MCID: CNN005
MIFTS: 67

Connective Tissue Disease

Categories: Bone diseases, Cancer diseases, Muscle diseases, Skin diseases

Aliases & Classifications for Connective Tissue Disease

MalaCards integrated aliases for Connective Tissue Disease:

Name: Connective Tissue Disease 12 15 17
Connective Tissue Diseases 56 45 74
Abnormality of Connective Tissue 30 6
Connective Tissue Disorder 12 6
Disorder of Connective Tissue 12
Connective Tissue Disorders 44

Classifications:



External Ids:

Disease Ontology 12 DOID:65
MeSH 45 D003240
NCIt 51 C26729
UMLS 74 C0009782

Summaries for Connective Tissue Disease

MedlinePlus : 44 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 marden-walker syndrome, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Connective Tissue Disease is ACTA2 (Actin Alpha 2, Smooth Muscle), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. The drugs Pirfenidone and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are cardiovascular system and growth/size/body region

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

Wikipedia : 77 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 699)
# Related Disease Score Top Affiliating Genes
1 mixed connective tissue disease 34.9 ADAMTS13 APOH BMPR2 HLA-DRB1 HSPD1 IL10
2 marden-walker syndrome 32.8 FBN1 FBN2
3 collagen disease 32.7 CENPB COL3A1 COL5A1 FBN1 IL6 PLOD1
4 loeys-dietz syndrome 32.6 ACTA2 COL3A1 FBN1 FBN2
5 marfan syndrome 32.4 ACTA2 COL3A1 FBN1 FBN2
6 aortic aneurysm, familial thoracic 1 32.3 ACTA2 COL3A1 FBN1
7 rheumatic fever 32.2 HLA-DRB1 IL10 IL6 TNF
8 weill-marchesani syndrome 32.1 ADAMTS13 FBN1 FBN2 TNF
9 ehlers-danlos syndrome, classic type, 2 32.0 COL3A1 COL5A1
10 lung disease 32.0 IL10 IL6 SFTPD TNF
11 interstitial lung disease 31.9 IL10 IL6 SFTPD TNF
12 ehlers-danlos syndrome, vascular type 31.8 COL3A1 COL5A1
13 arthritis 31.8 HLA-DRB1 IL10 IL6 TNF
14 scleroderma, familial progressive 31.7 APOH FBN1 RNPC3
15 pneumonia 31.7 IL10 IL6 SFTPD TNF
16 systemic lupus erythematosus 31.5 ADAMTS13 APOH HLA-DRB1 IL10 IL6 RNPC3
17 rheumatoid arthritis 31.5 HLA-DRB1 IL10 IL6 TNF TNFSF13B
18 microscopic polyangiitis 31.5 HLA-DRB1 TNF
19 vasculitis 31.5 APOH TNF TNFSF13B
20 meningitis 31.2 IL10 IL6 TNF
21 purpura 31.2 ADAMTS13 APOH IL6 TNF
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.0 HSPD1 IL10 TNFSF13B
23 extrinsic allergic alveolitis 30.8 IL10 IL6 SFTPD
24 reactive arthritis 30.8 HSPD1 IL10 TNF
25 rheumatic disease 30.8 APOH CENPB HLA-DRB1 IL10 RNPC3 TNF
26 kawasaki disease 30.8 HSPD1 IL10 IL6 TNF
27 portal hypertension 30.8 BMPR2 EDNRA TNF
28 myelitis 30.8 APOH IL6 TNF
29 takayasu arteritis 30.8 HLA-DRB1 IL6 TNF
30 spondyloarthropathy 30.8 IL10 IL6 TNF
31 neuromyelitis optica 30.8 HLA-DRB1 IL6 TNFSF13B
32 bronchiolitis 30.8 IL10 IL6 TNF
33 myasthenia gravis 30.8 IL10 TNF TNFSF13B
34 temporal arteritis 30.7 APOH HLA-DRB1 IL6 TNF
35 vascular disease 30.7 APOH BMPR2 HSPD1 IL6 TNF
36 heart disease 30.7 BMPR2 EDNRA IL10 IL6 TNF
37 autoimmune disease 30.7 APOH HLA-DRB1 HSPD1 IL10 IL6 TNF
38 multiple sclerosis 30.7 HLA-DRB1 IL10 IL6 TNF TNFSF13B
39 transverse myelitis 30.7 APOH IL10 IL6 TNF
40 behcet syndrome 30.7 APOH HSPD1 IL10 IL6 TNF
41 systemic scleroderma 30.6 CENPB FBN1 SFTPD
42 gastroenteritis 30.6 IL10 IL6 TNF
43 juvenile rheumatoid arthritis 30.6 HLA-DRB1 IL6 TNF
44 discoid lupus erythematosus 30.6 APOH HLA-DRB1 IL10
45 aortic disease 30.6 ACTA2 FBN1 IL6
46 ehlers-danlos syndrome 30.5 COL3A1 COL5A1 PLOD1
47 leishmaniasis 30.5 HLA-DRB1 IL10 TNF
48 hematopoietic stem cell transplantation 30.5 IL10 IL6 TNF
49 chronic fatigue syndrome 30.4 IL10 IL6 TNF
50 human immunodeficiency virus infectious disease 30.4 IL10 IL6 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, sciatica, muscle cramp, joint symptom, musculoskeletal symptom

