MCID: SYS061
MIFTS: 35

Systemic Lupus Erythematosus 16

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

Aliases & Classifications for Systemic Lupus Erythematosus 16

MalaCards integrated aliases for Systemic Lupus Erythematosus 16:

Name: Systemic Lupus Erythematosus 16 53 71 28 13 69
Sleb16 53 71
Autosomal Systemic Lupus Erythematosus 55
Familial Systemic Lupus Erythematosus 55
Autosomal Sle 55
Familial Sle 55

Characteristics:

Orphanet epidemiological data:

55
autosomal systemic lupus erythematosus
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
systemic lupus erythematosus 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614420
Orphanet 55 ORPHA300345
ICD10 via Orphanet 33 M32.8
MedGen 39 C3280742
MeSH 41 D008180
SNOMED-CT via HPO 65 258211005 52845002 55464009
UMLS 69 C3280742

Summaries for Systemic Lupus Erythematosus 16

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nephritis 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 neutrophil, bone and skin.

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:

53
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:

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

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 28 DNASE1L3

Anatomical Context for Systemic Lupus Erythematosus 16

MalaCards organs/tissues related to Systemic Lupus Erythematosus 16:

38
Neutrophil, Bone, Skin, Kidney, Bone Marrow

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

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 9.58 DNASE1 DNASE1L3 PRKCD
2 complement activation, classical pathway GO:0006958 9.46 C1QA C4A
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.43 DNASE1 DNASE1L3
4 regulation of complement activation GO:0030449 9.37 C1QA C4A
5 complement activation GO:0006956 9.32 C1QA C4A
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 9.16 DNASE1 DNASE1L3
2 endonuclease activity GO:0004519 8.96 DNASE1 DNASE1L3
3 deoxyribonuclease activity GO:0004536 8.62 DNASE1 DNASE1L3

Sources for Systemic Lupus Erythematosus 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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