MCID: SYS043
MIFTS: 32

Systemic Lupus Erythematosus 1

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

Aliases & Classifications for Systemic Lupus Erythematosus 1

MalaCards integrated aliases for Systemic Lupus Erythematosus 1:

Name: Systemic Lupus Erythematosus 1 53 71 28
Systemic Lupus Erythematosus, Resistance to 53 13
Sleb1 53 71
Systemic Lupus Erythematosus, Susceptibility to, 1 53
Lupus Erythematosus, Systemic 69
Systemic Lupus Erythematosus 53

Classifications:



External Ids:

OMIM 53 601744
MeSH 41 D008180

Summaries for Systemic Lupus Erythematosus 1

UniProtKB/Swiss-Prot : 71 Systemic lupus erythematosus 1: 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 1, also known as systemic lupus erythematosus, resistance to, is related to lupus erythematosus and systemic lupus erythematosus, and has symptoms including seizures and pruritus. An important gene associated with Systemic Lupus Erythematosus 1 is TLR5 (Toll Like Receptor 5), and among its related pathways/superpathways is p53 Pathway (RnD). Affiliated tissues include bone, skin and kidney, and related phenotypes are cardiovascular system and digestive/alimentary

Description from OMIM: 601744

Related Diseases for Systemic Lupus Erythematosus 1

Symptoms & Phenotypes for Systemic Lupus Erythematosus 1

Clinical features from OMIM:

601744

UMLS symptoms related to Systemic Lupus Erythematosus 1:


seizures, pruritus

MGI Mouse Phenotypes related to Systemic Lupus Erythematosus 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.33 TLR5 TREX1 ENG
2 digestive/alimentary MP:0005381 9.13 ENG TLR5 TREX1
3 respiratory system MP:0005388 8.8 ENG TLR5 TREX1

Drugs & Therapeutics for Systemic Lupus Erythematosus 1

Genetic Tests for Systemic Lupus Erythematosus 1

Genetic tests related to Systemic Lupus Erythematosus 1:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 1 28 TLR5

Anatomical Context for Systemic Lupus Erythematosus 1

MalaCards organs/tissues related to Systemic Lupus Erythematosus 1:

38
Bone, Skin, Kidney, Bone Marrow

Publications for Systemic Lupus Erythematosus 1

Articles related to Systemic Lupus Erythematosus 1:

# Title Authors Year
1
Genetic analysis of systemic lupus erythematosus: 1. Detection of disease-associated variant proteins by two-dimensional gel electrophoresis. ( 3359604 )
1988
2
Aseptic bone necrosis in systemic lupus erythematosus. 1. Report of a case involving four joints. 2. The result of x-ray examination of 22 other cases of lupus erythematosus. ( 6006860 )
1966

Variations for Systemic Lupus Erythematosus 1

ClinVar genetic disease variations for Systemic Lupus Erythematosus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 NM_033629.4(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
2 ENG NM_000118.3(ENG): c.816+6T> C single nucleotide variant Pathogenic rs759191907 GRCh38 Chromosome 9, 127825225: 127825225

Expression for Systemic Lupus Erythematosus 1

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 1.

Pathways for Systemic Lupus Erythematosus 1

Pathways related to Systemic Lupus Erythematosus 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.74 TLR5 TREX1

GO Terms for Systemic Lupus Erythematosus 1

Biological processes related to Systemic Lupus Erythematosus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to mechanical stimulus GO:0071260 8.62 ENG TLR5

Molecular functions related to Systemic Lupus Erythematosus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 8.62 ENG TLR5

Sources for Systemic Lupus Erythematosus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....