MCTD
MCID: MXD005
MIFTS: 59

Mixed Connective Tissue Disease (MCTD)

Categories: Bone diseases, Cardiovascular diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Mixed Connective Tissue Disease

MalaCards integrated aliases for Mixed Connective Tissue Disease:

Name: Mixed Connective Tissue Disease 12 74 52 58 36 54 43 15 17 71
Sharp Syndrome 52 58
Mctd 52 58
Connective Tissue Disease Overlap Syndrome 12
Mixed Collagen Vascular Disease 12

Characteristics:

Orphanet epidemiological data:

58
mixed connective tissue disease
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


Summaries for Mixed Connective Tissue Disease

KEGG : 36 Mixed connective tissue disease (MCTD) is a rare autoimmune disease characterized by a combination of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with elevated antibodies to U1 small nuclear ribonucleoprotein (U1-RNP). The most common clinical manifestations of this disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal, and central nervous system manifestations. The worst prognosis and high mortality are associated with the presence of pulmonary disease. Therapy should be individualised for each patient to address the specific organs involved and the severity of underlying disease activity. Inflammatory manifestations usually respond to steroid treatment, whereas clinical sclerodermatous manifestations such as sclerodactyly, and pulmonary interstitial disease more often require cytotoxic immunosuppressive treatment.

MalaCards based summary : Mixed Connective Tissue Disease, also known as sharp syndrome, is related to myositis and thyroiditis. An important gene associated with Mixed Connective Tissue Disease is SNRNP70 (Small Nuclear Ribonucleoprotein U1 Subunit 70), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. The drugs Cilostazol and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, and related phenotypes are arthritis and gastroesophageal reflux

Disease Ontology : 12 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.

NIH Rare Diseases : 52 Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus , scleroderma , and polymyositis . Some affected people may also have symptoms of rheumatoid arthritis . Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis ; heart, lung and skin abnormalities; kidney disease ; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. Treatment may include medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) , corticosteroids and immune-suppressing drugs to help manage symptoms.

Wikipedia : 74 Mixed connective tissue disease commonly abbreviated as MCTD, is an autoimmune disease characterized by... more...

Related Diseases for Mixed Connective Tissue Disease

Diseases related to Mixed Connective Tissue Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 701)
# Related Disease Score Top Affiliating Genes
1 myositis 31.3 TNF IL6 IFNG HLA-DRB1
2 thyroiditis 31.2 TNF IL6 IL10
3 transverse myelitis 31.1 TNF IL6 IL10
4 microscopic polyangiitis 31.0 TNF HLA-DRB1
5 autoimmune hepatitis 30.9 TNF IL10 HLA-DRB1 CD40LG
6 interstitial lung disease 30.9 TNF IL6 IL10 IFNG CD40LG
7 lung disease 30.9 TNF IL6 IL10 IFNG CD40LG
8 pericarditis 30.9 TNF IL6 IFNG CD40LG
9 myelitis 30.8 TNF IL6 IL10 CD40LG
10 exanthem 30.8 TNF IL6 IL10 CD40LG
11 thrombotic thrombocytopenic purpura 30.8 HLA-DRB1 CD40LG ADAMTS13
12 systemic scleroderma 30.8 TNFSF13B TNF SNRNP70 IL6 IFNG CD40LG
13 vasculitis 30.8 TNFSF13B TNF IL6 HSPD1 CD40LG
14 telangiectasis 30.7 SNRNP70 BMPR2 ACVRL1
15 aseptic meningitis 30.7 TNF IL10 IFNG CD40LG
16 esophagitis 30.7 TNF IL6 IL10
17 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.7 TNFSF13B IL10 IFNG
18 antiphospholipid syndrome 30.7 TNF CD40LG ADAMTS13
19 childhood type dermatomyositis 30.6 TNF SNRNP70 IL6 CD40LG
20 tenosynovitis 30.6 TNF IL6 CD40LG
21 myocarditis 30.6 TNF IL6 IL10 IFNG CD40LG
22 fasciitis 30.5 TNF IL6 IFNG
23 meningitis 30.5 TNF IL6 IL10 IFNG CD40LG
24 acute transverse myelitis 30.5 IL6 IL10
25 portal hypertension 30.5 TNF CD40LG BMPR2 ADAMTS13
26 lymphadenitis 30.5 TNF IL10 IFNG
27 spondylitis 30.5 TNF IL6 IL10 IFNG
28 keratoconjunctivitis 30.5 TNF IL6 IFNG
29 spondyloarthropathy 1 30.4 TNF HSPD1 CD40LG
30 spondyloarthropathy 30.4 TNF IL6 IL10 IFNG
31 limited scleroderma 30.4 SNRNP70 RNPC3 HLA-DRB1 BMPR2
32 disseminated intravascular coagulation 30.4 TNF IL6 IL10 ADAMTS13
33 juvenile rheumatoid arthritis 30.4 TNF IL6 IL10 IFNG HLA-DRB1
34 lupus erythematosus 30.3 TNF SNRPD3 SNRNP70 IL10 IFNG HLA-DRB1
35 iritis 30.3 TNF IL6 CD40LG
36 iridocyclitis 30.3 TNF IL6 CD40LG
37 sarcoidosis 1 30.3 TNF IFNG HLA-DRB1 CD40LG
38 retinal vein occlusion 30.3 TNF IL6 CD40LG
39 myasthenia gravis 30.3 TNFSF13B TNF IL10 IFNG
40 neuromyelitis optica 30.2 TNFSF13B IL6 HLA-DRB1 CD40LG
41 purpura 30.2 TNFSF13B TNF IL6 IL10 CD40LG ADAMTS13
42 familial mediterranean fever 30.2 TNF IL6 IL10
43 chronic inflammatory demyelinating polyradiculoneuropathy 30.2 IL10 IFNG HLA-DRB1
44 localized scleroderma 30.2 TNFSF13B TNF IL6
45 b-cell growth factor 30.2 IL6 IFNG
46 polyradiculoneuropathy 30.2 IL10 IFNG HLA-DRB1 CD40LG
47 encephalitis 30.2 TNF IL6 IL10 CD40LG
48 castleman disease 30.2 IL6 IL10 IFNG
49 pemphigus 30.2 TNF IL10 HLA-DRB1 CD40LG
50 erythema multiforme 30.2 TNF IL6 IFNG