MGI Mouse Phenotypes related to Connective Tissue Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ABCC6 ACTA2 BMPR2 COL3A1 COL5A1 EDNRA
2 growth/size/body region MP:0005378 10.18 BMPR2 CENPB COL3A1 COL5A1 EDNRA FBN1
3 homeostasis/metabolism MP:0005376 10.15 ABCC6 ADAMTS13 APOH BMPR2 COL3A1 EDNRA
4 mortality/aging MP:0010768 10.13 ADAMTS13 APOH BMPR2 CENPB COL3A1 COL5A1
5 integument MP:0010771 9.97 ABCC6 COL3A1 COL5A1 EDNRA FBN1 IL10
6 muscle MP:0005369 9.9 ACTA2 BMPR2 COL3A1 EDNRA FBN1 FBN2
7 respiratory system MP:0005388 9.61 BMPR2 COL3A1 EDNRA FBN1 FBN2 IL10
8 vision/eye MP:0005391 9.28 ABCC6 ACTA2 ADAMTS13 COL5A1 EDNRA FBN2

Drugs & Therapeutics for Connective Tissue Disease

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

(show top 50) (show all 987)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 4,Phase 3,Phase 2 53179-13-8 40632
2
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 79902-63-9 54454
3
Aminolevulinic acid Approved Phase 4 106-60-5 137
4
Polidocanol Approved Phase 4 9002-92-0
5
Fluorouracil Approved Phase 4 51-21-8 3385
6
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
7
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1959-05-2, 59-05-2 126941
8
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 58-05-9 6006 143
9
Abatacept Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 332348-12-6 10237
10
Hydroxychloroquine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 118-42-3 3652
11
Sulfasalazine Approved Phase 4,Phase 3,Phase 2,Not Applicable 599-79-1 5353980 5359476
12
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 185243-69-0
13
Leflunomide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 75706-12-6 3899
14
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
15
Clindamycin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 18323-44-9 29029
16
Infliximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 170277-31-3
17
Certolizumab pegol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 428863-50-7
18
Adalimumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 331731-18-1 16219006
19
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
20
Dienogest Approved Phase 4 65928-58-7
21
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 4 62-90-8 229455
22
Leuprolide Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 53714-56-0 657181 3911
23
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 15307-86-5 3033
24
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 2 202409-33-4 123619
25
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 174722-31-7 10201696
26
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
27
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2921-57-5
28
Ethanol Approved Phase 4,Phase 3,Phase 2,Not Applicable 64-17-5 702
29
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 16590-41-3 5360515
30
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
31
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 302-25-0
32
Goserelin Approved Phase 4,Phase 3 65807-02-5 5311128 47725
33
Desogestrel Approved Phase 4 54024-22-5 40973
34
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 68-04-2
35
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 147536-97-8 104865
36
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 50-02-2 5743
37
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1177-87-3
38
Gemcitabine Approved Phase 4,Phase 1 95058-81-4 60750
39
Cisplatin Approved Phase 4,Phase 1,Phase 2 15663-27-1 441203 84093 2767
40
Etoposide Approved Phase 4,Phase 1 33419-42-0 36462
41
Ifosfamide Approved Phase 4,Phase 2,Phase 3 3778-73-2 3690
42
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53-03-2 5865
43
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
44
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
45
Epirubicin Approved Phase 4 56420-45-2 41867
46
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
47
Calcium Carbonate Approved, Investigational Phase 4,Phase 3,Phase 2 471-34-1
48
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 2 171596-29-5 110635
49
Ambrisentan Approved, Investigational Phase 4,Phase 2,Not Applicable 177036-94-1 6918493
50
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 50-03-3

