SLEB1
MCID: SYS043
MIFTS: 45

Systemic Lupus Erythematosus 1 (SLEB1)

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

Aliases & Classifications for Systemic Lupus Erythematosus 1

MalaCards integrated aliases for Systemic Lupus Erythematosus 1:

Name: Systemic Lupus Erythematosus 1 57 75 29
Systemic Lupus Erythematosus, Resistance to 57 13
Sleb1 57 75
Systemic Lupus Erythematosus, Susceptibility to, 1 57
Lupus Erythematosus, Systemic, Type 1 40
Lupus Erythematosus, Systemic 73
Systemic Lupus Erythematosus 57

Classifications:



External Ids:

OMIM 57 601744
MeSH 44 D008180
UMLS 73 C0024141

Summaries for Systemic Lupus Erythematosus 1

UniProtKB/Swiss-Prot : 75 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 systemic lupus erythematosus 16 and systemic lupus erythematosus 2, 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 are Toll-like Receptor Signaling Pathway and TRAF Pathway. Affiliated tissues include skin, bone and kidney, and related phenotype is adipose tissue.

Description from OMIM: 601744

Related Diseases for Systemic Lupus Erythematosus 1

Diseases in the Lupus Erythematosus family:

Systemic Lupus Erythematosus Systemic Lupus Erythematosus 15
Systemic Lupus Erythematosus 1 Systemic Lupus Erythematosus 2
Systemic Lupus Erythematosus 3 Systemic Lupus Erythematosus 4
Systemic Lupus Erythematosus 5 Systemic Lupus Erythematosus 6
Systemic Lupus Erythematosus 7 Systemic Lupus Erythematosus 8
Systemic Lupus Erythematosus 9 Systemic Lupus Erythematosus 10
Systemic Lupus Erythematosus 11 Systemic Lupus Erythematosus 12
Systemic Lupus Erythematosus 13 Systemic Lupus Erythematosus 14
Systemic Lupus Erythematosus 16

Diseases related to Systemic Lupus Erythematosus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1060)
# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 16 12.9
2 systemic lupus erythematosus 2 12.8
3 systemic lupus erythematosus 10 12.8
4 systemic lupus erythematosus 6 12.7
5 systemic lupus erythematosus 9 12.7
6 systemic lupus erythematosus 11 12.6
7 pediatric systemic lupus erythematosus 12.6
8 systemic lupus erythematosus 3 12.5
9 systemic lupus erythematosus 4 12.5
10 systemic lupus erythematosus 5 12.5
11 systemic lupus erythematosus 7 12.5
12 systemic lupus erythematosus 12 12.5
13 neonatal systemic lupus erythematosus 12.5
14 systemic lupus erythematosus with hemolytic anemia 1 12.5
15 systemic lupus erythematosus 15 12.4
16 systemic lupus erythematosus with nephritis 1 12.4
17 systemic lupus erythematosus with nephritis 2 12.4
18 systemic lupus erythematosus with nephritis 3 12.4
19 systemic lupus erythematosus 8 12.4
20 systemic lupus erythematosus 13 12.4
21 systemic lupus erythematosus 14 12.4
22 neonatal lupus erythematosus 12.2
23 vitiligo-associated multiple autoimmune disease susceptibility 1 12.0
24 c1q deficiency 11.8
25 mixed connective tissue disease 11.8
26 sjogren syndrome 11.6
27 drug-induced lupus erythematosus 11.6
28 macrophage activation syndrome 11.6
29 pure red-cell aplasia 11.6
30 cutaneous lupus erythematosus 11.6
31 hypogonadotropic hypogonadism 11.6
32 complement component 2 deficiency 11.6
33 epidermolysis bullosa acquisita 11.6
34 renal tubular acidosis, distal 11.6
35 undifferentiated connective tissue disease 11.5
36 complement component c1s deficiency 11.5
37 rapidly progressive glomerulonephritis 11.5
38 sneddon syndrome 11.5
39 glomerulopathy with fibronectin deposits 2 11.5
40 complement component 3 deficiency, autosomal recessive 11.5
41 lupus erythematosus tumidus 11.5
42 spondyloenchondrodysplasia 11.5
43 pseudo-torch syndrome 1 11.2
44 chilblain lupus 1 11.2
45 autoimmune disease 6 11.2
46 chilblain lupus 2 11.2
47 aicardi-goutieres syndrome 11.2
48 autoimmune inner ear disease 11.2
49 c1q nephropathy 11.2
50 insulin-resistance type b 11.2

Graphical network of the top 20 diseases related to Systemic Lupus Erythematosus 1:



Diseases related to 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 MAPK8 TLR5

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 29 TLR5

Anatomical Context for Systemic Lupus Erythematosus 1

MalaCards organs/tissues related to Systemic Lupus Erythematosus 1:

41
Skin, Bone, Kidney, Bone Marrow, B Cells, Heart, Testes

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

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
Show member pathways
12.31 MAPK8 TLR5
2
Show member pathways
11.94 MAPK8 TLR5
3
Show member pathways
11.91 MAPK8 TLR5
4
Show member pathways
11.69 MAPK8 TLR5
5
Show member pathways
11.59 MAPK8 TLR5
6
Show member pathways
11.54 MAPK8 TLR5
7
Show member pathways
11.4 MAPK8 TLR5
8
Show member pathways
11.05 MAPK8 TLR5
9 10.56 MAPK8 TLR5

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 lipopolysaccharide GO:0071222 8.96 MAPK8 TLR5
2 cellular response to mechanical stimulus GO:0071260 8.62 MAPK8 TLR5

Sources for Systemic Lupus Erythematosus 1

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....