MCID: MXD005
MIFTS: 66

Mixed Connective Tissue Disease

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

Aliases & Classifications for Mixed Connective Tissue Disease

MalaCards integrated aliases for Mixed Connective Tissue Disease:

Name: Mixed Connective Tissue Disease 12 72 49 55 36 51 41 14 69
Sharp Syndrome 49 55
Mctd 49 55
Connective Tissue Disease Overlap Syndrome 12
Mixed Collagen Vascular Disease 12

Characteristics:

Orphanet epidemiological data:

55
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:



Summaries for Mixed Connective Tissue Disease

NIH Rare Diseases : 49 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. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms. Last updated: 12/29/2014

MalaCards based summary : Mixed Connective Tissue Disease, also known as sharp syndrome, is related to pulmonary hypertension, primary, 1 and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity, and has symptoms including nephropathy, xerostomia and psychosis. An important gene associated with Mixed Connective Tissue Disease is RNPC3 (RNA Binding Region (RNP1, RRM) Containing 3), and among its related pathways/superpathways are PEDF Induced Signaling and Akt Signaling. The drugs Cilostazol and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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.

Wikipedia : 72 Mixed connective tissue disease (also known as Sharp\'s syndrome), commonly abbreviated as MCTD, is an... 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 393)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 30.8 ACVRL1 BMPR2
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.5 HSPD1 IFNG IL10
3 transverse myelitis 30.2 IL10 IL6 TNF
4 aseptic meningitis 30.2 IFNG IL10 TNF
5 spondylitis 30.1 CD40LG IL6 TNF
6 anca-associated vasculitis 30.1 HLA-DRB1 IL6
7 microscopic polyangiitis 30.1 HLA-DRB1 IL10 TNF
8 lymphadenitis 30.0 IFNG IL10 TNF
9 interstitial lung disease 29.9 IFNG IL10 IL6 TNF
10 myocarditis 29.9 CD40LG IL6 TNF
11 pneumonia 29.9 CD40LG IL10 IL6 TNF
12 purpura 29.8 ADAMTS13 CD40LG TNF
13 arthritis 29.8 HLA-DRB1 IFNG IL10 IL6 TNF
14 myasthenia gravis 29.6 IFNG IL10 TNF
15 visceral leishmaniasis 29.6 IFNG IL10 TNF
16 hemophagocytic lymphohistiocytosis 29.5 IFNG IL10 TNF
17 spondyloarthropathy 29.5 IFNG IL10 IL6 TNF
18 wegener granulomatosis 29.5 IFNG IL10 IL6 TNF
19 leishmaniasis 29.4 HLA-DRB1 IFNG IL10 TNF
20 meningitis 29.4 CD40LG IFNG IL10 IL6 TNF
21 rheumatoid arthritis 29.2 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
22 psoriasis 29.1 IFNG IL10 IL6 TNF
23 rheumatic disease 28.6 CD40LG HLA-DRB1 IFNG IL10 RNPC3 TNF
24 systemic lupus erythematosus 28.4 ADAMTS13 CD40LG HLA-DRB1 IFNG IL10 IL6
25 autoimmune disease 28.3 CD40LG HLA-DRB1 HSPD1 IFNG IL10 IL6
26 connective tissue disease 27.6 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DRB1 HSPD1
27 juvenile myasthenia gravis 10.5 HLA-DRB1 IL10
28 punctate inner choroidopathy 10.5 IL10 TNF
29 lupus erythematosus 10.5
30 tropical endomyocardial fibrosis 10.5 IL10 TNF
31 beryllium disease 10.5 HLA-DRB1 TNF
32 scorpion envenomation 10.5 IL6 TNF
33 multifocal choroiditis 10.5 IL10 TNF
34 tungiasis 10.5 IL10 TNF
35 endomyocardial fibrosis 10.5 IL10 TNF
36 transient hypogammaglobulinemia 10.4 IL10 TNF
37 angioimmunoblastic lymphadenopathy with dysproteinemia 10.4 IL6 TNF
38 eye lymphoma 10.4 IL10 IL6
39 critical limb ischemia 10.4 IL6 TNF
40 autoimmune pancreatitis 10.4 HLA-DRB1 TNF
41 acute transverse myelitis 10.4 IL10 IL6
42 choroiditis 10.4 IL10 TNF
43 pulmonary hypertension 10.4
44 streptococcal toxic-shock syndrome 10.4 IL6 TNF
45 null-cell leukemia 10.4 IL6 TNF
46 ross river fever 10.4 CD40LG IL10
47 scleroderma, familial progressive 10.4
48 retinitis pigmentosa 55 10.3 IL6 TNF
49 severe hemophilia a 10.3 HLA-DRB1 IL10 TNF
50 funisitis 10.3 IL10 IL6

