MCID: CNN005
MIFTS: 68

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 6 15 17
Connective Tissue Diseases 54 43 71
Abnormality of Connective Tissue 29 6
Disorder of Connective Tissue 12
Connective Tissue Disorders 42
Connective Tissue Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:65
MeSH 43 D003240
NCIt 49 C26729
SNOMED-CT 67 105969002
UMLS 71 C0009782

Summaries for Connective Tissue Disease

MedlinePlus : 42 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 collagen disease, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Connective Tissue Disease is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Integrin Pathway and ERK Signaling. The drugs Pirfenidone and Budesonide have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and testes, and related phenotypes are cardiovascular system and cellular

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

Wikipedia : 74 A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as... 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 1158)
# Related Disease Score Top Affiliating Genes
1 mixed connective tissue disease 36.1 TNF RNPC3 IL6 BMPR2 ADAMTS13
2 collagen disease 34.4 TGFBR2 FBN1 COL5A1 COL3A1 COL2A1 COL1A2
3 marfan syndrome 34.1 TGFBR2 NOTCH1 LOX FLNA FBN2 FBN1
4 aortic aneurysm, familial thoracic 1 34.1 TGFBR2 SMAD3 NOTCH1 LOX FBN2 FBN1
5 scleroderma, familial progressive 33.6 FBN1 COL1A2 COL1A1 CENPB
6 bone disease 33.5 TNF IL6 FLNA COL2A1 COL1A1
7 weill-marchesani syndrome 33.2 TNF FBN2 FBN1 ADAMTS13
8 arterial tortuosity syndrome 33.1 TGFBR2 SMAD3 FBN1 COL3A1 ACTA2
9 systemic scleroderma 33.0 TNF IL6 FBN1 COL1A2 CENPB
10 pulmonary hypertension 32.8 TNF TGFBR2 SMAD3 IL6 EDNRA BMPR2
11 ehlers-danlos syndrome, arthrochalasia type, 2 32.8 COL1A2 COL1A1
12 pulmonary fibrosis, idiopathic 32.5 TNF SMAD3 LOX IL6 COL3A1 COL1A2
13 hypermobility syndrome 32.5 FBN1 COL5A1 COL3A1
14 ehlers-danlos syndrome 32.2 FLNA FBN2 FBN1 COL5A1 COL3A1 COL1A2
15 aortic aneurysm 32.0 TGFBR2 SMAD3 NOTCH1 LOX IL6 FLNA
16 purpura 32.0 TNF IL6 ADAMTS13
17 orthostatic intolerance 32.0 TGFBR2 SMAD3 FLNA FBN2 FBN1 COL5A1
18 localized scleroderma 32.0 TNF SMAD3 IL6 COL1A1
19 aneurysm 31.9 TGFBR2 SMAD3 NOTCH1 LOX FBN2 FBN1
20 osteoporosis 31.9 TNF SMAD3 LOX IL6 COL2A1 COL1A2
21 brittle bone disorder 31.9 FBN1 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
22 aortic valve disease 1 31.8 TGFBR2 SMAD3 NOTCH1 LOX FLNA FBN2
23 telangiectasis 31.8 FBN1 CENPB BMPR2
24 portal hypertension 31.8 TNF EDNRA BMPR2 ADAMTS13
25 calcinosis 31.8 TNF FBN1 CENPB
26 inguinal hernia 31.7 LOX IL6 FBN1 COL5A1 COL1A1
27 diffuse scleroderma 31.7 COL1A2 COL1A1 CENPB
28 loeys-dietz syndrome 31.7 TGFBR2 SMAD3 FBN2 FBN1 COL5A1 COL3A1
29 aortic disease 31.7 TGFBR2 SMAD3 NOTCH1 LOX IL6 FBN1
30 caffey disease 31.6 COL2A1 COL1A2 COL1A1
31 limited scleroderma 31.5 RNPC3 EDNRA CENPB
32 scoliosis 31.5 TGFBR2 LOX IL6 FLNA FBN2 FBN1
33 heart disease 31.5 TNF NOTCH1 IL6 FLNA FBN1 EDNRA
34 carpal tunnel syndrome 31.4 IL6 COL5A1 COL1A1
35 aortic dissection 31.4 TGFBR2 SMAD3 LOX FBN1 COL3A1 ACTA2
36 varicose veins 31.4 TNF IL6 FBN1 COL3A1
37 tricuspid valve prolapse 31.3 TGFBR2 SMAD3 FBN2 FBN1 COL3A1
38 odontochondrodysplasia 31.3 FLNA FBN1 COL5A1 COL3A1 COL2A1 COL1A2
39 retinal detachment 31.3 TNF LOX IL6 COL2A1
40 placenta disease 31.3 TNF IL6 COL3A1
41 osteoarthritis 31.3 TNF SMAD3 IL6 COL2A1
42 ehlers-danlos syndrome, classic type, 1 31.3 COL5A1 COL3A1 COL1A2 COL1A1
43 leprosy 3 31.2 TNF IL6 FLNA
44 disseminated intravascular coagulation 31.2 TNF IL6 ADAMTS13
45 heritable thoracic aortic disease 31.2 TGFBR2 SMAD3 LOX FBN1 COL3A1 ACTA2
46 aortic valve insufficiency 31.2 TGFBR2 FBN1 ACTA2
47 pelvic organ prolapse 31.1 LOX FBN1 COL3A1 COL1A2 COL1A1
48 cerebrovascular disease 31.1 TNF IL6 ADAMTS13 ACTA2
49 keratoconus 31.1 TNF LOX IL6 FBN1 COL5A1
50 myopia 31.0 FLNA FBN2 FBN1 COL2A1 COL1A1

