MCID: CMP040
MIFTS: 34

Complement Component 4, Partial Deficiency of

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Complement Component 4, Partial Deficiency of

MalaCards integrated aliases for Complement Component 4, Partial Deficiency of:

Name: Complement Component 4, Partial Deficiency of 57 29 13 6 39
C1 Inhibitor Deficiency 58
Angioedemas, Hereditary 70

Characteristics:

Orphanet epidemiological data:

58
c1 inhibitor deficiency
Inheritance: Autosomal dominant;

OMIM®:

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


HPO:

31
complement component 4, partial deficiency of:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 120790
ICD10 via Orphanet 33 D84.1
Orphanet 58 ORPHA459353
MedGen 41 C1852700
SNOMED-CT via HPO 68 263681008 55464009
UMLS 70 C0019243

Summaries for Complement Component 4, Partial Deficiency of

MalaCards based summary : Complement Component 4, Partial Deficiency of, also known as c1 inhibitor deficiency, is related to c1 inhibitor deficiency and hereditary angioedema. An important gene associated with Complement Component 4, Partial Deficiency of is SERPING1 (Serpin Family G Member 1). The drugs Ciprofloxacin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include endothelial, small intestine and neutrophil, and related phenotype is systemic lupus erythematosus.

More information from OMIM: 120790

Related Diseases for Complement Component 4, Partial Deficiency of

Diseases related to Complement Component 4, Partial Deficiency of via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 c1 inhibitor deficiency 11.6
2 hereditary angioedema 11.5
3 hereditary angioedema with c1inh deficiency 11.4
4 acquired angioedema 11.4
5 angioedema induced by ace inhibitors 11.3
6 acquired angioedema with c1inh deficiency 11.3
7 angioedema 11.1
8 angioedema, hereditary, type i 10.4
9 lupus erythematosus 10.4
10 systemic lupus erythematosus 10.4
11 lymphoma, hodgkin, classic 10.3
12 lymphoma, non-hodgkin, familial 10.3
13 marginal zone b-cell lymphoma 10.3
14 splenic marginal zone lymphoma 10.3
15 lymphoproliferative syndrome 10.3
16 b-cell lymphoma 10.3
17 monoclonal gammopathy of uncertain significance 10.3
18 lymphoma 10.2
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
20 autoimmune disease 10.1
21 leukemia, chronic lymphocytic 10.1
22 sjogren syndrome 10.1
23 covid-19 10.1
24 diarrhea 10.1
25 facial paralysis 10.1
26 echinococcosis 10.1
27 urticaria 10.1
28 cryoglobulinemia 10.1
29 lymphoid hemopathy 10.1
30 cryoglobulinemia, familial mixed 9.9
31 intussusception 9.9
32 melkersson-rosenthal syndrome 9.9
33 myositis 9.9
34 triiodothyronine receptor auxiliary protein 9.9
35 anemia, autoimmune hemolytic 9.9
36 celiac disease 1 9.9
37 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
38 anxiety 9.9
39 endometrial cancer 9.9
40 systemic lupus erythematosus 6 9.9
41 hydrops, lactic acidosis, and sideroblastic anemia 9.9
42 exanthem 9.9
43 mantle cell lymphoma 9.9
44 lymphoplasmacytic lymphoma 9.9
45 follicular lymphoma 9.9
46 alexithymia 9.9
47 non-alcoholic fatty liver disease 9.9
48 chronic spontaneous urticaria 9.9
49 urinary tract infection 9.9
50 dermatomyositis 9.9

Graphical network of the top 20 diseases related to Complement Component 4, Partial Deficiency of:



Diseases related to Complement Component 4, Partial Deficiency of

Symptoms & Phenotypes for Complement Component 4, Partial Deficiency of

Human phenotypes related to Complement Component 4, Partial Deficiency of:

31
# Description HPO Frequency HPO Source Accession
1 systemic lupus erythematosus 31 HP:0002725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
systemic lupus erythematosus
partial c4 deficiency

Clinical features from OMIM®:

120790 (Updated 20-May-2021)