Graphical network of the top 20 diseases related to Mixed Connective Tissue Disease:



Diseases related to Mixed Connective Tissue Disease

Symptoms & Phenotypes for Mixed Connective Tissue Disease

Human phenotypes related to Mixed Connective Tissue Disease:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
2 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
5 dyspnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002094
6 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
7 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
8 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
9 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
10 scleroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100324
11 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
12 gastritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005263
13 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
14 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
15 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
16 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
17 myositis 58 31 frequent (33%) Frequent (79-30%) HP:0100614
18 keratoconjunctivitis sicca 58 31 frequent (33%) Frequent (79-30%) HP:0001097
19 psychosis 58 31 frequent (33%) Frequent (79-30%) HP:0000709
20 pleuritis 58 31 frequent (33%) Frequent (79-30%) HP:0002102
21 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
22 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
23 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
24 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
25 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
26 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
27 hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001878
28 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
29 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
30 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
31 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
32 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
33 purpura 58 31 occasional (7.5%) Occasional (29-5%) HP:0000979
34 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
35 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
36 prolonged bleeding time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003010
37 mediastinal lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100721
38 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
39 interstitial pulmonary abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0006530
40 avascular necrosis 31 occasional (7.5%) HP:0010885
41 aseptic necrosis 58 Occasional (29-5%)
42 lymphadenopathy 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.91 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.91 BMPR2 IL10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.91 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.91 IL10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.91 HLA-DRB1 IL10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.91 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.91 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.91 IL10 SNRPA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.91 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.91 SNRPA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.91 HLA-DRB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.91 BMPR2 IL10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.91 HLA-DRB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.91 HLA-DRB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.91 BMPR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.91 HLA-DRB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.91 IL10
18 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.91 SNRPA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.91 SNRPA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.91 IL10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.91 IL10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.91 BMPR2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.91 IL10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.91 SNRPA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.91 BMPR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.91 IL10
27 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.91 HLA-DRB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.91 IL10
29 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.91 BMPR2 HLA-DRB1 IL10 SNRPA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.91 IL10
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.91 BMPR2 IL10

MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.91 ACVRL1 BMPR2 HNRNPC HSPD1 HSPG2 IFNG
2 hematopoietic system MP:0005397 9.9 ACVRL1 ADAMTS13 BMPR2 CD40LG HSPG2 IFNG
3 mortality/aging MP:0010768 9.77 ACVRL1 ADAMTS13 BMPR2 CD40LG HNRNPC HSPD1
4 muscle MP:0005369 9.23 ACVRL1 BMPR2 HSPD1 HSPG2 IFNG IL10