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:

45 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.54 ACTA2 BMPR2 COL1A1 COL1A2 COL2A1 COL3A1
2 cellular MP:0005384 10.51 BMPR2 CENPB COL1A1 COL1A2 COL2A1 COL3A1
3 growth/size/body region MP:0005378 10.5 BMPR2 CENPB COL1A1 COL1A2 COL2A1 COL3A1
4 immune system MP:0005387 10.47 ADAMTS13 BMPR2 COL1A1 COL1A2 COL2A1 COL3A1
5 behavior/neurological MP:0005386 10.46 BMPR2 COL1A1 COL1A2 COL2A1 EDNRA FBN1
6 hematopoietic system MP:0005397 10.46 ADAMTS13 BMPR2 COL1A1 COL1A2 COL3A1 EDNRA
7 homeostasis/metabolism MP:0005376 10.45 ADAMTS13 BMPR2 COL1A1 COL1A2 COL2A1 COL3A1
8 mortality/aging MP:0010768 10.45 ADAMTS13 BMPR2 CENPB COL1A1 COL1A2 COL2A1
9 integument MP:0010771 10.4 BMPR2 COL1A1 COL1A2 COL3A1 COL5A1 EDNRA
10 digestive/alimentary MP:0005381 10.33 COL1A1 COL2A1 COL3A1 EDNRA FLNA IL6
11 embryo MP:0005380 10.32 BMPR2 COL1A1 COL2A1 COL5A1 EDNRA FBN1
12 craniofacial MP:0005382 10.3 COL1A1 COL2A1 EDNRA FBN1 FBN2 FLNA
13 adipose tissue MP:0005375 10.28 COL1A1 COL1A2 COL2A1 COL3A1 FBN1 FBN2
14 endocrine/exocrine gland MP:0005379 10.27 CENPB COL1A1 EDNRA FBN1 IL6 NOTCH1
15 muscle MP:0005369 10.27 ACTA2 BMPR2 COL1A1 COL1A2 COL3A1 EDNRA
16 nervous system MP:0003631 10.22 BMPR2 COL1A1 COL1A2 COL2A1 EDNRA FBN1
17 liver/biliary system MP:0005370 10.19 COL1A1 COL2A1 COL3A1 FBN2 FLNA IL6
18 normal MP:0002873 10.15 ADAMTS13 BMPR2 CENPB COL1A1 COL1A2 COL2A1
19 limbs/digits/tail MP:0005371 10.05 COL1A1 COL1A2 COL2A1 FBN1 FBN2 SMAD3
20 neoplasm MP:0002006 9.98 COL1A1 IL6 LOX NOTCH1 SMAD3 TGFBR2
21 respiratory system MP:0005388 9.97 BMPR2 COL1A1 COL2A1 COL3A1 EDNRA FBN1
22 renal/urinary system MP:0005367 9.96 BMPR2 COL1A1 COL2A1 EDNRA FBN1 FBN2
23 pigmentation MP:0001186 9.8 ADAMTS13 BMPR2 COL1A1 FBN1 NOTCH1 TGFBR2
24 skeleton MP:0005390 9.8 BMPR2 COL1A1 COL1A2 COL2A1 EDNRA FBN1
25 vision/eye MP:0005391 9.5 ACTA2 ADAMTS13 BMPR2 COL1A1 COL1A2 COL2A1

