Aliases & Classifications for C1s Deficiency

MalaCards integrated aliases for C1s Deficiency:

Name: C1s Deficiency 54 71 13
Complement Component C1s Deficiency 71 29 69
C1sd 71

Classifications:



External Ids:

OMIM 54 613783
MeSH 42 D007105
SNOMED-CT via HPO 65 21983002 55464009 128241005

Summaries for C1s Deficiency

UniProtKB/Swiss-Prot : 71 Complement component C1s deficiency: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.

MalaCards based summary : C1s Deficiency, also known as complement component c1s deficiency, is related to systemic lupus erythematosus and peroxisomal beta-oxidation disorder, and has symptoms including hashimoto thyroiditis, systemic lupus erythematosus and abnormality of complement system. An important gene associated with C1s Deficiency is C1S (Complement C1s), and among its related pathways/superpathways are Innate Immune System and Creation of C4 and C2 activators. The drugs Complement C1 Inactivator Proteins and Complement C1 Inhibitor Protein have been mentioned in the context of this disorder. Affiliated tissues include thyroid.

Description from OMIM: 613783

Related Diseases for C1s Deficiency

Graphical network of the top 20 diseases related to C1s Deficiency:



Diseases related to C1s Deficiency

Symptoms & Phenotypes for C1s Deficiency

Clinical features from OMIM:

613783

Human phenotypes related to C1s Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 hashimoto thyroiditis 32 HP:0000872
2 systemic lupus erythematosus 32 HP:0002725
3 abnormality of complement system 32 HP:0005339
4 hepatitis 32 HP:0012115

Drugs & Therapeutics for C1s Deficiency

Drugs for C1s Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement C1 Inactivator Proteins Phase 2, Phase 3
2 Complement C1 Inhibitor Protein Phase 2, Phase 3
3 Complement C1s Phase 2, Phase 3
4 Complement Inactivating Agents Phase 2, Phase 3
5 Complement System Proteins Phase 2, Phase 3
6 Immunosuppressive Agents Phase 2, Phase 3
7 Pharmaceutical Solutions Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
2 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor

Search NIH Clinical Center for C1s Deficiency

Genetic Tests for C1s Deficiency

Genetic tests related to C1s Deficiency:

id Genetic test Affiliating Genes
1 Complement Component C1s Deficiency 29

Anatomical Context for C1s Deficiency

MalaCards organs/tissues related to C1s Deficiency:

39
Thyroid

Publications for C1s Deficiency

Articles related to C1s Deficiency:

id Title Authors Year
1
Lupus nephritis associated with complete C1s deficiency efficiently treated with rituximab: a case report. ( 20191570 )
2010
2
Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family. ( 19155518 )
2009
3
Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene. ( 18062908 )
2008
4
Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. ( 11390518 )
2001
5
Molecular basis of human complement C1s deficiency. ( 9973493 )
1999
6
Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene. ( 9856483 )
1998

Variations for C1s Deficiency

Expression for C1s Deficiency

Search GEO for disease gene expression data for C1s Deficiency.

Pathways for C1s Deficiency

GO Terms for C1s Deficiency

Cellular components related to C1s Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.46 C1R C3 MASP2 MBL2
2 extracellular region GO:0005576 9.35 C1R C1S C3 MASP2 MBL2
3 blood microparticle GO:0072562 8.8 C1R C1S C3

Biological processes related to C1s Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.72 C1R C1S C3 MASP2 MBL2
2 immune system process GO:0002376 9.67 C1S C3 MASP2 MBL2
3 innate immune response GO:0045087 9.65 C1R C1S C3 MASP2 MBL2
4 regulation of complement activation GO:0030449 9.58 C1R C1S C3
5 positive regulation of phagocytosis GO:0050766 9.43 C3 MBL2
6 complement activation, classical pathway GO:0006958 9.35 C1R C1S C3 MASP2 MBL2
7 complement activation, lectin pathway GO:0001867 9.33 C1S MASP2 MBL2
8 complement activation GO:0006956 9.02 C1R C1S C3 MASP2 MBL2

Molecular functions related to C1s Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.5 C1R C1S MASP2
2 calcium ion binding GO:0005509 9.46 C1R C1S MASP2 MBL2
3 calcium-dependent protein binding GO:0048306 9.26 MASP2 MBL2
4 serine-type peptidase activity GO:0008236 9.13 C1R C1S MASP2
5 serine-type endopeptidase activity GO:0004252 9.02 C1R C1S C3 MASP2 MBL2

Sources for C1s Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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