Drugs & Therapeutics for Mixed Connective Tissue Disease

Drugs for Mixed Connective Tissue Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
2
tannic acid Approved Phase 4 1401-55-4
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
5
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
6
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
7 Vaccines Phase 4
8 Fibrinolytic Agents Phase 4
9 Platelet Aggregation Inhibitors Phase 4
10 Anti-Asthmatic Agents Phase 4
11 Neuroprotective Agents Phase 4
12 Autonomic Agents Phase 4
13 Bronchodilator Agents Phase 4
14 Phosphodiesterase 3 Inhibitors Phase 4
15 Phosphodiesterase Inhibitors Phase 4
16 Vasodilator Agents Phase 4
17 Immunosuppressive Agents Phase 4
18 Immunologic Factors Phase 4
19 Anti-Infective Agents Phase 4
20 Anti-Bacterial Agents Phase 4
21 Antibiotics, Antitubercular Phase 4
22 Antifungal Agents Phase 4
23
Alendronate Approved Phase 2, Phase 3 121268-17-5, 66376-36-1 2088
24
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
25
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
26
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
27 glucocorticoids Phase 2, Phase 3
28 Alkylating Agents Phase 2, Phase 3
29 Antineoplastic Agents, Immunological Phase 2, Phase 3
30 Antirheumatic Agents Phase 2, Phase 3
31 Respiratory System Agents Phase 2, Phase 3
32 Protective Agents Phase 2, Phase 3
33 Antiviral Agents Phase 2, Phase 3
34 N-monoacetylcystine Phase 2, Phase 3
35 Free Radical Scavengers Phase 2, Phase 3
36 Antioxidants Phase 2, Phase 3
37 Antidotes Phase 2, Phase 3
38 Expectorants Phase 2, Phase 3
39
Sodium citrate Approved, Investigational Early Phase 1 68-04-2
40
Nifedipine Approved Early Phase 1 21829-25-4 4485
41
Midazolam Approved, Illicit 59467-70-8 4192
42
Lidocaine Approved, Vet_approved 137-58-6 3676
43
Citric acid Approved, Nutraceutical, Vet_approved Early Phase 1 77-92-9 311
44
Calcium Approved, Nutraceutical Early Phase 1 7440-70-2 271
45 Immunoglobulins
46 Antibodies
47 Tocolytic Agents Early Phase 1
48 Citrate Early Phase 1
49 Sildenafil Citrate Early Phase 1 171599-83-0
50 Calcium, Dietary Early Phase 1