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:

55 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
2 xerostomia 55 31 frequent (33%) Frequent (79-30%) HP:0000217
3 psychosis 55 31 frequent (33%) Frequent (79-30%) HP:0000709
4 purpura 55 31 occasional (7.5%) Occasional (29-5%) HP:0000979
5 skin rash 55 31 hallmark (90%) Very frequent (99-80%) HP:0000988
6 keratoconjunctivitis sicca 55 31 frequent (33%) Frequent (79-30%) HP:0001097
7 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
8 meningitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001287
9 arthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001369
10 joint swelling 55 31 frequent (33%) Frequent (79-30%) HP:0001386
11 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
12 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
13 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
14 hemolytic anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001878
15 pericarditis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001701
16 leukopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001882
17 fever 55 31 frequent (33%) Frequent (79-30%) HP:0001945
18 gastroesophageal reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0002020
19 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
20 dyspnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002094
21 pleuritis 55 31 frequent (33%) Frequent (79-30%) HP:0002102
22 pulmonary fibrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002206
23 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
24 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
25 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
26 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
27 autoimmunity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002960
28 prolonged bleeding time 55 31 occasional (7.5%) Occasional (29-5%) HP:0003010
29 myalgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003326
30 elevated erythrocyte sedimentation rate 55 31 hallmark (90%) Very frequent (99-80%) HP:0003565
31 gastritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005263
32 interstitial pulmonary abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0006530
33 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
34 aseptic necrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0010885
35 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
36 myocarditis 55 31 occasional (7.5%) Occasional (29-5%) HP:0012819
37 scleroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0100324
38 myositis 55 31 frequent (33%) Frequent (79-30%) HP:0100614
39 mediastinal lymphadenopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100721
40 chest pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0100749
41 lymphadenopathy 55 Occasional (29-5%)

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

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.78 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.78 IL10 BMPR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.78 IL10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.78 IL10 HLA-DRB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.78 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.78 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 IL10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 HLA-DRB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 HLA-DRB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.78 HLA-DRB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.78 HLA-DRB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.78 IL10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.78 IL10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 IL10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.78 BMPR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.78 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 BMPR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.78 IL10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.78 IL10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.78 IL10 BMPR2 HLA-DRB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.78 IL10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 IL10 BMPR2

MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 IFNG BMPR2 CD40LG IL10 HSPG2 ACVRL1
2 hematopoietic system MP:0005397 10.06 CD40LG IL10 HSPG2 ACVRL1 ADAMTS13 IFNG
3 mortality/aging MP:0010768 10.02 IFNG BMPR2 CD40LG IL10 HSPD1 HSPG2
4 embryo MP:0005380 9.98 IFNG BMPR2 IL10 HSPD1 HSPG2 ACVRL1
5 digestive/alimentary MP:0005381 9.93 IFNG HSPG2 ACVRL1 TNF IL10 IL6
6 muscle MP:0005369 9.86 IL10 HSPD1 HSPG2 ACVRL1 IFNG BMPR2
7 liver/biliary system MP:0005370 9.85 IFNG IL10 HSPG2 ACVRL1 TNF IL6
8 nervous system MP:0003631 9.81 BMPR2 CD40LG IL10 HSPD1 HSPG2 ACVRL1
9 respiratory system MP:0005388 9.5 IL10 HSPG2 ACVRL1 IFNG BMPR2 IL6
10 skeleton MP:0005390 9.17 BMPR2 IFNG CD40LG HSPG2 TNF IL10

