MCID: CMP040
MIFTS: 32

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 40
C1 Inhibitor Deficiency 59
Angioedemas, Hereditary 73

Characteristics:

Orphanet epidemiological data:

59
c1 inhibitor deficiency
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
complement component 4, partial deficiency of:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 120790
Orphanet 59 ORPHA459353
ICD10 via Orphanet 34 D84.1
MedGen 42 C1852700
SNOMED-CT via HPO 69 263681008 55464009
UMLS 73 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). Affiliated tissues include testes, b cells and colon, and related phenotype is systemic lupus erythematosus.

Description 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 all 22)
# Related Disease Score Top Affiliating Genes
1 c1 inhibitor deficiency 12.6
2 hereditary angioedema 11.7
3 acquired angioedema 11.7
4 angioedema induced by ace inhibitors 11.3
5 angioedema 10.7
6 lupus erythematosus 10.3
7 systemic lupus erythematosus 10.2
8 lymphoma 10.1
9 melkersson-rosenthal syndrome 9.9
10 rheumatoid arthritis 9.9
11 sjogren syndrome 9.9
12 autoimmune lymphoproliferative syndrome, type v 9.9
13 arthritis 9.9
14 b-cell lymphomas 9.9
15 crohn's disease 9.9
16 marginal zone b-cell lymphoma 9.9
17 dermatomyositis 9.9
18 capillary leak syndrome 9.9
19 antiphospholipid syndrome 9.9
20 lymphosarcoma 9.9
21 neuropathy 9.9
22 systemic capillary leak syndrome 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

Symptoms via clinical synopsis from OMIM:

57
Immunology:
systemic lupus erythematosus
partial c4 deficiency


Clinical features from OMIM:

120790

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

32
# Description HPO Frequency HPO Source Accession
1 systemic lupus erythematosus 32 HP:0002725

Drugs & Therapeutics for Complement Component 4, Partial Deficiency of

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Testes, B Cells, Colon, Spleen, Thyroid, Whole Blood, Small Intestine

Publications for Complement Component 4, Partial Deficiency of

Articles related to Complement Component 4, Partial Deficiency of:

(show top 50) (show all 189)
# Title Authors Year
1
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype. ( 29513108 )
2018
2
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. ( 29753808 )
2018
3
Icatibant for the treatment of hereditary angioedema with C1-inhibitor deficiency in adolescents and in children aged over 2 years. ( 29757016 )
2018
4
Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight. ( 29343682 )
2018
5
Flow-mediated vasodilation assay indicates no endothelial dysfunction in hereditary angioedema patients with C1-inhibitor deficiency. ( 30312677 )
2018
6
Comparing Pathways of Bradykinin Formation in Whole Blood From Healthy Volunteers and Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 30333824 )
2018
7
Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen. ( 30386386 )
2018
8
The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories. ( 30479631 )
2018
9
Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies. ( 30539362 )
2018
10
Genotype-phenotype correlations in Brazilian patients with Hereditary Angioedema due to C1- inhibitor deficiency. ( 30556912 )
2018
11
Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study. ( 30005674 )
2018
12
Long-term prophylaxis therapy in patients with hereditary angioedema with C1 inhibitor deficiency. ( 30056152 )
2018
13
Secreted Phospholipases A2 in Hereditary Angioedema With C1-Inhibitor Deficiency. ( 30083168 )
2018
14
Splenic marginal zone lymphomas in acquired C1-inhibitor deficiency: clinical and molecular characterization. ( 30073422 )
2018
15
Long term effects upon rituximab treatment of acquired angio-edema due to c1-inhibitor deficiency. ( 30488963 )
2018
16
Clinical and biological response to rituximab treatment in 3 patients with acquired C1-inhibitor deficiency. ( 28866304 )
2017
17
Acquired C1 Inhibitor Deficiency. ( 28687105 )
2017
18
Diagnosis, Course, and Management of Angioedema in Patients With Acquired C1-Inhibitor Deficiency. ( 28284781 )
2017
19
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. ( 28069032 )
2017
20
Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients. ( 29214395 )
2017
21
Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset. ( 29130992 )
2017
22
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
23
Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity. ( 28222330 )
2017
24
Electroconvulsive Therapy in Patients with C1 Inhibitor Deficiency: A Major or Minor Procedure? ( 27326990 )
2016
25
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
26
Bacteriuria increases the risk of edematous attacks in hereditary angioedema with C1-inhibitor deficiency. ( 27548887 )
2016
27
Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1. ( 27187751 )
2016
28
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. ( 27503784 )
2016
29
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. ( 26796857 )
2016
30
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
31
Thyroid hormones and complement parameters in hereditary angioedema with C1-inhibitor deficiency. ( 27364943 )
2016
32
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. ( 27101900 )
2016
33
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
34
Cases of acquired C1 inhibitor deficiency treated with rituximab. ( 27130715 )
2016
35
High attack frequency in patients with angioedema due to C1-inhibitor deficiency is a major determinant in switching to home therapy: a real-life observational study. ( 27686124 )
2016
36
Delayed diagnosis of C1-inhibitor deficiency associated with significant morbidity and mortality. ( 27727922 )
2016
37
A nationwide study of acquired C1-inhibitor deficiency in France: Characteristics and treatment responses in 92 patients. ( 27537564 )
2016
38
Diagnostic and therapeutic management of hereditary angioedema due to C1-inhibitor deficiency: the Italian experience. ( 26106828 )
2015
39
Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency. ( 26452350 )
2015
40
Benefits of hydroxychloroquine in the treatment of a patient with angioedema due to acquired C1 inhibitor deficiency. ( 25457864 )
2015
41
The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. ( 26429506 )
2015
42
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26270546 )
2015
43
Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency. ( 26654922 )
2015
44
Recombinant human C1 esterase inhibitor for the treatment of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). ( 25669442 )
2015
45
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26154504 )
2015
46
Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 26304015 )
2015
47
The Janus faces of acquired angioedema: C1-inhibitor deficiency, lymphoproliferation and autoimmunity. ( 26068904 )
2015
48
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ( 25758562 )
2015
49
Current treatment options for hereditary angioedema due to C1 inhibitor deficiency. ( 26512744 )
2015
50
Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency. ( 26250409 )
2015

Variations for Complement Component 4, Partial Deficiency of

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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