Drugs & Therapeutics for Complement Component 4, Partial Deficiency of

Drugs for Complement Component 4, Partial Deficiency of (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
2
Metronidazole Approved Phase 4 443-48-1 4173
3
Vancomycin Approved Phase 4 1404-90-6 441141 14969
4 Anti-Infective Agents Phase 4
5 Anti-Bacterial Agents Phase 4
6 Antiparasitic Agents Phase 4
7 Antibiotics, Antitubercular Phase 4
8 Antiprotozoal Agents Phase 4
9 Cytochrome P-450 Enzyme Inhibitors Phase 4
10
Tranexamic Acid Approved Phase 3 1197-18-8 5526
11
tannic acid Approved Phase 3 1401-55-4
12
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
13
Icatibant Approved, Investigational Phase 3 130308-48-4, 138614-30-9 71364
14
Bradykinin Investigational Phase 3 58-82-2 439201
15 Kallikreins Phase 3
16 Pharmaceutical Solutions Phase 2, Phase 3
17 Fibrinolytic Agents Phase 3
18 Antifibrinolytic Agents Phase 3
19 Coagulants Phase 3
20 Hemostatics Phase 3
21 Passionflower Phase 3
22 Immunosuppressive Agents Phase 3
23 Kininogens Phase 3
24 Immunoglobulins Phase 3
25 Antibodies Phase 3
26 Antirheumatic Agents Phase 3
27 Anti-Inflammatory Agents Phase 3
28 Bradykinin Receptor Antagonists Phase 3
29 Anti-Inflammatory Agents, Non-Steroidal Phase 3
30 Analgesics Phase 3
31 Analgesics, Non-Narcotic Phase 3
32 Antibodies, Monoclonal Phase 3
33 Immunoglobulin G Phase 3
34 Immunoglobulins, Intravenous Phase 3
35 Plasminogen Phase 2
36
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
37
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
38
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
39
Tolbutamide Approved, Investigational Phase 1 64-77-7 5505
40
Digoxin Approved Phase 1 20830-75-5 30322 2724385
41
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
42
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
43 Adrenergic Antagonists Phase 1
44 Adrenergic beta-Antagonists Phase 1
45 Adrenergic Agents Phase 1
46 Neurotransmitter Agents Phase 1
47 Rosuvastatin Calcium Phase 1 147098-20-2
48 Antimetabolites Phase 1
49 Anticholesteremic Agents Phase 1
50 Anti-Arrhythmia Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 101)
# Name Status NCT ID Phase Drugs
1 Prospective Open-label Uncontrolled Multi-center Post-marketing Study to Assess Inhibitory Antibody Formation in Subjects With Congenital C1-INH Deficiency and Acute Hereditary Angioedema (HAE) Attacks Treated With Berinert® , a C1-esterase Inhibitor Completed NCT01467947 Phase 4
2 Open Label, Multicenter Study to Evaluate Efficacy, Safety and Tolerability of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary Angioedema (IHA) Completed NCT01457430 Phase 4 Icatibant
3 A Phase 4 Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE® (C1 Inhibitor [Human]) as Prophylactic Therapy in Subjects With Inadequately Controlled Hereditary Angioedema Attacks Completed NCT00914966 Phase 4
4 Hereditary Angioedema : Interest From the Use of a Call Center During the Attacks. Completed NCT01679912 Phase 4
5 Effect of Intravenous Administration of C1-inhibitor on Inflammation and Coagulation After Bronchial Instillation of House Dust Mite Allergen and Lipopolysaccharide in Allergic Asthma Patients Terminated NCT03051698 Phase 4 C1-inhibitor;Antibiotics
6 Randomized, Double-blind, Placebo-controlled, Dose-finding Study to Determine the Efficacy of 1000u, and 1500u of C1-INH Compared to Placebo at the Time of Prodromal Symptoms in Preventing an Acute HAE Exacerbation. Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
7 A Phase III Randomized, Double-Blind,Placebo-Controlled, Multicenter Study of Icatibant for Subcutaneous Injection in Patients With Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00912093 Phase 3 Icatibant;Placebo
8 LEVP2005-1/Part B: A Double-blind, Placebo-Controlled, Clinical Study to Investigate the Efficacy and Safety of Purified C1 Esterase Inhibitor (Human) as Prophylactic Treatment to Prevent HAE Attacks Completed NCT01005888 Phase 3 Placebo (saline)
9 A Phase 3, Open-label, Single-period Study to Evaluate the Safety and Treatment Effect of Intravenous Administration of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
10 HELP Study ExtensionTM: An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of DX-2930 for Prevention Against Acute Attacks of Hereditary Angioedema (HAE) Completed NCT02741596 Phase 3 DX-2930;DX-2930
11 A Double-blind, Randomized, Placebo-controlled, Cross-over Study to Evaluate the Clinical Efficacy and Safety of Subcutaneous Administration of Human Plasma-derived C1-esterase Inhibitor in the Prophylactic Treatment of Hereditary Angioedema Completed NCT01912456 Phase 3
12 Randomised Double Blind, Controlled, Parallel Group, Multicentre Study of a Subcutaneous Formulation of Icatibant Versus Oral Tranexamic Acid for the Treatment of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
13 HELP Study: A Multicenter, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study to Evaluate DX-2930 For Long-Term Prophylaxis Against Acute Attacks of Hereditary Angioedema (HAE) Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
14 A Phase 3, Randomized, Double-blind, Placebo-controlled, Two-period, Three-sequence, Partial Crossover Study to Evaluate the Efficacy and Safety of Subcutaneous Administration of 2000 IU of C1 Esterase Inhibitor [Human] Liquid for Injection for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
15 A Phase III Randomized, Double-blind, Placebo-controlled Study With an Open-label Extension Evaluating the Efficacy, Safety and Immunogenicity of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks of Angioedema in Patients With HAE Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
16 Open Label, Multicenter Study to Evaluate Safety, Local Tolerability, Convenience, and Efficacy of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00997204 Phase 3 Icatibant
17 Pharmacokinetics Berinert P Study of Subcutaneous Versus Intravenous Administration in Subjects With Moderate Hereditary Angioedema - The Passion Study Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
18 A Multicenter, Open-Label, Non-Randomized Study to Assess the Pharmacokinetics, Tolerability, and Safety of a Single Subcutaneous Administration of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
19 An Open-label, Randomized Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneous Administration of Human Plasma-derived C1-esterase Inhibitor in the Prophylactic Treatment of Hereditary Angioedema Completed NCT02316353 Phase 3
20 OPuS-2: A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX4161 for 12 Weeks as an Oral Prophylaxis Treatment for Attacks of Hereditary Angioedema Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
21 LEVP2006-4 CHANGE 3 Trial (C1-Inhibitor in Hereditary Angioedema Nanofiltration Generation Evaluating Efficacy): Open-Label Use of C1INH-nf (Human) for the Prophylactic Treatment to Prevent HAE Attacks and as Treatment in Acute HAE Attacks Completed NCT00462709 Phase 3
22 Open-label Patient Continuation of DX-88 (Ecallantide) for Acute Hereditary Angioedema Attacks Completed NCT00456508 Phase 3 ecallantide
23 A Randomized, Placebo-controlled, Double-blind Phase III Study of the Efficacy and Safety of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
24 A Phase II/III Study of the Efficacy and Safety of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
25 A Double-blind, Placebo-controlled Study (72 Patients, Randomized 1:1) Followed by a Repeat-dosing Phase to Assess the Efficacy and Safety of DX-88 (Ecallantide; Recombinant Plasma Kallikrein Inhibitor) for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
26 EDEMA4: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Assess the Efficacy and Safety of DX-88 (Ecallantide) for the Treatment of Acute Attacks of Hereditary Angioedema Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
27 A Randomized, Placebo-controlled, Double Blind Phase II/III Study of the Safety and Efficacy of Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
28 Open-label Extension Study of CE1145 (Human Pasteurized C1 Esterase Inhibitor Concentrate) in Subjects With Congenital C1-INH Deficiency and Acute HAE Attacks Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
29 An Open-Label Study of Icatibant in Japanese Subjects With Acute Attacks of Hereditary Angioedema. Completed NCT03888755 Phase 3 Icatibant
30 A Phase 3, Multicenter, Randomized, Single-Blind, Dose-Ranging, Crossover Study to Evaluate the Safety and Efficacy of Intravenous Administration of CINRYZE® (C1 Esterase Inhibitor [Human]) for the Prevention of Angioedema Attacks in Children 6 to 11 Years of Age With Hereditary Angioedema Completed NCT02052141 Phase 3
