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, bone and lung, 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 711)
# 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 32.3 HLA-DRB1 IL10 IL6 TNF
8 systemic lupus erythematosus 32.2 ADAMTS13 APOH HLA-DRB1 IL10 IL6 RNPC3
9 weill-marchesani syndrome 32.1 ADAMTS13 FBN1 FBN2 TNF
10 ehlers-danlos syndrome, classic type, 2 32.0 COL3A1 COL5A1
11 lung disease 32.0 IL10 IL6 SFTPD TNF
12 interstitial lung disease 31.9 IL10 IL6 SFTPD TNF
13 ehlers-danlos syndrome, vascular type 31.8 COL3A1 COL5A1
14 arthritis 31.8 HLA-DRB1 IL10 IL6 TNF
15 scleroderma, familial progressive 31.7 APOH FBN1 RNPC3
16 pneumonia 31.7 IL10 IL6 SFTPD TNF
17 rheumatoid arthritis 31.6 HLA-DRB1 IL10 IL6 TNF TNFSF13B
18 microscopic polyangiitis 31.5 HLA-DRB1 TNF
19 vasculitis 31.5 APOH TNF TNFSF13B
20 systemic scleroderma 31.3 CENPB FBN1 SFTPD
21 meningitis 31.2 IL10 IL6 TNF
22 purpura 31.2 ADAMTS13 APOH IL6 TNF
23 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.0 HSPD1 IL10 TNFSF13B
24 rheumatic disease 30.9 APOH CENPB HLA-DRB1 IL10 RNPC3 TNF
25 extrinsic allergic alveolitis 30.9 IL10 IL6 SFTPD
26 reactive arthritis 30.9 HSPD1 IL10 TNF
27 kawasaki disease 30.9 HSPD1 IL10 IL6 TNF
28 takayasu arteritis 30.8 HLA-DRB1 IL6 TNF
29 portal hypertension 30.8 BMPR2 EDNRA TNF
30 myelitis 30.8 APOH IL6 TNF
31 spondyloarthropathy 30.8 IL10 IL6 TNF
32 neuromyelitis optica 30.8 HLA-DRB1 IL6 TNFSF13B
33 bronchiolitis 30.8 IL10 IL6 TNF
34 autoimmune disease 30.8 APOH HLA-DRB1 HSPD1 IL10 IL6 TNF
35 myasthenia gravis 30.8 IL10 TNF TNFSF13B
36 temporal arteritis 30.8 APOH HLA-DRB1 IL6 TNF
37 juvenile rheumatoid arthritis 30.7 HLA-DRB1 IL6 TNF
38 vascular disease 30.7 APOH BMPR2 HSPD1 IL6 TNF
39 heart disease 30.7 BMPR2 EDNRA IL10 IL6 TNF
40 multiple sclerosis 30.7 HLA-DRB1 IL10 IL6 TNF TNFSF13B
41 behcet syndrome 30.7 APOH HSPD1 IL10 IL6 TNF
42 transverse myelitis 30.7 APOH IL10 IL6 TNF
43 gastroenteritis 30.6 IL10 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 leprosy 3 30.5 HSPD1 IL10 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
Adalimumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 331731-18-1 16219006
8
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 58-05-9 143 6006
9
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1959-05-2, 59-05-2 126941
10
Abatacept Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 332348-12-6 10237
11
Hydroxychloroquine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 118-42-3 3652
12
Sulfasalazine Approved Phase 4,Phase 3,Phase 2,Not Applicable 599-79-1 5359476 5353980
13
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 185243-69-0
14
Leflunomide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 75706-12-6 3899
15
Clindamycin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 18323-44-9 29029
16
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
17
Infliximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 170277-31-3
18
Certolizumab pegol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 428863-50-7
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 2767 441203 84093
40
Etoposide Approved Phase 4 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 50-18-0, 6055-19-2 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 5004)
# 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 Study of Adalimumab to Lower Cardiovascular Risk in RA Patients With Well Controlled Joint Disease Unknown status NCT01893996 Phase 4 Adalimumab;Placebo
12 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
13 Kunxian for the Treatment of Rheumatoid Arthritis Unknown status NCT02764515 Phase 4 Kunxian Capsule;Methotrexate
14 Inhibition of Co-Stimulation in Rheumatoid Arthritis Unknown status NCT02652273 Phase 4 Abatacept
15 Very Early Versus Delayed Etanercept in Patients With RA Unknown status NCT02433184 Phase 4 Etanercept;Methotrexate;Sulfasalazine;Hydroxychloroquine;Etanercept;Methotrexate
16 Study of Iguratimod Plus Methotrexate Compared to Leflunomid Plus Methotrexate in Patients With Rheumatoid Arthritis Unknown status NCT02275299 Phase 4 Iguratimod;Leflunomide;Methotrexate
17 Uncontrolled Study to Evaluate Efficacy of Tocilizumab in Patients With Moderate or Severe Rheumatoid Arthritis Unknown status NCT02087696 Phase 4 Tocilizumab
