SLEB6
MCID: SYS069
MIFTS: 21

Systemic Lupus Erythematosus 6 (SLEB6)

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

Aliases & Classifications for Systemic Lupus Erythematosus 6

MalaCards integrated aliases for Systemic Lupus Erythematosus 6:

Name: Systemic Lupus Erythematosus 6 57 72 29 6
Sleb6 57 72
Systemic Lupus Erythematosus, Susceptibility to, 6 57
Lupus Erythematosus, Systemic, Type 6 39

Characteristics:

HPO:

31
systemic lupus erythematosus 6:
Inheritance polygenic inheritance


Classifications:



Summaries for Systemic Lupus Erythematosus 6

UniProtKB/Swiss-Prot : 72 Systemic lupus erythematosus 6: 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 6, is also known as sleb6. An important gene associated with Systemic Lupus Erythematosus 6 is ITGAM (Integrin Subunit Alpha M). Affiliated tissues include bone marrow, and related phenotypes are arthritis and pericarditis

More information from OMIM: 609939

Related Diseases for Systemic Lupus Erythematosus 6

Symptoms & Phenotypes for Systemic Lupus Erythematosus 6

Human phenotypes related to Systemic Lupus Erythematosus 6:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 very rare (1%) HP:0001369
2 pericarditis 31 very rare (1%) HP:0001701
3 abnormality of the nervous system 31 very rare (1%) HP:0000707
4 cutaneous photosensitivity 31 very rare (1%) HP:0000992
5 pleuritis 31 very rare (1%) HP:0002102
6 spontaneous abortion 31 very rare (1%) HP:0005268
7 systemic lupus erythematosus 31 very rare (1%) HP:0002725
8 antinuclear antibody positivity 31 very rare (1%) HP:0003493
9 abnormal renal physiology 31 very rare (1%) HP:0012211
10 malar rash 31 very rare (1%) HP:0025300

Clinical features from OMIM®:

609939 (Updated 20-May-2021)

Drugs & Therapeutics for Systemic Lupus Erythematosus 6

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 6

Genetic Tests for Systemic Lupus Erythematosus 6

Genetic tests related to Systemic Lupus Erythematosus 6:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 6 29

Anatomical Context for Systemic Lupus Erythematosus 6

MalaCards organs/tissues related to Systemic Lupus Erythematosus 6:

40
Bone Marrow

Publications for Systemic Lupus Erythematosus 6

Articles related to Systemic Lupus Erythematosus 6:

(show all 26)
# Title Authors PMID Year
1
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 57
19838195 2009
2
ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai. 57
19286673 2009
3
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 57
18204098 2008
4
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 57
18204446 2008
5
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. 57
18204448 2008
6
Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12. 57
16642431 2006
7
Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. 57
16208513 2005
8
Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity. 57
15114372 2004
9
Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American families. 57
14658095 2004
10
Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. 57
10677315 2000
11
Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. 57
10072432 1999
12
A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. 57
9843983 1998
13
Interferons and other cytokines, genetics and beyond in COVID-19 and autoimmunity. 61
33563543 2021
14
Challenges to optimal rheumatology care: a patient-centered focus group study. 61
32333299 2020
15
Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis-Like Lupus Erythematosus. 61
29912772 2019
16
Male fertility potential alteration in rheumatic diseases: a systematic review. 61
27120778 2016
17
Rheumatic disease and carotid intima-media thickness: a systematic review and meta-analysis. 61
20150560 2010
18
The prognostic value of nailfold capillary changes for the development of connective tissue disease in children and adolescents with primary raynaud phenomenon: a follow-up study of 250 patients. 61
17014637 2006
19
Autoimmune C1 inhibitor deficiency: report of eight patients. 61
8356982 1993
20
Intravenous and oral cyclophosphamide pulse therapy in rheumatic diseases: side effects and complications. 61
8353982 1993
21
[The clinical aspects of the diagnosis of rheumatoid arthritis]. 61
1440313 1992
22
Recurrence of SLE in transplanted kidneys: a follow-up transplant biopsy study. 61
1336139 1992
23
Binding specificity of lupus anticoagulants and anticardiolipin antibodies. 61
3148207 1988
24
Nicardipine for the treatment of Raynaud's phenomena: a double blind crossover trial of a new calcium entry blocker. 61
3312603 1987
25
Systemic lupus erythematosus six years following chemotherapy for malignant lymphoma. 61
4048875 1985
26
Spontaneous and X-ray induced chromosomal aberrations in selected connective tissue diseases. 61
7363495 1980

Variations for Systemic Lupus Erythematosus 6

ClinVar genetic disease variations for Systemic Lupus Erythematosus 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGAM NM_000632.4(ITGAM):c.2853G>T (p.Met951Ile) SNV Uncertain significance 992515 GRCh37: 16:31340609-31340609
GRCh38: 16:31329288-31329288

Expression for Systemic Lupus Erythematosus 6

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 6.

Pathways for Systemic Lupus Erythematosus 6

GO Terms for Systemic Lupus Erythematosus 6

Sources for Systemic Lupus Erythematosus 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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