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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the musculoskeletal system and connective tissue

Systemic connective tissue disorders

Systemic lupus erythematosus

Other forms of systemic lupus erythematosus

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

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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

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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 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:

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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)

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Drugs & Therapeutics for Systemic Lupus Erythematosus 16

Search Clinical Trials , 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:

⁴⁰

Neutrophil, Bone Marrow, Heart, Ovary

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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	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. ⁵⁷	International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)...Kelly JA	18204446	2008
3	A retrospective review of the adverse effects of biological therapy and reasons for its discontinuation in a resource-limited setting. ⁶¹	Rood JW...Du Toit R	33403971	2020
4	Methods to improve medication adherence in patients with chronic inflammatory rheumatic diseases: a systematic literature review. ⁶¹	Lavielle M...Molto A	30116556	2018
5	[Fine specificity of anti-β2glycoprotein I antibodies in systemic autoimmune diseases is mostly directed against domain 1]. ⁶¹	Nalli C...Tincani A	21776445	2011
6	Cryptococcosis in human immunodeficiency virus-negative patients. ⁶¹	Kiertiburanakul S...Sungkanuparph S	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	Hellmich B...Schnabel A	12133752	2002
8	[Heart and autonomic nervous system in connective tissue disorders]. ⁶¹	Lagana B...Bonomo L	9522599	1997
9	Recurrent acute proptosis in atypical systemic lupus erythematosus. ⁶¹	Gray RE...Ansell BM	2612122	1989
10	Risk factors for thrombosis in lupus patients. ⁶¹	Hasselaar P...De Groot PG	2512863	1989
11	Organ-specific antibodies against ovary in patients with systemic lupus erythematosus. ⁶¹	Moncayo-Naveda H...Lauritzen C	2729399	1989
12	Inhibition of complement-mediated solubilisation of antigen-antibody complexes by serum factor(s) in patients with various connective tissue diseases. ⁶¹	Webb J...Whaley K	3492194	1986

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Genes for Systemic Lupus Erythematosus 16

Genes related to Systemic Lupus Erythematosus 16 (6 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DNASE1L3	Deoxyribonuclease 1 Like 3	Protein Coding	1377.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	22019780
2	C1R	Complement C1r	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
3	DNASE1	Deoxyribonuclease 1	Protein Coding	350	Causative germline mutation ⁵⁸
4	PRKCD	Protein Kinase C Delta	Protein Coding	350	Causative germline mutation ⁵⁸
5	C1QA	Complement C1q A Chain	Protein Coding	25	Susceptibility factor ⁵⁸
6	C4A	Complement C4A (Rodgers Blood Group)	Protein Coding	25	Susceptibility factor ⁵⁸

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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

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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	Immune response Lectin induced complement pathway ²³ Show member pathways Activation of C3 and C5 ⁶⁵ Complement Activation Pathways ⁶⁶ Immune response Alternative complement pathway ²³ Immune response Classical complement pathway ²³ Regulation of Complement cascade ⁶⁵	11.74	C4A C1R C1QA
2	Creation of C4 and C2 activators ⁶⁵ Show member pathways Alternative complement activation ⁶⁵ Classical antibody-mediated complement activation ⁶⁵ Complement cascade ⁶⁵ Ficolins bind to repetitive carbohydrate structures on the target cell surface ⁶⁵ Initial triggering of complement ⁶⁵ Lectin pathway of complement activation ⁶⁵ Terminal pathway of complement ⁶⁵	11.66	C4A C1R C1QA
3	Complement and coagulation cascades ³⁶ ¹	11.59	C4A C1R C1QA
4	Staphylococcus aureus infection ³⁶	11.31	C4A C1R C1QA
5	Complement Pathway ⁶³ Show member pathways Alternative Complement Pathway ⁶³ Classical Complement Pathway ⁶³ Complement Activation ¹ Lectin Induced Complement Pathway ⁶³	11.04	C4A C1R C1QA
6	Pertussis ³⁶	10.68	C4A C1R C1QA

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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

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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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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 (6 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