MCID: CMP086
MIFTS: 11

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 57 29 40 73
C1r/c1s Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
complement component c1r/c1s deficiency:
Inheritance autosomal recessive inheritance


Summaries for Complement Component C1r/c1s Deficiency

MalaCards based summary : Complement Component C1r/c1s Deficiency, is also known as c1r/c1s deficiency. An important gene associated with Complement Component C1r/c1s Deficiency is C1R (Complement C1r). Related phenotypes are nephritis and arthritis

Description from OMIM: 216950

Related Diseases for Complement Component C1r/c1s Deficiency

Symptoms & Phenotypes for Complement Component C1r/c1s Deficiency

Symptoms via clinical synopsis from OMIM:

57
Immune:
autoimmune disease

Joints:
arthralgia
nondeforming rheumatoid-like arthritis

Skin:
discoid lupus erythematosus

Lab:
c1r deficiency

Pulmonary:
recurrent rhinobronchitis

GU:
mild nephritis


Clinical features from OMIM:

216950

Human phenotypes related to Complement Component C1r/c1s Deficiency:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nephritis 32 HP:0000123
2 arthritis 32 HP:0001369
3 arthralgia 32 HP:0002829
4 recurrent bronchitis 32 HP:0002837
5 autoimmunity 32 HP:0002960
6 complement deficiency 32 HP:0004431
7 discoid lupus rash 32 HP:0007417

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 29 C1R

Anatomical Context for Complement Component C1r/c1s Deficiency

Publications for Complement Component C1r/c1s Deficiency

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 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
Content
Loading form....