C1SD
MCID: CMP091
MIFTS: 23

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 74 29 6 40 72
C1s Deficiency 57 74 13
C1sd 57 74

Classifications:



External Ids:

OMIM 57 613783
MeSH 44 D007105
UMLS 72 C3151078

Summaries for Complement Component C1s Deficiency

UniProtKB/Swiss-Prot : 74 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 related phenotypes are hepatitis and hashimoto thyroiditis

More information 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease 10.0
2 systemic lupus erythematosus 9.9
3 lupus erythematosus 9.9
4 fibrosis of extraocular muscles, congenital, 1 9.8
5 pulmonary fibrosis, idiopathic 9.8
6 chondrosarcoma 9.8
7 autosomal recessive disease 9.8
8 autoimmune hepatitis 9.8
9 idiopathic interstitial pneumonia 9.8
10 interstitial lung disease 9.8
11 pulmonary fibrosis 9.8
12 systemic scleroderma 9.8
13 thyroiditis 9.8
14 virus associated hemophagocytic syndrome 9.8
15 hemophagocytic syndrome associated with an infection 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:

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

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 29 C1S

Anatomical Context for Complement Component C1s Deficiency

MalaCards organs/tissues related to Complement Component C1s Deficiency:

41
Thyroid

Publications for Complement Component C1s Deficiency

Articles related to Complement Component C1s Deficiency:

(show all 11)
# Title Authors PMID Year
1
Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. 38 8 71
11390518 2001
2
Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene. 38 8 71
9856483 1998
3
C1r/C1s deficiency is insufficient to induce murine systemic lupus erythematosus. 38
29550838 2019
4
Proteolytic inactivation of nuclear alarmin high-mobility group box 1 by complement protease C1s during apoptosis. 38
27648302 2016
5
Lupus nephritis associated with complete C1s deficiency efficiently treated with rituximab: a case report. 38
20191570 2010
6
Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family. 38
19155518 2009
7
Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene. 38
18062908 2008
8
[C1r/C1s deficiency]. 38
11212686 2000
9
Molecular basis of human complement C1s deficiency. 38
9973493 1999
10
Non-coordinated biosynthesis of early complement components in a deficiency of complement proteins C1r and C1s. 38
7939409 1994
11
Deficiency of the first component of human complement. 38
2561058 1989

Variations for Complement Component C1s Deficiency

ClinVar genetic disease variations for Complement Component C1s Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C1S C1S, 4-BP DEL, NT1087 deletion Pathogenic
2 C1S NM_001734.5(C1S): c.1600C> T (p.Arg534Trp) single nucleotide variant Pathogenic rs121909582 12:7177488-7177488 12:7070184-7070184
3 KMT2D NM_003482.3(KMT2D): c.8626del (p.Gln2876fs) deletion Pathogenic 12:49432513-49432513 12:49038730-49038730
4 C1S NM_001734.5(C1S): c.514G> A (p.Gly172Arg) single nucleotide variant Uncertain significance 12:7171693-7171693 12:7064389-7064389
5 C1S NM_001734.5(C1S): c.943G> A (p.Asp315Asn) single nucleotide variant Uncertain significance 12:7173893-7173893 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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