Interventional clinical trials:

(show top 50) (show all 4942)
# 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 Acthar for the Treatment of Systemic Lupus Erythematosus in Patients With a History of Persistently Active Disease Unknown status NCT01753401 Phase 4 Acthar;Placebo for Acthar
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 the Efficacy and Safety of a Modified Microfracture Using Collagen Compared to Those of a Simple Microfracture in Ankle Unknown status NCT02519881 Phase 4
8 An Assessment of Intra-lesional 3% Polidocanol Solution in the Treatment of Digital Myxoid Cyst Unknown status NCT02154789 Phase 4 polidocanol
9 Pilot Study to Evaluate Clinical Outcomes With the Use of Biovance Following Keloid Scar Revision Surgery Unknown status NCT02521402 Phase 4
10 Keloid Scarring: Treatment and Pathophysiology Unknown status NCT01295099 Phase 4 5- fluorouracil;Triamcinolone
11 Efficacy, Radiographic and Laboratory Changes in Refractory Rheumatoid Arthritis Patients Treated With H.P. Acthar Gel Unknown status NCT03082573 Phase 4 H.P. Acthar gel
12 Kunxian for the Treatment of Rheumatoid Arthritis Unknown status NCT02764515 Phase 4 Kunxian Capsule;Methotrexate
13 Inhibition of Co-Stimulation in Rheumatoid Arthritis Unknown status NCT02652273 Phase 4 Abatacept
14 Very Early Versus Delayed Etanercept in Patients With RA Unknown status NCT02433184 Phase 4 Etanercept;Methotrexate;Sulfasalazine;Hydroxychloroquine;Etanercept;Methotrexate
15 Study of Iguratimod Plus Methotrexate Compared to Leflunomid Plus Methotrexate in Patients With Rheumatoid Arthritis Unknown status NCT02275299 Phase 4 Iguratimod;Leflunomide;Methotrexate
16 Uncontrolled Study to Evaluate Efficacy of Tocilizumab in Patients With Moderate or Severe Rheumatoid Arthritis Unknown status NCT02087696 Phase 4 Tocilizumab
17 Efficacy Study of Leflunomide to Treat Juvenile Idiopathic Arthritis Unknown status NCT02024334 Phase 4 Leflunomide
18 Effect of Tocilizumab to the Cellular Immune Response to Influenza Vaccine Unknown status NCT01980836 Phase 4
19 Effectiveness of Iguratimod Versus Placebo to Treat Early Rheumatoid Arthritis on MRI Unknown status NCT01893151 Phase 4 Iguratimod;Iguratimod placebo
20 Adjunctive Clindamycin for Cellulitis: C4C Trial. Unknown status NCT01876628 Phase 4 Flucloxacillin and Clindamycin;Flucloxacillin and placebo
21 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
22 Effect of Monoclonal Anti-IL6 Antibody (Tocilizumab) on the Cardiovascular Risk in Patients With Rheumatoid Arthritis Unknown status NCT01752335 Phase 4
23 RHYTHM (Formerly Escape II Myocardium) Unknown status NCT01548768 Phase 4 TNF inhibitors;DMARDs
24 Long-term Efficacy of Iguratimod Alone or Iguratimod in Combination With Methotrexate in Patients With Rheumatoid Arthritis Unknown status NCT01548001 Phase 4 Iguratimod;Methotrexate
25 REstore Working Ability in RheumatoiD Arthritis Unknown status NCT01405326 Phase 4
26 IVF Outcome Following Treatment With Ulipristal Acetate for Myomatous Uterus After at Least One IVF Failure Unknown status NCT02601196 Phase 4 Ulipristal acetate