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
3 Sirolimus in Patients With Connective Tissue Disease Related Thrombocytopenia (CTD-TP): a Single-arm, Open-label Clinical Trial in China Active, not recruiting NCT03688191 Phase 4 Sirolimus
4 Double Blind Controlled Trial of Alendronate for the Treatment of Childhood and Adolescent Glucocorticoid-Associated Osteopenia and Osteoporosis Unknown status NCT00209469 Phase 2, Phase 3 alendronate sodium
5 Double-Blinded Controlled Trial of Alendronate for the Treatment of Childhood and Adolescent Glucocorticoid- Associated Osteopenia and Osteoporosis Completed NCT00277251 Phase 2, Phase 3 Alendronate
6 A Randomized, Double Blind Controlled Trial Comparing Rituximab Against Intravenous Cyclophosphamide in Connective Tissue Disease Associated Interstitial Lung Disease Recruiting NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
7 Clinical Trial of Oral Medication for CTD-ILD Treatment Terminated NCT01424033 Phase 2, Phase 3 N-Acetylcysteine
8 A Phase I Study of the Safety and Feasibility of Central Intravenous Delivery of Allogeneic Human Cardiosphere-Derived Stem Cells in Patients With Pulmonary Arterial Hypertension ALPHA Trial Recruiting NCT03145298 Phase 1
9 A Phase I-II Open- Label Study to Assess the Safety, Tolerability, and Preliminary Efficacy of a Single Intravenous Dose of Autologous Adipose Stem Cell (Adult Human) to Subjects With Refractory Rheumatoid Arthritis, Relapsing Systemic Lupus Erythematosus or Sharp's Syndrome Terminated NCT02741362 Phase 1
10 Prevalence of Pulmonary Arterial Hypertension in Patients With Connective Tissue in Egyptian Patients ( Single Center Study) Unknown status NCT02768259
11 Detection Of Anti-Double Stranded Deoxyribonucleic Acid Antibodies In Autoimmune Rheumatic Diseases: Comparison Between Immunofluorescence And Enzyme Immunoassay Unknown status NCT03303508
12 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
13 Auto-immunity and Prognosis of Pulmonary Arterial Hypertension Completed NCT01208792
14 Molecular Reclassification to Find Clinically Useful Biomarkers for Systemic Autoimmune Diseases: Cross Sectional Cohort Completed NCT02890121
15 Connective Tissue Disease Leg Ulcer Etiology Study Completed NCT00522002
16 Evaluation of Yellow Fever Vaccine in Patients With Rheumatic Diseases Under Low Immunosuppression Level and Residing in a Risk Area Completed NCT03430388
17 The CARRA Registry Completed NCT01697254
18 The Early Recognition of Pulmonary Arterial Hypertension Completed NCT00609349
19 "Color Doppler Ultrasound Comparison of Topical 10 % Nifedipine Versus 5% Sildenafil in Secondary Raynaud: A Randomized, Double-blind, Placebo-controlled Pilot Study" Completed NCT03027674 Early Phase 1 10% nifedipine cream;5% sildenafil cream
20 Immune Response to Small Nuclear Ribonucleoprotein Autoantigens Recruiting NCT00582881
21 New Orleans Pulmonary Hypertension Biobank Recruiting NCT03269630
22 Application of MRI for Inflammatory Musculoskeletal Involvement in Systemic Lupus Erithematosus (SLE) Recruiting NCT04035265
23 Atherosclerosis in Juvenile Mixed Connective Tissue Disease Active, not recruiting NCT03581162
24 In Vivo Intravascular Diagnostics and Evaluation of New Therapeutic Modalities in Systemic Autoimmune and Coronary Artery Disease Patients Active, not recruiting NCT02510092
25 Incidence, Clinical Characteristics and Evaluation of Prognostic and Diagnostic Markers of Interstitial Pneumonia With Autoimmune Features (IPAF) - a Multicenter Prospective Study Not yet recruiting NCT03870828

Search NIH Clinical Center for Mixed Connective Tissue Disease

Cochrane evidence based reviews: mixed connective tissue disease

Genetic Tests for Mixed Connective Tissue Disease

Anatomical Context for Mixed Connective Tissue Disease

MalaCards organs/tissues related to Mixed Connective Tissue Disease:

40
Lung, Heart, Kidney, Skin, T Cells, Thyroid, B Cells

Publications for Mixed Connective Tissue Disease

Articles related to Mixed Connective Tissue Disease:

(show top 50) (show all 1946)
# Title Authors PMID Year
1
Nonspecific interstitial pneumonia associated with collagen vascular disease: analysis of CT features to distinguish the various types. 54 61
19443969 2009
2
Multiple specificities of autoantibodies against hnRNP A/B proteins in systemic rheumatic diseases and hnRNP L as an associated novel autoantigen. 54 61
17453722 2007
3
A murine model of mixed connective tissue disease induced with U1 small nuclear RNP autoantigen. 54 61
16453294 2006
4
Lack of circulating autoantibodies to bone morphogenetic protein receptor-II or activin receptor-like kinase 1 in mixed connective tissue disease patients with pulmonary arterial hypertension. 54 61
15509626 2005
5
Absence of autoantibodies against correctly folded recombinant fibrillin-1 protein in systemic sclerosis patients. 54 61
16277674 2005
6
Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. 54 61
15743477 2005
7
Mixed connective tissue disease associated with antineutrophil cytoplasmic antibodies against proteinase-3 and systemic atherosclerosis: a case report. 54 61
15459817 2004
8
[Comparison between line immunoassay (LIA) and enzyme-linked immunosorbent assay (ELISA) for the determination of antibodies to extractable nuclear antigenes (ENA) with reference to other laboratory results and clinical features]. 54 61
12399881 2002
9
Structural analysis of TCRalpha and beta chains from human T-Cell clones specific for small nuclear ribonucleoprotein polypeptides Sm-D, Sm-B and U1-70 kDa: TCR complementarity determining region 3 usage appears highly conserved. 54 61
11439168 2001
10
Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. 54 61
11169260 2001
11
Characterization of recombinant human autoantibody fragments directed toward the autoantigenic U1-70K protein. 54 61
11069087 2000
12
Autoantibodies against chaperonin CCT in human sera with rheumatic autoimmune diseases: comparison with antibodies against other Hsp60 family proteins. 54 61
11048656 2000
13
Fine specificity of anti-fibrillin-1 autoantibodies in primary pulmonary hypertension syndrome. 54 61
10849372 2000
14
Kinetics of anti-fibrillin-1 autoantibodies in MCTD and CREST syndrome. 54 61
10756089 2000
15
[Autoantibodies to the heterogeneous nuclear ribonucleoproteins and the autoimmune diseases]. 54 61
12567457 1999
16
Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. 54 61
10323445 1999
17
[Mixed connective tissue disease--etiology, pathogenesis, clinical significance, treatment]. 54 61
10645148 1999
18
Respiratory complications in mixed connective tissue disease. 54 61
9917963 1998
19
Most anticardiolipin antibodies in mixed connective tissue disease are beta2-glycoprotein independent. 54 61
9458233 1998
20
D-penicillamine-induced pemphigus foliaceus with autoantibodies to desmoglein-1 in a patient with mixed connective tissue disease. 54 61
9216536 1997
21
Autoantibodies to the A/B proteins of the heterogeneous nuclear ribonucleoprotein complex: novel tools for the diagnosis of rheumatic diseases. 54 61
8957102 1996
22
Identification of autoantibodies to the I protein of the heterogeneous nuclear ribonucleoprotein complex in patients with systemic sclerosis. 54 61
8843857 1996
23
Clonotype analysis of peripheral blood T cells and autoantigen-reactive T cells from patients with mixed connective tissue disease. 54 61
7930595 1994
24
The association of myasthenia gravis and connective tissue diseases--the role of Sjøgren's syndrome. 54 61
8144128 1994
25
Immunogenetics of inflammatory myopathies. 54 61
8156144 1993
26
Mixed connective tissue disease presenting myasthenia gravis. 54 61
8312661 1993
27
Mixed connective tissue disease and Sjögren's syndrome, accompanied by HTLV-I infection. 54 61
8101109 1993
28
Anticardiolipin antibodies are associated with pulmonary hypertension in patients with mixed connective tissue disease or systemic lupus erythematosus. 54 61
8481653 1993
29
Spatial localization of distinct rheumatic disease-associated epitopes and the RNA "cap" of the U1 snRNP particle. 54 61
1374734 1992
30
In-vivo epidermal nuclear reactions: a selective process. 54 61
1873202 1991
31
HLA in systemic scleroderma (PSS) and familial scleroderma. 54 61
2050902 1991
32
Myeloid calcium binding proteins: expression in the differentiated HL-60 cells and detection in sera of patients with connective tissue diseases. 54 61
2292594 1990
33
Class II ribonuclease H comigrates with, but is distinct from, the third largest subunit of calf thymus RNA polymerase I. 54 61
1698096 1990
34
[Clinical usefulness of determining the antibodies to soluble nuclear antigens in various collagen diseases]. 54 61
2125351 1990
35
Detection of autoantibodies to Sm antigen in systemic lupus erythematosus by immunodiffusion, ELISA and immunoblotting: variability of incidence related to assays and ethnic origin of patients. 54 61
2146135 1990
36
[A case of mixed connective tissue disease developed into overlap syndrome of progressive systemic sclerosis, systemic lupus erythematosus, polymyositis and Sjögren's syndrome]. 54 61
2222196 1990
37
Extremely high levels of multiple cytokines in the cord blood of neonates born to mothers with systemic autoimmune diseases. 61
31865067 2020
38
Somatosensory profile of a patient with mixed connective tissue disease and Sjögren syndrome. 61
31879015 2020
39
Increased Endothelial Activation in Patients with Mixed Connective Tissue Disease. 61
31831329 2020
40
Clinical Outcomes of Hip Arthroscopy in Patients with Systemic Inflammatory Diseases Compared to Matched Controls at a Minimum of 2-Year Follow-Up. 61
32035988 2020
41
Nailfold capillaroscopy and autoimmune connective tissue diseases in patients from a Portuguese nailfold capillaroscopy clinic. 61
31451935 2020
42
Therapeutic Options for the Treatment of Interstitial Lung Disease Related to Connective Tissue Diseases. A Narrative Review. 61
32028635 2020
43
The Serum Cell-Free microRNA Expression Profile in MCTD, SLE, SSc, and RA Patients. 61
31936082 2020
44
Pulmonary infection due to Acrophialophora fusispora in a patient with underlying mixed connective tissue disease and chronic pulmonary aspergillosis: A case report and review of literature. 61
32008965 2020
45
Whole blood gene expression profiling distinguishes systemic sclerosis-overlap syndromes from other subsets. 61
31945216 2020
46
2019 Diagnostic criteria for mixed connective tissue disease (MCTD): From the Japan research committee of the ministry of health, labor, and welfare for systemic autoimmune diseases. 61
31903831 2020
47
Chondral grafts for condylar reconstruction in treatment of temporomandibular joint arthritis in a mixed connective tissue disease patient. 61
31512336 2019
48
Psychological distress and quality of life are improved in autoimmune patients through Tandem-Psychotherapy, combining individual hypnosis and eye movement desensitization and reprocessing (EMDR) treatment for trauma, followed by supportive-expressive group therapy. 61
31858339 2019
49
Progranulin autoantibodies in systemic sclerosis and autoimmune connective tissue disorders: A preliminary study. 61
31502765 2019
50
[A multicenter study of the condition of children's rheumatic disease associated medical resources in Fujian province]. 61
31795556 2019

