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MCID: CNN005
MIFTS: 66

Connective Tissue Disease

Categories: Bone diseases, Cancer diseases, Muscle diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Connective Tissue Disease

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MalaCards integrated aliases for Connective Tissue Disease:

Name: Connective Tissue Disease 12 6 15 17
Connective Tissue Diseases 54 44 70
Abnormality of Connective Tissue 29 6
Disorder of Connective Tissue 12
Connective Tissue Disorders 42
Connective Tissue Disorder 12

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases Bone diseases Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:65
MeSH 44 D003240
NCIt 50 C26729
SNOMED-CT 67 201432001
UMLS 70 C0009782
Sources

Summaries for Connective Tissue Disease

About this section
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 ERK Signaling and Integrin Pathway. The drugs Sirolimus and Budesonide have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are Decreased viability and Decreased viability

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

Wikipedia : 73 A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as... more...

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Related Diseases for Connective Tissue Disease

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

(show top 50) (show all 1099)
# Related Disease Score Top Affiliating Genes
1 mixed connective tissue disease 34.1 RNPC3 EDNRA BMPR2 ADAMTS13
2 collagen disease 33.4 TGFBR2 FBN1 COL5A2 COL5A1 COL3A1 COL2A1
3 marfan syndrome 33.2 TGFBR2 NOTCH1 LOX FBN2 FBN1 COL5A2
4 ehlers-danlos syndrome, vascular type 32.8 FBN1 COL5A1 COL3A1 ACTA2
5 scleroderma, familial progressive 32.8 FBN1 COL1A2 COL1A1 CENPB
6 osteogenesis imperfecta, type vii 32.8 TGFBR2 COL1A2 COL1A1
7 marden-walker syndrome 32.7 FBN2 FBN1
8 weill-marchesani syndrome 32.7 FBN2 FBN1 ADAMTS13
9 osteogenesis imperfecta, type v 32.7 COL1A2 COL1A1
10 arterial tortuosity syndrome 32.6 TGFBR2 FBN1 COL3A1 ACTA2
11 osteogenesis imperfecta, type ii 32.6 COL5A2 COL5A1 COL1A2 COL1A1
12 osteogenesis imperfecta, type iii 32.6 COL5A2 COL1A2 COL1A1 COL11A1
13 pulmonary hypertension 32.5 TGFBR2 SMAD3 EDNRA BMPR2 ACTA2
14 arthrochalasia ehlers-danlos syndrome 32.4 COL1A2 COL1A1
