C1SD
MCID: CMP091
MIFTS: 20

Complement Component C1s Deficiency (C1SD)

Categories: Genetic diseases

Aliases & Classifications for Complement Component C1s Deficiency

MalaCards integrated aliases for Complement Component C1s Deficiency:

Name: Complement Component C1s Deficiency 57 75 29 6 40 73
C1s Deficiency 57 75 13
C1sd 57 75

Classifications:



External Ids:

OMIM 57 613783
MeSH 44 D007105
UMLS 73 C3151078

Summaries for Complement Component C1s Deficiency

UniProtKB/Swiss-Prot : 75 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 : Complement Component C1s Deficiency, also known as c1s deficiency, is related to autoimmune disease and systemic lupus erythematosus. An important gene associated with Complement Component C1s Deficiency is C1S (Complement C1s). Affiliated tissues include thyroid and t cells, and related phenotypes are hepatitis and hashimoto thyroiditis

Description from OMIM: 613783

Related Diseases for Complement Component C1s Deficiency

Diseases related to Complement Component C1s Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autoimmune disease 9.8
2 systemic lupus erythematosus 9.8
3 autoimmune disease 1 9.8
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
5 lupus erythematosus 9.8

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



Diseases related to Complement Component C1s Deficiency

Symptoms & Phenotypes for Complement Component C1s Deficiency

Clinical features from OMIM:

613783

Human phenotypes related to Complement Component C1s Deficiency:

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

Drugs & Therapeutics for Complement Component C1s Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component C1s Deficiency

Genetic Tests for Complement Component C1s Deficiency

Genetic tests related to Complement Component C1s Deficiency:

# Genetic test Affiliating Genes
1 Complement Component C1s Deficiency 29 C1S

Anatomical Context for Complement Component C1s Deficiency

MalaCards organs/tissues related to Complement Component C1s Deficiency:

41
Thyroid, T Cells

Publications for Complement Component C1s Deficiency

Articles related to Complement Component C1s Deficiency:

# Title Authors Year
1
C1r/C1s deficiency is insufficient to induce murine systemic lupus erythematosus. ( 29550838 )
2018
2
Lupus nephritis associated with complete C1s deficiency efficiently treated with rituximab: a case report. ( 20191570 )
2010
3
Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family. ( 19155518 )
2009
4
Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene. ( 18062908 )
2008
5
Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. ( 11390518 )
2001
6
Molecular basis of human complement C1s deficiency. ( 9973493 )
1999
7
Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene. ( 9856483 )
1998

Variations for Complement Component C1s Deficiency

ClinVar genetic disease variations for Complement Component C1s Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C1S C1S, 4-BP DEL, NT1087 deletion Pathogenic
2 C1S NM_001734.3(C1S): c.1600C> T (p.Arg534Trp) single nucleotide variant Pathogenic rs121909582 GRCh37 Chromosome 12, 7177488: 7177488
3 C1S NM_001734.3(C1S): c.1600C> T (p.Arg534Trp) single nucleotide variant Pathogenic rs121909582 GRCh38 Chromosome 12, 7070184: 7070184

Expression for Complement Component C1s Deficiency

Search GEO for disease gene expression data for Complement Component C1s Deficiency.

Pathways for Complement Component C1s Deficiency

GO Terms for Complement Component C1s Deficiency

Sources for Complement Component C1s Deficiency

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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