SLEB16
MCID: SYS061
MIFTS: 36

Systemic Lupus Erythematosus 16 (SLEB16)

Categories: Blood diseases, 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 74 29 13 6 72
Sleb16 57 74
Autosomal Systemic Lupus Erythematosus 59
Lupus Erythematosus, Systemic, Type 16 40
Familial Systemic Lupus Erythematosus 59
Autosomal Sle 59
Familial Sle 59

Characteristics:

Orphanet epidemiological data:

59
autosomal systemic lupus erythematosus
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
systemic lupus erythematosus 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614420
MeSH 44 D008180
ICD10 via Orphanet 34 M32.8
Orphanet 59 ORPHA300345
MedGen 42 C3280742
UMLS 72 C3280742

Summaries for Systemic Lupus Erythematosus 16

UniProtKB/Swiss-Prot : 74 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 systemic lupus erythematosus and 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

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 37)
# Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 27.3 DNASE1L3 DNASE1 C4A C1QA
2 lupus erythematosus 27.2 DNASE1L3 DNASE1 C4A C1QA
3 complement deficiency 10.2
4 purpura 10.1
5 autoimmune disease 10.0
6 complement component 2 deficiency 10.0
7 neutropenia 10.0
8 thrombocytopenia 10.0
9 glomerulonephritis 10.0
10 proliferative glomerulonephritis 10.0
11 thrombocytopenic purpura, autoimmune 9.9
12 aicardi-goutieres syndrome 1 9.9
13 sjogren syndrome 9.9
14 fragile x syndrome 9.9
15 thrombocytopenia 1 9.9
16 autoimmune lymphoproliferative syndrome, type iii 9.9
17 cutaneous lupus erythematosus 9.9
18 hypophosphatemia 9.9
19 aicardi-goutieres syndrome 9.9
20 hypogonadotropic hypogonadism 9.9
21 nephrotic syndrome 9.9
22 hypothyroidism 9.9
23 ischemia 9.9
24 syphilis 9.9
25 systemic scleroderma 9.9
26 lymphopenia 9.9
27 thyroiditis 9.9
28 end stage renal failure 9.9
29 localized scleroderma 9.9
30 encephalopathy 9.9
31 subacute cutaneous lupus erythematosus 9.9
32 discoid lupus erythematosus 9.9
33 exanthem 9.8
34 lymphocytic leukemia 9.7
35 anus cancer 9.7
36 axonal neuropathy 9.7
37 immunodeficiency due to a classical component pathway complement deficiency 9.2 C4A 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:

32
# Description HPO Frequency HPO Source Accession
1 systemic lupus erythematosus 32 HP:0002725
2 nephritis 32 HP:0000123

Symptoms via clinical synopsis from OMIM:

57
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lupus Genetic Studies; Lupus Family Registry & Repository Completed NCT00071175

Search 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:

41
Bone, Neutrophil, Skin, Kidney, Bone Marrow, Heart, Ovary

Publications for Systemic Lupus Erythematosus 16

Articles related to Systemic Lupus Erythematosus 16:

(show all 11)
# Title Authors PMID Year
1
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. 8 71
22019780 2011
2
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 8
18204446 2008
3
Methods to improve medication adherence in patients with chronic inflammatory rheumatic diseases: a systematic literature review. 38
30116556 2018
4
[Fine specificity of anti-β2glycoprotein I antibodies in systemic autoimmune diseases is mostly directed against domain 1]. 38
21776445 2011
5
Cryptococcosis in human immunodeficiency virus-negative patients. 38
16288998 2006
6
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. 38
12133752 2002
7
[Heart and autonomic nervous system in connective tissue disorders]. 38
9522599 1997
8
Recurrent acute proptosis in atypical systemic lupus erythematosus. 38
2612122 1989
9
Risk factors for thrombosis in lupus patients. 38
2512863 1989
10
Organ-specific antibodies against ovary in patients with systemic lupus erythematosus. 38
2729399 1989
11
Inhibition of complement-mediated solubilisation of antigen-antibody complexes by serum factor(s) in patients with various connective tissue diseases. 38
3492194 1986

Variations for Systemic Lupus Erythematosus 16

ClinVar genetic disease variations for Systemic Lupus Erythematosus 16:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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 PRKCD DNASE1L3 DNASE1 C4A C1QA

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 PRKCD DNASE1L3 DNASE1
2 complement activation, classical pathway GO:0006958 9.46 C4A C1QA
3 regulation of complement activation GO:0030449 9.4 C4A C1QA
4 complement activation GO:0006956 9.37 C4A C1QA
5 DNA catabolic process, endonucleolytic GO:0000737 9.32 DNASE1L3 DNASE1
6 neutrophil activation involved in immune response GO:0002283 9.26 DNASE1L3 DNASE1
7 DNA catabolic process GO:0006308 9.16 DNASE1L3 DNASE1
8 regulation of acute inflammatory response GO:0002673 8.96 DNASE1L3 DNASE1
9 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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