Systemic Lupus Erythematosus 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases Immune diseases Skin diseases Nephrological diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the musculoskeletal system and connective tissue

Systemic connective tissue disorders

Systemic lupus erythematosus

Other forms of systemic lupus erythematosus

Orphanet: ⁵⁹

Rare systemic and rhumatological diseases

External Ids:

OMIM ⁵⁷ 614420

MeSH ⁴⁴ D008180

ICD10 via Orphanet ³⁴ M32.8

Orphanet ⁵⁹ ORPHA300345

MedGen ⁴² C3280742

UMLS ⁷² C3280742

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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

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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:

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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

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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

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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

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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

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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	Al-Mayouf SM...Alkuraya FS	22019780	2011
2	Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. ⁸	International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)...Kelly JA	18204446	2008
3	Methods to improve medication adherence in patients with chronic inflammatory rheumatic diseases: a systematic literature review. ³⁸	Lavielle M...Molto A	30116556	2018
4	[Fine specificity of anti-β2glycoprotein I antibodies in systemic autoimmune diseases is mostly directed against domain 1]. ³⁸	Nalli C...Tincani A	21776445	2011
5	Cryptococcosis in human immunodeficiency virus-negative patients. ³⁸	Kiertiburanakul S...Sungkanuparph S	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	Hellmich B...Schnabel A	12133752	2002
7	[Heart and autonomic nervous system in connective tissue disorders]. ³⁸	Lagana B...Bonomo L	9522599	1997
8	Recurrent acute proptosis in atypical systemic lupus erythematosus. ³⁸	Gray RE...Ansell BM	2612122	1989
9	Risk factors for thrombosis in lupus patients. ³⁸	Hasselaar P...De Groot PG	2512863	1989
10	Organ-specific antibodies against ovary in patients with systemic lupus erythematosus. ³⁸	Moncayo-Naveda H...Lauritzen C	2729399	1989
11	Inhibition of complement-mediated solubilisation of antigen-antibody complexes by serum factor(s) in patients with various connective tissue diseases. ³⁸	Webb J...Whaley K	3492194	1986

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Genes for Systemic Lupus Erythematosus 16

Genes related to Systemic Lupus Erythematosus 16 (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DNASE1L3	Deoxyribonuclease 1 Like 3	Protein Coding	1378.15	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries (show sections)	22019780
2	DNASE1	Deoxyribonuclease 1	Protein Coding	350	Causative germline mutation ⁵⁹
3	PRKCD	Protein Kinase C Delta	Protein Coding	350	Causative germline mutation ⁵⁹
4	C1QA	Complement C1q A Chain	Protein Coding	25	Susceptibility factor ⁵⁹
5	C4A	Complement C4A (Rodgers Blood Group)	Protein Coding	25	Susceptibility factor ⁵⁹

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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

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Expression for Systemic Lupus Erythematosus 16

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

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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	Creation of C4 and C2 activators ⁶⁶ Show member pathways Alternative complement activation ⁶⁶ Classical antibody-mediated complement activation ⁶⁶ Complement cascade ⁶⁶ Ficolins bind to repetitive carbohydrate structures on the target cell surface ⁶⁶ Initial triggering of complement ⁶⁶ Lectin pathway of complement activation ⁶⁶ Terminal pathway of complement ⁶⁶	11.53	C4A C1QA
2	Complement and coagulation cascades ³⁷ ¹	11.46	C4A C1QA
3	Immune response Lectin induced complement pathway ²² Show member pathways Activation of C3 and C5 ⁶⁶ Immune response Alternative complement pathway ²² Immune response Classical complement pathway ²² Regulation of Complement cascade ⁶⁶	11.38	C4A C1QA
4	Complement Pathway ⁶⁴ Show member pathways Alternative Complement Pathway ⁶⁴ Classical Complement Pathway ⁶⁴ Complement Activation ¹ Complement Activation Pathways ⁶⁷ Lectin Induced Complement Pathway ⁶⁴	11.18	C4A C1QA
5	Pertussis ³⁷	10.84	C4A C1QA
6	Staphylococcus aureus infection ³⁷	10.61	C4A C1QA

Sources

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

Sources for Systemic Lupus Erythematosus 16

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Systemic Lupus Erythematosus 16 (SLEB16)

Aliases & Classifications for Systemic Lupus Erythematosus 16

MalaCards integrated aliases for Systemic Lupus Erythematosus 16:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Systemic Lupus Erythematosus 16

Related Diseases for Systemic Lupus Erythematosus 16

Diseases in the Lupus Erythematosus family:

Diseases related to Systemic Lupus Erythematosus 16 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Systemic Lupus Erythematosus 16

Human phenotypes related to Systemic Lupus Erythematosus 16:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Systemic Lupus Erythematosus 16

Interventional clinical trials:

Genetic Tests for Systemic Lupus Erythematosus 16

Genetic tests related to Systemic Lupus Erythematosus 16:

Anatomical Context for Systemic Lupus Erythematosus 16

MalaCards organs/tissues related to Systemic Lupus Erythematosus 16:

Publications for Systemic Lupus Erythematosus 16

Articles related to Systemic Lupus Erythematosus 16:

Genes for Systemic Lupus Erythematosus 16

Genes related to Systemic Lupus Erythematosus 16 (5 elite genes):

Variations for Systemic Lupus Erythematosus 16

ClinVar genetic disease variations for Systemic Lupus Erythematosus 16:

Expression for Systemic Lupus Erythematosus 16

Pathways for Systemic Lupus Erythematosus 16

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

GO Terms for Systemic Lupus Erythematosus 16

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

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

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

Sources for Systemic Lupus Erythematosus 16