Drugs & Therapeutics for Connective Tissue Disease

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

(show top 50) (show all 316)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
2
Budesonide Approved Phase 4 51333-22-3 63006 5281004
3
Aminolevulinic acid Approved Phase 4 106-60-5 137
4
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
5
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
6
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
7
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
8
Etanercept Approved, Investigational Phase 4 185243-69-0
9
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
10
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
11
Nitric Oxide Approved Phase 4 10102-43-9 145068
12
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
13
AT-101 Approved, Investigational Phase 4 652-67-5, 90141-22-3 12597
14
Ramipril Approved Phase 4 87333-19-5 5362129
15
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
16
Bisoprolol Approved Phase 4 66722-44-9 2405
17
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
18
leucovorin Approved Phase 4 58-05-9 6006 143
19
Adalimumab Approved Phase 4 331731-18-1 16219006
20
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
21
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
22
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
23
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
24
Mycophenolic acid Approved Phase 4 24280-93-1 446541
25
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
26
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
27
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
28
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
29
Macitentan Approved Phase 4 441798-33-0
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
31 Beraprost Investigational Phase 4 88430-50-6
32 Photosensitizing Agents Phase 4
33 Adrenergic beta-Agonists Phase 4
34 Formoterol Fumarate Phase 4
35 Methyl 5-aminolevulinate Phase 4
36 Vasodilator Agents Phase 4
37 Calcium, Dietary Phase 4
38 Antimetabolites Phase 4
39 Lipid Regulating Agents Phase 4
40 Hypolipidemic Agents Phase 4
41 Phosphodiesterase 3 Inhibitors Phase 4
42 Adrenergic beta-1 Receptor Antagonists Phase 4
43 Neurotransmitter Agents Phase 4
44 Adrenergic Agents Phase 4
45 Sympatholytics Phase 4
46 Adrenergic Antagonists Phase 4
47 Adrenergic beta-Antagonists Phase 4
48 Angiotensin-Converting Enzyme Inhibitors Phase 4
49 Ketorolac Tromethamine Phase 4
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 367)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Randomized Controlled Trial of Pirfenidone in Patients With Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
3 Differences of Small Airways Function Between Chronic Obstructive Pulmonary Disease(COPD) and Asthma-copd Overlap(ACO) Unknown status NCT03563001 Phase 4 Budesonide(160ug) and Formoterol(4.5ug) bid
4 Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study. Unknown status NCT00637065 Phase 4 Bosentan;Placebo
5 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
6 Vasoreactivity Testing With Intravenous Sildenafil in Patients With Precapillary Pulmonary Hypertension (Treatment Optimisation Study) Completed NCT01889966 Phase 4 Sildenafil
7 Time To Efficacy and Onset Of Action Of Linezolid In Skin and Soft Tissue Infections Completed NCT00147511 Phase 4 linezolid
8 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
9 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Pulmonary Arterial Hypertension Children Associated With Left to Right Shunt Congenital Heart Defect Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
10 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
11 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
12 Mini-flared Kelman Tip and Reverse Tip With Torsional Phaco: Prospective Randomized Comparative Study Completed NCT02089698 Phase 4
13 A Phase 4 Trial Assessing the ImPact of Residual Inflammation Detected Via Imaging TEchniques, Drug Levels and Patient Characteristics on the Outcome of Dose TaperIng of Adalimumab in Clinical Remission Rheumatoid ArThritis (RA) Subjects (PREDICTRA) Completed NCT02198651 Phase 4
14 Comparison of Ketorolac Tromethamine 0.4% and Nepafenac 0.1% for the Prevention of Cystoid Macular Edema After Phacoemulsification: Prospective Randomized Double-masked Study Completed NCT02084576 Phase 4 Nepafenac;Ketorolac
15 An Open-label Non-randomized Phase IV Trial of the Clinical Efficacy of Intravenously Administered 1000mg Paracetamol as Antipyretic and Analgesic Medication Completed NCT01070732 Phase 4 Paracetamol
16 The Clinical Efficacy And Subclinical Effects on Arterial STIFFNESS of Bosentan Therapy Added to Usual Care in Patients With Systemic Sclerosis With Digital Ulcers Completed NCT02480335 Phase 4 bosentan
17 A Multicentre Randomised Trial Of Etanercept And Methotrexate To Induce Remission In Early Inflammatory Arthritis Completed NCT01303874 Phase 4 Etanercept (ETN);Placebo
18 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
19 Spherical Aberration and Contrast Sensitivity in Eyes Implanted With Aspheric and Spherical Intraocular Lenses: Clinical Comparative Study Completed NCT00576485 Phase 4