31 LEVP2006-1 CHANGE 2 Trial (C1-Inhibitor in Hereditary Angioedema Nanofiltration Generation Evaluating Efficacy): Open-Label Safety/Efficacy Repeat Exposure Study of C1INH-nf (Human) in the Treatment of Acute HAE Attacks Completed NCT00438815 Phase 3
32 LEVP2005-1/Part A: A Double-blind, Placebo-Controlled, Clinical Study to Investigate the Efficacy and Safety of Purified C1 Esterase Inhibitor (Human) for the Treatment of HAE in Acute Attacks Completed NCT00289211 Phase 3 Placebo (saline)
33 Human Pasteurized C1 Esterase Inhibitor Concentrate (CE1145) in Subjects With Congenital C1-INH Deficiency and Acute Abdominal or Facial HAE Attacks Completed NCT00168103 Phase 2, Phase 3
34 Randomized, Double Blind, Placebo-Controlled, Multicenter Study of a Subcutaneous Formulation of Icatibant for the Treatment of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
35 A Phase 3 Multi-center, Open-label Study to Evaluate the Efficacy and Safety of Lanadelumab (SHP643) in Japanese Subjects With Hereditary Angioedema Recruiting NCT04180163 Phase 3 Lanadelumab
36 A Phase 3, Multicenter, Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of Lanadelumab for Prevention Against Acute Attacks of Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) Recruiting NCT04206605 Phase 3 Lanadelumab
37 An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Lanadelumab for Prevention Against Acute Attacks of Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) Recruiting NCT04444895 Phase 3 Lanadelumab
38 A Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel-arm Study to Investigate the Efficacy and Safety of Subcutaneous Administration of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Recruiting NCT04656418 Phase 3 Placebo
39 An Open-label Study to Evaluate the Long-term Safety and Efficacy of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Recruiting NCT04739059 Phase 3
40 A Multicenter, Open-Label, Non-randomized Phase 3 Study to Assess the Safety, Efficacy and Pharmacokinetics of Subcutaneous Administration of Icatibant (TAK-667) in Japanese Children and Adolescents With Acute Attacks of Hereditary Angioedema Recruiting NCT04654351 Phase 3 TAK-667
41 Open-arm, Japan Expanded Access Program With Lanadelumab (TAK-743) for Japanese Patients With Hereditary Angioedema Recruiting NCT04687137 Phase 3 TAK-743 300 mg
42 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX7353 as an Oral Treatment for the Prevention of Attacks in Subjects With Hereditary Angioedema Active, not recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
43 An Open-label Study to Evaluate the Long-term Safety of Daily Oral BCX7353 in Subjects With Type I and II Hereditary Angioedema Active, not recruiting NCT03472040 Phase 2, Phase 3 BCX7353
44 SPRING STUDY: An Open-Label, Multicenter, Phase 3 Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Lanadelumab for Prevention Against Acute Attacks of Hereditary Angioedema (HAE) in Pediatric Subjects 2 to <12 Years of Age Active, not recruiting NCT04070326 Phase 3 Lanadelumab
45 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Two Dose Levels of BCX7353 as an Oral Treatment for the Prevention of Attacks in Subjects With Hereditary Angioedema Active, not recruiting NCT03873116 Phase 3 BCX7353 capsules;BCX7353 capsules;Placebo oral capsule
46 OPuS-4: An Open-label Study to Evaluate the Long-term Safety of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
47 A 3-Part Study to Evaluate the Pharmacokinetics, Safety, and Efficacy of Subcutaneous Ecallantide in Prepubertal Paediatric Patients Experiencing Acute Attacks of Hereditary Angioedema (HAE) Withdrawn NCT01253382 Phase 2, Phase 3
48 A Multicenter, Open-Label Study to Assess the Tolerability and Safety of a Single, Subcutaneous Administration of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
49 An Open-label Exploratory Phase II Study of the Safety and Immunogenicity of Repeated "rhC1INH" Administration of 50 U/Kg in Patients With Hereditary C1 Inhibitor Deficiency ("HAE") Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
50 A Randomized, Double-blind, Placebo-controlled, Phase II, Cross-over Clinical Trial Evaluating the Efficacy and Safety of KVD900, an Oral Plasma Kallikrein Inhibitor, in the On-demand Treatment of Angioedema Attacks in Adult Subjects With Hereditary Angioedema Type I or II Completed NCT04208412 Phase 2 KVD900;Placebo