15 plantar fascial fibromatosis 32.4 COL3A1 COL1A1
16 ehlers-danlos syndrome, arthrochalasia type, 2 32.4 COL1A2 COL1A1
17 pulmonary fibrosis, idiopathic 32.2 SMAD3 LOX COL3A1 COL1A2 COL1A1
18 aneurysm 31.8 TGFBR2 SMAD3 NOTCH1 LOX FBN2 FBN1
19 ehlers-danlos syndrome 31.7 FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
20 orthostatic intolerance 31.7 TGFBR2 SMAD3 FBN2 FBN1 COL5A2 COL5A1
21 telangiectasis 31.6 FBN1 CENPB BMPR2
22 aortic aneurysm 31.6 TGFBR2 SMAD3 NOTCH1 LOX FBN2 FBN1
23 brittle bone disorder 31.6 LOX FBN1 COL5A2 COL5A1 COL3A1 COL2A1
24 portal hypertension 31.6 EDNRA COL1A1 BMPR2 ADAMTS13
25 aortic dissection 31.5 TGFBR2 SMAD3 NOTCH1 LOX FBN2 FBN1
26 familial thoracic aortic aneurysm and aortic dissection 31.5 TGFBR2 SMAD3 NOTCH1 LOX FBN1 COL5A2
27 aortic aneurysm, familial thoracic 1 31.4 TGFBR2 SMAD3 NOTCH1 LOX FBN2 FBN1
28 aortic aneurysm, familial thoracic 4 31.4 TGFBR2 SMAD3 LOX FBN1 COL5A2 COL5A1
29 scoliosis 31.4 TGFBR2 SMAD3 LOX FBN2 FBN1 COL5A1
30 diffuse scleroderma 31.4 COL1A2 COL1A1 CENPB
31 inguinal hernia 31.4 LOX FBN1 COL5A1 COL1A1
32 limited scleroderma 31.4 RNPC3 EDNRA CENPB
33 tricuspid valve insufficiency 31.3 FBN1 EDNRA BMPR2
34 aortic disease 31.3 TGFBR2 SMAD3 NOTCH1 LOX FBN1 COL3A1
35 aortic valve disease 1 31.3 TGFBR2 SMAD3 NOTCH1 LOX FBN2 FBN1
36 osteochondrodysplasia 31.3 FBN1 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2
37 loeys-dietz syndrome 31.2 TGFBR2 SMAD3 NOTCH1 FBN2 FBN1 COL5A2
38 ehlers-danlos syndrome, classic type, 1 31.2 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
39 hypermobility syndrome 31.2 COL5A2 COL5A1 COL3A1 COL1A1
40 stickler syndrome 31.1 FBN1 COL5A2 COL5A1 COL2A1 COL1A2 COL1A1
41 heritable thoracic aortic disease 31.1 TGFBR2 SMAD3 LOX FBN1 COL3A1 ACTA2
42 aortic aneurysm, familial abdominal, 1 31.0 TGFBR2 LOX FBN1 COL3A1 ACTA2
43 pelvic organ prolapse 31.0 LOX FBN1 COL3A1 COL1A2 COL1A1
44 myopia 31.0 FBN2 FBN1 COL2A1 COL1A1 COL11A1
45 aortic valve insufficiency 31.0 TGFBR2 FBN2 FBN1 ACTA2
46 spinal stenosis 31.0 COL2A1 COL1A2 COL1A1 COL11A1
47 tricuspid valve prolapse 30.9 TGFBR2 FBN2 FBN1 COL3A1
48 hypermobile ehlers-danlos syndrome 30.9 FBN1 COL5A2 COL5A1 COL1A1
49 classic ehlers-danlos syndrome 30.9 COL5A2 COL5A1 COL1A2 COL1A1
50 ehlers-danlos syndrome, classic type, 2 30.9 COL5A2 COL5A1 COL3A1