20 Effect of Pioglitazone on Insulin Resistance, Progression of Atherosclerosis and Clinical Course of Coronary Heart Disease Completed NCT03011775 Phase 4 Pioglitazone 15 mg Tablet;Isosorbide Dinitrate 10Mg Tablet;Acetylsalicylic Acid 75Mg Tablet;Bisoprolol Fumarate 2.5 MG Oral Tablet;Rosuvastatin Calcium 20 MG Oral Tablet;ramipril 5 MG
21 Novel Form of Acquired Long QT Syndrome Recruiting NCT04169100 Phase 4 Prednisone
22 Sirolimus in Patients With Connective Tissue Disease Related Thrombocytopenia (CTD-TP): a Single-arm, Open-label Clinical Trial in China Active, not recruiting NCT03688191 Phase 4 Sirolimus
23 MIRACLE (Methotrexate Inadequate Response Patient With Rheumatoid Arthritis Treated by Adalimumab in Combination With Low-dose Methotrexate) Study Active, not recruiting NCT03505008 Phase 4 Methotrexate;Adalimumab
24 Effect of Sacubitril/Valsartan on Right Ventricular Dysfunctioning Patients With Connective Tissue Disease Not yet recruiting NCT04197050 Phase 4 Sacubitril / Valsartan Oral Tablet
25 Mycophenolate Mofetil Versus Cyclosporin A in the Treatment of Primary Biliary Cholangitis-autoimmune Hepatitis Overlap Syndrome Duo to Nonresponse to Standard Therapy Not yet recruiting NCT04376528 Phase 4 Cyclosporin A;Mycophenolate Mofetil
26 Benign Acute Pericarditis: Brief Versus Longer Treatment. Randomized, Multicentric, Double Blind, Non Inferiority Trial Terminated NCT00946907 Phase 4 Aspirin;placebo
27 A Safety and Clinical Efficacy Study Measuring Echocardiographic Composite Comparing Ambrisentan (Letairis®) After a Switch From Bosentan (Tracleer®) or Macintentan (Opsumit®) in Treatment of Pulmonary Arterial Hypertension (PAH) Terminated NCT02885012 Phase 4 Ambrisentan
28 A Pilot Study to Evaluate the Effect of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease Unknown status NCT00864201 Phase 3 bosentan
29 The Safety and Effectiveness of Trimethoprim/Sulfamethoxazole as Pneumocystis Carinii Pneumonia (PCP) Prophylaxis in Patients With Connective Tissue Diseases Unknown status NCT01747278 Phase 2, Phase 3 Trimethoprim/Sulfamethoxazole
30 Double Blind Controlled Trial of Alendronate for the Treatment of Childhood and Adolescent Glucocorticoid-Associated Osteopenia and Osteoporosis Unknown status NCT00209469 Phase 2, Phase 3 alendronate sodium
31 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
32 Phase III Single-blind Randomized Controlled Trial of Bipap Versus CPAP in Overlap Syndrome Unknown status NCT01427673 Phase 3
33 Calcinosis Cutis: Therapeutic Effects of Extracorporeal Shock Wave Therapy (ESWT) Completed NCT01683500 Phase 3
34 Double-Blinded Controlled Trial of Alendronate for the Treatment of Childhood and Adolescent Glucocorticoid- Associated Osteopenia and Osteoporosis Completed NCT00277251 Phase 2, Phase 3 Alendronate
35 A Randomized Multi-Center, Double-Blind, Placebo-Controlled Study of a New Modified-Release Tablet Formulation of Prednisone (Lodotra®) in Patients With Rheumatoid Arthritis Completed NCT00650078 Phase 3 MR prednisone;Placebo
36 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Patients With Systemic Lupus Erythematosus (SLE) Completed NCT01205438 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks
37 A Phase 3, Multicenter, Randomized, Double Blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) Completed NCT01196091 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks;Standard of Care
38 Phase II/III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone in Women With Mild to Moderate Systemic Lupus Erythematosus Completed NCT00004795 Phase 2, Phase 3 dehydroepiandrosterone
39 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
40 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone in Women With Active Systemic Lupus Erythematosus Completed NCT00004662 Phase 3 dehydroepiandrosterone
41 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Safety and Efficacy Study of Sitaxsentan Sodium (Thelin™) Treatment With an Open-Label Bosentan Arm in Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT00080457 Phase 3 sitaxsentan sodium
42 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
43 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
44 Phase III Randomized Study of Collagenase in Patients With Residual Stage Dupuytren's Disease Completed NCT00014742 Phase 3 collagenase
45 Trial of Beta Blocker Therapy (Atenolol) Versus Angiotensin II Receptor Blocker Therapy (Losartan) in Individuals With Marfan Syndrome (A Trial Conducted by the Pediatric Heart Network) Completed NCT00429364 Phase 3 Losartan Potassium;Atenolol
46 Primary Mesh Closure of Abdominal Midline Wounds; a Prospective Randomized Multicenter Trial Completed NCT00761475 Phase 3
47 A Trial of Pamidronate in Children With Osteogenesis Imperfecta Completed NCT00005901 Phase 3 Pamidronate (Aredia)
48 Randomized Study of the Treatment of Primary Immune Thrombocytopenic Purpura (ITP) in Newly Diagnosed Untreated Adult Patients. Comparison of Standard Dose Prednisone Versus High-dose Dexamethasone. Completed NCT00657410 Phase 3 dexamethasone;prednisone
49 Effects of Combined Spinal-epidural Analgesia During Labor on Postpartum Electrophysiological Function of Maternal Pelvic Floor Muscle: a Randomized Controlled Trial Completed NCT02334150 Phase 2, Phase 3 CSEA (ropivocaine and sufentanil)
50 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo

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:

40
Lung, Skin, Testes, Breast, Heart, Bone, Endothelial

Publications for Connective Tissue Disease

Articles related to Connective Tissue Disease:

(show top 50) (show all 9735)
# Title Authors PMID Year
1
Degos cutaneous disease with features of connective tissue disease. 61 54
20375824 2010
2
Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. 61 54
19573590 2009
3
Heterogeneous pathogenic processes of thrombotic microangiopathies in patients with connective tissue diseases. 61 54
19652889 2009
4
Transforming growth factor-beta in systemic sclerosis (scleroderma). 54 61
19482698 2009
5
Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms. 61 54
19341707 2009
6
[Selective inhibition of type A endothelin receptors: a treatment of choice for pulmonary arterial hypertension associated with connective tissue diseases]. 54 61
19081312 2009
7
Selective endothelin A receptor antagonism with sitaxsentan for pulmonary arterial hypertension associated with connective tissue disease. 61 54
17472992 2007
8
Mutations of activin-receptor-like kinase 1 (ALK-1) are not found in patients with pulmonary hypertension and underlying connective tissue disease. 54 61
16941203 2007
9
Bosentan treatment for pulmonary arterial hypertension related to connective tissue disease: a subgroup analysis of the pivotal clinical trials and their open-label extensions. 61 54
16793845 2006
10
Elastic fibres in health and disease. 61 54
16893474 2006
11
Analyses of ADAMTS13 activity and its inhibitor in patients with thrombotic thrombocytopenic purpura secondary to connective tissue diseases: Observations in a single hospital. 61 54
16956441 2006
12
The role of endothelin-1 and selected cytokines in the pathogenesis of Raynaud's phenomenon associated with systemic connective tissue diseases. 54 61
16763543 2006
13
Spontaneous rupture of the colon sigmoid following spontaneous recurrent pneumothorax in a patient with Marfan syndrome. 54 61
16501427 2006
14
Bosentan: a review of its use in pulmonary arterial hypertension and systemic sclerosis. 61 54
16780392 2006
15
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. 54 61
15558324 2005
16
Lack of circulating autoantibodies to bone morphogenetic protein receptor-II or activin receptor-like kinase 1 in mixed connective tissue disease patients with pulmonary arterial hypertension. 54 61
15509626 2005
17
Absence of high-affinity calreticulin autoantibodies in patients with systemic rheumatic diseases and coeliac disease. 54 61
16081363 2005
18
[Pulmonary arterial hypertension]. 54 61
15049592 2004
19
Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation. 61 54
14516151 2003
20
Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis). 54 61
12935979 2003
21
Abnormalities of serum antielastin antibodies in connective tissue diseases. 54 61
12643515 2003
22
[Assessment of serum markers KL-6 and SP-D for interstitial pneumonia associated with connective tissue diseases]. 61 54
12692985 2003
23
Anti-lactoferrin antibodies in patients with connective tissue diseases. 54 61
15272812 2003
24
Mutations of bone morphogenetic protein receptor type II are not found in patients with pulmonary hypertension and underlying connective tissue diseases. 61 54
12384956 2002
25
Autoantibodies directed against the amino-terminal domain I of human calpastatin (ACAST-DI Ab) in connective tissue diseases. High levels of ACAST-DI Ab are associated with vasculitis in lupus. 54 61
12367559 2002
26
Helicobacter pylori infection in connective tissue disorders is associated with high levels of antibodies to mycobacterial hsp65 but not to human hsp60. 54 61
12165033 2002
27
[Results of stapedectomy in osteogenesis imperfecta]. 61 54
12162021 2002
28
Endothelial cell-binding activity of anti-U1-ribonucleoprotein antibodies in patients with connective tissue diseases. 61 54
11703381 2001
29
Autoantibodies to the 27 C-terminal amino acids of calpastatin are detected in a restricted set of connective tissue diseases and may be useful for diagnosis of rheumatoid arthritis in community cases of very early arthritis. 61 54
11600742 2001
30
Distinct autoreactive T cell responses to native and fragmented DNA topoisomerase I: influence of APC type and IL-2. 61 54
11313383 2001
31
Surface expression of a glycolytic enzyme, alpha-enolase, recognized by autoantibodies in connective tissue disorders. 54 61
11169399 2000
32
Fibrillin-1, a calcium binding protein of extracellular matrix. 61 54
11108952 2000
33
Sialochemical markers of salivary gland involvement with Sjögren's syndrome secondary to rheumatoid arthritis and primary biliary cirrhosis. 54 61
11016688 2000
34
Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. 54 61
10739800 2000
35
Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils. 54 61
10687954 2000
36
Extrahepatic manifestations associated with hepatitis C virus infection. A prospective multicenter study of 321 patients. The GERMIVIC. Groupe d'Etude et de Recherche en Medecine Interne et Maladies Infectieuses sur le Virus de l'Hepatite C. 61 54
10670409 2000
37
T cell receptor beta-chain third complementarity-determining region gene usage is highly restricted among Sm-B autoantigen-specific human T cell clones derived from patients with connective tissue disease. 61 54
10211884 1999
38
Up-regulation of intercellular adhesion molecule-1 (ICAM-1), endothelial leucocyte adhesion molecule-1 (ELAM-1) and class II MHC molecules on pulmonary artery endothelial cells by antibodies against U1-ribonucleoprotein. 61 54
10209523 1999
39
Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. 61 54
10090884 1999
40
Comparison between the standard anticardiolipin antibody test and a new phospholipid test in patients with connective tissue diseases. 61 54
10090168 1999
41
Anticardiolipin antibodies after kidney transplantation in patients without connective tissue disease. 61 54
10083086 1999
42
CA repeat polymorphism in the promoter region of the COL1A2 gene. 54 61
10570918 1999
43
NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1. 54 61
9876915 1998
44
Analysis of human T cell and B cell responses against U small nuclear ribonucleoprotein 70-kd, B, and D polypeptides among patients with systemic lupus erythematosus and mixed connective tissue disease. 61 54
9259431 1997
45
The prevalence and clinical associations of anticardiolipin antibodies in a large inception cohort of patients with connective tissue diseases. 54 61
9003103 1996
46
Seroprevalence of Helicobacter pylori infection in patients with connective tissue diseases. 54 61
8865155 1996
47
Antifibrillarin autoantibodies present in systemic sclerosis and other connective tissue diseases interact with similar epitopes. 54 61
7532674 1995
48
Ultrastructure of dentin matrix in heritable dentin defects. 61 54
8553016 1995
49
Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly. 54 61
7622614 1995
50
Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. 61 54
7759096 1995

Variations for Connective Tissue Disease

ClinVar genetic disease variations for Connective Tissue Disease:

