032

D-Tyrosine

Approved, Experimental, Investigational, Nutraceutical

Phase 3

133585-56-5, 60-18-4, 556-02-5

1153 6057

Abetimus

Investigational

Phase 3

167362-48-3

Immunoglobulin A

Phase 3

Antibiotics, Antitubercular

Phase 3

Protein Kinase Inhibitors

Phase 3

Antioxidants

Phase 3

Radiation-Protective Agents

Phase 3

Phosphodiesterase Inhibitors

Phase 3

Vasodilator Agents

Phase 3

Platelet Aggregation Inhibitors

Phase 3

Protective Agents

Phase 3

Insulin, Globin Zinc

Phase 3

Insulin

Phase 3

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

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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

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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

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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	Tsukamoto H...Harada M	15781264	2005
2	Homozygous hereditary C3 deficiency due to a partial gene deletion. ⁶² ⁵⁷ ⁵	Botto M...Walport MJ	1350678	1992
3	Molecular basis of polymorphisms of human complement component C3. ⁵⁷ ⁵	Botto M...Walport MJ	1976733	1990
4	Homozygous deficiency of C3 in a patient with repeated infections. ⁵⁷ ⁵	Alper CA...Gear JS	4117597	1972
5	Inherited C3 deficiency with recurrent infections and glomerulonephritis. ⁶² ⁵⁷	Borzy MS...Lovrien E	2963536	1988
6	Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome. ⁶² ⁵⁷	McLean RH...Rothfield NF	7369233	1980
7	Complement deficiency and nephritis. A report of a family. ⁶² ⁵⁷	Pussell BA...Peters DK	6103091	1980
8	Partial lipodystrophy and familial C3 deficiency. ⁶² ⁵⁷	McLean RH...Hoefnagel D	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	Osofsky SG...Gewurz H	318684	1977
10	Hereditary dysfunction of the third component of complement associated with a systemic lupus erythematosus-like syndrome and meningococcal meningitis. ⁵⁷	Nilsson UR...Hallgren R	1575793	1992
11	Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement. ⁵⁷	Berger M...Frank MM	6835307	1983
12	Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms. ⁵⁷	Sano Y...Igata A	7306227	1981
13	A family with partial and total deficiency of complement C3. ⁵⁷	Grace HJ...Schonland M	1251291	1976
14	C3-dependent effector functions of complement. ⁶²	Zarantonello A...Roumenina LT	36271889	2022
15	The yin and the yang of early classical pathway complement disorders. ⁶²	Sullivan KE	35648651	2022
16	Complement C3 deficiency alleviates alkylation-induced retinal degeneration in mice. ⁶²	Du L...Peng GH	35676725	2022
17	Dysregulation of the Enteric Nervous System in the Mid Colon of Complement Component 3 Knockout Mice with Constipation Phenotypes. ⁶²	Choi YJ...Hwang DY	35743302	2022
18	Promotion of the inflammatory response in mid colon of complement component 3 knockout mice. ⁶²	Choi YJ...Hwang DY	35105928	2022
19	Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene. ⁶²	Coelho PS...Neves JF	36299691	2022
20	Reduced Neutrophil Extracellular Trap Formation During Ischemia Reperfusion Injury in C3 KO Mice: C3 Requirement for NETs Release. ⁶²	Wu X...Wan J	35250972	2022
21	Intracellular C3 prevents hepatic steatosis by promoting autophagy and very-low-density lipoprotein secretion. ⁶²	Li Y...Zhou H	34762761	2021
22	Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome. ⁶²	Al-Mayouf SM...Al-Mousa H	33563058	2021
23	C3 Deficiency Leads to Increased Angiogenesis and Elevated Pro-Angiogenic Leukocyte Recruitment in Ischemic Muscle Tissue. ⁶²	Gotz P...Deindl E	34071589	2021
24	Complement activation promoted by the lectin pathway mediates C3aR-dependent sarcoma progression and immunosuppression. ⁶²	Magrini E...Garlanda C	34505065	2021
