SLEB16
MCID: SYS061
MIFTS: 35

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 57 73 29 13 6 71
Sleb16 57 73
Autosomal Systemic Lupus Erythematosus 58
Lupus Erythematosus, Systemic, Type 16 39
Familial Systemic Lupus Erythematosus 58
Autosomal Sle 58
Familial Sle 58

Characteristics:

Orphanet epidemiological data:

58
autosomal systemic lupus erythematosus
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
systemic lupus erythematosus 16:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

OMIM® 57 614420
MeSH 44 D008180
ICD10 via Orphanet 33 M32.8
Orphanet 58 ORPHA300345
MedGen 41 C3280742
SNOMED-CT via HPO 68 258211005 52845002 55464009
UMLS 71 C3280742

Summaries for Systemic Lupus Erythematosus 16

UniProtKB/Swiss-Prot : 73 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 complement deficiency and aicardi-goutieres syndrome. An important gene associated with Systemic Lupus Erythematosus 16 is DNASE1L3 (Deoxyribonuclease 1 Like 3), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include neutrophil, bone marrow and heart, and related phenotypes are systemic lupus erythematosus and nephritis

More information from OMIM: 614420

Related Diseases for Systemic Lupus Erythematosus 16

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 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 complement deficiency 30.3 C4A C1R
2 aicardi-goutieres syndrome 29.7 DNASE1L3 DNASE1
3 systemic lupus erythematosus 29.7 DNASE1L3 DNASE1 C4A C1R C1QA
4 glomerulonephritis 29.4 C4A C1QA
5 lupus erythematosus 28.1 DNASE1L3 DNASE1 C4A C1R C1QA
6 purpura 10.2
7 complement component 2 deficiency 10.2
8 proteinuria, chronic benign 10.2
9 neutropenia 10.2
10 proliferative glomerulonephritis 10.2
11 thyroiditis 10.2
12 hashimoto thyroiditis 10.0
13 thrombocytopenic purpura, autoimmune 10.0
14 anemia, autoimmune hemolytic 10.0
15 aicardi-goutieres syndrome 1 10.0
16 sjogren syndrome 10.0
17 fragile x syndrome 10.0
18 thrombocytopenia 1 10.0
19 autoimmune lymphoproliferative syndrome, type iii 10.0
20 deficiency anemia 10.0
21 cutaneous lupus erythematosus 10.0
22 hypophosphatemia 10.0
23 hypogonadotropic hypogonadism 10.0
24 nephrotic syndrome 10.0
25 renal tubular acidosis 10.0
26 hypothyroidism 10.0
27 thrombocytopenia 10.0
28 pericarditis 10.0
29 syphilis 10.0
30 systemic scleroderma 10.0
31 hemolytic anemia 10.0
32 lymphopenia 10.0
33 end stage renal disease 10.0
34 localized scleroderma 10.0
35 distal renal tubular acidosis 10.0
36 encephalopathy 10.0
37 subacute cutaneous lupus erythematosus 10.0
38 discoid lupus erythematosus 10.0
39 exanthem 9.9
40 complement component 3 deficiency 9.9 C4A C1R
41 hemolytic uremic syndrome, atypical 1 9.8 C4A C1R
42 anus cancer 9.8
43 immunodeficiency due to a classical component pathway complement deficiency 9.5 C4A C1R C1QA
44 complement component 5 deficiency 9.4 C4A C1R C1QA

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:

31
# Description HPO Frequency HPO Source Accession
1 systemic lupus erythematosus 31 HP:0002725
2 nephritis 31 HP:0000123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Kidneys:
nephritis

Laboratory Abnormalities:
anti-neutrophil cytoplasmic antibodies

Immunology:
systemic lupus erythematosus, childhood onset

Clinical features from OMIM®:

614420 (Updated 05-Mar-2021)

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 29 DNASE1L3

Anatomical Context for Systemic Lupus Erythematosus 16

MalaCards organs/tissues related to Systemic Lupus Erythematosus 16:

40
Neutrophil, Bone Marrow, Heart, Ovary

Publications for Systemic Lupus Erythematosus 16

Articles related to Systemic Lupus Erythematosus 16:

(show all 12)
# Title Authors PMID Year
1
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. 57 6
22019780 2011
2
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 57
18204446 2008
3
A retrospective review of the adverse effects of biological therapy and reasons for its discontinuation in a resource-limited setting. 61
33403971 2020
4
Methods to improve medication adherence in patients with chronic inflammatory rheumatic diseases: a systematic literature review. 61
30116556 2018
5
[Fine specificity of anti-β2glycoprotein I antibodies in systemic autoimmune diseases is mostly directed against domain 1]. 61
21776445 2011
6
Cryptococcosis in human immunodeficiency virus-negative patients. 61
16288998 2006
7
Low Fcgamma receptor III and high granulocyte colony-stimulating factor serum levels correlate with the risk of infection in neutropenia due to Felty's syndrome or systemic lupus erythematosus. 61
12133752 2002
8
[Heart and autonomic nervous system in connective tissue disorders]. 61
9522599 1997
9
Recurrent acute proptosis in atypical systemic lupus erythematosus. 61
2612122 1989
10
Risk factors for thrombosis in lupus patients. 61
2512863 1989
11
Organ-specific antibodies against ovary in patients with systemic lupus erythematosus. 61
2729399 1989
12
Inhibition of complement-mediated solubilisation of antigen-antibody complexes by serum factor(s) in patients with various connective tissue diseases. 61
3492194 1986

Variations for Systemic Lupus Erythematosus 16

ClinVar genetic disease variations for Systemic Lupus Erythematosus 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNASE1L3 NM_004944.4(DNASE1L3):c.643del (p.Trp215fs) Deletion Pathogenic 30256 rs1575496354 3:58183609-58183609 3:58197882-58197882

Expression for Systemic Lupus Erythematosus 16

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

Pathways for Systemic Lupus Erythematosus 16

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 C4A C1R C1QA
2
Show member pathways
11.66 C4A C1R C1QA
3 11.59 C4A C1R C1QA
4 11.31 C4A C1R C1QA
5
Show member pathways
11.04 C4A C1R C1QA
6 10.68 C4A C1R C1QA

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 exosome GO:0070062 9.46 PRKCD DNASE1 C4A C1R
2 extracellular region GO:0005576 9.1 PRKCD DNASE1L3 DNASE1 C4A C1R C1QA
3 blood microparticle GO:0072562 8.96 C4A C1R

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.69 C4A C1R C1QA
2 apoptotic process GO:0006915 9.65 PRKCD DNASE1L3 DNASE1
3 innate immune response GO:0045087 9.63 C4A C1R C1QA
4 complement activation, classical pathway GO:0006958 9.61 C4A C1R C1QA
5 regulation of complement activation GO:0030449 9.54 C4A C1R C1QA
6 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.49 DNASE1L3 DNASE1
7 complement activation GO:0006956 9.43 C4A C1R C1QA
8 DNA catabolic process, endonucleolytic GO:0000737 9.4 DNASE1L3 DNASE1
9 DNA catabolic process GO:0006308 9.32 DNASE1L3 DNASE1
10 neutrophil activation involved in immune response GO:0002283 9.16 DNASE1L3 DNASE1
11 regulation of acute inflammatory response GO:0002673 8.96 DNASE1L3 DNASE1
12 regulation of neutrophil mediated cytotoxicity GO:0070948 8.62 DNASE1L3 DNASE1

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 DNASE1L3 DNASE1
2 endonuclease activity GO:0004519 9.16 DNASE1L3 DNASE1
3 deoxyribonuclease activity GO:0004536 8.96 DNASE1L3 DNASE1
4 deoxyribonuclease I activity GO:0004530 8.62 DNASE1L3 DNASE1

Sources for Systemic Lupus Erythematosus 16

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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