MCID: MXD005
MIFTS: 61

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 50 56 52 42 14 69
Sharp Syndrome 50 56
Mctd 50 56
Connective Tissue Disease Overlap Syndrome 12
Mixed Collagen Vascular Disease 12

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 lung disease and myelitis, 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 skin, lung and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

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 In medicine, mixed connective tissue disease (also known as Sharp\'s syndrome), commonly abbreviated as... 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 373)
id Related Disease Score Top Affiliating Genes
1 lung disease 30.6 CD40LG TNF
2 myelitis 29.9 IFNG IL10 IL6
3 calcinosis 29.7 CD40LG IL6 TNF
4 hepatitis b 29.5 IFNG IL10 TNF
5 hemophagocytic lymphohistiocytosis 29.2 IFNG IL10 IL6 TNF
6 atherosclerosis 29.2 HLA-DRB1 IFNG IL10 IL6 TNF
7 rheumatoid arthritis 28.8 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
8 lymphoma 28.5 CD40LG IFNG IL10 IL6 SNRNP70 TNF
9 systemic lupus erythematosus 27.5 ADAMTS13 CD40LG HLA-DRB1 IFNG IL10 IL6
10 connective tissue disease 11.0
11 pure autonomic failure 10.8 IL10 TNF
12 acute ackee fruit intoxication 10.7 IL10 TNF
13 biemond syndrome 10.7 HLA-DRB1 TNF
14 migraine with brainstem aura 10.7 HLA-DRB1 TNF
15 smarca4-deficient sarcoma of thorax 10.7 IL6 TNF
16 multiple familial trichoepithelioma 10.7 IL10 TNF
17 basidiobolomycosis 10.7 IL10 TNF
18 lagophthalmos 10.7 IL10 TNF
19 type 1 papillary adenoma of the kidney 10.7 IL10 TNF
20 aortic arch interruption 10.7 IL6 TNF
21 cutaneous leishmaniasis 10.7 IL6 TNF
22 peroneal nerve paralysis 10.7 IL10 IL6
23 drug rash with eosinophilia and systemic symptoms 10.6 IL10 IL6
24 autoimmune retinopathy 10.6 HLA-DRB1 TNF
25 endosalpingiosis 10.6 IL10 TNF
26 spirillary rat-bite fever 10.6 IL6 TNF
27 toxoplasmosis 10.6 IL6 TNF
28 pulmonary venoocclusive disease 1 10.6 ACVRL1 BMPR2
29 dyslexia 5 10.6 IL6 TNF
30 homocystinuria caused by cystathionine beta-synthase deficiency 10.5 ACVRL1 BMPR2
31 balkan hemorrhagic fever 10.5 CD40LG IL10
32 idiopathic dilatation of the pulmonary artery 10.5 IL10 TNF
33 moderately severe hemophilia b 10.5 HLA-DRB1 IL10 TNF
34 pericardium disease 10.5 HLA-DRB1 IL10 TNF
35 scrotal carcinoma 10.5 IL6 TNF
36 epstein-barr virus hepatitis 10.5 HLA-DRB1 IL6 TNF
37 anencephaly and spina bifida x-linked 10.5 HLA-DRB1 IL6 TNF
38 antigen-peptide-transporter 2 deficiency 10.5 IL6 TNF
39 diabetic angiopathy 10.5 CD40LG IL10
40 hidradenitis suppurativa 10.5 HSPD1 IL10
41 ethmoid sinus adenocarcinoma 10.5 IL10 IL6 TNF
42 infancy electroclinical syndrome 10.5 IL10 IL6
43 rickettsialpox 10.4 CD40LG TNF
44 tricho onychic dysplasia 10.4 IL10 IL6 TNF
45 phlyctenulosis 10.4 IL10 IL6 TNF
46 primary biliary cirrhosis 10.4 IL10 IL6 TNF
47 lupus erythematosus 10.4
48 ulcerative colitis 10.4 IL10 IL6 TNF
49 ovarian mucinous adenofibroma 10.4 IL10 IL6 TNF
50 noma 10.4 IL10 IL6 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:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000112
2 xerostomia 56 32 frequent (33%) Frequent (79-30%) HP:0000217
3 psychosis 56 32 frequent (33%) Frequent (79-30%) HP:0000709
4 purpura 56 32 occasional (7.5%) Occasional (29-5%) HP:0000979
5 skin rash 56 32 hallmark (90%) Very frequent (99-80%) HP:0000988
6 keratoconjunctivitis sicca 56 32 frequent (33%) Frequent (79-30%) HP:0001097
7 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 meningitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001287
9 arthritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001369
10 joint swelling 56 32 frequent (33%) Frequent (79-30%) HP:0001386
11 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
12 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
13 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
14 hemolytic anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001878
15 pericarditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001701
16 leukopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001882
17 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
18 gastroesophageal reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0002020
19 dyspnea 56 32 hallmark (90%) Very frequent (99-80%) HP:0002094
20 pleuritis 56 32 frequent (33%) Frequent (79-30%) HP:0002102
21 pulmonary fibrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002206
22 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
23 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
24 osteolysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002797
25 arthralgia 56 32 frequent (33%) Frequent (79-30%) HP:0002829
26 autoimmunity 56 32 hallmark (90%) Very frequent (99-80%) HP:0002960
27 prolonged bleeding time 56 32 occasional (7.5%) Occasional (29-5%) HP:0003010
28 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
29 elevated erythrocyte sedimentation rate 56 32 hallmark (90%) Very frequent (99-80%) HP:0003565
30 gastritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005263
31 peripheral neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009830
32 aseptic necrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010885
33 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
34 myocarditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012819
35 scleroderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0100324
36 myositis 56 32 frequent (33%) Frequent (79-30%) HP:0100614
37 mediastinal lymphadenopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0100721
38 chest pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0100749
39 pulmonary hypertension 56 Occasional (29-5%)
40 lymphadenopathy 56 Occasional (29-5%)
41 interstitial pulmonary disease 56 Occasional (29-5%)
42 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
43 interstitial pulmonary abnormality 32 occasional (7.5%) HP:0006530

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 IFNG IL10 IL6 TNF ACVRL1 BMPR2
2 hematopoietic system MP:0005397 10.06 ACVRL1 ADAMTS13 BMPR2 CD40LG HSPG2 IFNG
3 mortality/aging MP:0010768 10.02 ACVRL1 ADAMTS13 BMPR2 CD40LG HSPD1 HSPG2
4 embryo MP:0005380 9.98 ACVRL1 BMPR2 HSPD1 HSPG2 IFNG IL10
5 digestive/alimentary MP:0005381 9.93 ACVRL1 HSPG2 IFNG IL10 IL6 TNF
6 muscle MP:0005369 9.86 ACVRL1 BMPR2 HSPD1 HSPG2 IFNG IL10
7 liver/biliary system MP:0005370 9.85 ACVRL1 HSPG2 IFNG IL10 IL6 TNF
8 nervous system MP:0003631 9.81 ACVRL1 BMPR2 CD40LG HSPD1 HSPG2 IFNG
9 respiratory system MP:0005388 9.5 ACVRL1 BMPR2 HSPG2 IFNG IL10 IL6
10 skeleton MP:0005390 9.17 HSPG2 IFNG IL10 IL6 TNF BMPR2

Drugs & Therapeutics for Mixed Connective Tissue Disease

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

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved 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 Anti-Infective Agents Phase 2, Phase 3
20 Antiviral Agents Phase 2, Phase 3
21 Bone Density Conservation Agents Phase 2, Phase 3
22 glucocorticoids Phase 2, Phase 3
23 Alkylating Agents Phase 2, Phase 3
24 Antirheumatic Agents Phase 2, Phase 3
25 Immunosuppressive Agents Phase 2, Phase 3
26 Antidotes Phase 2, Phase 3
27 Antioxidants Phase 2, Phase 3
28 Expectorants Phase 2, Phase 3
29 N-monoacetylcystine Phase 2, Phase 3
30 Acyclovir
31 Antibodies
32 Autoantibodies
33 Immunoglobulins

Interventional clinical trials:

(show all 15)

id 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 A Pilot Study to Evaluate Topical Sodium Thiosulfate Therapy for Calcinosis Cutis Withdrawn NCT01918904 Phase 2 Sodium thiosulfate;Placebo
7 Safety and Efficacy of Adipose Derived Stem Cells in Refractory Rheumatoid Arthritis, Systemic Lupus Erythematosus or Sharp's Syndrome Terminated NCT02741362 Phase 1
8 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
9 A Study to Compare Two Techniques for Articular Cartilage Repair:ACIC Vs. MCIC Unknown status NCT01984450
10 Auto-immunity and Pulmonary Arterial Hypertension Completed NCT01208792
11 CLUE Study: Connective Tissue Disease Leg Ulcer Etiology Study Completed NCT00522002
12 The CARRA Registry Completed NCT01697254
13 Characteristics and Disease Progression of Mixed Connective Tissue Disease and Systemic Lupus Erythematosus Recruiting NCT00582881
14 Coronary Artery and Systemic Autoimmune Disease: Diagnostics and Treatment Recruiting NCT02510092
15 New Orleans Pulmonary Hypertension Biobank Not yet recruiting NCT03269630

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:

39
Skin, Lung, Heart, Kidney, Bone, T Cells, Endothelial

Publications for Mixed Connective Tissue Disease

Articles related to Mixed Connective Tissue Disease:

(show top 50) (show all 570)
id Title Authors Year
1
Major depression: An under reported neuropsychiatric manifestation of Mixed Connective Tissue Disease. ( 28753451 )
2017
2
Retinal Vasculitis and Choroidopathy in Pediatric-Onset Mixed Connective Tissue Disease. ( 28937479 )
2017
3
Successful treatment of Type B insulin resistance with mixed connective tissue disease by pulse glucocorticoids and cyclophosphamide. ( 28084020 )
2017
4
An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report. ( 28700492 )
2017
5
Protein-losing Gastroenteropathy Related to Mixed Connective Tissue Disease: A Case Report of a Successful Outcome and Literature Review. ( 28768981 )
2017
6
Facts and controversies in mixed connective tissue disease. ( 28864092 )
2017
7
Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study. ( 26946215 )
2016
8
Adhesive arachnoiditis in mixed connective tissue disease: a rare neurological manifestation. ( 27986694 )
2016
9
Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology. ( 27311225 )
2016
10
Immunity and early atherosclerosis in the course of systemic lupus erythematosus, mixed connective tissue disease and antiphospholipid syndrome. ( 27826173 )
2016
11
Mixed connective tissue disease. ( 27421219 )
2016
12
Pediatric Mixed Connective Tissue Disease. ( 27032791 )
2016
13
A case of mixed connective tissue disease. ( 27728674 )
2016
14
Intravenous Immunoglobulin for Mixed Connective Tissue Disease Presenting With Bilateral Trigeminal Neuropathy. ( 28079540 )
2016
15
The illness experience of youth with lupus/mixed connective tissue disease: a mixed methods analysis of patient and parent perspectives. ( 27125290 )
2016
16
Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children. ( 27738519 )
2016
17
Mixed connective tissue disease-enigma variations? ( 27436003 )
2016
18
Initial presentation and outcome of pediatric-onset mixed connective tissue disease: A French multicenter retrospective study. ( 26677987 )
2016
19
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. ( 26818120 )
2016
20
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
21
Mixed connective tissue disease with bilateral erythematous palpebral oedema and targetoid skin lesions. ( 27694069 )
2016
22
Successful Immunosuppressive Treatment of Mixed Connective Tissue Disease Complicated by Microscopic Polyangiitis. ( 27238624 )
2016
23
Prevalence of mixed connective tissue disease in a population-based registry of American Indian/Alaska Native people in 2007. ( 27788293 )
2016
24
Ortner's syndrome caused by pulmonary arterial hypertension associated with mixed connective tissue disease. ( 27463267 )
2016
25
Posterior reversible encephalopathy syndrome in a patient with mixed connective tissue disease: a case report. ( 27250498 )
2016
26
A case of idiopathic portal hypertension associated with nodular regenerative hyperplasia-like nodule of the liver and mixed connective tissue disease. ( 27151480 )
2016
27
Long-term outcome in juvenile-onset mixed connective tissue disease: a nationwide Norwegian study. ( 27283334 )
2016
28
Imaging Patterns of Cardiovascular Involvement in Mixed Connective Tissue Disease Evaluated by Cardiovascular Magnetic Resonance. ( 26728774 )
2015
29
Mixed Connective Tissue Disease in a Patient With Castleman Disease and Hodgkin Lymphoma: Excellent Clinical Response to Rituximab. ( 26232308 )
2015
30
A case of mixed connective tissue disease with pseudo-pseudo Meigs' syndrome (PPMS)-like features. ( 26377236 )
2015
31
Tumoral calcinosis associated with mixed connective tissue disease. ( 25454321 )
2015
32
Autoimmune hepatitis as a presenting manifestation of mixed connective tissue disease in a child. Case report and review of the literature. ( 26554821 )
2015
33
Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. ( 26549783 )
2015
34
Cardiac tamponade in a patient with mixed connective tissue disease. ( 25539437 )
2015
35
Pulmonary Manifestations of SjAPgren Syndrome, Systemic Lupus Erythematosus, and Mixed Connective Tissue Disease. ( 25836642 )
2015
36
Pulmonary involvement in long-term mixed connective tissue disease: functional trends and image findings after 10 years. ( 25896472 )
2015
37
Identifying Differences in Risk Factors for Depression and Anxiety in Pediatric Chronic Disease: A Matched Cross-Sectional Study of Youth with Lupus/Mixed Connective Tissue Disease and Their Peers with Diabetes. ( 26316371 )
2015
38
Tetramers reveal IL-17-secreting CD4+ T cells that are specific for U1-70 in lupus and mixed connective tissue disease. ( 25713364 )
2015
39
Life-threatening acute pneumonitis in mixed connective tissue disease: a case report and literature review. ( 26142172 )
2015
40
Development of mixed connective tissue disease and SjAPgren's syndrome in a patient with trisomy X. ( 25854827 )
2015
41
Melkersson-Rosenthal syndrome as an early manifestation of mixed connective tissue disease. ( 26698837 )
2015
42
Associations between circulating endostatin levels and vascular organ damage in systemic sclerosis and mixed connective tissue disease: an observational study. ( 26315510 )
2015
43
Associations between anti-Ro52 antibodies and lung fibrosis in mixed connective tissue disease. ( 26320136 )
2015
44
Mixed Connective Tissue Disease and Papillary Thyroid Cancer: A Case Report. ( 26245523 )
2015
45
Barriers and facilitators for mental healthcare in pediatric lupus and mixed connective tissue disease: a qualitative study of youth and parent perspectives. ( 26597484 )
2015
46
Mycobacterium chelonae cutaneous infection in a patient with mixed connective tissue disease. ( 25672306 )
2015
47
A Rare Case of Mixed Connective Tissue Disease (MCTD) with Intricate Features of Lupus, Polymyositis and Rheumatoid Arthritis Presenting with Severe Myositis. ( 25954655 )
2015
48
Performance of the 2013 American College of Rheumatology/European League Against Rheumatism Classification Criteria for Systemic Sclerosis (SSc) in Large, Well-defined Cohorts of SSc and Mixed Connective Tissue Disease. ( 25274890 )
2014
49
Recurrent pneumothoraces in a 17-year-old man with mixed connective tissue disease. ( 24430177 )
2014
50
Increased levels of anti-heat-shock protein 60 (anti-Hsp60) indicate endothelial dysfunction, atherosclerosis and cardiovascular diseases in patients with mixed connective tissue disease. ( 24838263 )
2014

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 42)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 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
13.19 ACVRL1 BMPR2 CD40LG IL10 IL6 TNF
5
Show member pathways
12.61 CD40LG HLA-DRB1 HSPD1 IFNG IL10 IL6
6
Show member pathways
12.55 CD40LG HLA-DRB1 IFNG IL10 TNF
7
Show member pathways
12.5 IFNG IL10 IL6 TNF
8
Show member pathways
12.5 HLA-DRB1 IFNG IL10 IL6 TNF
9 12.46 CD40LG IFNG IL10 TNF
10
Show member pathways
12.3 CD40LG IFNG IL10 IL6 TNF
11 12.1 HSPD1 IL10 IL6 TNF
12
Show member pathways
12.07 CD40LG HLA-DRB1 IFNG IL10 TNF
13
Show member pathways
12.06 IFNG IL10 IL6 TNF
14 12 BMPR2 IFNG TNF
15 11.93 IFNG IL6 TNF
16 11.91 IFNG IL10 IL6 TNF
17 11.9 IL10 IL6 TNF
18 11.89 HLA-DRB1 HSPD1 IFNG IL10 IL6 TNF
19
Show member pathways
11.85 IFNG IL10 IL6 TNF
20 11.82 HLA-DRB1 IL6 TNF
21 11.81 IFNG IL10 IL6
22 11.79 IFNG IL10 IL6 TNF
23 11.75 BMPR2 IFNG TNF
24 11.73 HLA-DRB1 IFNG IL6 TNF
25 11.72 IFNG IL10 TNF
26
Show member pathways
11.69 CD40LG IFNG TNF
27 11.69 IL10 IL6 TNF
28 11.64 IFNG IL10 IL6 TNF
29 11.58 CD40LG IL10 IL6 TNF
30 11.54 HSPD1 IL6 TNF
31 11.51 IFNG IL6 TNF
32 11.48 IL10 IL6 TNF
33
Show member pathways
11.47 CD40LG IFNG IL6 TNF
34 11.43 IFNG IL6 TNF
35
Show member pathways
11.36 IFNG IL10 TNF
36 11.3 IL10 IL6 TNF
37 11.24 IFNG IL6 TNF
38 11.15 CD40LG IL10 IL6 TNF
39 11.1 IFNG IL10 IL6 TNF
40 11.04 CD40LG IFNG IL10 IL6 TNF
41 10.96 IL6 TNF
42 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.61 ADAMTS13 BMPR2 CD40LG HSPD1 HSPG2 IFNG
2 external side of plasma membrane GO:0009897 9.55 CD40LG HLA-DRB1 IFNG IL6 TNF
3 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 46)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.98 HSPD1 IFNG IL6 TNF
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.87 CD40LG IL6 TNF
3 cellular response to tumor necrosis factor GO:0071356 9.86 ADAMTS13 IL6 SNRNP70
4 platelet activation GO:0030168 9.85 ADAMTS13 CD40LG IL6
5 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.85 IL10 IL6 TNF
6 inflammatory response GO:0006954 9.81 CD40LG IL10 IL6 TNF
7 response to glucocorticoid GO:0051384 9.79 IL10 IL6 TNF
8 positive regulation of endothelial cell proliferation GO:0001938 9.78 ACVRL1 BMPR2 IL10
9 positive regulation of T cell proliferation GO:0042102 9.77 CD40LG IFNG IL6
10 humoral immune response GO:0006959 9.74 IFNG IL6 TNF
11 immune response GO:0006955 9.73 CD40LG HLA-DRB1 IFNG IL10 IL6 TNF
12 positive regulation of interleukin-6 production GO:0032755 9.72 HSPD1 IL6 TNF
13 positive regulation of osteoclast differentiation GO:0045672 9.7 IFNG TNF
14 positive regulation of nitric oxide biosynthetic process GO:0045429 9.7 IFNG IL6 TNF
15 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.69 ACVRL1 BMPR2
16 positive regulation of chemokine production GO:0032722 9.69 IL6 TNF
17 activin receptor signaling pathway GO:0032924 9.68 ACVRL1 BMPR2
18 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.68 IFNG TNF
19 positive regulation of macrophage activation GO:0043032 9.68 HSPD1 IL10
20 cellular response to hepatocyte growth factor stimulus GO:0035729 9.67 IL10 IL6
21 negative regulation of DNA biosynthetic process GO:2000279 9.66 ACVRL1 BMPR2
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.66 IL10 TNF
23 lymphangiogenesis GO:0001946 9.65 ACVRL1 BMPR2
24 positive regulation of protein import into nucleus, translocation GO:0033160 9.65 IFNG IL6
25 positive regulation of chemokine biosynthetic process GO:0045080 9.65 IFNG TNF
26 negative regulation of lipid storage GO:0010888 9.63 IL6 TNF
27 artery development GO:0060840 9.63 ACVRL1 BMPR2
28 retina vasculature development in camera-type eye GO:0061298 9.62 ACVRL1 BMPR2
29 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IFNG IL10
30 B cell proliferation GO:0042100 9.61 CD40LG HSPD1 IL10
31 lymphatic endothelial cell differentiation GO:0060836 9.59 ACVRL1 BMPR2
32 negative regulation of cytokine secretion involved in immune response GO:0002740 9.58 IL10 TNF
33 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.58 IL6 TNF
34 regulation of immunoglobulin secretion GO:0051023 9.56 CD40LG TNF
35 venous blood vessel development GO:0060841 9.54 ACVRL1 BMPR2
36 positive regulation of interleukin-12 production GO:0032735 9.54 CD40LG HSPD1 IFNG
37 defense response to protozoan GO:0042832 9.5 IFNG IL10 IL6
38 receptor biosynthetic process GO:0032800 9.49 IL10 TNF
39 neutrophil apoptotic process GO:0001781 9.48 IFNG IL6
40 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.46 IFNG TNF
41 positive regulation of vitamin D biosynthetic process GO:0060557 9.4 IFNG TNF
42 negative regulation of growth of symbiont in host GO:0044130 9.33 IFNG IL10 TNF
43 endothelial cell apoptotic process GO:0072577 9.13 BMPR2 IL10 TNF
44 cellular response to lipopolysaccharide GO:0071222 9.02 ADAMTS13 IFNG IL10 IL6 TNF
45 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.11 ACVRL1 BMPR2 IFNG IL10 IL6 TNF
46 positive regulation of transcription, DNA-templated GO:0045893 10.04 ACVRL1 IFNG IL10 IL6 TNF

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

id 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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