27 Etanercept and Methotrexate in Patients to Induce Remission in Early Arthritis (EMPIRE) Unknown status NCT01303874 Phase 4 Etanercept (ETN);Placebo
28 Withdrawal of Etanercept After Successful Treatment of Juvenile Idiopathic Arthritis Unknown status NCT01287715 Phase 4 etanercept;etanercept
29 Ultrasonographic Monitoring of Response to Infliximab in Patients With Rheumatoid Arthritis Unknown status NCT01282528 Phase 4
30 Endometrial Preparation Before Operative Hysteroscopy in Premenopausal Women Unknown status NCT02440750 Phase 4 Dienogest;Ulipristal acetate
31 Ulipristal Acetate for the Preoperative Management of Hypoechoic Cellular Leiomyomas Unknown status NCT02361905 Phase 4 ulipristal acetate;Leuprolide acetate
32 Ulipristal Acetate Versus GnRH Analogue Treatment Before Hysteroscopic Resection of Uterine Leiomyoma Unknown status NCT02361879 Phase 4 ulipristal acetate;Leuprolide acetate
33 Comparison of the Effect of Etoricoxib and Diclofenac on Early Morning Activity in Rheumatoid Arthritis (RA) Unknown status NCT01067430 Phase 4 Etoricoxib;Diclofenac
34 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
35 Targeting Synovitis in Early Rheumatoid Arthritis Unknown status NCT00920478 Phase 4
36 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
37 Bucillamine Study of Holding Remission After Infliximab Dose-off Unknown status NCT00716248 Phase 4 bucillamine;methotrexate
38 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
39 Remission Induction in Very Early Rheumatoid Arthritis Unknown status NCT00523692 Phase 4 Etanercept, methotrexate and depomedrone;depemedrone
40 Rheumatoid Arthritis Patients in Training Unknown status NCT00434200 Phase 4
41 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
42 Multicenter Randomized Prospective Trial Comparing Methotrexate Alone or in Combination With Adalimumab in Early Arthritis Unknown status NCT00291915 Phase 4 Adalimumab;Methotrexate
43 Comparison of Adalimumab and Infliximab Treatment of Rheumatoid Arthritis Unknown status NCT00216177 Phase 4 Infliximab;Adalimumab
44 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
45 To Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
46 Vaccination Against Pertussis, Tetanus and Diphtheria in Patients Suffering From Rheumatoid Arthritis Unknown status NCT01301703 Phase 4
47 Heart Function in Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4 TNF blockers (infliximab, adalimumab, etanercept)
48 Efficacy of Intra-articular Collagen Injection in Patients With Knee Joint Pain Compared to Normal Saline Injection Unknown status NCT02539095 Phase 4
49 Comparison of Efficacy and Safety of Microfracture and Modified Microfracture Unknown status NCT02539030 Phase 4
50 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

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 30

Anatomical Context for Connective Tissue Disease

MalaCards organs/tissues related to Connective Tissue Disease:

42
Skin, Lung, Bone, Eye, Testes, Heart, Endothelial

Publications for Connective Tissue Disease

Articles related to Connective Tissue Disease:

