C1SD
MCID: CMP091
MIFTS: 19

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 58 76 30 6 41 74
C1s Deficiency 58 76 13
C1sd 58 76

Classifications:



External Ids:

OMIM 58 613783
MeSH 45 D007105
UMLS 74 C3151078

Summaries for Complement Component C1s Deficiency

UniProtKB/Swiss-Prot : 76 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 systemic lupus erythematosus and autoimmune disease. 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 systemic lupus erythematosus 9.9
2 autoimmune disease 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

Human phenotypes related to Complement Component C1s Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 hepatitis 33 HP:0012115
2 hashimoto thyroiditis 33 HP:0000872
3 systemic lupus erythematosus 33 HP:0002725
4 abnormality of complement system 33 HP:0005339

Clinical features from OMIM:

613783

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 30 C1S

Anatomical Context for Complement Component C1s Deficiency

MalaCards organs/tissues related to Complement Component C1s Deficiency:

42
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 )
2019
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
4 KMT2D NM_003482.3(KMT2D): c.8626delC (p.Gln2876Serfs) deletion Pathogenic GRCh38 Chromosome 12, 49038730: 49038730
5 KMT2D NM_003482.3(KMT2D): c.8626delC (p.Gln2876Serfs) deletion Pathogenic GRCh37 Chromosome 12, 49432513: 49432513
6 C1S NM_001734.3(C1S): c.514G> A (p.Gly172Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7171693: 7171693
7 C1S NM_001734.3(C1S): c.514G> A (p.Gly172Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 7064389: 7064389
8 C1S NM_001734.3(C1S): c.943G> A (p.Asp315Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7173893: 7173893
9 C1S NM_001734.3(C1S): c.943G> A (p.Asp315Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 7066589: 7066589

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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