18 Efficacy Study of Leflunomide to Treat Juvenile Idiopathic Arthritis Unknown status NCT02024334 Phase 4 Leflunomide
19 Effect of Tocilizumab to the Cellular Immune Response to Influenza Vaccine Unknown status NCT01980836 Phase 4
20 Effectiveness of Iguratimod Versus Placebo to Treat Early Rheumatoid Arthritis on MRI Unknown status NCT01893151 Phase 4 Iguratimod;Iguratimod placebo
21 Adjunctive Clindamycin for Cellulitis: C4C Trial. Unknown status NCT01876628 Phase 4 Flucloxacillin and Clindamycin;Flucloxacillin and placebo
22 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
23 Effect of Monoclonal Anti-IL6 Antibody (Tocilizumab) on the Cardiovascular Risk in Patients With Rheumatoid Arthritis Unknown status NCT01752335 Phase 4
24 RHYTHM (Formerly Escape II Myocardium) Unknown status NCT01548768 Phase 4 TNF inhibitors;DMARDs
25 Long-term Efficacy of Iguratimod Alone or Iguratimod in Combination With Methotrexate in Patients With Rheumatoid Arthritis Unknown status NCT01548001 Phase 4 Iguratimod;Methotrexate
26 REstore Working Ability in RheumatoiD Arthritis Unknown status NCT01405326 Phase 4
27 Etanercept and Methotrexate in Patients to Induce Remission in Early Arthritis (EMPIRE) Unknown status NCT01303874 Phase 4 Etanercept (ETN);Placebo
28 IVF Outcome Following Treatment With Ulipristal Acetate for Myomatous Uterus After at Least One IVF Failure Unknown status NCT02601196 Phase 4 Ulipristal acetate
29 Withdrawal of Etanercept After Successful Treatment of Juvenile Idiopathic Arthritis Unknown status NCT01287715 Phase 4 etanercept;etanercept
30 Ultrasonographic Monitoring of Response to Infliximab in Patients With Rheumatoid Arthritis Unknown status NCT01282528 Phase 4
31 Endometrial Preparation Before Operative Hysteroscopy in Premenopausal Women Unknown status NCT02440750 Phase 4 Dienogest;Ulipristal acetate
32 Ulipristal Acetate for the Preoperative Management of Hypoechoic Cellular Leiomyomas Unknown status NCT02361905 Phase 4 ulipristal acetate;Leuprolide acetate
33 Ulipristal Acetate Versus GnRH Analogue Treatment Before Hysteroscopic Resection of Uterine Leiomyoma Unknown status NCT02361879 Phase 4 ulipristal acetate;Leuprolide acetate
34 Comparison of the Effect of Etoricoxib and Diclofenac on Early Morning Activity in Rheumatoid Arthritis (RA) Unknown status NCT01067430 Phase 4 Etoricoxib;Diclofenac
35 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
36 Targeting Synovitis in Early Rheumatoid Arthritis Unknown status NCT00920478 Phase 4
37 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
38 Bucillamine Study of Holding Remission After Infliximab Dose-off Unknown status NCT00716248 Phase 4 bucillamine;methotrexate
39 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
40 Remission Induction in Very Early Rheumatoid Arthritis Unknown status NCT00523692 Phase 4 Etanercept, methotrexate and depomedrone;depemedrone
41 Rheumatoid Arthritis Patients in Training Unknown status NCT00434200 Phase 4
42 High Intensity Focused Ultrasound Ablation Virus Myomectomy to Treat Uterine Fibroids Unknown status NCT01239641 Phase 4
43 Multicenter Randomized Prospective Trial Comparing Methotrexate Alone or in Combination With Adalimumab in Early Arthritis Unknown status NCT00291915 Phase 4 Adalimumab;Methotrexate
44 Comparison of Adalimumab and Infliximab Treatment of Rheumatoid Arthritis Unknown status NCT00216177 Phase 4 Infliximab;Adalimumab
45 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
46 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
47 Vaccination Against Pertussis, Tetanus and Diphtheria in Patients Suffering From Rheumatoid Arthritis Unknown status NCT01301703 Phase 4
48 Heart Function in Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4 TNF blockers (infliximab, adalimumab, etanercept)
49 Efficacy of Intra-articular Collagen Injection in Patients With Knee Joint Pain Compared to Normal Saline Injection Unknown status NCT02539095 Phase 4
50 Comparison of Efficacy and Safety of Microfracture and Modified Microfracture Unknown status NCT02539030 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 30

Anatomical Context for Connective Tissue Disease

MalaCards organs/tissues related to Connective Tissue Disease:

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

Publications for Connective Tissue Disease

Articles related to Connective Tissue Disease:

(show top 50) (show all 2586)
# Title Authors Year
1
Successful treatment of psoriatic arthritis with apremilast in a mixed connective tissue disease patient. ( 30636395 )
2019
2
Insulin resistance vary across connective tissue diseases patients: comparison between rheumatoid arthritis, systemic lupus erythematosus and systemic sclerosis. ( 30652676 )
2019
3
Autologous breast reconstruction surgery outcomes in patients with autoimmune connective tissue disease. ( 30665841 )
2019
4
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
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. ( 30605544 )
2019
6
Supplementing Dermatology Physician Resident Education in Vasculitis and Autoimmune Connective Tissue Disease: A Prospective Study of an Online Curriculum. ( 30624565 )
2019
7
Approach to the Patient With Connective Tissue Disease and Diffuse Lung Disease. ( 30684993 )
2019
8
Breast involvement in mixed connective tissue disease. ( 30701011 )
2019
9
Dendritic Cell Subsets and Effector Function in Idiopathic and Connective Tissue Disease-Associated Pulmonary Arterial Hypertension. ( 30723471 )
2019
10
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
11
Serum KL-6 levels reflect the severity of interstitial lung disease associated with connective tissue disease. ( 30764869 )
2019
12
Preclinical Carotid Atherosclerosis in Patients With Juvenile-Onset Mixed Connective Tissue Disease. ( 30772156 )
2019
13
Association of Autoimmune Connective Tissue Disease and Outcomes in Patients Undergoing Transcatheter Aortic Valve Implantation. ( 30850212 )
2019
14
Invasive mycoses in patients with connective tissue disease from Southern China: clinical features and associated factors. ( 30867045 )
2019
15
Connective Tissue Disease Associated Interstitial Lung Disease - An Acute Exacerbation In Emergency Room. ( 30868797 )
2019
16
Imaging findings of mixed connective tissue disease in children and adolescents: a case series. ( 30875012 )
2019
17
Effect on Cardiac Function of Longstanding Juvenile-onset Mixed Connective Tissue Disease: A Controlled Study. ( 30877222 )
2019
18
Podocytic infolding glomerulopathy: two new cases with connective tissue disease and literature review. ( 30879204 )
2019
19
Mixed connective tissue disease in pregnancy: A case series and systematic literature review. ( 30891090 )
2019
20
Sulfasalazine-Induced Connective Tissue Disease. ( 30896461 )
2019
21
Anca negative pauci-immune crescentic glomerulonephritis and mixed connective tissue disease: a case study. ( 30897193 )
2019
22
Predictors of exercise-induced pulmonary hypertension in patients with connective tissue disease. ( 30904986 )
2019
23
Comparison of clinical courses and mortality of connective tissue disease-associated interstitial pneumonias and chronic fibrosing idiopathic interstitial pneumonias. ( 30913371 )
2019
24
Utility of Anti-DSF70 Antibodies to Predict Connective Tissue Disease in Patients Originally Presenting with Idiopathic Interstitial Pneumonia. ( 30928980 )
2019
25
Mitochondrial DNA mutations and respiratory chain dysfunction in idiopathic and connective tissue disease-related lung fibrosis. ( 30940853 )
2019
26
High cardiovascular risk in mixed connective tissue disease: evaluation of macrovascular involvement and its predictors by aortic pulse wave velocity. ( 30943141 )
2019
27
The role of exosome in autoimmune connective tissue disease. ( 30961395 )
2019
28
Performance of the COPD Assessment Test in patients with connective tissue disease-associated interstitial lung disease. ( 30961943 )
2019
29
A simplified lung ultrasound for the diagnosis of interstitial lung disease in connective tissue disease: a meta-analysis. ( 30975190 )
2019
30
Coexistence of Mixed Connective Tissue Disease and Familial Mediterranean Fever in a Japanese Patient: A Case Report. ( 30996171 )
2019
31
Rituximab in connective tissue disease-associated interstitial lung disease. ( 31016581 )
2019
32
Cellular senescence and senescence-associated secretory phenotype: comparison of idiopathic pulmonary fibrosis, connective tissue disease-associated interstitial lung disease, and chronic obstructive pulmonary disease. ( 31019774 )