Drugs & Therapeutics for Mixed Connective Tissue Disease

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
2 Vaccines Phase 4
3 Anti-Asthmatic Agents Phase 4
4 Autonomic Agents Phase 4
5 Bronchodilator Agents Phase 4
6 Fibrinolytic Agents Phase 4
7 Neuroprotective Agents Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Phosphodiesterase 3 Inhibitors Phase 4
10 Phosphodiesterase Inhibitors Phase 4
11 Platelet Aggregation Inhibitors Phase 4
12 Protective Agents Phase 4,Phase 2,Phase 3
13 Respiratory System Agents Phase 4,Phase 2,Phase 3
14 Vasodilator Agents Phase 4
15
Alendronate Approved Phase 2, Phase 3 121268-17-5, 66376-36-1 2088
16
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
17
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
18
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
19 Bone Density Conservation Agents Phase 2, Phase 3
20 glucocorticoids Phase 2, Phase 3
21 Alkylating Agents Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3
23 Immunosuppressive Agents Phase 2, Phase 3
24 Antidotes Phase 2, Phase 3
25 Anti-Infective Agents Phase 2, Phase 3
26 Antioxidants Phase 2, Phase 3
27 Antiviral Agents Phase 2, Phase 3
28 Expectorants Phase 2, Phase 3
29 N-monoacetylcystine Phase 2, Phase 3
30 Antibodies
31 Autoantibodies
32 Immunoglobulins

Interventional clinical trials:

(show all 14)

# 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 Alendronate Osteoporosis Study Completed NCT00277251 Phase 2, Phase 3 Alendronate
4 Rituximab Versus Cyclophosphamide in Connective Tissue Disease-ILD Recruiting NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
5 A Clinical Trial for CTD-ILD Treatment Terminated NCT01424033 Phase 2, Phase 3 N-Acetylcysteine
6 Safety and Efficacy of Adipose Derived Stem Cells in Refractory Rheumatoid Arthritis, Systemic Lupus Erythematosus or Sharp's Syndrome Terminated NCT02741362 Phase 1
7 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
8 Auto-immunity and Pulmonary Arterial Hypertension Completed NCT01208792
9 CLUE Study: Connective Tissue Disease Leg Ulcer Etiology Study Completed NCT00522002
10 The CARRA Registry Completed NCT01697254
11 Characteristics and Disease Progression of Mixed Connective Tissue Disease and Systemic Lupus Erythematosus Recruiting NCT00582881
12 Coronary Artery and Systemic Autoimmune Disease: Diagnostics and Treatment Recruiting NCT02510092
13 New Orleans Pulmonary Hypertension Biobank Recruiting NCT03269630
14 Yellow Fever Vaccine in Patients With Rheumatic Diseases Not yet recruiting NCT03430388

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:

38
Lung, Skin, Heart, Kidney, Bone, T Cells, Endothelial

Publications for Mixed Connective Tissue Disease

Articles related to Mixed Connective Tissue Disease:

(show top 50) (show all 579)
# Title Authors Year
1
Advocating for early interstitial lung disease detection in mixed connective tissue disease. ( 28977485 )
2018
2
Progression and mortality of interstitial lung disease in mixed connective tissue disease: a long-term observational nationwide cohort study. ( 28379478 )
2018
3
Successful treatment of Type B insulin resistance with mixed connective tissue disease by pulse glucocorticoids and cyclophosphamide. ( 28084020 )
2017
4
Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study. ( 29268795 )
2017
5
Treatment of Vasodilator-resistant Mixed Connective Tissue Disease-associated Pulmonary Arterial Hypertension with Glucocorticoid and Cyclophosphamide. ( 28202869 )
2017
6
Retinal Vasculitis and Choroidopathy in Pediatric-Onset Mixed Connective Tissue Disease. ( 28937479 )
2017
7
Facts and controversies in mixed connective tissue disease. ( 28864092 )
2017
8
Major depression: An under reported neuropsychiatric manifestation of Mixed Connective Tissue Disease. ( 28753451 )
2017
9
Serum KL-6 and surfactant protein-D as monitoring and predictive markers of interstitial lung disease in patients with systemic sclerosis and mixed connective tissue disease. ( 28275485 )
2017
10
Emergence of Smoldering ANCA-associated Glomerulonephritis During the Clinical Course of Mixed Connective Tissue Disease and SjAPgren's Syndrome. ( 29269683 )
2017
11
An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report. ( 28700492 )
2017
12
Mixed Connective Tissue Disease and Epitope Spreading: An Historical Cohort Study. ( 28248800 )
2017
13
Pulmonary-Limited Granulomatosis with Polyangiitis Coexisting with Mixed Connective Tissue Disease. ( 28592713 )
2017
14
Scleroderma Renal Crisis in Mixed Connective Tissue Disease With Full Renal Recovery Within 3 Months: A Case Report With Expanding Treatment Modalities to Treat Each Clinical Sign as an Independent Entity. ( 29051891 )
2017
15
Protein-losing Gastroenteropathy Related to Mixed Connective Tissue Disease: A Case Report of a Successful Outcome and Literature Review. ( 28768981 )
2017
16
Pediatric Mixed Connective Tissue Disease. ( 27032791 )
2016
17
The illness experience of youth with lupus/mixed connective tissue disease: a mixed methods analysis of patient and parent perspectives. ( 27125290 )
2016
18
A case of idiopathic portal hypertension associated with nodular regenerative hyperplasia-like nodule of the liver and mixed connective tissue disease. ( 27151480 )
2016
19
Mixed connective tissue disease-enigma variations? ( 27436003 )
2016
20
Successful Immunosuppressive Treatment of Mixed Connective Tissue Disease Complicated by Microscopic Polyangiitis. ( 27238624 )
2016
21
Adhesive arachnoiditis in mixed connective tissue disease: a rare neurological manifestation. ( 27986694 )
2016
22
Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study. ( 26677987 )
2016
23
A case of mixed connective tissue disease. ( 27728674 )
2016
24
Clinical association of mixed connective tissue disease and granulomatosis with polyangiitis: a case report and systematic screening of anti-U1RNP and anti-PR3 auto-antibody double positivity in ten European hospitals. ( 27618831 )
2016
25
Long-term outcome in juvenile-onset mixed connective tissue disease: a nationwide Norwegian study. ( 27283334 )
2016
26
Posterior reversible encephalopathy syndrome in a patient with mixed connective tissue disease: a case report. ( 27250498 )
2016
27
Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study. ( 26946215 )
2016
28
Intravenous Immunoglobulin for Mixed Connective Tissue Disease Presenting With Bilateral Trigeminal Neuropathy. ( 28079540 )
2016
29
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. ( 26818120 )
2016
30
Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology. ( 27311225 )
2016
31
Immunity and early atherosclerosis in the course of systemic lupus erythematosus, mixed connective tissue disease and antiphospholipid syndrome. ( 27826173 )
2016
32
Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children. ( 27738519 )
2016
33
Mixed connective tissue disease with bilateral erythematous palpebral oedema and targetoid skin lesions. ( 27694069 )
2016
34
Prevalence of mixed connective tissue disease in a population-based registry of American Indian/Alaska Native people in 2007. ( 27788293 )
2016
35
Mixed connective tissue disease. ( 27421219 )
2016
36
Ortner's syndrome caused by pulmonary arterial hypertension associated with mixed connective tissue disease. ( 27463267 )
2016
37
Associations between anti-Ro52 antibodies and lung fibrosis in mixed connective tissue disease. ( 26320136 )
2015
38
Pulmonary Manifestations of SjAPgren Syndrome, Systemic Lupus Erythematosus, and Mixed Connective Tissue Disease. ( 25836642 )
2015
39
Mixed Connective Tissue Disease in a Patient With Castleman Disease and Hodgkin Lymphoma: Excellent Clinical Response to Rituximab. ( 26232308 )
2015
40
A case of mixed connective tissue disease with pseudo-pseudo Meigs' syndrome (PPMS)-like features. ( 26377236 )
2015
41
Imaging Patterns of Cardiovascular Involvement in Mixed Connective Tissue Disease Evaluated by Cardiovascular Magnetic Resonance. ( 26728774 )
2015
42
Cardiac tamponade in a patient with mixed connective tissue disease. ( 25539437 )
2015
43
Pulmonary involvement in long-term mixed connective tissue disease: functional trends and image findings after 10 years. ( 25896472 )
2015
44
Barriers and facilitators for mental healthcare in pediatric lupus and mixed connective tissue disease: a qualitative study of youth and parent perspectives. ( 26597484 )
2015
45
Associations between circulating endostatin levels and vascular organ damage in systemic sclerosis and mixed connective tissue disease: an observational study. ( 26315510 )
2015
46
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. ( 26549783 )
2015
47
Tumoral calcinosis associated with mixed connective tissue disease. ( 25454321 )
2015
48
Mycobacterium chelonae cutaneous infection in a patient with mixed connective tissue disease. ( 25672306 )
2015
49
Development of mixed connective tissue disease and SjAPgren's syndrome in a patient with trisomy X. ( 25854827 )
2015
50
Tetramers reveal IL-17-secreting CD4+ T cells that are specific for U1-70 in lupus and mixed connective tissue disease. ( 25713364 )
2015