Variations for Mixed Connective Tissue Disease

Expression for Mixed Connective Tissue Disease

Search GEO for disease gene expression data for Mixed Connective Tissue Disease.

Pathways for Mixed Connective Tissue Disease

Pathways related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 TNFSF13B TNF IL6 IL10 IFNG HLA-DRB1
2
Show member pathways
13.26 TNFSF13B TNF IL6 IL10 CD40LG BMPR2
3
Show member pathways
13.08 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2
4
Show member pathways
12.59 TNF IL10 IFNG HLA-DRB1 CD40LG
5
Show member pathways
12.54 TNF IL6 IL10 IFNG CD40LG
6
Show member pathways
12.53 TNF IL6 IL10 IFNG HLA-DRB1
7 12.5 TNFSF13B TNF IL10 IFNG CD40LG
8
Show member pathways
12.5 TNFSF13B TNF IL6 IL10 IFNG HSPD1
9
Show member pathways
12.15 TNF IL10 IFNG HLA-DRB1 CD40LG
10 12.13 TNF IL6 IL10 HSPD1
11 11.99 TNF IL6 IL10 IFNG HSPD1 HLA-DRB1
12
Show member pathways
11.98 TNF IL6 IL10 IFNG
13 11.93 TNFSF13B TNF IL6 IFNG
14
Show member pathways
11.9 TNF IL6 IFNG HSPG2 HSPD1
15 11.89 TNF IL6 IL10 IFNG
16 11.82 TNF IL6 IL10 IFNG
17 11.74 TNF IL10 IFNG
18 11.72 TNF IL6 IL10
19
Show member pathways
11.71 TNF IFNG CD40LG
20
Show member pathways
11.69 TNFSF13B TNF CD40LG
21 11.69 TNFSF13B TNF IL6 IFNG HLA-DRB1
22 11.66 TNF IL6 IL10 IFNG
23 11.61 TNF IL6 IL10 IFNG
24 11.57 TNF IL6 HSPD1
25 11.53 SNRPD3 RNPC3 LSM2
26
Show member pathways
11.53 TNF IL6 IFNG CD40LG
27 11.51 TNF IL6 IFNG
28 11.49 TNF IL6 IL10
29 11.44 TNF IL6 IFNG
30 11.28 TNF IL6 IL10
31 11.24 TNF IL6 IL10 IFNG
32 11.22 TNF IL6 IFNG
33 11.05 TNF IL6 IL10 IFNG CD40LG
34 10.96 TNFSF13B TNF IL6 IL10 HSPG2 CD40LG
35 10.48 TNF IL6 IL10 IFNG HLA-DRB1

GO Terms for Mixed Connective Tissue Disease

Cellular components related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 TNFSF13B TNF IL6 IL10 IFNG HSPG2
2 extracellular space GO:0005615 9.85 TNFSF13B TNF IL6 IL10 IFNG HSPG2
3 cell surface GO:0009986 9.8 TNF HSPD1 HLA-DRB1 CD40LG BMPR2 ADAMTS13
4 catalytic step 2 spliceosome GO:0071013 9.62 SNRPN SNRPD3 LSM2 HNRNPC
5 U4/U6 x U5 tri-snRNP complex GO:0046540 9.54 SNRPN SNRPD3 LSM2
6 U4 snRNP GO:0005687 9.4 SNRPN SNRPD3
7 U1 snRNP GO:0005685 9.26 SNRPN SNRPD3 SNRPA SNRNP70
8 spliceosomal complex GO:0005681 9.17 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2

