MCID: CMP086
MIFTS: 13

Complement Component C1r/c1s Deficiency

Aliases & Classifications for Complement Component C1r/c1s Deficiency

MalaCards integrated aliases for Complement Component C1r/c1s Deficiency:

Name: Complement Component C1r/c1s Deficiency 58 30 41 74
C1r/c1s Deficiency 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
complement component c1r/c1s deficiency:
Inheritance autosomal recessive inheritance


Summaries for Complement Component C1r/c1s Deficiency

MalaCards based summary : Complement Component C1r/c1s Deficiency, also known as c1r/c1s deficiency, is related to systemic lupus erythematosus and complement component c1s deficiency. Related phenotypes are arthritis and arthralgia

Description from OMIM: 216950

Related Diseases for Complement Component C1r/c1s Deficiency

Diseases related to Complement Component C1r/c1s Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 10.1
2 complement component c1s deficiency 10.1
3 lupus erythematosus 10.1

Symptoms & Phenotypes for Complement Component C1r/c1s Deficiency

Human phenotypes related to Complement Component C1r/c1s Deficiency:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 arthralgia 33 HP:0002829
3 autoimmunity 33 HP:0002960
4 complement deficiency 33 HP:0004431
5 nephritis 33 HP:0000123
6 recurrent bronchitis 33 HP:0002837
7 discoid lupus rash 33 HP:0007417

Symptoms via clinical synopsis from OMIM:

58
Joints:
arthralgia
nondeforming rheumatoid-like arthritis

Lab:
c1r deficiency

Skin:
discoid lupus erythematosus

Immune:
autoimmune disease

Pulmonary:
recurrent rhinobronchitis

G U:
mild nephritis

Clinical features from OMIM:

216950

Drugs & Therapeutics for Complement Component C1r/c1s Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Component C1r/c1s Deficiency

Genetic Tests for Complement Component C1r/c1s Deficiency

Genetic tests related to Complement Component C1r/c1s Deficiency:

# Genetic test Affiliating Genes
1 Complement Component C1r/c1s Deficiency 30

Anatomical Context for Complement Component C1r/c1s Deficiency

Publications for Complement Component C1r/c1s Deficiency

Articles related to Complement Component C1r/c1s Deficiency:

# Title Authors Year
1
C1r/C1s deficiency is insufficient to induce murine systemic lupus erythematosus. ( 29550838 )
2019

Variations for Complement Component C1r/c1s Deficiency

Expression for Complement Component C1r/c1s Deficiency

Search GEO for disease gene expression data for Complement Component C1r/c1s Deficiency.

Pathways for Complement Component C1r/c1s Deficiency

GO Terms for Complement Component C1r/c1s Deficiency

Sources for Complement Component C1r/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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