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



Diseases related to Connective Tissue Disease
Sources

Symptoms & Phenotypes for Connective Tissue Disease

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UMLS symptoms related to Connective Tissue Disease:


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

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.7 TGFBR2
2 Decreased viability GR00173-A 9.7 BMPR2
3 Decreased viability GR00221-A-1 9.7 BMPR2 COL3A1 TGFBR2
4 Decreased viability GR00221-A-2 9.7 COL3A1
5 Decreased viability GR00221-A-3 9.7 BMPR2 TGFBR2
6 Decreased viability GR00221-A-4 9.7 BMPR2 COL3A1 TGFBR2
7 Decreased viability GR00240-S-1 9.7 COL11A1
8 Decreased viability GR00249-S 9.7 ACTA2 BMPR2 COL11A1 TGFBR2
9 Decreased viability GR00301-A 9.7 BMPR2
10 Decreased viability GR00386-A-1 9.7 COL11A1 NOTCH1
11 Decreased viability GR00402-S-2 9.7 EDNRA FBN1 FBN2 RNPC3 TGFBR2

MGI Mouse Phenotypes related to Connective Tissue Disease:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.51 BMPR2 CENPB COL11A1 COL12A1 COL1A1 COL1A2
2 behavior/neurological MP:0005386 10.48 BMPR2 COL11A1 COL12A1 COL1A1 COL1A2 COL2A1
3 cardiovascular system MP:0005385 10.47 ACTA2 BMPR2 COL1A1 COL1A2 COL2A1 COL3A1
4 cellular MP:0005384 10.44 BMPR2 CENPB COL12A1 COL1A1 COL1A2 COL2A1
5 mortality/aging MP:0010768 10.43 ADAMTS13 BMPR2 CENPB COL11A1 COL12A1 COL1A1
6 immune system MP:0005387 10.36 ADAMTS13 BMPR2 COL11A1 COL1A1 COL1A2 COL2A1
7 embryo MP:0005380 10.35 BMPR2 COL11A1 COL1A1 COL2A1 COL5A1 EDNRA
8 homeostasis/metabolism MP:0005376 10.34 ADAMTS13 BMPR2 COL1A1 COL1A2 COL2A1 COL3A1
9 integument MP:0010771 10.34 BMPR2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
10 hematopoietic system MP:0005397 10.31 ADAMTS13 BMPR2 COL1A1 COL1A2 COL3A1 EDNRA
11 craniofacial MP:0005382 10.28 COL11A1 COL1A1 COL2A1 EDNRA FBN1 FBN2
12 digestive/alimentary MP:0005381 10.23 COL11A1 COL1A1 COL2A1 COL3A1 EDNRA NOTCH1
13 muscle MP:0005369 10.21 ACTA2 BMPR2 COL12A1 COL1A1 COL1A2 COL3A1
14 adipose tissue MP:0005375 10.16 COL1A1 COL1A2 COL2A1 COL3A1 FBN1 FBN2
15 normal MP:0002873 10.15 ADAMTS13 BMPR2 CENPB COL1A1 COL1A2 COL2A1
16 nervous system MP:0003631 10.14 BMPR2 COL11A1 COL1A1 COL1A2 COL2A1 EDNRA
17 limbs/digits/tail MP:0005371 10.13 COL11A1 COL12A1 COL1A1 COL1A2 COL2A1 FBN1
18 hearing/vestibular/ear MP:0005377 10.02 COL11A1 COL1A1 COL2A1 EDNRA FBN2 NOTCH1
19 respiratory system MP:0005388 9.93 BMPR2 COL11A1 COL1A1 COL2A1 COL3A1 COL5A2
20 renal/urinary system MP:0005367 9.91 BMPR2 COL1A1 COL2A1 EDNRA FBN1 FBN2
21 skeleton MP:0005390 9.83 BMPR2 COL11A1 COL12A1 COL1A1 COL1A2 COL2A1
22 pigmentation MP:0001186 9.8 ADAMTS13 BMPR2 COL1A1 FBN1 NOTCH1 TGFBR2
23 vision/eye MP:0005391 9.4 ACTA2 ADAMTS13 BMPR2 COL1A1 COL2A1 COL5A1
Sources

Drugs & Therapeutics for Connective Tissue Disease

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

(show top 50) (show all 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
2
Budesonide Approved Phase 4 51333-22-3 63006 5281004
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
5
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
6
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
7
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
8
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
9
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
10
Mycophenolic acid Approved Phase 4 24280-93-1 446541
11
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
12
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
13
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
14
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
15
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
16
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
17
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
18
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
19
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
20
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
21
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
22
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
23 Adrenergic Agonists Phase 4
24 Neurotransmitter Agents Phase 4
25 Adrenergic Agents Phase 4
26 Vaccines Phase 4
27 Adrenergic beta-Agonists Phase 4
28 Formoterol Fumarate Phase 4
29 Vasodilator Agents Phase 4
30 Phosphodiesterase Inhibitors Phase 4
31 Phosphodiesterase 5 Inhibitors Phase 4
32 Citrate Phase 4
33 Sildenafil Citrate Phase 4 171599-83-0
34 Hormones Phase 4
35 Hormone Antagonists Phase 4
36 Antineoplastic Agents, Hormonal Phase 4
37 Anti-Inflammatory Agents Phase 4
38 glucocorticoids Phase 4
39 Antirheumatic Agents Phase 4
40 Immunologic Factors Phase 4
41 Immunosuppressive Agents Phase 4
42 Anti-Bacterial Agents Phase 4
43 Antibiotics, Antitubercular Phase 4
44 Antifungal Agents Phase 4
45 Anti-Infective Agents Phase 4
46 Antitubercular Agents Phase 4
47 Antihypertensive Agents Phase 4
48 Angiotensin II Type 1 Receptor Blockers Phase 4
49 Angiotensin Receptor Antagonists Phase 4
50 Giapreza Phase 4

Interventional clinical trials:

(show top 50) (show all 125)
# Name Status NCT ID Phase Drugs
1 Sirolimus in Patients With Connective Tissue Disease Related Thrombocytopenia (CTD-TP): a Single-arm, Open-label Clinical Trial in China Unknown status NCT03688191 Phase 4 Sirolimus
2 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
3 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
4 Vasoreactivity Testing With Intravenous Sildenafil in Patients With Precapillary Pulmonary Hypertension (Treatment Optimisation Study) Completed NCT01889966 Phase 4 Sildenafil
5 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
6 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
7 Time To Efficacy and Onset Of Action Of Linezolid In Skin and Soft Tissue Infections Completed NCT00147511 Phase 4 linezolid
8 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
9 Novel Form of Acquired Long QT Syndrome Recruiting NCT04169100 Phase 4 Prednisone
10 Effect of Sacubitril/Valsartan on Right Ventricular Dysfunctioning Patients With Connective Tissue Disease Not yet recruiting NCT04197050 Phase 4 Sacubitril / Valsartan Oral Tablet
11 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
12 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
13 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
14 Phase III Single-blind Randomized Controlled Trial of Bipap Versus CPAP in Overlap Syndrome Unknown status NCT01427673 Phase 3
15 Evaluation of Efficacy and Safety of Rituximab in Association With Mycophenolate Mofetil Versus Mycophenolate Mofetil Alone in Patients With Interstitial Lung Diseases (ILD) Non-responders to a First-line Immunosuppressive Treatment Completed NCT02990286 Phase 3 Rituximab;Placebo of Rituximab;Mycophenolate Mofetil
16 Calcinosis Cutis: Therapeutic Effects of Extracorporeal Shock Wave Therapy (ESWT) Completed NCT01683500 Phase 3
17 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
18 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
19 A Phase 3, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Ralinepag When Added to PAH Standard of Care or PAH Specific Background Therapy in Subjects With WHO Group 1 PAH Recruiting NCT03626688 Phase 3 Ralinepag;Placebo
20 A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Ralinepag to Evaluate Safety and Effects on Exercise Capacity Assessed by CPET in Subjects With WHO Group 1 Pulmonary Hypertension Who Recently Initiated Therapy Recruiting NCT04084678 Phase 3 Ralinepag;Placebo
21 A Phase 3 Open-label Extension (OLE) Study to Evaluate the Long-term Safety and Efficacy of Ralinepag in Subjects With World Health Organization (WHO) Group 1 Pulmonary Arterial Hypertension (PAH) Enrolling by invitation NCT03683186 Phase 3 Ralinepag
22 A Randomized, Double Blind Controlled Trial Comparing Rituximab Against Intravenous Cyclophosphamide in Connective Tissue Disease Associated Interstitial Lung Disease Terminated NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
23 A Study of the Efficacy and Safety of Bardoxolone Methyl in Patients With Connective Tissue Disease-associated Pulmonary Arterial Hypertension Terminated NCT02657356 Phase 3 Placebo capsules;Bardoxolone methyl capsules
24 Clinical Trial of Oral Medication for CTD-ILD Treatment Terminated NCT01424033 Phase 2, Phase 3 N-Acetylcysteine
25 A Phase 3b, Multicenter, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) (Illuminate-X) Terminated NCT01488708 Phase 3 LY2127399;Placebo
26 A Randomized, Open Label Intra-patient Dose Escalation Study With an Untreated Reference Group to Evaluate Safety and Tolerability, Pharmacokinetics, and Pharmacodynamics of Multiple Infusions of BPS804 in Adults With Moderate Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
27 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
28 A Preliminary, Open-label Trial of Losartan Potassium in Participants With Eosinophilic Esophagitis (EoE) With or Without a Connective Tissue Disorder. Completed NCT01808196 Phase 2 Losartan Potassium
29 A Phase 2a Trial Evaluating the Anti-psoriatic Effect of LP0113 Aerosol Spray Compared With Its Vehicle and With Daivobet® Gel, LEO 90100 Aerosol Foam, Betamethasone Dipropionate Aerosol Spray and Calcipotriol Aerosol Spray in the Treatment of Psoriasis Vulgaris Completed NCT02416258 Phase 2 LP0113 aerosol spray;Aerosol spray vehicle;LEO 90100 aerosol foam;Betamethasone dipropionate aerosol spray;Calcipotriol aerosol spray;Daivobet® gel
30 A Phase 2a Trial Evaluating the Anti-psoriatic Effect of LEO 90100 Aerosol Foam Compared to Betesil® Medicated Plaster in the Treatment of Psoriasis Vulgaris Completed NCT02518048 Phase 2 LEO 90100 Aerosol foam;Betesil® 2.25 mg