6 (show top 50) (show all 515) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His)SNV Pathogenic 29598 rs387906592 10:90701066-90701066 10:88941309-88941309
2 SMAD3 NM_005902.4(SMAD3):c.401-6G>ASNV Pathogenic 213782 rs745672741 15:67457585-67457585 15:67165247-67165247
3 SMAD3 NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)SNV Pathogenic/Likely pathogenic 180524 rs730880214 15:67473780-67473780 15:67181442-67181442
4 FBN1 NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)SNV Pathogenic/Likely pathogenic 16437 rs137854464 15:48717680-48717680 15:48425483-48425483
5 COL12A1 NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs)duplication Likely pathogenic 689549 6:75797359-75797360 6:75087643-75087644
6 FBN1 NM_000138.4(FBN1):c.7774T>G (p.Cys2592Gly)SNV Likely pathogenic 689583 15:48712929-48712929 15:48420732-48420732
7 COL2A1 NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp)SNV Likely pathogenic 547253 rs1555167139 12:48379720-48379720 12:47985937-47985937
8 COL11A1 NM_001854.4(COL11A1):c.4140+3A>TSNV Likely pathogenic 547210 rs1553196515 1:103364494-103364494 1:102898938-102898938
9 COL5A1 NM_001278074.1(COL5A1):c.841del (p.Glu281fs)deletion Likely pathogenic 547278 rs1554787779 9:137620570-137620570 9:134728724-134728724
10 NOTCH1 NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr)SNV Likely pathogenic 547712 rs756434709 9:139409122-139409122 9:136514670-136514670
11 COL2A1 NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)SNV Conflicting interpretations of pathogenicity 547262 rs200993187 12:48369263-48369263 12:47975480-47975480
12 NOTCH1 NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu)SNV Conflicting interpretations of pathogenicity 547717 rs560981171 9:139390962-139390962 9:136496510-136496510
13 COL1A2 NM_000089.3(COL1A2):c.1036-3T>CSNV Conflicting interpretations of pathogenicity 547238 rs370275593 7:94039551-94039551 7:94410239-94410239
14 COL11A2 NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)SNV Conflicting interpretations of pathogenicity 547213 rs375937729 6:33156201-33156201 6:33188424-33188424
15 COL3A1 NM_000090.3(COL3A1):c.3526-10C>TSNV Conflicting interpretations of pathogenicity 547273 rs376171095 2:189873640-189873640 2:189008914-189008914
16 MYLK NM_053025.4(MYLK):c.4620-5C>TSNV Conflicting interpretations of pathogenicity 547560 rs760680632 3:123359356-123359356 3:123640509-123640509
17 MYLK NM_053025.4(MYLK):c.800C>A (p.Thr267Asn)SNV Conflicting interpretations of pathogenicity 547553 rs755451013 3:123453043-123453043 3:123734196-123734196
18 COL11A2 NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)SNV Conflicting interpretations of pathogenicity 547218 rs202032297 6:33143841-33143841 6:33176064-33176064
19 FBN2 NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)SNV Conflicting interpretations of pathogenicity 528399 rs148598779 5:127693085-127693085 5:128357393-128357393
20 MYLK NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe)SNV Conflicting interpretations of pathogenicity 539091 rs200423083 3:123419283-123419283 3:123700436-123700436
21 COL11A1 NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)SNV Conflicting interpretations of pathogenicity 502485 rs55851925 1:103480117-103480117 1:103014561-103014561
22 COL11A1 NM_001854.4(COL11A1):c.2916+3A>GSNV Conflicting interpretations of pathogenicity 507173 rs200515572 1:103431040-103431040 1:102965484-102965484
23 MYH11 NM_002474.3(MYH11):c.3963+6T>CSNV Conflicting interpretations of pathogenicity 465732 rs373371913 16:15818739-15818739 16:15724882-15724882
24 MYH11 NM_002474.3(MYH11):c.4579-14C>TSNV Conflicting interpretations of pathogenicity 516342 rs377410503 16:15814922-15814922 16:15721065-15721065
25 MYLK NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)SNV Conflicting interpretations of pathogenicity 409695 rs199988497 3:123444833-123444833 3:123725986-123725986
26 MYLK NM_053025.4(MYLK):c.5369-10T>GSNV Conflicting interpretations of pathogenicity 415770 rs373584324 3:123337627-123337627 3:123618780-123618780
27 NOTCH1 NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)SNV Conflicting interpretations of pathogenicity 415427 rs201987555 9:139391900-139391900 9:136497448-136497448
28 NOTCH1 NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile)SNV Conflicting interpretations of pathogenicity 409056 rs1022510242 9:139391964-139391964 9:136497512-136497512
29 COL1A2 NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser)SNV Conflicting interpretations of pathogenicity 431901 rs145355907 7:94052290-94052290 7:94422978-94422978
30 NOTCH1 NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg)SNV Conflicting interpretations of pathogenicity 432247 rs201662530 9:139408963-139408963 9:136514511-136514511
31 MYH11 NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile)SNV Conflicting interpretations of pathogenicity 418581 rs138206921 16:15808917-15808917 16:15715060-15715060
32 MYH11 NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)SNV Conflicting interpretations of pathogenicity 450146 rs147710374 16:15811031-15811031 16:15717174-15717174
33 MYLK NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln)SNV Conflicting interpretations of pathogenicity 471713 rs145507832 3:123419622-123419622 3:123700775-123700775
34 MYLK NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr)SNV Conflicting interpretations of pathogenicity 471702 rs143010767 3:123451785-123451785 3:123732938-123732938
35 COL2A1 NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)SNV Conflicting interpretations of pathogenicity 547247 rs201817670 12:48390390-48390390 12:47996607-47996607
36 MYH11 NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile)SNV Conflicting interpretations of pathogenicity 547546 rs151058774 16:15818834-15818834 16:15724977-15724977
37 COL1A1 NM_000088.3(COL1A1):c.3945C>T (p.Ser1315=)SNV Conflicting interpretations of pathogenicity 547233 rs766059440 17:48263738-48263738 17:50186377-50186377
38 COL1A1 NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr)SNV Conflicting interpretations of pathogenicity 547231 rs769571473 17:48264235-48264235 17:50186874-50186874
39 FLNA NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys)SNV Conflicting interpretations of pathogenicity 547382 rs782546714 X:153589789-153589789 X:154361421-154361421
40 MYLK NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)SNV Conflicting interpretations of pathogenicity 561310 rs371814184 3:123359228-123359228 3:123640381-123640381
41 COL11A2 NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)SNV Conflicting interpretations of pathogenicity 561277 rs201076557 6:33143807-33143807 6:33176030-33176030
42 NOTCH1 NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)SNV Conflicting interpretations of pathogenicity 561319 rs763679772 9:139401209-139401209 9:136506757-136506757
43 TGFBR2 NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)SNV Conflicting interpretations of pathogenicity 36859 rs35719192 3:30713794-30713794 3:30672302-30672302
44 COL1A2 NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln)SNV Conflicting interpretations of pathogenicity 17250 rs72658163 7:94049588-94049588 7:94420276-94420276
45 COL1A1 NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser)SNV Conflicting interpretations of pathogenicity 35918 rs193922153 17:48266534-48266534 17:50189173-50189173
46 FBN1 NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)SNV Conflicting interpretations of pathogenicity 36104 rs112084407 15:48725102-48725102 15:48432905-48432905
47 FBN1 NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)SNV Conflicting interpretations of pathogenicity 36060 rs112287730 15:48782174-48782174 15:48489977-48489977
48 FLNA NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)SNV Conflicting interpretations of pathogenicity 561301 rs782090266 X:153594766-153594766 X:154366398-154366398
49 FBN1 NM_000138.5(FBN1):c.2175T>C (p.Asn725=)SNV Conflicting interpretations of pathogenicity 42298 rs140606 15:48789581-48789581 15:48497384-48497384
50 FBN1 NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)SNV Conflicting interpretations of pathogenicity 42338 rs200125037 15:48779347-48779347 15:48487150-48487150

