MCID: CMP040
MIFTS: 28

Complement Component 4, Partial Deficiency of

Categories: Genetic diseases, Blood 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

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 b cells, testes and small intestine, 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 25)
# Related Disease Score Top Affiliating Genes
1 c1 inhibitor deficiency 12.4
2 hereditary angioedema 11.6
3 acquired angioedema 11.5
4 angioedema induced by ace inhibitors 11.2
5 angioedema 10.6
6 lupus erythematosus 10.1
7 systemic lupus erythematosus 10.1
8 lymphoma 10.0
9 autoimmune lymphoproliferative syndrome, type v 9.9
10 type i 9.9
11 melkersson-rosenthal syndrome 9.7
12 rheumatoid arthritis 9.7
13 sjogren syndrome 9.7
14 aging 9.7
15 arthritis 9.7
16 b-cell lymphomas 9.7
17 crohn's disease 9.7
18 marginal zone b-cell lymphoma 9.7
19 dermatomyositis 9.7
20 capillary leak syndrome 9.7
21 antiphospholipid syndrome 9.7
22 laryngitis 9.7
23 lymphosarcoma 9.7
24 neuropathy 9.7
25 systemic capillary leak syndrome 9.7

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:
partial c4 deficiency
systemic lupus erythematosus


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
B Cells, Testes, Small Intestine, Spleen

Publications for Complement Component 4, Partial Deficiency of

Articles related to Complement Component 4, Partial Deficiency of:

(show top 50) (show all 104)
# Title Authors Year
1
Acquired C1 Inhibitor Deficiency. ( 28687105 )
2017
2
Genetic Determinants of C1 Inhibitor Deficiency Angioedema Age of Onset. ( 29130992 )
2017
3
Treatment of hereditary angioedema due to C1 inhibitor deficiency in Argentina. ( 28825570 )
2017
4
Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity. ( 28222330 )
2017
5
Electroconvulsive Therapy in Patients with C1 Inhibitor Deficiency: A Major or Minor Procedure? ( 27326990 )
2016
6
Management of Pregnancy and Delivery in Patients With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27326983 )
2016
7
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
8
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. ( 27503784 )
2016
9
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre. ( 26796857 )
2016
10
Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency. ( 27940765 )
2016
11
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. ( 27101900 )
2016
12
Prophylaxis in hereditary angioedema (HAE) with C1 inhibitor deficiency. ( 26972189 )
2016
13
Cases of acquired C1 inhibitor deficiency treated with rituximab. ( 27130715 )
2016
14
Benefits of hydroxychloroquine in the treatment of a patient with angioedema due to acquired C1 inhibitor deficiency. ( 25457864 )
2015
15
The safety of treatments for angioedema with hereditary C1 inhibitor deficiency. ( 26429506 )
2015
16
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26270546 )
2015
17
Recombinant human C1 esterase inhibitor for the treatment of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE). ( 25669442 )
2015
18
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. ( 26154504 )
2015
19
Efficacy of on-demand treatment in reducing morbidity in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 26304015 )
2015
20
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ( 25758562 )
2015
21
Current treatment options for hereditary angioedema due to C1 inhibitor deficiency. ( 26512744 )
2015
22
Recombinant replacement therapy for hereditary angioedema due to C1 inhibitor deficiency. ( 26250409 )
2015
23
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association. ( 26535898 )
2015
24
C1 inhibitor deficiency: 2014 United Kingdom Consensus Document. ( 25605519 )
2015
25
Bradykinin-mediated hereditary angioedema (non-estrogen-dependent) without C1 inhibitor deficiency. ( 25219115 )
2014
26
Acquired angioedema with C1 inhibitor deficiency secondary to splenic marginal zone B-cell lymphoma. ( 24970460 )
2014
27
A case of transient acquired C1 inhibitor deficiency. ( 24950848 )
2014
28
Improving C1 inhibitor deficiency (type 1 and type 2 hereditary angioedema) in Latin America. ( 25668899 )
2014
29
Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report. ( 24467750 )
2014
30
Acquired C1 inhibitor deficiency: should we monitor for associated antibody deficiency? ( 24565597 )
2014
31
US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. ( 24565617 )
2013
32
Recurrent angio-oedema--three cases of C1 inhibitor deficiency. ( 24968556 )
2013
33
Small bowel angioedema due to acquired C1 inhibitor deficiency: a case report and overview. ( 23255023 )
2013
34
In pursuit of excellence: an integrated care pathway for C1 inhibitor deficiency. ( 23607500 )
2013
35
Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe. ( 23937903 )
2013
36
A focused parameter update: hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. ( 23726531 )
2013
37
Therapeutic management of hereditary angioedema due to C1 inhibitor deficiency. ( 23634741 )
2013
38
Management of dental-oral procedures in patients with hereditary angioedema due to C1 inhibitor deficiency. ( 23653967 )
2013
39
Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients. ( 24054366 )
2013
40
Development of a disease-specific quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency (HAE-QoL): Spanish multi-centre research project. ( 22817696 )
2012
41
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. ( 22197274 )
2012
42
Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. ( 22126399 )
2012
43
The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency. ( 22288585 )
2012
44
Angio-oedema due to hereditary C1 inhibitor deficiency in children. ( 22417938 )
2012
45
Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency. ( 21760740 )
2011
46
Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients. ( 21039598 )
2011
47
Acquired angioedema with C1 inhibitor deficiency associated with anticardiolipin antibodies. ( 22230421 )
2011
48
Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. ( 20804470 )
2011
49
Angioedema due to C1 inhibitor deficiency in 2010. ( 20496014 )
2010
50
Kinin formation in C1 inhibitor deficiency. ( 20381848 )
2010

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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