MCID: SYS061
MIFTS: 35

Systemic Lupus Erythematosus 16

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

Aliases & Classifications for Systemic Lupus Erythematosus 16

MalaCards integrated aliases for Systemic Lupus Erythematosus 16:

Name: Systemic Lupus Erythematosus 16 57 75 29 13 6 73
Sleb16 57 75
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
Orphanet 59 ORPHA300345
ICD10 via Orphanet 34 M32.8
MedGen 42 C3280742
MeSH 44 D008180
SNOMED-CT via HPO 69 258211005 52845002 55464009
UMLS 73 C3280742

Summaries for Systemic Lupus Erythematosus 16

UniProtKB/Swiss-Prot : 75 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

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

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

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:

41
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
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 26385745 )
2015
2
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. ( 19910391 )
2010
3
Familial systemic lupus erythematosus with hypercalcemia. ( 18574574 )
2008
4
Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus. ( 17402365 )
2007
5
Coexistence of familial systemic lupus erythematosus and localized scleroderma. ( 1428438 )
1992
6
[Familial systemic lupus erythematosus in mother and son]. ( 1920942 )
1991
7
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 exosome GO:0070062 9.26 C1QA C4A DNASE1 PRKCD
2 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 endodeoxyribonuclease activity GO:0004520 8.96 DNASE1 DNASE1L3
4 deoxyribonuclease activity GO:0004536 8.62 DNASE1 DNASE1L3

Sources for Systemic Lupus Erythematosus 16

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
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