SLEB16
MCID: SYS061
MIFTS: 31

Systemic Lupus Erythematosus 16 (SLEB16) malady

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

Aliases & Classifications for Systemic Lupus Erythematosus 16

Aliases & Descriptions for Systemic Lupus Erythematosus 16:

Name: Systemic Lupus Erythematosus 16 54 24 66 29 13 69
Sleb16 24 66
Autosomal Systemic Lupus Erythematosus 56
Familial Systemic Lupus Erythematosus 56
Autosomal Sle 56
Familial Sle 56

Characteristics:

Orphanet epidemiological data:

56
autosomal systemic lupus erythematosus
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
systemic lupus erythematosus 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614420
Orphanet 56 ORPHA300345
ICD10 via Orphanet 34 M32.8
MedGen 40 C3280742
MeSH 42 D008180

Summaries for Systemic Lupus Erythematosus 16

UniProtKB/Swiss-Prot : 66 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 chanarin-dorfman syndrome, and has symptoms including systemic lupus erythematosus and nephritis. An important gene associated with Systemic Lupus Erythematosus 16 is DNASE1L3 (Deoxyribonuclease 1 Like 3). The drugs Vaccines and Hydroxychloroquine have been mentioned in the context of this disorder. Affiliated tissues include bone, neutrophil and skin.

Description from OMIM: 614420

Related Diseases for Systemic Lupus Erythematosus 16

Symptoms & Phenotypes for Systemic Lupus Erythematosus 16

Symptoms by clinical synopsis from OMIM:

614420

Clinical features from OMIM:

614420

Human phenotypes related to Systemic Lupus Erythematosus 16:

32
id 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

Drugs for Systemic Lupus Erythematosus 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 113)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4,Phase 2,Phase 1
2
Hydroxychloroquine Approved Phase 3,Phase 2,Phase 1 118-42-3 3652
3
Acetaminophen Approved Phase 2, Phase 3,Phase 1 103-90-2 1983
4
Diphenhydramine Approved Phase 2, Phase 3,Phase 1 58-73-1, 147-24-0 3100
5
Histamine Approved, Investigational Phase 2, Phase 3 75614-87-8, 51-45-6 774
6
Prednisone Approved, Vet_approved Phase 2, Phase 3,Phase 1 53-03-2 5865
7
Promethazine Approved Phase 2, Phase 3,Phase 1 60-87-7 4927
8
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
9 Anti-Infective Agents Phase 3,Phase 1,Phase 2
10 Antimalarials Phase 3,Phase 1,Phase 2
11 Antiparasitic Agents Phase 3,Phase 1,Phase 2
12 Antiprotozoal Agents Phase 3,Phase 1,Phase 2
13 Antirheumatic Agents Phase 3,Phase 2,Phase 1
14 Analgesics Phase 2, Phase 3
15 Analgesics, Non-Narcotic Phase 2, Phase 3
16 Anesthetics Phase 2, Phase 3
17 Anesthetics, Local Phase 2, Phase 3
18 Anti-Allergic Agents Phase 2, Phase 3,Phase 1
19 Antiemetics Phase 2, Phase 3
20 Anti-Inflammatory Agents Phase 2, Phase 3
21 Antineoplastic Agents, Hormonal Phase 2, Phase 3
22 Antipruritics Phase 2, Phase 3
23 Antipyretics Phase 2, Phase 3
24 Autonomic Agents Phase 2, Phase 3
25 Central Nervous System Depressants Phase 2, Phase 3
26 Dermatologic Agents Phase 2, Phase 3
27 Gastrointestinal Agents Phase 2, Phase 3
28 glucocorticoids Phase 2, Phase 3,Phase 1
29 Histamine Antagonists Phase 2, Phase 3
30 Histamine H1 Antagonists Phase 2, Phase 3
31
Histamine Phosphate Phase 2, Phase 3 51-74-1 65513
32 Hormone Antagonists Phase 2, Phase 3,Phase 1
33 Hormones Phase 2, Phase 3,Phase 1
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
35 Hypnotics and Sedatives Phase 2, Phase 3
36 Neurotransmitter Agents Phase 2, Phase 3
37 Peripheral Nervous System Agents Phase 2, Phase 3
38
Abatacept Approved Phase 1, Phase 2 332348-12-6 10237
39
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
40
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
41
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
42
Mycophenolic acid Approved Phase 2 24280-93-1 446541
43
Obinutuzumab Approved Phase 2 949142-50-1
44
Azathioprine Approved Phase 2 446-86-6 2265
45
chloroquine Approved, Vet_approved Phase 2 54-05-7 2719
46
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
47
Ustekinumab Approved, Investigational Phase 2 815610-63-0
48
Denosumab Approved Phase 1, Phase 2 615258-40-7
49
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
50
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793

Interventional clinical trials:

(show all 34)
id Name Status NCT ID Phase
1 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4
2 Multicenter Study Assessing the Efficacy & Safety of Hydroxychloroquine Sulfate in Patients With Systemic Lupus Erythematosus or Cutaneous Lupus Erythematosus With Active Lupus Erythematosus Specific Skin Lesion Completed NCT01551069 Phase 3
3 A Study to Evaluate the Safety of Rituximab Retreatment in Subjects With Systemic Lupus Erythematosus Completed NCT00137969 Phase 2, Phase 3
4 Efficacy of 595 nm Pulsed-dye Laser in Treatment of Discoid Lupus Erythematosus Recruiting NCT03178188 Phase 2, Phase 3
5 A Trial of Rosuvastatin in Systemic Lupus Erythematosus Completed NCT01170585 Phase 2
6 Vitamin D to Improve Endothelial Function in SLE Completed NCT01911169 Phase 2
7 Subcutaneous Treatment In Randomized Subjects To Evaluate Safety And Efficacy In Generalized Lupus Erythematosus Completed NCT01405196 Phase 2
8 Efficacy and Safety of Atacicept in Systemic Lupus Erythematosus Completed NCT01972568 Phase 2
9 Abatacept for SLE Arthritis (IM101-330) Recruiting NCT02429934 Phase 1, Phase 2
10 Rituximab Objective Outcome Measures Trial in SLE Recruiting NCT03054259 Phase 2
11 A Study to Evaluate the Safety and Efficacy of Obinutuzumab Compared With Placebo in Participants With Lupus Nephritis (LN) Recruiting NCT02550652 Phase 2
12 A Phase 2a, Efficacy and Safety Study of Ustekinumab in Systemic Lupus Erythematosus Active, not recruiting NCT02349061 Phase 2
13 Multicenter Trial Evaluating the Immunogenicity of HPV Vaccination in Girls on Immunosuppressive Therapy. Active, not recruiting NCT01687192 Phase 2
14 The Influence of Plaquenil/Hydroxychloroquine (HCQ) on Insulin Secretion Not yet recruiting NCT02910076 Phase 1, Phase 2
15 Denosumab for Glucocorticoid-treated Children With Rheumatic Disorders Not yet recruiting NCT02418273 Phase 1, Phase 2
16 An Adaptive Phase II Study to Evaluate the Efficacy, Pharmacodynamics, Safety and Tolerability of GSK2586184 Terminated NCT01777256 Phase 2
17 Study of LJP 394 (Abetimus Sodium) in Lupus Patients Withdrawn NCT00390091 Phase 2
18 Study to Determine if Gardasil Vaccine is Safe and Effective in Lupus Patients Unknown status NCT01741012 Phase 1
19 Omalizumab for Lupus Active, not recruiting NCT01716312 Phase 1
20 Autologous Polyclonal Tregs for Lupus Active, not recruiting NCT02428309 Phase 1
21 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of JNJ-56022473 in Subjects With Systemic Lupus Erythematosus Not yet recruiting NCT02920424 Phase 1
22 Nonmyeloablative Allo Stem Cell Transplant for Severe Autoimmune Diseases Terminated NCT00849745 Phase 1
23 Physical Exercise, Endothelial Function and Progenitor Endothelial Cells in Systemic Lupus Erythematosus Patients Unknown status NCT01712529
24 Aerobic Exercise on Improving Sleep in Systemic Lupus Erythematosus. Unknown status NCT02037971
25 Long-term Immunogenicity of a HPV Vaccine in SLE Completed NCT02477254
26 Omega 3 Fatty Acids and Systemic Lupus Erythematosus Completed NCT02524795
27 Evaluation of the Influence of Food Regimen on Oshadi D Absorption Completed NCT01327352
28 Topical 10 % Nifedipine Versus 5% Sildenafil in Secondary Raynaud Completed NCT03027674 Early Phase 1
29 Characteristics and Disease Progression of Mixed Connective Tissue Disease and Systemic Lupus Erythematosus Recruiting NCT00582881
30 Women Empowered to Live With Lupus Study Recruiting NCT02988661
31 Utility of a Measure of Lupus Low Disease Activity State (LLDAS) in SLE Active, not recruiting NCT02769195
32 Observational Multicenter Case-control Study to Assess Nailfold Capillary Abnormalities in Systemic Lupus Erythematosus Enrolling by invitation NCT02801812
33 Using the Cholinergic Anit-Inflammatory Pathway to Treat Systemic Lupus Musculoskeletal Pain Not yet recruiting NCT02822989
34 Lupus and Observance Not yet recruiting NCT03019926

Search NIH Clinical Center for Systemic Lupus Erythematosus 16

Genetic Tests for Systemic Lupus Erythematosus 16

Genetic tests related to Systemic Lupus Erythematosus 16:

id Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 16 29 24 DNASE1L3

Anatomical Context for Systemic Lupus Erythematosus 16

MalaCards organs/tissues related to Systemic Lupus Erythematosus 16:

39
Bone, Neutrophil, Skin, Kidney, Bone Marrow

Publications for Systemic Lupus Erythematosus 16

Variations for Systemic Lupus Erythematosus 16

ClinVar genetic disease variations for Systemic Lupus Erythematosus 16:

6
id 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:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.62 DNASE1L3 PRKCD

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

id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 8.62 DNASE1L3 PRKCD

Sources for Systemic Lupus Erythematosus 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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