(show top 50) (show all 2570)
# Title Authors Year
1
Insulin resistance vary across connective tissue diseases patients: comparison between rheumatoid arthritis, systemic lupus erythematosus and systemic sclerosis. ( 30652676 )
2019
2
Successful treatment of psoriatic arthritis with apremilast in a mixed connective tissue disease patient. ( 30636395 )
2019
3
Autologous breast reconstruction surgery outcomes in patients with autoimmune connective tissue disease. ( 30665841 )
2019
4
Connective Tissue Disease: Current Concepts. ( 30466687 )
2019
5
Proceedings of the American College of Rheumatology/Association of Physicians of Great Britain and Ireland Connective Tissue Disease-Associated Interstitial Lung Disease Summit: A Multidisciplinary Approach to Address Challenges and Opportunities. ( 30604506 )
2019
6
Proceedings of the American College of Rheumatology/Association of Physicians of Great Britain and Ireland Connective Tissue Disease-Associated Interstitial Lung Disease Summit: A Multidisciplinary Approach to Address Challenges and Opportunities. ( 30605544 )
2019
7
Supplementing Dermatology Physician Resident Education in Vasculitis and Autoimmune Connective Tissue Disease: A Prospective Study of an Online Curriculum. ( 30624565 )
2019
8
Approach to the Patient With Connective Tissue Disease and Diffuse Lung Disease. ( 30684993 )
2019
9
Breast involvement in mixed connective tissue disease. ( 30701011 )
2019
10
Dendritic Cell Subsets and Effector Function in Idiopathic and Connective Tissue Disease-Associated Pulmonary Arterial Hypertension. ( 30723471 )
2019
11
Feasibility of low-dose CT with spectral shaping and third-generation iterative reconstruction in evaluating interstitial lung diseases associated with connective tissue disease: an intra-individual comparison study. ( 30737567 )
2019
12
Serum KL-6 levels reflect the severity of interstitial lung disease associated with connective tissue disease. ( 30764869 )
2019
13
Preclinical Carotid Atherosclerosis in Patients With Juvenile-Onset Mixed Connective Tissue Disease. ( 30772156 )
2019
14
Association of Autoimmune Connective Tissue Disease and Outcomes in Patients Undergoing Transcatheter Aortic Valve Implantation. ( 30850212 )
2019
15
Invasive mycoses in patients with connective tissue disease from Southern China: clinical features and associated factors. ( 30867045 )
2019
16
Connective Tissue Disease Associated Interstitial Lung Disease - An Acute Exacerbation In Emergency Room. ( 30868797 )
2019
17
Imaging findings of mixed connective tissue disease in children and adolescents: a case series. ( 30875012 )
2019
18
Effect on Cardiac Function of Longstanding Juvenile-onset Mixed Connective Tissue Disease: A Controlled Study. ( 30877222 )
2019
19
Podocytic infolding glomerulopathy: two new cases with connective tissue disease and literature review. ( 30879204 )
2019
20
Mixed connective tissue disease in pregnancy: A case series and systematic literature review. ( 30891090 )
2019
21
Sulfasalazine-Induced Connective Tissue Disease. ( 30896461 )
2019
22
Anca negative pauci-immune crescentic glomerulonephritis and mixed connective tissue disease: a case study. ( 30897193 )
2019
23
Predictors of exercise-induced pulmonary hypertension in patients with connective tissue disease. ( 30904986 )
2019
24
Comparison of clinical courses and mortality of connective tissue disease-associated interstitial pneumonias and chronic fibrosing idiopathic interstitial pneumonias. ( 30913371 )
2019
25
Differences in clinical features of acute exacerbation between connective tissue disease-associated interstitial pneumonia and idiopathic pulmonary fibrosis. ( 30380910 )
2019
26
Cytokine secretion and the risk of depression development in patients with connective tissue diseases. ( 30719813 )
2019
27
Interstitial Lung Disease and Other Pulmonary Manifestations in Connective Tissue Diseases. ( 30558827 )
2019
28
Efficacies of atovaquone, pentamidine, and trimethoprim/sulfamethoxazole for the prevention of Pneumocystis jirovecii pneumonia in patients with connective tissue diseases. ( 30711257 )
2019
29
"Rituximab hypersensitivity and desensitization: A personalized approach to treat cancer and connective tissue diseases". ( 30885801 )
2019
30
Associations between maternal clinical features and fetal outcomes in pregnancies of mothers with connective tissue diseases. ( 29532744 )
2019
31
Mortality and causes of death across the systemic connective tissue diseases and the primary systemic vasculitides. ( 30281089 )
2019
32
Mechanic hands: clinical and capillaroscopy manifestations of patients with connective tissue diseases presented with and without mechanic hands. ( 30635856 )
2019
33
Autoimmune connective tissue diseases and pregnancy. ( 30650958 )
2019
34
Autoimmune Connective Tissue Diseases and the Risk of Rotator Cuff Repair Surgery: A Population-Based Retrospective Cohort Study. ( 30808669 )
2019
35
Connective tissue diseases: T cells in blood mark SjAPgren syndrome activity. ( 29416139 )
2018
36
Facts in treatment of pulmonary arterial hypertension associated to mixed connective tissue disease. ( 29685309 )
2018
37
Progression and mortality of interstitial lung disease in mixed connective tissue disease: a long-term observational nationwide cohort study. ( 28379478 )
2018
38
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
39
Interstitial lung disease in patients with mixed connective tissue disease: pilot study on predictors of lung involvement. ( 29745875 )
2018
40
The impact of anti-U1-RNP positivity: systemic lupus erythematosus versus mixed connective tissue disease. ( 29796907 )
2018
41
Superior sagittal sinus thrombosis in a case of Mixed Connective Tissue Disease. ( 29848537 )
2018
42
Lung cancer in connective tissue disease-associated interstitial lung disease: clinical features and impact on outcomes. ( 29607151 )
2018
43
Myocarditis in a girl with mixed connective tissue disease. ( 29624816 )
2018
44
Dermatology Subspecialty Clinic for Patients with Connective Tissue Disease Impacts Diagnosis and Treatment: A Single-Center, Retrospective Analysis. ( 29689327 )
2018
45
Screening for connective tissue disease-associated antibodies by automated immunoassay. ( 29306915 )
2018
46
Association of Autoimmune Connective Tissue Disease With Abdominoplasty Outcomes: A Nationwide Analysis of Outcomes. ( 29094151 )
2018
47
Vitamin D deficiency in connective tissue disease-associated interstitialA lungA disease. ( 29846166 )
2018
48
Metal hypersensitivity in the context of connective tissue disease - An opportunity for practice prevention. ( 29778965 )
2018
49
Massive Hemorrhagic Pericardial Effusion With Cardiac Tamponade as Initial Manifestation of Mixed Connective Tissue Disease. ( 29479391 )
2018
50
Could quality be the key in connective tissue disease-associated interstitial lung disease? ( 29897157 )
2018