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 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 3
2 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
3 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
4 COSM95520543 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
5 COSM95523461 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
6 COSM95526780 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3

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 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 TGFBR2 FBN2 FBN1 COL5A1 COL3A1 COL2A1
2
Show member pathways
13.3 TNF TGFBR2 SMAD3 NOTCH1 IL6 FLNA
3
Show member pathways
13.19 TNF TGFBR2 SMAD3 NOTCH1 IL6 FLNA
4
Show member pathways
12.93 TNF NOTCH1 IL6 COL2A1 COL1A2 COL1A1
5
Show member pathways
12.92 IL6 FBN2 FBN1 COL5A1 COL3A1 COL2A1
6
Show member pathways
12.82 FLNA COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
7 12.78 TGFBR2 SMAD3 NOTCH1 IL6 EDNRA
8
Show member pathways
12.76 LOX COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
9
Show member pathways
12.63 TGFBR2 COL3A1 COL1A2 COL1A1 ACTA2
10
Show member pathways
12.58 LOX FBN2 FBN1 COL5A1 COL3A1 COL2A1
11
Show member pathways
12.53 TNF TGFBR2 SMAD3 NOTCH1 IL6
12
Show member pathways
12.5 FLNA COL2A1 COL1A2 COL1A1 ACTA2
13 12.29 TNF TGFBR2 SMAD3 IL6
14 12.25 TNF FLNA COL1A2 COL1A1
15 12.12 TNF TGFBR2 SMAD3 IL6
16
Show member pathways
12.09 FBN1 COL2A1 COL1A2 COL1A1
17 11.86 SMAD3 IL6 COL3A1 COL1A1
18 11.84 TNF IL6 COL3A1 COL1A2 COL1A1
19 11.78 TNF TGFBR2 SMAD3 FBN1 BMPR2
20
Show member pathways
11.69 LOX FBN2 FBN1
21
Show member pathways
11.68 TGFBR2 SMAD3 LOX BMPR2
22 11.66 TGFBR2 SMAD3 FLNA ACTA2
23 11.58 TNF TGFBR2 SMAD3
24 11.56 COL3A1 COL2A1 COL1A2 COL1A1
25 11.53 EDNRA COL3A1 COL1A2
26 11.49 COL3A1 COL1A2 COL1A1
27 11.41 TNF SMAD3 IL6 COL1A1
28 11.39 COL5A1 COL3A1 COL1A2
29 11.26 COL3A1 COL1A2 COL1A1
30 11.17 TNF TGFBR2 SMAD3 IL6 COL3A1 COL1A2
31 10.95 TGFBR2 SMAD3 FLNA FBN2 FBN1
32 10.81 TNF IL6 FBN2 FBN1 COL5A1 COL3A1

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 10.13 TNF NOTCH1 LOX IL6 FLNA FBN2
2 extracellular space GO:0005615 10.03 TNF LOX IL6 FBN1 COL5A1 COL3A1
3 collagen-containing extracellular matrix GO:0062023 9.91 FBN2 FBN1 COL5A1 COL3A1 COL2A1 COL1A2
4 receptor complex GO:0043235 9.73 TGFBR2 SMAD3 NOTCH1 BMPR2
5 collagen trimer GO:0005581 9.63 LOX COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
6 endoplasmic reticulum lumen GO:0005788 9.56 IL6 FBN1 COL5A1 COL3A1 COL2A1 COL1A2
7 microfibril GO:0001527 9.46 FBN2 FBN1
8 collagen type I trimer GO:0005584 9.4 COL1A2 COL1A1
9 extracellular matrix GO:0031012 9.28 LOX FBN2 FBN1 COL5A1 COL3A1 COL2A1