Biological processes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.98 TNF IL6 IL10 HSPG2 CD40LG
2 cellular response to lipopolysaccharide GO:0071222 9.89 TNF IL6 IL10 ADAMTS13
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.82 TNF IL6 IFNG
4 positive regulation of endothelial cell proliferation GO:0001938 9.81 IL10 BMPR2 ACVRL1
5 response to glucocorticoid GO:0051384 9.8 TNF IL6 IL10
6 mRNA processing GO:0006397 9.8 SNRPD3 SNRPA SNRNP70 RNPC3 LSM2 HNRNPC
7 positive regulation of T cell proliferation GO:0042102 9.79 TNFSF13B IL6 CD40LG
8 positive regulation of interleukin-6 production GO:0032755 9.78 TNF IL6 HSPD1
9 humoral immune response GO:0006959 9.77 TNF IL6 IFNG
10 RNA splicing GO:0008380 9.73 SNRPN SNRPD3 SNRPA RNPC3 LSM2 HNRNPC
11 interleukin-12-mediated signaling pathway GO:0035722 9.71 IL10 IFNG HNRNPDL
12 immune response GO:0006955 9.7 TNFSF13B TNF IL6 IL10 IFNG HLA-DRB1
13 B cell proliferation GO:0042100 9.69 IL10 HSPD1 CD40LG
14 positive regulation of neuroinflammatory response GO:0150078 9.66 TNF IL6
15 lymphangiogenesis GO:0001946 9.66 BMPR2 ACVRL1
16 positive regulation of chemokine biosynthetic process GO:0045080 9.65 TNF IFNG
17 negative regulation of amyloid-beta clearance GO:1900222 9.65 TNF IFNG
18 positive regulation of MHC class II biosynthetic process GO:0045348 9.65 IL10 IFNG
19 negative regulation of lipid storage GO:0010888 9.63 TNF IL6
20 positive regulation of JAK-STAT cascade GO:0046427 9.63 TNF IL6 IL10
21 retina vasculature development in camera-type eye GO:0061298 9.62 BMPR2 ACVRL1
22 artery development GO:0060840 9.62 BMPR2 ACVRL1
23 positive regulation of interleukin-12 production GO:0032735 9.61 IFNG HSPD1 CD40LG
24 lymphatic endothelial cell differentiation GO:0060836 9.58 BMPR2 ACVRL1
25 negative regulation of cytokine secretion involved in immune response GO:0002740 9.57 TNF IL10
26 regulation of immunoglobulin secretion GO:0051023 9.56 TNF CD40LG
27 immunoglobulin secretion GO:0048305 9.55 TNFSF13B CD40LG
28 venous blood vessel development GO:0060841 9.52 BMPR2 ACVRL1
29 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.49 TNF IFNG
30 receptor biosynthetic process GO:0032800 9.48 TNF IL10
31 positive regulation of vitamin D biosynthetic process GO:0060557 9.4 TNF IFNG
32 positive regulation of nitrogen compound metabolic process GO:0051173 9.37 TNF IFNG
33 mRNA splicing, via spliceosome GO:0000398 9.17 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2
34 endothelial cell apoptotic process GO:0072577 9.13 TNF IL10 BMPR2

Molecular functions related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 TNFSF13B TNF SNRPN SNRPD3 SNRPA SNRNP70
2 RNA binding GO:0003723 9.81 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 BMPR2 ACVRL1
4 U1 snRNA binding GO:0030619 9.43 SNRPA SNRNP70
5 tumor necrosis factor receptor binding GO:0005164 9.43 TNFSF13B TNF CD40LG
6 transforming growth factor beta-activated receptor activity GO:0005024 9.4 BMPR2 ACVRL1
7 U1 snRNP binding GO:1990446 9.37 SNRPD3 SNRPA
8 BMP receptor activity GO:0098821 9.32 BMPR2 ACVRL1
9 cytokine activity GO:0005125 9.1 TNFSF13B TNF IL6 IL10 IFNG CD40LG

Sources for Mixed Connective Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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