31 A Double-blinded Crossover Study of Topical Formulation of Nitroglycerine, Vascana®, Versus Matching Vehicle in the Subjective and Physiologic Responses to Controlled Cold Challenge in Subjects With Raynaud's Phenomenon (RP) Secondary to Connective Tissue Disease Completed NCT02688270 Phase 2 Vascana (0.9% nitroglycerin cream);Vehicle (placebo)
32 A Preliminary Open-Label Trial of Losartan Potassium in Participants With Eosinophilic Esophagitis (EoE) With or Without a Connective Tissue Disorder Completed NCT03029091 Phase 2 Losartan Potassium
33 Phase II Study of Prednisolone/Methylprednisolone Absorption in Children With Juvenile Dermatomyositis Completed NCT00004357 Phase 2 Methylprednisolone;Prednisolone
34 Effects of Vitamin D3 Supplementation on Lung Functions and Exercise Tolerance in D3 Deficient Asthma COPD Overlap (ACO) Patients Completed NCT03880734 Phase 2 Cholecalciferol
35 Multicenter Phase II Trial of Oral Type I Bovine Collagen in Scleroderma Completed NCT00005675 Phase 2 Oral bovine type I collagen;Placebo
36 A Pilot Study of Adcetris Treatment in Active Diffuse Cutaneous Systemic Sclerosis (Diffuse Scleroderma) Recruiting NCT03198689 Phase 2 Brentuximab Vedotin
37 A Phase IIa, Double-Blind, Randomised, Intracohort Placebo-Controlled, Multicentre Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of EHP-101 in Patients With Diffuse Cutaneous Systemic Sclerosis Recruiting NCT04166552 Phase 2 Patients will be randomized to receive EHP-101 or Placebo;Patients will be randomized to receive EHP-101 or Placebo
38 A Phase 2 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Efficacy of Ifetroban in Patients With Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension (SSc-PAH) Recruiting NCT02682511 Phase 2 Oral Ifetroban;Oral Placebo
39 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
40 Mesenchymal Stromal Cells Treatment in Lyell Syndrome: A Pilot Phase 1-2 Open Trial Not yet recruiting NCT04711200 Phase 1, Phase 2 Adipose derived stromal cells intravenously injected
41 The ABNL-MARRO 001 Study: A Phase 1/2 Study of Active Myeloid Target Compound Combinations in MDS/MPN Overlap Syndromes. Not yet recruiting NCT04061421 Phase 1, Phase 2 ASTX727;Itacitinib
42 A Pilot Study to Evaluate Topical Sodium Thiosulfate Therapy for Calcinosis Cutis (STS-CALC) Withdrawn NCT01918904 Phase 2 Sodium thiosulfate;Placebo
43 Comparison of Effects of Bi-level Positive Airway Pressure Therapy and Nocturnal Oxygen Therapy on Right and Left Ventricular Hemodynamics in Overlap Syndrome (Co-existent Chronic Obstructive Airway Disease and Obstructive Sleep Apnea) Withdrawn NCT01261377 Phase 1, Phase 2 Oxygen
44 Skin Irritation Test of LEO 80185 Gel (Calcipotriol Hydrate Plus Betamethasone Dipropionate) in Healthy Japanese Subjects Completed NCT02379793 Phase 1 LEO 80185 gel, vehicle, liquid paraffin
45 A Single-Centre, Explorative, Randomised, Investigator-Blinded, Negative-Controlled, Phase I Clinical Trial With Intra-Individual Comparison of Treatments to Assess Steroid Induced Skin Atrophy on Healthy Skin Completed NCT02355639 Phase 1 Clobetasol propionate 0.05 % ointment;Betamethasone dipropionate 0.064 % ointment;Petrolatum ointment
46 Safety and Tolerability of Topically Applied Bovine Lung Surfactant on Intact Skin and Superficial Subepidermal Lesions in Healthy Volunteers Completed NCT02985437 Phase 1 Surfactants;Saline Solution
47 A Randomized, Double-blind, Placebo-controlled, Single-dose, Dose-escalating Study to Evaluate Safety, Tolerability, Pharmacokinetics, Immunogenicity and to Explore the Pharmacodynamics of CDP7657 Administered in Healthy Subjects and in SLE Patients. Completed NCT01093911 Phase 1
48 A Prospective, Randomised, Investigator-Blinded, Vehicle-Controlled, Phase I Clinical Trial With Intra-Individual Comparison of Treatments to Assess the Potential of LEO 130852A Gel to Reduce Steroid Induced Skin Atrophy on Healthy Skin Completed NCT02392130 Phase 1 Clobetasol propionate 0.05% ointment;LEO 130852A gel 1%;LEO 130852A placebo gel
49 A Multicenter, Investigator- and Subject-Blind, Randomized, Placebo-Controlled, Parallel-Group, Repeat-Dose Study to Evaluate the Effect of CDP7657 in Subjects With Active Systemic Lupus Erythematosus Completed NCT01764594 Phase 1
50 Safety/Efficacy of Intra-articular Administration of Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis Completed NCT03337165 Phase 1