Variations for Connective Tissue Disease

ClinVar genetic disease variations for Connective Tissue Disease:

6 (show top 50) (show all 1024)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL3A1 NM_000090.3(COL3A1): c.812G> A (p.Arg271Gln) single nucleotide variant Benign/Likely benign rs112185887 GRCh37 Chromosome 2, 189855743: 189855743
2 COL3A1 NM_000090.3(COL3A1): c.812G> A (p.Arg271Gln) single nucleotide variant Benign/Likely benign rs112185887 GRCh38 Chromosome 2, 188991017: 188991017
3 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh37 Chromosome 2, 189875018: 189875018
4 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh38 Chromosome 2, 189010292: 189010292
5 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh37 Chromosome 3, 30733044: 30733044
6 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh38 Chromosome 3, 30691552: 30691552
7 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
8 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
9 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh37 Chromosome 16, 15872688: 15872688
10 MYH11 NM_001040113.1(MYH11): c.760C> T (p.Arg254Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150759461 GRCh38 Chromosome 16, 15778831: 15778831
11 FBN2 NM_001999.3(FBN2): c.3430G> A (p.Glu1144Lys) single nucleotide variant Uncertain significance rs200060005 GRCh38 Chromosome 5, 128338975: 128338975
12 FBN2 NM_001999.3(FBN2): c.3430G> A (p.Glu1144Lys) single nucleotide variant Uncertain significance rs200060005 GRCh37 Chromosome 5, 127674667: 127674667
13 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
14 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
15 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
16 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
17 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
18 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
19 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh38 Chromosome 6, 33172356: 33172356
20 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh37 Chromosome 6, 33140133: 33140133
21 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh37 Chromosome 1, 103364487: 103364487
22 COL11A1 NM_001854.3(COL11A1): c.4140+10A> T single nucleotide variant Benign/Likely benign rs187171126 GRCh38 Chromosome 1, 102898931: 102898931
23 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh37 Chromosome 1, 103379193: 103379193
24 COL11A1 NM_001854.3(COL11A1): c.4032G> A (p.Pro1344=) single nucleotide variant Conflicting interpretations of pathogenicity rs147637674 GRCh38 Chromosome 1, 102913637: 102913637
25 COL2A1 NM_001844.4(COL2A1): c.2334C> T (p.Ala778=) single nucleotide variant Conflicting interpretations of pathogenicity rs35504014 GRCh37 Chromosome 12, 48375911: 48375911
26 COL2A1 NM_001844.4(COL2A1): c.2334C> T (p.Ala778=) single nucleotide variant Conflicting interpretations of pathogenicity rs35504014 GRCh38 Chromosome 12, 47982128: 47982128
27 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh37 Chromosome X, 153577722: 153577722
28 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh38 Chromosome X, 154349354: 154349354
29 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150147262 GRCh38 Chromosome 9, 134701193: 134701193
30 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150147262 GRCh37 Chromosome 9, 137593039: 137593039
31 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh38 Chromosome 9, 134835184: 134835184
32 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh37 Chromosome 9, 137727030: 137727030
33 SMAD3 NM_005902.3(SMAD3): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs730880214 GRCh38 Chromosome 15, 67181442: 67181442
34 SMAD3 NM_005902.3(SMAD3): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs730880214 GRCh37 Chromosome 15, 67473780: 67473780
35 MYH11 NM_001040113.1(MYH11): c.4625G> A (p.Arg1542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137934837 GRCh37 Chromosome 16, 15814883: 15814883
36 MYH11 NM_001040113.1(MYH11): c.4625G> A (p.Arg1542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs137934837 GRCh38 Chromosome 16, 15721026: 15721026
37 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh37 Chromosome X, 153587375: 153587375
38 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh38 Chromosome X, 154359007: 154359007
39 MYLK NM_053025.3(MYLK): c.1007C> T (p.Pro336Leu) single nucleotide variant Benign/Likely benign rs35912339 GRCh37 Chromosome 3, 123452836: 123452836
40 MYLK NM_053025.3(MYLK): c.1007C> T (p.Pro336Leu) single nucleotide variant Benign/Likely benign rs35912339 GRCh38 Chromosome 3, 123733989: 123733989
41 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh37 Chromosome X, 153593041: 153593041
42 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh38 Chromosome X, 154364673: 154364673
43 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh37 Chromosome X, 153590902: 153590902
44 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh38 Chromosome X, 154362534: 154362534
45 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh37 Chromosome X, 153588203: 153588203
46 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh38 Chromosome X, 154359835: 154359835
47 COL3A1 NM_000090.3(COL3A1): c.1815+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs146652498 GRCh37 Chromosome 2, 189861949: 189861949
48 COL3A1 NM_000090.3(COL3A1): c.1815+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs146652498 GRCh38 Chromosome 2, 188997223: 188997223
49 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh37 Chromosome X, 153586585: 153586585
50 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh38 Chromosome X, 154358217: 154358217

Cosmic variations for Connective Tissue Disease:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 0
2 COSM1732355 H3F3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 0
3 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 0
4 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 0