Search NIH Clinical Center for Complement Component 4, Partial Deficiency of

Inferred drug relations via UMLS 70 / NDF-RT 51 :


C1 esterase inhibitor (human)

Genetic Tests for Complement Component 4, Partial Deficiency of

Genetic tests related to Complement Component 4, Partial Deficiency of:

# Genetic test Affiliating Genes
1 Complement Component 4, Partial Deficiency of 29 SERPING1

Anatomical Context for Complement Component 4, Partial Deficiency of

MalaCards organs/tissues related to Complement Component 4, Partial Deficiency of:

40
Endothelial, Small Intestine, Neutrophil, Whole Blood, Spleen, Colon, Liver

Publications for Complement Component 4, Partial Deficiency of

Articles related to Complement Component 4, Partial Deficiency of:

(show top 50) (show all 489)
# Title Authors PMID Year
1
Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. 57
7883978 1995
2
Unique C1 inhibitor dysfunction in a kindred without angioedema. I. A mutant C1 INH that inhibits C1-s but not C1-r. 57
8144914 1994
3
Metabolism of C4 and linkage analysis in a kindred with hereditary incomplete C4 deficiency. 57
3477232 1987
4
Inherited incomplete deficiency of the fourth component of complement (C4) determined by a gene not linked to human histocompatibility leukocyte antigens. 57
6480834 1984
5
A follow-up survey of patients with acquired angioedema due to C1-inhibitor deficiency. 61
33215769 2021
6
How Angioedema Quality of Life Questionnaire Can Help Physicians in Treating C1-Inhibitor Deficiency Patients? 61
33660212 2021
7
The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency. 61
33791951 2021
8
Impact of anxiety, stress and depression related to COVID-19 pandemic on the course of hereditary angioedema with C1 inhibitor deficiency. 61
33650198 2021
9
Analysis of Heart-Rate Variability during Angioedema Attacks in Patients with Hereditary C1-Inhibitor Deficiency. 61
33809031 2021
10
Correction to: A case of hereditary angioedema due to C1-inhibitor deficiency with recurrent abdominal pain diagnosed 40 years after the occurrence of the initial symptom. 61
33755875 2021
11
Angioedema without wheals: a clinical update. 61
33593719 2021
12
COVID-19 as a trigger of acute attacks in people with hereditary angioedema. 61
33772888 2021
13
COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience. 61
33338534 2021
14
Decreasing Attacks and Improving Quality of Life through a Systematic Management Program for Patients with Hereditary Angioedema. 61
33657571 2021
15
Therapeutic management of hereditary angioedema: past, present, and future. 61
33724190 2021
16
Pathophysiology and underlying mechanisms in hereditary angioedema. 61
33233873 2021
17
The Importance of Complement Testing in Acquired Angioedema Related to Angiotensin-Converting Enzyme Inhibitors. 61
32916322 2021
18
Efficacy of lanadelumab in acquired angioedema with C1-inhibitor deficiency. 61
33556593 2021
19
A case of hereditary angioedema due to C1-inhibitor deficiency with recurrent abdominal pain diagnosed 40 years after the occurrence of the initial symptom. 61
33544288 2021
20
Pathways of Neutrophil Granulocyte Activation in Hereditary Angioedema with C1 Inhibitor Deficiency. 61
33606193 2021
21
Cut-off value of C1-inhibitor function for the diagnosis of hereditary angioedema due to C1-inhibitor deficiency. 61
33614375 2021
22
COVID-19 affecting hereditary angioedema patients with and without C1 inhibitor deficiency. 61
33271349 2021
23
Hereditary Angioedema with and Without C1-Inhibitor Deficiency in Postmenopausal Women. 61
33130967 2021
24
Acquired Angioedema with C1 Inhibitor Deficiency: Occurrence, Clinical Features, and Management: A Nationwide Retrospective Study in the Czech Republic Patients. 61
33472202 2021
25
US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. 61
32898710 2021
26