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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 ACVRL1 BMPR2 CD40LG IFNG IL10 IL6
2
Show member pathways
13.31 ACVRL1 BMPR2 CD40LG IL10 IL6 TNF
3
Show member pathways
13.26 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
4
Show member pathways
13.2 ACVRL1 BMPR2 CD40LG IL10 IL6 TNF
5
Show member pathways
12.55 CD40LG HLA-DRB1 IFNG IL10 TNF
6
Show member pathways
12.54 CD40LG HLA-DRB1 HSPD1 IFNG IL10 IL6
7
Show member pathways
12.5 IFNG IL10 IL6 TNF
8
Show member pathways
12.5 HLA-DRB1 IFNG IL10 IL6 TNF
9 12.48 CD40LG IFNG IL10 TNF
10
Show member pathways
12.45 IFNG IL10 IL6 TNF
11
Show member pathways
12.3 CD40LG IFNG IL10 IL6 TNF
12 12.1 HSPD1 IL10 IL6 TNF
13
Show member pathways
12.07 CD40LG HLA-DRB1 IFNG IL10 TNF
14
Show member pathways
12.06 IFNG IL10 IL6 TNF
15 12.01 BMPR2 IFNG TNF
16 11.94 IFNG IL6 TNF
17 11.91 IL10 IL6 TNF
18 11.9 IFNG IL10 IL6 TNF
19 11.89 HLA-DRB1 HSPD1 IFNG IL10 IL6 TNF
20
Show member pathways
11.84 IFNG IL10 IL6 TNF
21 11.83 HLA-DRB1 IL6 TNF
22 11.79 IFNG IL10 IL6 TNF
23 11.78 IFNG IL10 IL6
24 11.75 BMPR2 IFNG TNF
25 11.73 IFNG IL10 TNF
26 11.73 HLA-DRB1 IFNG IL6 TNF
27
Show member pathways
11.7 CD40LG IFNG TNF
28 11.69 IL10 IL6 TNF
29 11.63 IFNG IL10 IL6 TNF
30 11.55 CD40LG IL10 IL6 TNF
31 11.54 HSPD1 IL6 TNF
32 11.51 IFNG IL6 TNF
33 11.48 IL10 IL6 TNF
34
Show member pathways
11.47 CD40LG IFNG IL6 TNF
35 11.43 IFNG IL6 TNF
36
Show member pathways
11.32 IFNG IL10 TNF
37 11.3 IL10 IL6 TNF
38 11.24 IFNG IL6 TNF
39 11.17 IFNG IL10 IL6 TNF
40 11.15 CD40LG IL10 IL6 TNF
41 11.04 CD40LG IFNG IL10 IL6 TNF
42 10.96 IL6 TNF
43 10.93 CD40LG HSPG2 IL10 IL6 TNF
44 10.5 HLA-DRB1 IFNG IL10 IL6 TNF

