SLEB16
MCID: SYS061
MIFTS: 36

Systemic Lupus Erythematosus 16 (SLEB16)

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

Aliases & Classifications for Systemic Lupus Erythematosus 16

MalaCards integrated aliases for Systemic Lupus Erythematosus 16:

Name: Systemic Lupus Erythematosus 16 58 76 30 13 6 74
Sleb16 58 76
Autosomal Systemic Lupus Erythematosus 60
Lupus Erythematosus, Systemic, Type 16 41
Familial Systemic Lupus Erythematosus 60
Autosomal Sle 60
Familial Sle 60

Characteristics:

Orphanet epidemiological data:

60
autosomal systemic lupus erythematosus
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
systemic lupus erythematosus 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614420
MeSH 45 D008180
ICD10 via Orphanet 35 M32.8
Orphanet 60 ORPHA300345
MedGen 43 C3280742
SNOMED-CT via HPO 70 258211005 52845002 55464009
UMLS 74 C3280742

Summaries for Systemic Lupus Erythematosus 16

UniProtKB/Swiss-Prot : 76 Systemic lupus erythematosus 16: A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is 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 16, also known as sleb16, is related to lupus erythematosus and systemic lupus erythematosus. An important gene associated with Systemic Lupus Erythematosus 16 is DNASE1L3 (Deoxyribonuclease 1 Like 3), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include bone, neutrophil and skin, and related phenotypes are systemic lupus erythematosus and nephritis

Description from OMIM: 614420

Related Diseases for Systemic Lupus Erythematosus 16

Graphical network of the top 20 diseases related to Systemic Lupus Erythematosus 16:



Diseases related to Systemic Lupus Erythematosus 16

Symptoms & Phenotypes for Systemic Lupus Erythematosus 16

Human phenotypes related to Systemic Lupus Erythematosus 16:

33
# Description HPO Frequency HPO Source Accession
1 systemic lupus erythematosus 33 HP:0002725
2 nephritis 33 HP:0000123

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
nephritis

Laboratory Abnormalities:
anti-neutrophil cytoplasmic antibodies

Immunology:
systemic lupus erythematosus, childhood onset

Clinical features from OMIM:

614420

Drugs & Therapeutics for Systemic Lupus Erythematosus 16

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 16

Genetic Tests for Systemic Lupus Erythematosus 16

Genetic tests related to Systemic Lupus Erythematosus 16:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 16 30 DNASE1L3

Anatomical Context for Systemic Lupus Erythematosus 16

MalaCards organs/tissues related to Systemic Lupus Erythematosus 16:

42
Bone, Neutrophil, Skin, Kidney, Bone Marrow, B Cells

Publications for Systemic Lupus Erythematosus 16

Articles related to Systemic Lupus Erythematosus 16:

# Title Authors Year
1
Long-term renal outcomes and related risk factors of familial systemic lupus erythematosus patients with lupus nephritis
. ( 29932408 )
2018
2
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 26385745 )
2015
3
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 19910391 )
2010
4
Familial systemic lupus erythematosus with hypercalcemia. ( 18574574 )
2008
5
Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus. ( 17402365 )
2007
6
Coexistence of familial systemic lupus erythematosus and localized scleroderma. ( 1428438 )
1992
7
[Familial systemic lupus erythematosus in mother and son]. ( 1920942 )
1991
8
Coincidence of familial systemic lupus erythematosus and the fragile X syndrome. ( 3495228 )
1986

Variations for Systemic Lupus Erythematosus 16

ClinVar genetic disease variations for Systemic Lupus Erythematosus 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNASE1L3 DNASE1L3, 1-BP DEL, 643T deletion Pathogenic

Expression for Systemic Lupus Erythematosus 16

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 16.

Pathways for Systemic Lupus Erythematosus 16

GO Terms for Systemic Lupus Erythematosus 16

Cellular components related to Systemic Lupus Erythematosus 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 C1QA C4A DNASE1 DNASE1L3 PRKCD

Biological processes related to Systemic Lupus Erythematosus 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.61 DNASE1 DNASE1L3 PRKCD
2 complement activation, classical pathway GO:0006958 9.46 C1QA C4A
3 regulation of complement activation GO:0030449 9.4 C1QA C4A
4 complement activation GO:0006956 9.37 C1QA C4A
5 DNA catabolic process, endonucleolytic GO:0000737 9.32 DNASE1 DNASE1L3
6 DNA catabolic process GO:0006308 9.26 DNASE1 DNASE1L3
7 neutrophil activation involved in immune response GO:0002283 9.16 DNASE1 DNASE1L3
8 regulation of acute inflammatory response GO:0002673 8.96 DNASE1 DNASE1L3
9 regulation of neutrophil mediated cytotoxicity GO:0070948 8.62 DNASE1 DNASE1L3

Molecular functions related to Systemic Lupus Erythematosus 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.26 DNASE1 DNASE1L3
2 endonuclease activity GO:0004519 9.16 DNASE1 DNASE1L3
3 deoxyribonuclease activity GO:0004536 8.96 DNASE1 DNASE1L3
4 deoxyribonuclease I activity GO:0004530 8.62 DNASE1 DNASE1L3

Sources for Systemic Lupus Erythematosus 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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