25	C3 Drives Inflammatory Skin Carcinogenesis Independently of C5. ⁶²	Jackson WD...Botto M	32682912	2021
26	Complement Inhibition Alleviates Cholestatic Liver Injury Through Mediating Macrophage Infiltration and Function in Mice. ⁶²	Guo Z...He S	35069557	2021
27	Deficiency of complement component 3 may be linked to the development of constipation in FVB/N-C3em1Hlee /Korl mice. ⁶²	Park JW...Hwang DY	33337564	2021
28	Complement C3 deficiency ameliorates aging related changes in the kidney. ⁶²	Wu X...Wan J	32882264	2020
29	Combined liver-kidney transplantation for rare diseases. ⁶²	Knotek M...Mrzljak A	33200012	2020
30	Loss of decay-accelerating factor triggers podocyte injury and glomerulosclerosis. ⁶²	Angeletti A...Cravedi P	32717081	2020
31	Complement component 3 prevents imiquimod-induced psoriatic skin inflammation by inhibiting apoptosis in mice. ⁶²	Zheng QY...Xu GL	32535539	2020
32	Successful simultaneous liver-kidney transplantation for renal failure associated with hereditary complement C3 deficiency. ⁶²	Nayagam JS...Suddle A	31970896	2020
33	The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan. ⁶²	Qureshi S...Qamar FN	32793328	2020
34	IgE Contributes to Atherosclerosis and Obesity by Affecting Macrophage Polarization, Macrophage Protein Network, and Foam Cell Formation. ⁶²	Zhang X...Guo J	31996021	2020
35	Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration. ⁶²	Zysset-Burri DC...Zinkernagel MS	32922859	2020
36	Complement C3 activation regulates the production of tRNA-derived fragments Gly-tRFs and promotes alcohol-induced liver injury and steatosis. ⁶²	Zhong F...He S	31076642	2019
37	Safety profile after prolonged C3 inhibition. ⁶²	Reis ES...Lambris JD	30217791	2018
38	Complement Component C3 Promotes Cerebral Ischemia/Reperfusion Injury Mediated by TLR2/NFκB Activation in Diabetic Mice. ⁶²	Lin Z...Dai H	29948726	2018
39	C1q restrains autoimmunity and viral infection by regulating CD8+ T cell metabolism. ⁶²	Ling GS...Botto M	29724957	2018
40	IgG is elevated in obese white adipose tissue but does not induce glucose intolerance via Fcγ-receptor or complement. ⁶²	van Dam AD...van Harmelen V	28852207	2018
41	Reduced bone loss in a murine model of postmenopausal osteoporosis lacking complement component 3. ⁶²	MacKay DL...Dennis JE	28667799	2018
42	Complement C3 Affects Rac1 Activity in the Developing Brain. ⁶²	Gorelik A...Reiner O	29867343	2018
43	Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3. ⁶²	Omoyinmi E...Eleftheriou D	30443255	2018
44	Complement Dependence of Murine Costimulatory Blockade-Resistant Cellular Cardiac Allograft Rejection. ⁶²	Chun N...Heeger PS	28444847	2017
45	Interaction of extremophilic archaeal viruses with human and mouse complement system and viral biodistribution in mice. ⁶²	Wu L...Moghimi SM	28846925	2017
46	Hereditary Homozygous C3 Deficiency. ⁶²	Bathia JN...Guha S	28435995	2017
47	Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective. ⁶²	Harder JM...John SWM	28446616	2017
48	Complement C3 deficiency protects against neurodegeneration in aged plaque-rich APP/PS1 mice. ⁶²	Shi Q...Lemere CA	28566429	2017
49	Distinct contributions of complement factors to platelet activation and fibrin formation in venous thrombus development. ⁶²	Subramaniam S...Ruf W	28223279	2017
50	NLRP3 is Required for Complement-Mediated Caspase-1 and IL-1beta Activation in ICH. ⁶²	Yao ST...Ran QS	27933491	2017

Sources

Genes for Complement Component 3 Deficiency, Autosomal Recessive

Genes related to Complement Component 3 Deficiency, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	C3	Complement C3	Protein Coding	1225	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Likely pathogenic ⁵	1350678 1976733 4117597 (more) 15781264

Sources

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