Search NIH Clinical Center for Connective Tissue Disease

Cochrane evidence based reviews: connective tissue diseases

Sources

Genetic Tests for Connective Tissue Disease

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Genetic tests related to Connective Tissue Disease:

# Genetic test Affiliating Genes
1 Abnormality of Connective Tissue 29
Sources

Anatomical Context for Connective Tissue Disease

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MalaCards organs/tissues related to Connective Tissue Disease:

40
Skin, Lung, Bone, Endothelial, Thyroid, Liver, Heart
Sources

Publications for Connective Tissue Disease

About this section

Articles related to Connective Tissue Disease:

(show top 50) (show all 10177)
# Title Authors PMID Year
1
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET. 61 42
33408338 2021
2
Histologic features suggesting connective tissue disease in idiopathic pulmonary fibrosis. 61 42
33273612 2020
3
Air pollutants and development of interstitial lung disease in patients with connective tissue disease: a population-based case-control study in Taiwan. 42 61
33372076 2020
4
Degos cutaneous disease with features of connective tissue disease. 61 54
20375824 2010
5
Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. 54 61
19573590 2009
6
Heterogeneous pathogenic processes of thrombotic microangiopathies in patients with connective tissue diseases. 61 54
19652889 2009
7
Transforming growth factor-beta in systemic sclerosis (scleroderma). 61 54
19482698 2009
8
Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms. 54 61
19341707 2009
9
[Selective inhibition of type A endothelin receptors: a treatment of choice for pulmonary arterial hypertension associated with connective tissue diseases]. 61 54
19081312 2009
10
Selective endothelin A receptor antagonism with sitaxsentan for pulmonary arterial hypertension associated with connective tissue disease. 61 54
17472992 2007
11
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
12
Bosentan treatment for pulmonary arterial hypertension related to connective tissue disease: a subgroup analysis of the pivotal clinical trials and their open-label extensions. 54 61
16793845 2006
13
Elastic fibres in health and disease. 61 54
16893474 2006
14
Analyses of ADAMTS13 activity and its inhibitor in patients with thrombotic thrombocytopenic purpura secondary to connective tissue diseases: Observations in a single hospital. 54 61
16956441 2006
15
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
16
Spontaneous rupture of the colon sigmoid following spontaneous recurrent pneumothorax in a patient with Marfan syndrome. 61 54
16501427 2006
17
Bosentan: a review of its use in pulmonary arterial hypertension and systemic sclerosis. 61 54
16780392 2006
18
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. 61 54
15509626 2005
19
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. 61 54
15558324 2005
20
Absence of high-affinity calreticulin autoantibodies in patients with systemic rheumatic diseases and coeliac disease. 54 61
16081363 2005
21
[Pulmonary arterial hypertension]. 54 61
15049592 2004
22
Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation. 61 54
14516151 2003
23
Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis). 54 61
12935979 2003
24
Abnormalities of serum antielastin antibodies in connective tissue diseases. 61 54
12643515 2003
25
[Assessment of serum markers KL-6 and SP-D for interstitial pneumonia associated with connective tissue diseases]. 54 61
12692985 2003
26
Anti-lactoferrin antibodies in patients with connective tissue diseases. 61 54
15272812 2003
27
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
28
Helicobacter pylori infection in connective tissue disorders is associated with high levels of antibodies to mycobacterial hsp65 but not to human hsp60. 61 54
12165033 2002
29
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
30
[Results of stapedectomy in osteogenesis imperfecta]. 54 61
12162021 2002
31
Endothelial cell-binding activity of anti-U1-ribonucleoprotein antibodies in patients with connective tissue diseases. 61 54
11703381 2001
32
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. 54 61
11600742 2001
33
Distinct autoreactive T cell responses to native and fragmented DNA topoisomerase I: influence of APC type and IL-2. 54 61
11313383 2001
34
Surface expression of a glycolytic enzyme, alpha-enolase, recognized by autoantibodies in connective tissue disorders. 54 61
11169399 2000
35
Fibrillin-1, a calcium binding protein of extracellular matrix. 54 61
11108952 2000
36
Sialochemical markers of salivary gland involvement with Sjögren's syndrome secondary to rheumatoid arthritis and primary biliary cirrhosis. 61 54
11016688 2000
37
Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. 61 54
10739800 2000
38
Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils. 61 54
10687954 2000
39
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. 54 61
10670409 2000
40
Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. 54 61
10090884 1999
41
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
42
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
43
Comparison between the standard anticardiolipin antibody test and a new phospholipid test in patients with connective tissue diseases. 54 61
10090168 1999
44
Anticardiolipin antibodies after kidney transplantation in patients without connective tissue disease. 61 54
10083086 1999
45
CA repeat polymorphism in the promoter region of the COL1A2 gene. 54 61
10570918 1999
46
NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1. 61 54
9876915 1998
47
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
48
The prevalence and clinical associations of anticardiolipin antibodies in a large inception cohort of patients with connective tissue diseases. 54 61
9003103 1996
49
Seroprevalence of Helicobacter pylori infection in patients with connective tissue diseases. 54 61
8865155 1996
50
Ultrastructure of dentin matrix in heritable dentin defects. 54 61
8553016 1995
Sources

