MCID: MXD005
MIFTS: 65

Mixed Connective Tissue Disease

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

Aliases & Classifications for Mixed Connective Tissue Disease

MalaCards integrated aliases for Mixed Connective Tissue Disease:

Name: Mixed Connective Tissue Disease 12 76 53 59 37 55 44 15 73
Sharp Syndrome 53 59
Mctd 53 59
Connective Tissue Disease Overlap Syndrome 12
Mixed Collagen Vascular Disease 12

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

MalaCards based summary : Mixed Connective Tissue Disease, also known as sharp syndrome, is related to pulmonary hypertension, primary, 1 and transverse myelitis. 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 nephropathy and xerostomia

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 : 76 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 404)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 31.2 ACVRL1 BMPR2
2 transverse myelitis 30.5 IL10 IL6 TNF
3 microscopic polyangiitis 30.4 HLA-DRB1 IL10 TNF
4 anca-associated vasculitis 30.3 HLA-DRB1 IL6 TNF
5 aseptic meningitis 30.3 IFNG IL10 TNF
6 spondylitis 30.2 CD40LG IL6 TNF
7 myocarditis 30.1 CD40LG IL6 TNF
8 lymphadenitis 30.0 IFNG IL10 TNF
9 pulmonary venoocclusive disease 30.0 ACVRL1 BMPR2
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 HSPD1 IFNG IL10
11 pneumonia 29.8 CD40LG IL10 IL6 TNF
12 interstitial lung disease 29.8 IFNG IL10 IL6 TNF
13 myasthenia gravis 29.6 IFNG IL10 TNF
14 visceral leishmaniasis 29.6 IFNG IL10 TNF
15 purpura 29.6 ADAMTS13 CD40LG TNF
16 hemophagocytic lymphohistiocytosis 29.5 IFNG IL10 TNF
17 arthritis 29.5 HLA-DRB1 IFNG IL10 IL6 TNF
18 spondyloarthropathy 29.4 IFNG IL10 IL6 TNF
19 wegener granulomatosis 29.4 IFNG IL10 IL6 TNF
20 leishmaniasis 29.3 HLA-DRB1 IFNG IL10 TNF
21 meningitis 28.9 CD40LG IFNG IL10 IL6 TNF
22 psoriasis 28.9 IFNG IL10 IL6 TNF
23 vascular disease 28.8 ACVRL1 BMPR2 HSPD1 IL6 TNF
24 rheumatoid arthritis 28.5 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
25 diabetes mellitus 28.3 HLA-DRB1 HSPD1 IFNG IL6 TNF
26 rheumatic disease 28.0 CD40LG HLA-DRB1 IFNG IL10 RNPC3 TNF
27 autoimmune disease 27.3 CD40LG HLA-DRB1 HSPD1 IFNG IL10 IL6
28 systemic lupus erythematosus 27.0 ADAMTS13 CD40LG HLA-DRB1 IFNG IL10 IL6
29 connective tissue disease 25.3 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DRB1 HSPD1
30 juvenile myasthenia gravis 10.9 HLA-DRB1 IL10
31 punctate inner choroidopathy 10.8 IL10 TNF
32 tropical endomyocardial fibrosis 10.8 IL10 TNF
33 beryllium disease 10.8 HLA-DRB1 TNF
34 scorpion envenomation 10.8 IL6 TNF
35 multifocal choroiditis 10.8 IL10 TNF
36 tungiasis 10.8 IL10 TNF
37 endomyocardial fibrosis 10.8 IL10 TNF
38 transient hypogammaglobulinemia 10.7 IL10 TNF
39 leukomalacia 10.7 IL6 TNF
40 angioimmunoblastic lymphadenopathy with dysproteinemia 10.7 IL6 TNF
41 eye lymphoma 10.7 IL10 IL6
42 autoimmune pancreatitis 10.7 HLA-DRB1 TNF
43 acute transverse myelitis 10.7 IL10 IL6
44 critical limb ischemia 10.7 IL6 TNF
45 streptococcal toxic-shock syndrome 10.7 IL6 TNF
46 null-cell leukemia 10.6 IL6 TNF
47 choroiditis 10.6 IL10 TNF
48 lichen sclerosus 10.6 HLA-DRB1 TNF
49 retinitis pigmentosa 55 10.6 IL6 TNF
50 idiopathic achalasia 10.6 IL10 TNF