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ACTA2 BMPR2 COL3A1 COL5A1 FBN1 FBN2
2
Show member pathways
12.92 ACTA2 COL3A1 COL5A1 FBN1 FBN2 IL6
3
Show member pathways
12.59 COL3A1 COL5A1 FBN1 FBN2 PLOD1
4
Show member pathways
12.54 COL5A1 HLA-DRB1 HSPD1 IL10 IL6 TNF
5
Show member pathways
12.1 ACTA2 COL3A1 COL5A1 FBN1 FBN2
6 11.97 HSPD1 IL10 IL6 TNF
7 11.81 HLA-DRB1 HSPD1 IL10 IL6 TNF
8 11.78 COL3A1 IL6 TNF
9 11.75 HLA-DRB1 IL6 TNF
10 11.65 COL3A1 IL10 IL6 TNF
11 11.64 IL10 IL6 TNF
12 11.62 IL10 IL6 TNF
13 11.59 IL10 IL6 TNF
14 11.58 HLA-DRB1 IL6 TNF TNFSF13B
15 11.43 HSPD1 IL6 TNF
16 11.36 IL10 IL6 TNF
17 11.34 IL10 IL6 TNF
18 11.18 IL10 IL6 TNF
19 11.12 IL10 IL6 TNF
20 11.06 IL10 IL6 TNF TNFSF13B
21 10.72 HLA-DRB1 IL10 IL6 TNF
22 10.13 COL3A1 COL5A1 FBN1 FBN2 IL10 IL6

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 cell surface GO:0009986 9.85 ADAMTS13 APOH BMPR2 HLA-DRB1 HSPD1 TNF
2 extracellular matrix GO:0031012 9.72 ADAMTS13 COL3A1 COL5A1 FBN1 FBN2
3 extracellular region GO:0005576 9.7 ADAMTS13 APOH COL3A1 COL5A1 FBN1 FBN2
4 endoplasmic reticulum lumen GO:0005788 9.65 ADAMTS13 COL3A1 COL5A1 FBN1 IL6
5 collagen trimer GO:0005581 9.61 COL3A1 COL5A1 SFTPD
6 collagen-containing extracellular matrix GO:0062023 9.55 APOH COL3A1 COL5A1 FBN1 FBN2
7 extracellular space GO:0005615 9.44 ACTA2 ADAMTS13 APOH BMPR2 COL3A1 COL5A1
8 microfibril GO:0001527 9.4 FBN1 FBN2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.96 HLA-DRB1 IL10 IL6 TNF TNFSF13B
2 regulation of signaling receptor activity GO:0010469 9.92 FBN1 IL10 IL6 TNF TNFSF13B
3 cellular response to lipopolysaccharide GO:0071222 9.73 ADAMTS13 IL10 IL6 TNF
4 positive regulation of interleukin-6 production GO:0032755 9.69 HSPD1 IL6 TNF
5 positive regulation of osteoblast differentiation GO:0045669 9.67 BMPR2 FBN2 IL6
6 negative regulation of growth of symbiont in host GO:0044130 9.59 IL10 TNF
7 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.58 IL10 TNF
8 response to organic substance GO:0010033 9.58 IL10 TNF
9 collagen fibril organization GO:0030199 9.58 COL3A1 COL5A1 PLOD1
10 supramolecular fiber organization GO:0097435 9.57 COL3A1 COL5A1
11 embryonic eye morphogenesis GO:0048048 9.55 FBN1 FBN2
12 extracellular matrix organization GO:0030198 9.55 COL3A1 COL5A1 FBN1 FBN2 TNF
13 negative regulation of lipid storage GO:0010888 9.54 IL6 TNF
14 negative regulation of T cell proliferation GO:0042130 9.5 HLA-DRB1 IL10 SFTPD
15 negative regulation of cytokine secretion involved in immune response GO:0002740 9.48 IL10 TNF
16 positive regulation of neuroinflammatory response GO:0150078 9.46 IL6 TNF
17 sequestering of TGFbeta in extracellular matrix GO:0035583 9.37 FBN1 FBN2
18 receptor biosynthetic process GO:0032800 9.26 IL10 TNF
19 response to glucocorticoid GO:0051384 9.13 IL10 IL6 TNF
20 endothelial cell apoptotic process GO:0072577 8.8 BMPR2 IL10 TNF

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.56 IL10 IL6 TNF TNFSF13B
2 protease binding GO:0002020 9.37 COL3A1 TNF
3 platelet-derived growth factor binding GO:0048407 9.32 COL3A1 COL5A1
4 integrin binding GO:0005178 9.26 ADAMTS13 COL3A1 COL5A1 FBN1
5 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 FBN2
6 extracellular matrix structural constituent GO:0005201 8.92 COL3A1 COL5A1 FBN1 FBN2

Sources for Connective Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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