2019
33
Cross-cultural adaptation of the connective tissue disease screening questionnaire and development of a Chinese version in a multi-ethnic Asian population. ( 31037459 )
2019
34
Right atrial function for the prediction of prognosis in connective tissue disease-associated pulmonary arterial hypertension: a study with two-dimensional speckle tracking. ( 31037473 )
2019
35
Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells. ( 31068947 )
2019
36
Fatal Myocarditis in an Adolescent Girl with Evolving Connective Tissue Disease. ( 31077005 )
2019
37
Pregnancy outcomes in mixed connective tissue disease: a multicentre study. ( 31079145 )
2019
38
Surgery on a dilated aorta associated with a connective tissue disease or inflammatory vasculitis in children and adolescents. ( 31111802 )
2019
39
Pulmonary Manifestations and Progression of Lung Disease in Juvenile-onset Mixed Connective Tissue Disease. ( 30068767 )
2019
40
Imaging and serum biomarkers in connective tissue disease-associated interstitial lung diseases: correlation between lung ultrasound B-lines and KL-6 levels. ( 30352891 )
2019
41
Differences in clinical features of acute exacerbation between connective tissue disease-associated interstitial pneumonia and idiopathic pulmonary fibrosis. ( 30380910 )
2019
42
Connective Tissue Disease: Current Concepts. ( 30466687 )
2019
43
Cytokine secretion and the risk of depression development in patients with connective tissue diseases. ( 30719813 )
2019
44
Efficacies of atovaquone, pentamidine, and trimethoprim/sulfamethoxazole for the prevention of Pneumocystis jirovecii pneumonia in patients with connective tissue diseases. ( 30711257 )
2019
45
Chronic hydroxychloroquine/chloroquine exposure for connective tissue diseases and risk of Alzheimer's disease: a population-based cohort study. ( 30185414 )
2019
46
Hypersensitivity to Monoclonal Antibodies used for Cancer and Inflammatory/Connective Tissue Diseases. ( 31028896 )
2019
47
Rituximab hypersensitivity and desensitization: a personalized approach to treat cancer and connective tissue diseases. ( 30885801 )
2019
48
Recent Advances in Research Regarding Autoantibodies in Connective Tissue Diseases and Related Disorders. ( 30146596 )
2019
49
Mortality and causes of death across the systemic connective tissue diseases and the primary systemic vasculitides. ( 30281089 )
2019
50
Mechanic hands: clinical and capillaroscopy manifestations of patients with connective tissue diseases presented with and without mechanic hands. ( 30635856 )
2019

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 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh37 Chromosome 7, 94049588: 94049588
2 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh38 Chromosome 7, 94420276: 94420276
3 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh37 Chromosome 10, 90701066: 90701066
4 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh38 Chromosome 10, 88941309: 88941309
5 COL1A1 NM_000088.3(COL1A1): c.2932C> T (p.Pro978Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922153 GRCh37 Chromosome 17, 48266534: 48266534
6 COL1A1 NM_000088.3(COL1A1): c.2932C> T (p.Pro978Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922153 GRCh38 Chromosome 17, 50189173: 50189173
7 COL1A1 NM_000088.3(COL1A1): c.904-9G> T single nucleotide variant Benign/Likely benign rs141726413 GRCh37 Chromosome 17, 48273737: 48273737
8 COL1A1 NM_000088.3(COL1A1): c.904-9G> T single nucleotide variant Benign/Likely benign rs141726413 GRCh38 Chromosome 17, 50196376: 50196376
9 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh37 Chromosome 15, 48800870: 48800870
10 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh38 Chromosome 15, 48508673: 48508673
11 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh37 Chromosome 15, 48782174: 48782174
12 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh38 Chromosome 15, 48489977: 48489977
13 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh37 Chromosome 15, 48726813: 48726813
14 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh38 Chromosome 15, 48434616: 48434616
15 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh37 Chromosome 15, 48725102: 48725102