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.1 TNF SMAD3 NOTCH1 IL6 ACTA2
2 positive regulation of transcription, DNA-templated GO:0045893 10.09 TNF SMAD3 NOTCH1 IL6 COL1A1 ACTA2
3 in utero embryonic development GO:0001701 9.99 TGFBR2 SMAD3 NOTCH1 EDNRA
4 regulation of cell proliferation GO:0042127 9.98 TNF TGFBR2 NOTCH1 BMPR2
5 heart development GO:0007507 9.93 TGFBR2 NOTCH1 LOX FBN1 EDNRA COL3A1
6 regulation of immune response GO:0050776 9.92 SMAD3 COL3A1 COL2A1 COL1A2 COL1A1
7 heart looping GO:0001947 9.85 TGFBR2 SMAD3 NOTCH1
8 response to mechanical stimulus GO:0009612 9.85 TGFBR2 COL3A1 COL1A1
9 skeletal system development GO:0001501 9.85 SMAD3 FBN1 COL3A1 COL2A1 COL1A2 COL1A1
10 positive regulation of osteoblast differentiation GO:0045669 9.84 IL6 FBN2 BMPR2
11 regulation of blood pressure GO:0008217 9.84 EDNRA COL1A2 ACTA2
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 SMAD3 FBN1 COL1A1
13 positive regulation of smooth muscle cell proliferation GO:0048661 9.83 TNF TGFBR2 IL6
14 transforming growth factor beta receptor signaling pathway GO:0007179 9.83 TGFBR2 SMAD3 COL3A1 COL1A2 BMPR2
15 humoral immune response GO:0006959 9.82 TNF NOTCH1 IL6
16 outflow tract morphogenesis GO:0003151 9.81 TGFBR2 NOTCH1 BMPR2
17 negative regulation of osteoblast differentiation GO:0045668 9.8 TNF SMAD3 NOTCH1
18 negative regulation of fat cell differentiation GO:0045599 9.8 TNF SMAD3 IL6
19 wound healing GO:0042060 9.8 TGFBR2 SMAD3 LOX COL3A1 COL1A1
20 skin development GO:0043588 9.79 COL5A1 COL3A1 COL1A1
21 cellular response to amino acid stimulus GO:0071230 9.78 TNF COL3A1 COL1A2 COL1A1
22 ventricular septum morphogenesis GO:0060412 9.76 TGFBR2 NOTCH1 BMPR2
23 positive regulation of bone mineralization GO:0030501 9.75 SMAD3 FBN2 BMPR2
24 response to steroid hormone GO:0048545 9.74 TGFBR2 LOX COL1A1
25 positive regulation of JAK-STAT cascade GO:0046427 9.73 TNF NOTCH1 IL6
26 platelet activation GO:0030168 9.73 IL6 FLNA COL3A1 COL1A2 COL1A1 ADAMTS13
27 negative regulation of neurogenesis GO:0050768 9.72 TNF NOTCH1 IL6
28 positive regulation of epithelial to mesenchymal transition GO:0010718 9.72 TGFBR2 SMAD3 NOTCH1 IL6 COL1A1
29 positive regulation of neuroinflammatory response GO:0150078 9.71 TNF IL6
30 endocardial cushion development GO:0003197 9.7 NOTCH1 BMPR2
31 skin morphogenesis GO:0043589 9.7 COL1A2 COL1A1
32 embryonic eye morphogenesis GO:0048048 9.7 FBN2 FBN1
33 negative regulation of lipid storage GO:0010888 9.69 TNF IL6
34 cardiac left ventricle morphogenesis GO:0003214 9.69 TGFBR2 NOTCH1
35 activin receptor signaling pathway GO:0032924 9.69 TGFBR2 SMAD3 BMPR2
36 collagen biosynthetic process GO:0032964 9.68 COL5A1 COL1A1
37 endothelial cell apoptotic process GO:0072577 9.68 TNF BMPR2
38 bone trabecula formation GO:0060346 9.67 FBN2 COL1A1
39 atrioventricular valve morphogenesis GO:0003181 9.67 TGFBR2 NOTCH1 BMPR2
40 response to corticosteroid GO:0031960 9.65 NOTCH1 COL1A1
41 regulation of striated muscle tissue development GO:0016202 9.65 SMAD3 LOX
42 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.63 COL2A1 COL1A1
43 collagen fibril organization GO:0030199 9.63 LOX COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
44 glomerular mesangial cell development GO:0072144 9.61 NOTCH1 ACTA2
45 sequestering of TGFbeta in extracellular matrix GO:0035583 9.6 FBN2 FBN1
46 tricuspid valve morphogenesis GO:0003186 9.59 TGFBR2 BMPR2
47 negative regulation of cell proliferation involved in heart valve morphogenesis GO:0003252 9.54 NOTCH1 BMPR2
48 blood vessel development GO:0001568 9.5 TGFBR2 LOX COL5A1 COL3A1 COL1A2 COL1A1
49 extracellular matrix organization GO:0030198 9.32 TNF LOX FBN2 FBN1 COL5A1 COL3A1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 TNF TGFBR2 SMAD3 RNPC3 NOTCH1 LOX
2 metal ion binding GO:0046872 10.22 TGFBR2 SMAD3 NOTCH1 LOX COL5A1 COL3A1
3 integrin binding GO:0005178 9.67 FBN1 COL5A1 COL3A1 ADAMTS13
4 SMAD binding GO:0046332 9.65 TGFBR2 SMAD3 FLNA COL3A1 COL1A2
5 protease binding GO:0002020 9.62 TNF COL3A1 COL1A2 COL1A1
6 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.55 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
7 extracellular matrix structural constituent GO:0005201 9.5 FBN2 FBN1 COL5A1 COL3A1 COL2A1 COL1A2
8 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBN2 FBN1
9 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 BMPR2
10 platelet-derived growth factor binding GO:0048407 9.02 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1

Sources for Connective Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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