Psychological processes in the experience of hereditary angioedema in adult patients: an observational study. 61
33422102 2021
27
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency. 61
33469833 2021
28
[Acquired angioedema due to C1-inhibitor deficiency: CREAK recommendations for diagnosis and treatment]. 61
32753245 2020
29
Epigenetic alterations on C1-inhibitor expression may influence hereditary angioedema attack frequency and C4 levels: Comment on: Karagianni P, Goules AV, Tzioufas AG. Epigenetic alterations in Sjogren's syndrome patient saliva. 61
32940350 2020
30
Pharmacokinetics, Pharmacodynamics, and Exposure-Response of Lanadelumab for Hereditary Angioedema. 61
32407574 2020
31
Hereditary angioedema in children and adolescents - A consensus update on therapeutic strategies for German-speaking countries. 61
32524650 2020
32
Oral once-daily berotralstat for the prevention of hereditary angioedema attacks: A randomized, double-blind, placebo-controlled phase 3 trial. 61
33098856 2020
33
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. 61
33114181 2020
34
Hereditary C1 inhibitor deficiency associated with systemic lupus erythematosus. 61
32659156 2020
35
Hereditary Angioedema Due to C1-Inhibitor Deficiency in Romania: First National Study, Diagnostic and Treatment Challenges. 61
32996899 2020
36
C1-inhibitor Deficiency Induces Myositis-like Symptoms Via the Deposition of the Membrane Attack Complex in the Muscle. 61
32461528 2020
37
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency. 61
31959500 2020
38
Successful Use of Recombinant Human C1-INH in a Patient with Acquired Angioedema due to C1 Inhibitor Deficiency and an Unusually High Titer of Anti-C1-Inhibitor Autoantibodies. 61
32732186 2020
39
Clinical Characteristics and Safety of Plasma-Derived C1-Inhibitor Therapy in Children and Adolescents with Hereditary Angioedema-A Long-Term Survey. 61
32198128 2020
40
Impaired control of the contact system in hereditary angioedema with normal C1-inhibitor. 61
31860755 2020
41
Patient-reported burden of hereditary angioedema: findings from a patient survey in the United States. 61
32169514 2020
42
Ultrasound findings in an abdominal crisis of a patient with hereditary angioedema. 61
32338026 2020
43
Biological therapy in hereditary angioedema: transformation of a rare disease. 61
31994957 2020
44
Life expectancy in Italian patients with hereditary angioedema due to C1-inhibitor deficiency. 61
31954853 2020
45
Changes of coagulation parameters during erythema marginatum in patients with hereditary angioedema. 61
32078942 2020
46
Contact activation-induced complex formation between complement factor H and coagulation factor XIIa. 61
31984663 2020
47
Nailfold Videocapillaroscopic Findings in Bradykinin-Mediated Angioedema. 61
32301440 2020
48
sgp120 and the contact system in hereditary angioedema: A diagnostic tool in HAE with normal C1 inhibitor. 61
31955064 2020
49
Hereditary angioedema: a prospective study of a Brazilian single-center cohort. 61
31631315 2020
50
Life-threatening laryngeal attacks in hereditary angioedema patients. 61
32308206 2020

Variations for Complement Component 4, Partial Deficiency of

ClinVar genetic disease variations for Complement Component 4, Partial Deficiency of:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPING1 NM_000062.2(SERPING1):c.5C>T (p.Ala2Val) SNV Uncertain significance 305016 rs185342631 GRCh37: 11:57365748-57365748
GRCh38: 11:57598275-57598275

Expression for Complement Component 4, Partial Deficiency of

Search GEO for disease gene expression data for Complement Component 4, Partial Deficiency of.

Pathways for Complement Component 4, Partial Deficiency of

GO Terms for Complement Component 4, Partial Deficiency of

Sources for Complement Component 4, Partial Deficiency of

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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