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 space GO:0005615 9.61 ADAMTS13 BMPR2 CD40LG HSPD1 HSPG2 IFNG
2 cell surface GO:0009986 9.17 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DRB1 HSPD1

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 regulation of receptor activity GO:0010469 9.91 CD40LG IFNG IL10 IL6 TNF
2 inflammatory response GO:0006954 9.85 CD40LG HSPG2 IL10 IL6 TNF
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.83 CD40LG IL6 TNF
4 platelet activation GO:0030168 9.81 ADAMTS13 CD40LG IL6
5 positive regulation of DNA binding transcription factor activity GO:0051091 9.8 IL10 IL6 TNF
6 positive regulation of endothelial cell proliferation GO:0001938 9.75 ACVRL1 BMPR2 IL10
7 response to glucocorticoid GO:0051384 9.74 IL10 IL6 TNF
8 humoral immune response GO:0006959 9.71 IFNG IL6 TNF
9 positive regulation of interleukin-6 production GO:0032755 9.67 HSPD1 IL6 TNF
10 positive regulation of osteoclast differentiation GO:0045672 9.66 IFNG TNF
11 positive regulation of chemokine production GO:0032722 9.65 IL6 TNF
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.65 ACVRL1 BMPR2
13 activin receptor signaling pathway GO:0032924 9.65 ACVRL1 BMPR2
14 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.64 IFNG TNF
15 positive regulation of macrophage activation GO:0043032 9.64 HSPD1 IL10
16 negative regulation of growth of symbiont in host GO:0044130 9.63 IL10 TNF
17 negative regulation of DNA biosynthetic process GO:2000279 9.62 ACVRL1 BMPR2
18 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.61 IL10 TNF
19 lymphangiogenesis GO:0001946 9.61 ACVRL1 BMPR2
20 retina vasculature development in camera-type eye GO:0061298 9.6 ACVRL1 BMPR2
21 negative regulation of lipid storage GO:0010888 9.59 IL6 TNF
22 artery development GO:0060840 9.58 ACVRL1 BMPR2
23 lymphatic endothelial cell differentiation GO:0060836 9.56 ACVRL1 BMPR2
24 cellular response to lipopolysaccharide GO:0071222 9.56 ADAMTS13 IL10 IL6 TNF
25 negative regulation of cytokine secretion involved in immune response GO:0002740 9.55 IL10 TNF
26 B cell proliferation GO:0042100 9.54 CD40LG HSPD1 IL10
27 regulation of immunoglobulin secretion GO:0051023 9.52 CD40LG TNF
28 venous blood vessel development GO:0060841 9.48 ACVRL1 BMPR2
29 receptor biosynthetic process GO:0032800 9.43 IL10 TNF
30 immune response GO:0006955 9.43 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
31 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.4 IFNG TNF
32 positive regulation of interleukin-12 production GO:0032735 9.33 CD40LG HSPD1 IFNG
33 positive regulation of vitamin D biosynthetic process GO:0060557 9.32 IFNG TNF
34 endothelial cell apoptotic process GO:0072577 8.8 BMPR2 IL10 TNF

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

# Name GO ID Score Top Affiliating Genes
1 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.26 ACVRL1 BMPR2
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
3 cytokine activity GO:0005125 9.02 CD40LG IFNG IL10 IL6 TNF
4 BMP receptor activity GO:0098821 8.96 ACVRL1 BMPR2

Sources for Mixed Connective Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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