MCID: SYS040
MIFTS: 15

Systemic Lupus Erythematosus 10

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Immune diseases, Bone diseases, Skin diseases

Aliases & Classifications for Systemic Lupus Erythematosus 10

MalaCards integrated aliases for Systemic Lupus Erythematosus 10:

Name: Systemic Lupus Erythematosus 10 57 75 29 6
Systemic Lupus Erythematosus, Susceptibility to, 10 57 13
Sleb10 57 75
Lupus Erythematosus, Systemic, Type 10 40

Classifications:



External Ids:

OMIM 57 612251
MedGen 42 C2677097
MeSH 44 D008180

Summaries for Systemic Lupus Erythematosus 10

UniProtKB/Swiss-Prot : 75 Systemic lupus erythematosus 10: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.

MalaCards based summary : Systemic Lupus Erythematosus 10, is also known as systemic lupus erythematosus, susceptibility to, 10. An important gene associated with Systemic Lupus Erythematosus 10 is IRF5 (Interferon Regulatory Factor 5). Affiliated tissues include skin, kidney and bone.

Description from OMIM: 612251

Related Diseases for Systemic Lupus Erythematosus 10

Symptoms & Phenotypes for Systemic Lupus Erythematosus 10

Clinical features from OMIM:

612251

Drugs & Therapeutics for Systemic Lupus Erythematosus 10

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 10

Genetic Tests for Systemic Lupus Erythematosus 10

Genetic tests related to Systemic Lupus Erythematosus 10:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 10 29 IRF5

Anatomical Context for Systemic Lupus Erythematosus 10

MalaCards organs/tissues related to Systemic Lupus Erythematosus 10:

41
Skin, Kidney, Bone, Bone Marrow

Publications for Systemic Lupus Erythematosus 10

Variations for Systemic Lupus Erythematosus 10

ClinVar genetic disease variations for Systemic Lupus Erythematosus 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF5 IRF5, 5-BP INS, PROMOTER REGION insertion risk factor
2 IRF5 NM_001098629.2(IRF5): c.*555G> A single nucleotide variant risk factor rs10954213 GRCh37 Chromosome 7, 128589427: 128589427
3 IRF5 NM_001098629.2(IRF5): c.*555G> A single nucleotide variant risk factor rs10954213 GRCh38 Chromosome 7, 128949373: 128949373

Expression for Systemic Lupus Erythematosus 10

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 10.

Pathways for Systemic Lupus Erythematosus 10

GO Terms for Systemic Lupus Erythematosus 10

Sources for Systemic Lupus Erythematosus 10

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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