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 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:

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

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

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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

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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:

#	Related Disease	Score	Top Affiliating Genes
1	lupus erythematosus	27.3	C1QA C4A DNASE1 DNASE1L3
2	systemic lupus erythematosus	26.8	C1QA C4A DNASE1 DNASE1L3
3	complement deficiency	9.9
4	fragile x syndrome	9.7
5	localized scleroderma	9.7
6	immunodeficiency due to a classical component pathway complement deficiency	9.2	C1QA C4A

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

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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

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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:

⁴¹

Bone, Neutrophil, Skin, Kidney, Bone Marrow, B Cells

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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 )	Aggarwal R....Scofield R.H.	2010
3	Familial systemic lupus erythematosus with hypercalcemia. ( 18574574 )	Kohli U....Bagga A.	2008
4	Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus. ( 17402365 )	Andre J....Bonnefoy-Berard N.	2007
5	Coexistence of familial systemic lupus erythematosus and localized scleroderma. ( 1428438 )	Shelkovitz-Shiloh I....Feinstein A.	1992
6	[Familial systemic lupus erythematosus in mother and son]. ( 1920942 )	Akamine M....Sato T.	1991
7	Coincidence of familial systemic lupus erythematosus and the fragile X syndrome. ( 3495228 )	Belghiti D....Sobel A.	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	1378.17	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	PRKCD	Protein Kinase C Delta	Protein Coding	350	Causative germline mutation ⁵⁹
3	DNASE1	Deoxyribonuclease 1	Protein Coding	350	Causative germline mutation ⁵⁹
4	C4A	Complement C4A (Rodgers Blood Group)	Protein Coding	25	Susceptibility factor ⁵⁹
5	C1QA	Complement C1q A Chain	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	Assembly	Location
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	C1QA C4A
2	Complement and coagulation cascades ¹ ³⁷	11.46	C1QA C4A
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	C1QA C4A
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	C1QA C4A
5	Pertussis ³⁷	10.84	C1QA C4A
6	Staphylococcus aureus infection ³⁷	10.37	C1QA C4A

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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	9.26	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

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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

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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

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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

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⁴⁴ MeSH

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⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia