Aliases & Classifications for Connective Tissue Disease

MalaCards integrated aliases for Connective Tissue Disease:

Name: Connective Tissue Disease 12 15
Connective Tissue Diseases 55 44 73
Abnormality of Connective Tissue 29 6
Connective Tissue Disorder 12 6
Disorder of Connective Tissue 12
Connective Tissue Disorders 43

External Ids:

Disease Ontology 12 DOID:65
MeSH 44 D003240
NCIt 50 C26729
UMLS 73 C0009782

Summaries for Connective Tissue Disease

MedlinePlus : 43 Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts their shape and helps keep them strong. It also helps some of your tissues do their work. It is made of many kinds of proteins. Cartilage and fat are types of connective tissue. Over 200 disorders that impact connective tissue. There are different types: Genetic disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta Autoimmune disorders, such as lupus and scleroderma Cancers, like some types of soft tissue sarcoma Each disorder has its own symptoms and needs different treatment. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Connective Tissue Disease, also known as connective tissue diseases, is related to mixed connective tissue disease and pulmonary hypertension, primary, 1, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Connective Tissue Disease is ACTA2 (Actin, Alpha 2, Smooth Muscle, Aorta), and among its related pathways/superpathways are ERK Signaling and Akt Signaling. The drugs Nandrolone decanoate and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are cardiovascular system and mortality/aging

Disease Ontology : 12 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.

Wikipedia : 76 A connective tissue disease is any disease that has the connective tissues of the body as a target of... more...

Related Diseases for Connective Tissue Disease

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

(show top 50) (show all 441)
# Related Disease Score Top Affiliating Genes
1 mixed connective tissue disease 34.9 ACVRL1 ADAMTS13 BMPR2 CD40LG HLA-DRB1 HSPD1
2 pulmonary hypertension, primary, 1 33.5 ACVRL1 BMPR2
3 aortic aneurysm, familial thoracic 1 32.7 ACTA2 COL3A1 FBN1
4 marfan syndrome 32.7 ACTA2 COL3A1 FBN1 FBN2
5 collagen disease 32.4 APOH CENPB COL3A1 COL5A1 FBN1 PLOD1
6 pneumonia 32.2 CD40LG IL10 IL6 TNF
7 lupus erythematosus 32.1 APOH CD40LG IL10 TNF
8 arthritis 32.1 HLA-DRB1 IL10 IL6 TNF
9 pulmonary hypertension 31.9 ACTA2 ACVRL1 BMPR2 EDNRA IL6
10 rheumatoid arthritis 31.9 CD40LG HLA-DRB1 IL10 IL6 TNF TNFSF13B
11 vasculitis 31.8 APOH CD40LG TNF TNFSF13B
12 meningitis 31.8 CD40LG IL10 IL6 TNF
13 purpura 31.7 ADAMTS13 APOH CD40LG TNF
14 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.6 HSPD1 IL10 TNFSF13B
15 spondylitis 31.6 CD40LG IL6 TNF
16 systemic lupus erythematosus 31.6 ADAMTS13 APOH CD40LG HLA-DRB1 IL10 IL6
17 neuromyelitis optica 31.5 HLA-DRB1 IL6 TNFSF13B
18 portal hypertension 31.5 BMPR2 EDNRA TNF
19 spondyloarthropathy 31.5 IL10 IL6 TNF
20 listeriosis 31.5 IL10 IL6 TNF
21 myocarditis 31.4 CD40LG IL6 TNF
22 myelitis 31.3 APOH IL6 TNF
23 microscopic polyangiitis 31.3 HLA-DRB1 IL10 TNF
24 anca-associated vasculitis 31.3 HLA-DRB1 IL6 TNF
25 discoid lupus erythematosus 31.3 APOH HLA-DRB1 IL10
26 antiphospholipid syndrome 31.2 ADAMTS13 APOH CD40LG
27 myasthenia gravis 31.2 IL10 TNF TNFSF13B
28 interstitial lung disease 31.2 IL10 IL6 TNF
29 leishmaniasis 31.1 HLA-DRB1 IL10 TNF
30 helicobacter pylori infection 31.1 HLA-DRB1 IL10 TNF
31 transverse myelitis 31.1 APOH IL10 IL6 TNF
32 bronchiolitis 31.1 CD40LG IL10 IL6 TNF
33 juvenile rheumatoid arthritis 31.1 HLA-DRB1 IL6 TNF
34 rheumatic disease 31.0 APOH CD40LG CENPB HLA-DRB1 IL10 RNPC3
35 myeloma, multiple 31.0 CD40LG IL6 TNF TNFSF13B
36 vascular disease 30.9 ACVRL1 APOH BMPR2 HSPD1 IL6 TNF
37 multiple sclerosis 30.9 HLA-DRB1 IL10 IL6 TNF TNFSF13B
38 livedoid vasculopathy 30.9 APOH CD40LG
39 heritable pulmonary arterial hypertension 30.7 ACVRL1 BMPR2
40 aortic aneurysm 30.6 ACTA2 COL3A1 FBN1 FBN2
41 autoimmune disease 30.6 APOH CD40LG CENPB HLA-DRB1 HSPD1 IL10
42 orthostatic intolerance 30.6 FBN1 FBN2 PLOD1
43 aneurysm 30.5 ACTA2 COL3A1 FBN1 FBN2 PLOD1
44 undifferentiated connective tissue disease 12.5
45 emilin-1-related connective tissue disease 12.1
46 mass syndrome 11.8
47 bone fragility with contractures, arterial rupture, and deafness 11.7
48 marden-walker syndrome 11.6
49 punctate inner choroidopathy 11.4 IL10 TNF
50 nontuberculous mycobacterial lung disease 11.3 FBN1 HLA-DRB1 TNF

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



Diseases related to Connective Tissue Disease

Symptoms & Phenotypes for Connective Tissue Disease

UMLS symptoms related to Connective Tissue Disease:


back pain, muscle cramp, sciatica, musculoskeletal symptom, joint symptom

MGI Mouse Phenotypes related to Connective Tissue Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 CD40LG FBN1 COL3A1 ACTA2 ACVRL1 COL5A1
2 mortality/aging MP:0010768 10.22 CD40LG FBN1 CENPB COL3A1 ACVRL1 COL5A1
3 cellular MP:0005384 10.2 BMPR2 EDNRA CD40LG CENPB COL3A1 TNF
4 growth/size/body region MP:0005378 10.18 BMPR2 EDNRA CENPB COL3A1 ACVRL1 COL5A1
5 embryo MP:0005380 10.03 BMPR2 EDNRA ACVRL1 COL5A1 TNF IL10
6 muscle MP:0005369 10.03 FBN1 COL3A1 ACTA2 ACVRL1 BMPR2 EDNRA
7 integument MP:0010771 10.02 EDNRA CD40LG FBN1 COL3A1 COL5A1 TNF
8 respiratory system MP:0005388 9.81 FBN1 COL3A1 ACVRL1 BMPR2 EDNRA IL10
9 skeleton MP:0005390 9.61 BMPR2 EDNRA CD40LG TNF IL10 FBN1
10 vision/eye MP:0005391 9.23 EDNRA ACTA2 ADAMTS13 COL5A1 TNF IL10

Drugs & Therapeutics for Connective Tissue Disease

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

(show top 50) (show all 877)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
2
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
3
Anastrozole Approved, Investigational Phase 4,Phase 3 120511-73-1 2187
4
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 174722-31-7 10201696
5
Gemcitabine Approved Phase 4,Phase 1 95058-81-4 60750
6
Hydroxychloroquine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 118-42-3 3652
7
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 9004-61-9 53477741
8
Sulfamethoxazole Approved Phase 4,Phase 2,Phase 3,Not Applicable 723-46-6 5329
9
Etoposide Approved Phase 4,Phase 1 33419-42-0 36462
10
Ranibizumab Approved Phase 4,Phase 2,Phase 1 347396-82-1 459903
11
Menthol Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 2216-51-5 16666
12
Cisplatin Approved Phase 4,Phase 1,Phase 2 15663-27-1 84093 441203 2767
13
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 79902-63-9 54454
14
Abatacept Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 332348-12-6 10237
15
Infliximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 170277-31-3
16
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 2 202409-33-4 123619
17
Ifosfamide Approved Phase 4 3778-73-2 3690
18
Aminolevulinic acid Approved Phase 4 106-60-5 137
19
Ephedrine Approved Phase 4,Phase 3,Phase 2,Not Applicable 299-42-3 9294
20
Trimethoprim Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 738-70-5 5578
21
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
22
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
23
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2,Not Applicable 90-82-4 7028
24
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1959-05-2, 59-05-2 126941
25
Sulfasalazine Approved Phase 4,Phase 3,Phase 2,Not Applicable 599-79-1 5353980 5359476
26
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-78-2 2244
27
Desogestrel Approved Phase 4 54024-22-5 40973
28
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 147536-97-8 104865
29
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 15307-86-5 3033
30
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
31
Morphine Approved, Investigational Phase 4,Phase 1,Phase 2 57-27-2 5288826
32
Pirfenidone Approved, Investigational Phase 4,Phase 3,Phase 2 53179-13-8 40632
33
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
34
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 50-02-2 5743
35
Calcium Carbonate Approved, Investigational Phase 4,Phase 3,Phase 2 471-34-1
36
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 185243-69-0
37
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
38
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
39
Goserelin Approved Phase 4,Phase 3 65807-02-5 47725 5311128
40
Ropivacaine Approved Phase 4,Phase 3,Not Applicable 84057-95-4 71273 175805
41
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 104987-11-3 445643 439492
42
Certolizumab pegol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 428863-50-7
43
Leflunomide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 75706-12-6 3899
44
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
45
Adalimumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 331731-18-1 16219006
46
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
47
Azathioprine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 446-86-6 2265
48
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable 378-44-9 9782
49
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
50
Clindamycin Approved, Vet_approved Phase 4,Not Applicable 18323-44-9 29029

Interventional clinical trials:

(show top 50) (show all 4527)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
3 The Clinical And Subclinical Effects on Arterial Stiffness of Bosentan in Patients With Systemic Sclerosis Unknown status NCT02480335 Phase 4 bosentan
4 Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in Systemic Lupus Erythematosus (SLE) Patients With Corticosteroid Therapy and High Low-Density Lipoprotein (LDL) Cholesterol Level Unknown status NCT00866229 Phase 4 Rosuvastatin;Simvastatin
5 Study of Endothelial Dysfunction in Systemic Lupus and Its Role in Heart Disease Unknown status NCT00188188 Phase 4 quinipril
6 Superficial Basal Cell Carcinoma Treatment With Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
7 An Assessment of Intra-lesional 3% Polidocanol Solution in the Treatment of Digital Myxoid Cyst Unknown status NCT02154789 Phase 4 polidocanol
8 Pilot Study to Evaluate Clinical Outcomes With the Use of Biovance Following Keloid Scar Revision Surgery Unknown status NCT02521402 Phase 4
9 Keloid Scarring: Treatment and Pathophysiology Unknown status NCT01295099 Phase 4 5- fluorouracil;Triamcinolone
10 A Randomized Clinical Study Comparing Two Closure Techniques of Excised Keloids Unknown status NCT00519493 Phase 4
11 The Clinical Efficacy and Safety of Tacrolimus in Refractory Rheumatoid Arthritis Patients for 6 Months Treatment Unknown status NCT02837978 Phase 4 Tacrolimus;MTX
12 Very Early Versus Delayed Etanercept in Patients With RA Unknown status NCT02433184 Phase 4 Etanercept;Methotrexate;Sulfasalazine;Hydroxychloroquine;Etanercept;Methotrexate
13 Study of Iguratimod Plus Methotrexate Compared to Leflunomid Plus Methotrexate in Patients With Rheumatoid Arthritis Unknown status NCT02275299 Phase 4 Iguratimod;Leflunomide;Methotrexate
14 Uncontrolled Study to Evaluate Efficacy of Tocilizumab in Patients With Moderate or Severe Rheumatoid Arthritis Unknown status NCT02087696 Phase 4 Tocilizumab
15 Efficacy Study of Leflunomide to Treat Juvenile Idiopathic Arthritis Unknown status NCT02024334 Phase 4 Leflunomide
16 Effect of Tocilizumab to the Cellular Immune Response to Influenza Vaccine Unknown status NCT01980836 Phase 4
17 Effectiveness of Iguratimod Versus Placebo to Treat Early Rheumatoid Arthritis on MRI Unknown status NCT01893151 Phase 4 Iguratimod;Iguratimod placebo
18 Adjunctive Clindamycin for Cellulitis: C4C Trial. Unknown status NCT01876628 Phase 4 Flucloxacillin and Clindamycin;Flucloxacillin and placebo
19 Evaluation Effects of Treatment With IL-6R Inhibitor on Clinical Response and Biomarkers in Patients With Rheumatoid Arthritis (RA) Not Responding to DMARDs and/or a First Biological Agent. Unknown status NCT01835613 Phase 4
20 Long-term Efficacy of Iguratimod Alone or Iguratimod in Combination With Methotrexate in Patients With Rheumatoid Arthritis Unknown status NCT01548001 Phase 4 Iguratimod;Methotrexate
21 REstore Working Ability in RheumatoiD Arthritis Unknown status NCT01405326 Phase 4
22 IVF Outcome Following Treatment With Ulipristal Acetate for Myomatous Uterus After at Least One IVF Failure Unknown status NCT02601196 Phase 4 Ulipristal acetate
23 Etanercept and Methotrexate in Patients to Induce Remission in Early Arthritis (EMPIRE) Unknown status NCT01303874 Phase 4 Etanercept (ETN);Placebo
24 Withdrawal of Etanercept After Successful Treatment of Juvenile Idiopathic Arthritis Unknown status NCT01287715 Phase 4 etanercept;etanercept
25 Ultrasonographic Monitoring of Response to Infliximab in Patients With Rheumatoid Arthritis Unknown status NCT01282528 Phase 4
26 Endometrial Preparation Before Operative Hysteroscopy in Premenopausal Women Unknown status NCT02440750 Phase 4 Dienogest;Ulipristal acetate
27 Comparison of the Effect of Etoricoxib and Diclofenac on Early Morning Activity in Rheumatoid Arthritis (RA) Unknown status NCT01067430 Phase 4 Etoricoxib;Diclofenac
28 Rotation or Change of Biotherapy After First Anti-TNF Treatment Failure for Rheumatoid Arthritis Unknown status NCT01000441 Phase 4 infliximab, etanercept, adalimumab;abatacept, rituximab or tocilizumab
29 Targeting Synovitis in Early Rheumatoid Arthritis Unknown status NCT00920478 Phase 4
30 TNF-blocking Therapy in Combination With Disease-modifying Antirheumatic Drugs in Early Rheumatoid Arthritis Unknown status NCT00908089 Phase 4 Trexan+Salazopyrin+Oxiklorin+prednisolone + infliximab;Trexan+Salazopyrin+Oxiklorin+prednisolone + placebo
31 Bucillamine Study of Holding Remission After Infliximab Dose-off Unknown status NCT00716248 Phase 4 bucillamine;methotrexate
32 Study of the Efficacy of Dienogest in the Treatment of Uterine Leiomyomas When Compared to Desogestrel and Goserelin Unknown status NCT01738724 Phase 4 Dienogest;Goserelin;Desogestrel
33 Remission Induction in Very Early Rheumatoid Arthritis Unknown status NCT00523692 Phase 4 Etanercept, methotrexate and depomedrone;depemedrone
34 Rheumatoid Arthritis Patients in Training Unknown status NCT00434200 Phase 4
35 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
36 Multicenter Randomized Prospective Trial Comparing Methotrexate Alone or in Combination With Adalimumab in Early Arthritis Unknown status NCT00291915 Phase 4 Adalimumab;Methotrexate
37 Comparison of Adalimumab and Infliximab Treatment of Rheumatoid Arthritis Unknown status NCT00216177 Phase 4 Infliximab;Adalimumab
38 Effects of Biological Treatment on Blood Pressure and Endothelial Function in Patients With Rheumatoid Arthritis, Psoriatic Arthritis and Ankylosing Spondylitis Unknown status NCT02132234 Phase 4 Etanercept;Adalimumab;Certolizumab;Infliximab
39 Vaccination Against Pertussis, Tetanus and Diphtheria in Patients Suffering From Rheumatoid Arthritis Unknown status NCT01301703 Phase 4
40 Efficacy of Intra-articular Collagen Injection in Patients With Knee Joint Pain Compared to Normal Saline Injection Unknown status NCT02539095 Phase 4
41 Comparison of Efficacy and Safety of Microfracture and Modified Microfracture Unknown status NCT02539030 Phase 4
42 CEOP/IVE/GDP Compared With CEOP as the First-line Therapy for Newly Diagnosed Adult Patients With PTCL Unknown status NCT02533700 Phase 4 CEOP/IVE/GDP chemotherapy regimen;CEOP chemotherapy regimen for 6 cycles
43 Heart Function in Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4 TNF blockers (infliximab, adalimumab, etanercept)
44 Cyclosporine A in the TReatment of Interstitial Pneumonitis Associated With Sjogren's Syndrome Unknown status NCT02370550 Phase 4 Cyclosporin A;Prednisone;Placebo;Calcium carbonate D
45 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
46 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab
47 Efficacy and Safety of Adalimumab 80 mg Every Other Week With Methotrexate Unknown status NCT01270035 Phase 4 Adalimumab
48 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
49 Influenza Vaccination in Patients With Scleroderma Unknown status NCT01002508 Phase 4
50 Cell Immunity Response to Vaccination Against Influenza in Patients With Rheumatoid Arthritis Unknown status NCT01002716 Phase 4

Search NIH Clinical Center for Connective Tissue Disease

Cochrane evidence based reviews: connective tissue diseases

Genetic Tests for Connective Tissue Disease

Genetic tests related to Connective Tissue Disease:

# Genetic test Affiliating Genes
1 Abnormality of Connective Tissue 29

Anatomical Context for Connective Tissue Disease

MalaCards organs/tissues related to Connective Tissue Disease:

41
Skin, Bone, Lung, Eye, Heart, Testes, Endothelial

Publications for Connective Tissue Disease

Articles related to Connective Tissue Disease:

(show top 50) (show all 1174)
# Title Authors Year
1
Connective tissue diseases: T cells in blood mark SjAPgren syndrome activity. ( 29416139 )
2018
2
Facts in treatment of pulmonary arterial hypertension associated to mixed connective tissue disease. ( 29685309 )
2018
3
Progression and mortality of interstitial lung disease in mixed connective tissue disease: a long-term observational nationwide cohort study. ( 28379478 )
2018
4
Hemodynamic heterogeneity of connective tissue disease patients with borderline mean pulmonary artery pressure and its distinctive characters from those with normal pulmonary artery pressure: a retrospective study. ( 29777409 )
2018
5
Interstitial lung disease in patients with mixed connective tissue disease: pilot study on predictors of lung involvement. ( 29745875 )
2018
6
The impact of anti-U1-RNP positivity: systemic lupus erythematosus versus mixed connective tissue disease. ( 29796907 )
2018
7
Superior sagittal sinus thrombosis in a case of Mixed Connective Tissue Disease. ( 29848537 )
2018
8
Lung cancer in connective tissue disease-associated interstitial lung disease: clinical features and impact on outcomes. ( 29607151 )
2018
9
Myocarditis in a girl with mixed connective tissue disease. ( 29624816 )
2018
10
Dermatology Subspecialty Clinic for Patients with Connective Tissue Disease Impacts Diagnosis and Treatment: A Single-Center, Retrospective Analysis. ( 29689327 )
2018
11
Screening for connective tissue disease-associated antibodies by automated immunoassay. ( 29306915 )
2018
12
Association of Autoimmune Connective Tissue Disease With Abdominoplasty Outcomes: A Nationwide Analysis of Outcomes. ( 29094151 )
2018
13
Vitamin D deficiency in connective tissue disease-associated interstitialA lungA disease. ( 29846166 )
2018
14
Metal hypersensitivity in the context of connective tissue disease - An opportunity for practice prevention. ( 29778965 )
2018
15
Massive Hemorrhagic Pericardial Effusion With Cardiac Tamponade as Initial Manifestation of Mixed Connective Tissue Disease. ( 29479391 )
2018
16
Could quality be the key in connective tissue disease-associated interstitial lung disease? ( 29897157 )
2018
17
Survival of connective tissue disease associated pulmonary arterial hypertension. ( 29745888 )
2018
18
Overlap of interstitial pneumonia with autoimmune features with undifferentiated connective tissue disease and contribution of UIP to mortality. ( 29320807 )
2018
19
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
20
Advocating for early interstitial lung disease detection in mixed connective tissue disease. ( 28977485 )
2018
21
Lower DHEA-S levels predict disease and worse outcomes in post-menopausal women with idiopathic, connective tissue disease- and congenital heart disease-associated pulmonary arterial hypertension. ( 29954925 )
2018
22
Aortic treatment in connective tissue disease. ( 29943958 )
2018
23
Lymphocytic interstitial pneumonia in a patient with mixed connective tissue disease - A case report. ( 29892541 )
2018
24
CT Features of the Usual Interstitial Pneumonia Pattern: Differentiating Connective Tissue Disease-Associated Interstitial Lung Disease From Idiopathic Pulmonary Fibrosis. ( 29140119 )
2018
25
Prediction of autoimmune connective tissue disease in an at-risk cohort: prognostic value of a novel two-score system for interferon status. ( 29929956 )
2018
26
Comparison of short-term outcomes for connective tissue disease-related interstitial lung disease and idiopathic pulmonary fibrosis after lung transplantation. ( 29707304 )
2018
27
Cyclophosphamide for connective tissue disease-associated interstitial lung disease. ( 29297205 )
2018
28
Following leads: connecting dysphagia to mixed connective tissue disease. ( 29507032 )
2018
29
Podocyte Infolding Glomerulopathy (PIG) in a Patient With Undifferentiated Connective Tissue Disease: A CaseA Report. ( 29395482 )
2018
30
Microparticle subpopulations are potential markers of disease progression and vascular dysfunction across a spectrum of connective tissue disease. ( 28053878 )
2017
31
The risk of autoimmune connective tissue diseases in patients with atopy: A nationwide population-based cohort study. ( 28814359 )
2017
32
Autoantibody to scaffold attachment factor B (SAFB): A novel connective tissue disease-related autoantibody associated with interstitial lung disease. ( 27682649 )
2017
33
An analysis of the clinical features of lung cancer in patients with connective tissue diseases. ( 28274531 )
2017
34
Predictors of Favorable Responses to Immunosuppressive Treatment in Pulmonary Arterial Hypertension Associated With Connective Tissue Disease. ( 28904255 )
2017
35
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
36
Inhibition of endocan attenuates monocrotaline-induced connective tissue disease related pulmonary arterial hypertension. ( 27912147 )
2017
37
An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report. ( 28700492 )
2017
38
Radiologic pleuroparenchymal fibroelastosis-like lesion in connective tissue disease-related interstitial lung disease. ( 28666014 )
2017
39
Emergence of Smoldering ANCA-associated Glomerulonephritis During the Clinical Course of Mixed Connective Tissue Disease and SjAPgren's Syndrome. ( 29269683 )
2017
40
Review of Primary Cutaneous Mucinoses in Nonlupus Connective Tissue Diseases. ( 28673091 )
2017
41
Undifferentiated connective tissue disease, fibromyalgia and the environmental factors. ( 28368979 )
2017
42
Pulmonary fibrosis in connective tissue disease (CTD): urgent challenges and opportunities. ( 28899080 )
2017
43
Replacing a phosphodiesterase-5 inhibitor with riociguat in patients with connective tissue disease-associated pulmonary arterial hypertension: a case series. ( 28671485 )
2017
44
Undifferentiated connective tissue disease: predictors of evolution into definite disease. ( 28770704 )
2017
45
Treatment of Vasodilator-resistant Mixed Connective Tissue Disease-associated Pulmonary Arterial Hypertension with Glucocorticoid and Cyclophosphamide. ( 28202869 )
2017
46
Tadalafil in idiopathic or heritable pulmonary arterial hypertension (PAH) compared to PAH associated with connective tissue disease. ( 28279499 )
2017
47
Cardiac involvement in undifferentiated connective tissue disease at risk for systemic sclerosis (otherwise referred to as very early-early systemic sclerosis): a TDI study. ( 28993902 )
2017
48
Facts and controversies in mixed connective tissue disease. ( 28864092 )
2017
49
BentallA9s Procedure in Pediatric Mixed Connective Tissue Disease Syndrome: Management of Pediatric Aortic Aneurysm - A Brief Review. ( 29762936 )
2017
50
Open Thoracic and Thoraco-abdominal Aortic Repair in Patients with Connective Tissue Disease. ( 28916127 )
2017

Variations for Connective Tissue Disease

ClinVar genetic disease variations for Connective Tissue Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh37 Chromosome 10, 90701066: 90701066
2 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh38 Chromosome 10, 88941309: 88941309
3 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh37 Chromosome 11, 47433573: 47433573
4 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh38 Chromosome 11, 47412022: 47412022
5 ACTA2 NM_001613.2(ACTA2): c.296C> G (p.Ala99Gly) single nucleotide variant Uncertain significance rs779757924 GRCh37 Chromosome 10, 90703627: 90703627
6 ACTA2 NM_001613.2(ACTA2): c.296C> G (p.Ala99Gly) single nucleotide variant Uncertain significance rs779757924 GRCh38 Chromosome 10, 88943870: 88943870
7 ACTA2 NM_001613.3(ACTA2): c.612T> C (p.Thr204=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 90700990: 90700990
8 ACTA2 NM_001613.3(ACTA2): c.612T> C (p.Thr204=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 88941233: 88941233
9 ACTA2 NM_001613.3(ACTA2): c.370-19delT deletion Likely benign GRCh37 Chromosome 10, 90701645: 90701645
10 ACTA2 NM_001613.3(ACTA2): c.370-19delT deletion Likely benign GRCh38 Chromosome 10, 88941888: 88941888

Expression for Connective Tissue Disease

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

Pathways for Connective Tissue Disease

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 ACTA2 ACVRL1 BMPR2 CD40LG COL3A1 COL5A1
2
Show member pathways
13.24 ACTA2 ACVRL1 BMPR2 CD40LG IL10 IL6
3
Show member pathways
13.1 ACTA2 ACVRL1 BMPR2 CD40LG IL10 IL6
4
Show member pathways
12.94 ACTA2 COL3A1 COL5A1 FBN1 FBN2 IL6
5
Show member pathways
12.62 COL3A1 COL5A1 FBN1 FBN2 PLOD1
6
Show member pathways
12.33 HLA-DRB1 IL10 IL6 TNF
7
Show member pathways
12.31 CD40LG IL10 IL6 TNF
8
Show member pathways
12.3 CD40LG COL5A1 HLA-DRB1 HSPD1 IL10 IL6
9
Show member pathways
12.12 CD40LG HLA-DRB1 IL10 TNF
10 12.02 HSPD1 IL10 IL6 TNF
11 11.91 HLA-DRB1 HSPD1 IL10 IL6 TNF
12 11.77 CD40LG TNF TNFSF13B
13 11.69 COL3A1 IL10 IL6 TNF
14 11.66 IL10 IL6 TNF
15 11.64 IL10 IL6 TNF
16
Show member pathways
11.62 CD40LG TNF TNFSF13B
17 11.62 HLA-DRB1 IL6 TNF TNFSF13B
18
Show member pathways
11.53 CD40LG IL6 TNF
19 11.45 HSPD1 IL6 TNF
20 11.39 IL10 IL6 TNF
21 11.2 IL10 IL6 TNF
22 11.18 IL10 IL6 TNF
23 11.15 CD40LG IL10 IL6 TNF
24 10.4 HLA-DRB1 IL10 IL6 TNF

GO Terms for Connective Tissue Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 ADAMTS13 APOH CD40LG COL3A1 COL5A1 FBN1
2 endoplasmic reticulum lumen GO:0005788 9.72 ADAMTS13 COL3A1 COL5A1 FBN1 IL6
3 extracellular matrix GO:0031012 9.65 APOH COL3A1 COL5A1 FBN1 FBN2
4 cell surface GO:0009986 9.56 ACVRL1 ADAMTS13 APOH BMPR2 CD40LG HLA-DRB1
5 extracellular space GO:0005615 9.44 ACTA2 ADAMTS13 APOH BMPR2 CD40LG COL3A1
6 microfibril GO:0001527 9.37 FBN1 FBN2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 T cell costimulation GO:0031295 9.81 CD40LG HLA-DRB1 TNFSF13B
2 regulation of blood pressure GO:0008217 9.8 ACTA2 ACVRL1 EDNRA
3 positive regulation of endothelial cell proliferation GO:0001938 9.79 ACVRL1 BMPR2 IL10
4 response to glucocorticoid GO:0051384 9.78 IL10 IL6 TNF
5 cellular response to lipopolysaccharide GO:0071222 9.78 ADAMTS13 IL10 IL6 TNF
6 positive regulation of T cell proliferation GO:0042102 9.76 CD40LG IL6 TNFSF13B
7 positive regulation of osteoblast differentiation GO:0045669 9.75 BMPR2 FBN2 IL6
8 immune response GO:0006955 9.73 CD40LG HLA-DRB1 IL10 IL6 TNF TNFSF13B
9 positive regulation of interleukin-6 production GO:0032755 9.72 HSPD1 IL6 TNF
10 supramolecular fiber organization GO:0097435 9.65 COL3A1 COL5A1
11 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 IL10 TNF
12 lymphangiogenesis GO:0001946 9.65 ACVRL1 BMPR2
13 negative regulation of DNA biosynthetic process GO:2000279 9.64 ACVRL1 BMPR2
14 embryonic eye morphogenesis GO:0048048 9.63 FBN1 FBN2
15 negative regulation of endothelial cell proliferation GO:0001937 9.63 ACVRL1 APOH TNF
16 regulation of signaling receptor activity GO:0010469 9.63 CD40LG FBN1 IL10 IL6 TNF TNFSF13B
17 negative regulation of lipid storage GO:0010888 9.62 IL6 TNF
18 wound healing, spreading of epidermal cells GO:0035313 9.62 ACVRL1 COL5A1
19 platelet activation GO:0030168 9.62 ADAMTS13