16 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh38 Chromosome 15, 48432905: 48432905
17 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh37 Chromosome 15, 48722907: 48722907
18 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh38 Chromosome 15, 48430710: 48430710
19 MYH11 NM_002474.2(MYH11): c.2412-9C> A single nucleotide variant Benign/Likely benign rs148682361 GRCh37 Chromosome 16, 15839103: 15839103
20 MYH11 NM_002474.2(MYH11): c.2412-9C> A single nucleotide variant Benign/Likely benign rs148682361 GRCh38 Chromosome 16, 15745246: 15745246
21 MYH11 NM_002474.2(MYH11): c.3652-6C> T single nucleotide variant Benign/Likely benign rs193922630 GRCh37 Chromosome 16, 15820917: 15820917
22 MYH11 NM_002474.2(MYH11): c.3652-6C> T single nucleotide variant Benign/Likely benign rs193922630 GRCh38 Chromosome 16, 15727060: 15727060
23 MYH11 NM_002474.2(MYH11): c.4861A> C (p.Lys1621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34321232 GRCh37 Chromosome 16, 15814100: 15814100
24 MYH11 NM_002474.2(MYH11): c.4861A> C (p.Lys1621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs34321232 GRCh38 Chromosome 16, 15720243: 15720243
25 TGFBR2 NM_003242.5(TGFBR2): c.1119G> A (p.Met373Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35719192 GRCh37 Chromosome 3, 30713794: 30713794
26 TGFBR2 NM_003242.5(TGFBR2): c.1119G> A (p.Met373Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35719192 GRCh38 Chromosome 3, 30672302: 30672302
27 COL5A1 NM_000093.4(COL5A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61735045 GRCh37 Chromosome 9, 137642654: 137642654
28 COL5A1 NM_000093.4(COL5A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61735045 GRCh38 Chromosome 9, 134750808: 134750808
29 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh37 Chromosome 15, 48789581: 48789581
30 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh38 Chromosome 15, 48497384: 48497384
31 FBN1 NM_000138.4(FBN1): c.3514G> A (p.Val1172Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200125037 GRCh37 Chromosome 15, 48779347: 48779347
32 FBN1 NM_000138.4(FBN1): c.3514G> A (p.Val1172Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200125037 GRCh38 Chromosome 15, 48487150: 48487150
33 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh37 Chromosome 6, 33146747: 33146747
34 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh38 Chromosome 6, 33178970: 33178970
35 FLNA NM_001456.3(FLNA): c.237G> C (p.Ala79=) single nucleotide variant Conflicting interpretations of pathogenicity rs200626788 GRCh37 Chromosome X, 153599377: 153599377
36 FLNA NM_001456.3(FLNA): c.237G> C (p.Ala79=) single nucleotide variant Conflicting interpretations of pathogenicity rs200626788 GRCh38 Chromosome X, 154371009: 154371009
37 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh37 Chromosome X, 153589848: 153589848
38 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh38 Chromosome X, 154361480: 154361480
39 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh37 Chromosome X, 153587654: 153587654
40 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh38 Chromosome X, 154359286: 154359286
41 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh37 Chromosome X, 153581714: 153581714
42 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh38 Chromosome X, 154353346: 154353346
43 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh37 Chromosome X, 153593616: 153593616
44 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh38 Chromosome X, 154365248: 154365248
45 FLNA NM_001456.3(FLNA): c.5565C> T (p.Val1855=) single nucleotide variant Benign/Likely benign rs200787122 GRCh37 Chromosome X, 153582380: 153582380
46 FLNA NM_001456.3(FLNA): c.5565C> T (p.Val1855=) single nucleotide variant Benign/Likely benign rs200787122 GRCh38 Chromosome X, 154354012: 154354012
47 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh37 Chromosome X, 153594728: 153594728
48 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh38 Chromosome X, 154366360: 154366360
49 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh37 Chromosome X, 153593497: 153593497
50 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh38 Chromosome X, 154365129: 154365129

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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