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:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
2 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
3 psychosis 59 32 frequent (33%) Frequent (79-30%) HP:0000709
4 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
5 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
6 keratoconjunctivitis sicca 59 32 frequent (33%) Frequent (79-30%) HP:0001097
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
9 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
10 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
11 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
12 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
13 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
14 hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001878
15 pericarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001701
16 leukopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001882
17 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
18 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
19 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
20 dyspnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002094
21 pleuritis 59 32 frequent (33%) Frequent (79-30%) HP:0002102
22 pulmonary fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002206
23 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
24 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
25 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
26 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
27 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
28 prolonged bleeding time 59 32 occasional (7.5%) Occasional (29-5%) HP:0003010
29 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
30 elevated erythrocyte sedimentation rate 59 32 hallmark (90%) Very frequent (99-80%) HP:0003565
31 gastritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005263
32 interstitial pulmonary abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0006530
33 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
34 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
35 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
36 myocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012819
37 scleroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100324
38 myositis 59 32 frequent (33%) Frequent (79-30%) HP:0100614
39 mediastinal lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100721
40 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
41 lymphadenopathy 59 Occasional (29-5%)

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

26 (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 BMPR2 HLA-DRB1 IL10
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 CD40LG IL10 HSPG2 ACVRL1 IFNG BMPR2
2 hematopoietic system MP:0005397 10.06 CD40LG IL10 HSPG2 ACVRL1 ADAMTS13 IFNG
3 mortality/aging MP:0010768 10.02 BMPR2 CD40LG IL10 HSPD1 HSPG2 ACVRL1
4 embryo MP:0005380 9.98 BMPR2 IL10 HSPD1 HSPG2 ACVRL1 IFNG
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 CD40LG IL10 HSPD1 HSPG2 ACVRL1 IFNG
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 33)
# 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antidotes Phase 2, Phase 3
26 Anti-Infective Agents Phase 2, Phase 3
27 Antioxidants Phase 2, Phase 3
28 Antiviral Agents Phase 2, Phase 3
29 Expectorants Phase 2, Phase 3
30 N-monoacetylcystine Phase 2, Phase 3
31 Antibodies Not Applicable
32 Autoantibodies Not Applicable
33 Immunoglobulins Not Applicable

Interventional clinical trials:

(show all 16)
# 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 Not Applicable
8 Auto-immunity and Pulmonary Arterial Hypertension Completed NCT01208792 Not Applicable
9 CLUE Study: Connective Tissue Disease Leg Ulcer Etiology Study Completed NCT00522002
10 The CARRA Registry Completed NCT01697254
11 Descriptive, Post-marketing, Passive Surveillance Safety Study of ADACEL™ Vaccine Completed NCT00258882
12 Characteristics and Disease Progression of Mixed Connective Tissue Disease and Systemic Lupus Erythematosus Recruiting NCT00582881
13 New Orleans Pulmonary Hypertension Biobank Recruiting NCT03269630
14 Yellow Fever Vaccine in Patients With Rheumatic Diseases Recruiting NCT03430388 Not Applicable
15 Atherosclerosis in Juvenile Mixed Connective Tissue Disease (ACTID) Active, not recruiting NCT03581162
16 Coronary Artery and Systemic Autoimmune Disease: Diagnostics and Treatment Active, not recruiting NCT02510092 Not Applicable

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:

41
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 594)
# Title Authors Year
1
Facts in treatment of pulmonary arterial hypertension associated to mixed connective tissue disease. ( 29685309 )
2018
2
Progression and mortality of interstitial lung disease in mixed connective tissue disease: a long-term observational nationwide cohort study. ( 28379478 )
2018
3
Interstitial lung disease in patients with mixed connective tissue disease: pilot study on predictors of lung involvement. ( 29745875 )
2018
4
The impact of anti-U1-RNP positivity: systemic lupus erythematosus versus mixed connective tissue disease. ( 29796907 )
2018
5
Superior sagittal sinus thrombosis in a case of Mixed Connective Tissue Disease. ( 29848537 )
2018
6
Myocarditis in a girl with mixed connective tissue disease. ( 29624816 )
2018
7
Massive Hemorrhagic Pericardial Effusion With Cardiac Tamponade as Initial Manifestation of Mixed Connective Tissue Disease. ( 29479391 )
2018
8
Musculoskeletal Manifestations of Non-RA Connective Tissue Diseases: Scleroderma, Systemic Lupus Erythematosus, Still's Disease, Dermatomyositis/Polymyositis, SjAPgren's Syndrome, and Mixed Connective Tissue Disease. ( 29672805 )
2018
9
Advocating for early interstitial lung disease detection in mixed connective tissue disease. ( 28977485 )
2018
10
Lymphocytic interstitial pneumonia in a patient with mixed connective tissue disease - A case report. ( 29892541 )
2018
11
Following leads: connecting dysphagia to mixed connective tissue disease. ( 29507032 )
2018
12
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
13
An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report. ( 28700492 )
2017
14
Emergence of Smoldering ANCA-associated Glomerulonephritis During the Clinical Course of Mixed Connective Tissue Disease and SjAPgren's Syndrome. ( 29269683 )
2017
15
Treatment of Vasodilator-resistant Mixed Connective Tissue Disease-associated Pulmonary Arterial Hypertension with Glucocorticoid and Cyclophosphamide. ( 28202869 )
2017
16
Facts and controversies in mixed connective tissue disease. ( 28864092 )
2017
17
BentallA9s Procedure in Pediatric Mixed Connective Tissue Disease Syndrome: Management of Pediatric Aortic Aneurysm - A Brief Review. ( 29762936 )
2017
18
Successful treatment of Type B insulin resistance with mixed connective tissue disease by pulse glucocorticoids and cyclophosphamide. ( 28084020 )
2017
19
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
20
Protein-losing Gastroenteropathy Related to Mixed Connective Tissue Disease: A Case Report of a Successful Outcome and Literature Review. ( 28768981 )
2017
21
Pulmonary-Limited Granulomatosis with Polyangiitis Coexisting with Mixed Connective Tissue Disease. ( 28592713 )
2017
22
Retinal Vasculitis and Choroidopathy in Pediatric-Onset Mixed Connective Tissue Disease. ( 28937479 )
2017
23
Major depression: An under reported neuropsychiatric manifestation of Mixed Connective Tissue Disease. ( 28753451 )
2017
24
Mixed Connective Tissue Disease and Epitope Spreading: An Historical Cohort Study. ( 28248800 )
2017
25
Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study. ( 29268795 )
2017
26
Prevalence of mixed connective tissue disease in a population-based registry of American Indian/Alaska Native people in 2007. ( 27788293 )
2016
27
Immunity and early atherosclerosis in the course of systemic lupus erythematosus, mixed connective tissue disease and antiphospholipid syndrome. ( 27826173 )
2016
28
A case of mixed connective tissue disease. ( 27728674 )
2016
29
Intravenous Immunoglobulin for Mixed Connective Tissue Disease Presenting With Bilateral Trigeminal Neuropathy. ( 28079540 )
2016
30
Adhesive arachnoiditis in mixed connective tissue disease: a rare neurological manifestation. ( 27986694 )
2016
31
Mixed connective tissue disease with bilateral erythematous palpebral oedema and targetoid skin lesions. ( 27694069 )
2016
32
Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study. ( 26677987 )
2016
33
Mixed connective tissue disease-enigma variations? ( 27436003 )
2016
34
Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children. ( 27738519 )
2016
35
The illness experience of youth with lupus/mixed connective tissue disease: a mixed methods analysis of patient and parent perspectives. ( 27125290 )
2016
36
Mixed connective tissue disease. ( 27421219 )
2016
37
A case of idiopathic portal hypertension associated with nodular regenerative hyperplasia-like nodule of the liver and mixed connective tissue disease. ( 27151480 )
2016
38
Long-term outcome in juvenile-onset mixed connective tissue disease: a nationwide Norwegian study. ( 27283334 )
2016
39
Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology. ( 27311225 )
2016
40
Posterior reversible encephalopathy syndrome in a patient with mixed connective tissue disease: a case report. ( 27250498 )
2016
41
Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study. ( 26946215 )
2016
42
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
43
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. ( 26818120 )
2016
44
Successful Immunosuppressive Treatment of Mixed Connective Tissue Disease Complicated by Microscopic Polyangiitis. ( 27238624 )
2016
45
Pediatric Mixed Connective Tissue Disease. ( 27032791 )
2016
46
Ortner's syndrome caused by pulmonary arterial hypertension associated with mixed connective tissue disease. ( 27463267 )
2016
47
Development of mixed connective tissue disease and SjAPgren's syndrome in a patient with trisomy X. ( 25854827 )
2015
48
Tetramers reveal IL-17-secreting CD4+ T cells that are specific for U1-70 in lupus and mixed connective tissue disease. ( 25713364 )
2015
49
Autoimmune hepatitis as a presenting manifestation of mixed connective tissue disease in a child. Case report and review of the literature. ( 26554821 )
2015
50
Cardiac tamponade in a patient with mixed connective tissue disease. ( 25539437 )
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 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 ACVRL1 BMPR2 CD40LG IFNG IL10 IL6
2
Show member pathways
13.29 ACVRL1 BMPR2 CD40LG IL10 IL6 TNF
3
Show member pathways
13.24 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
4
Show member pathways
13.17 ACVRL1 BMPR2 CD40LG IL10 IL6 TNF
5
Show member pathways
12.61 CD40LG HLA-DRB1 HSPD1 IFNG IL10 IL6
6
Show member pathways
12.53 IFNG IL10 IL6 TNF
7
Show member pathways
12.48 IFNG IL10 IL6 TNF
8 12.46 CD40LG IFNG IL10 TNF
9
Show member pathways
12.33 HLA-DRB1 IFNG IL10 IL6 TNF
10
Show member pathways
12.28 CD40LG IFNG IL10 IL6 TNF
11
Show member pathways
12.16 IFNG IL10 IL6 TNF
12 12.07 HSPD1 IL10 IL6 TNF
13
Show member pathways
12.07 CD40LG HLA-DRB1 IFNG IL10 TNF
14 11.99 BMPR2 IFNG TNF
15 11.91 IFNG IL6 TNF
16 11.89 IL10 IL6 TNF
17 11.89 IFNG IL10 IL6 TNF
18 11.89 HLA-DRB1 HSPD1 IFNG IL10 IL6 TNF
19 11.8 IFNG IL10 IL6
20 11.8 HLA-DRB1 IL6 TNF
21 11.78 IFNG IL10 IL6 TNF
22 11.72 BMPR2 IFNG TNF
23 11.71 HLA-DRB1 IFNG IL6 TNF
24 11.7 IFNG IL10 TNF
25
Show member pathways
11.67 CD40LG IFNG TNF
26 11.66 IL10 IL6 TNF
27 11.6 IFNG IL10 IL6 TNF
28 11.51 HSPD1 IL6 TNF
29 11.48 IFNG IL6 TNF
30
Show member pathways
11.47 CD40LG IFNG IL6 TNF
31 11.44 IL10 IL6 TNF
32 11.4 IFNG IL6 TNF
33 11.27 IL10 IL6 TNF
34 11.22 IFNG IL6 TNF
35 11.1 IFNG IL10 IL6 TNF
36 11.04 CD40LG IFNG IL10 IL6 TNF
37 11.02 IL6 TNF
38 10.95 IL6 TNF
39 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 signaling receptor activity GO:0010469 9.89 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 9.69 HSPD1 IL6 TNF
10 cellular response to lipopolysaccharide GO:0071222 9.67 ADAMTS13 IL10 IL6 TNF
11 positive regulation of osteoclast differentiation GO:0045672 9.66 IFNG TNF
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.66 ACVRL1 BMPR2
13 positive regulation of chemokine production GO:0032722 9.65 IL6 TNF
14 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.65 IFNG TNF
15 activin receptor signaling pathway GO:0032924 9.64 ACVRL1 BMPR2
16 positive regulation of macrophage activation GO:0043032 9.64 HSPD1 IL10
17 negative regulation of growth of symbiont in host GO:0044130 9.63 IL10 TNF
18 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.62 IL10 TNF
19 lymphangiogenesis GO:0001946 9.61 ACVRL1 BMPR2
20 negative regulation of DNA biosynthetic process GO:2000279 9.61 ACVRL1 BMPR2
21 negative regulation of lipid storage GO:0010888 9.6 IL6 TNF
22 artery development GO:0060840 9.59 ACVRL1 BMPR2
23 retina vasculature development in camera-type eye GO:0061298 9.58 ACVRL1 BMPR2
24 negative regulation of cytokine secretion involved in immune response GO:0002740 9.56 IL10 TNF
25 lymphatic endothelial cell differentiation GO:0060836 9.55 ACVRL1 BMPR2
26 regulation of immunoglobulin secretion GO:0051023 9.52 CD40LG TNF
27 B cell proliferation GO:0042100 9.5 CD40LG HSPD1 IL10
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 9.26 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 protein binding GO:0005515 9.97 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DRB1 HSPD1
2 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.32 ACVRL1 BMPR2
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 ACVRL1 BMPR2
4 cytokine activity GO:0005125 9.02 CD40LG IFNG IL10 IL6 TNF
5 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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