Variations for Connective Tissue Disease

About this section

ClinVar genetic disease variations for Connective Tissue Disease:

6 (show top 50) (show all 515)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic 29598 rs387906592 GRCh37: 10:90701066-90701066
GRCh38: 10:88941309-88941309
2 SMAD3 NM_005902.4(SMAD3):c.401-6G>A SNV Pathogenic 213782 rs745672741 GRCh37: 15:67457585-67457585
GRCh38: 15:67165247-67165247
3 SMAD3 NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) SNV Pathogenic 180524 rs730880214 GRCh37: 15:67473780-67473780
GRCh38: 15:67181442-67181442
4 TGFBR2 NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) SNV Pathogenic 213934 rs863223852 GRCh37: 3:30729968-30729968
GRCh38: 3:30688476-30688476
5 FBN1 NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) SNV Pathogenic 16437 rs137854464 GRCh37: 15:48717680-48717680
GRCh38: 15:48425483-48425483
6 NOTCH1 NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) SNV Likely pathogenic 547712 rs756434709 GRCh37: 9:139409122-139409122
GRCh38: 9:136514670-136514670
7 COL11A1 NM_001854.4(COL11A1):c.4140+3A>T SNV Likely pathogenic 547210 rs1553196515 GRCh37: 1:103364494-103364494
GRCh38: 1:102898938-102898938
8 FBN1 NM_000138.4(FBN1):c.7774T>G (p.Cys2592Gly) SNV Likely pathogenic 689583 rs1597512636 GRCh37: 15:48712929-48712929
GRCh38: 15:48420732-48420732
9 COL12A1 NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs) Duplication Likely pathogenic 689549 rs1582025807 GRCh37: 6:75797359-75797360
GRCh38: 6:75087643-75087644
10 COL2A1 NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp) SNV Likely pathogenic 547253 rs1555167139 GRCh37: 12:48379720-48379720
GRCh38: 12:47985937-47985937
11 COL5A1 NM_001278074.1(COL5A1):c.841del (p.Glu281fs) Deletion Likely pathogenic 547278 rs1554787779 GRCh37: 9:137620570-137620570
GRCh38: 9:134728724-134728724
12 COL5A2 NM_000393.5(COL5A2):c.1A>G (p.Met1Val) SNV Likely pathogenic 391833 rs563606558 GRCh37: 2:190044330-190044330
GRCh38: 2:189179604-189179604
13 COL5A2 NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) SNV Uncertain significance 547287 rs149203102 GRCh37: 2:189929341-189929341
GRCh38: 2:189064615-189064615
14 COL5A2 NM_000393.5(COL5A2):c.1717-3C>T SNV Uncertain significance 547288 rs760304144 GRCh37: 2:189928762-189928762
GRCh38: 2:189064036-189064036
15 COL5A2 NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) SNV Uncertain significance 155777 rs145404046 GRCh37: 2:189927592-189927592
GRCh38: 2:189062866-189062866
16 COL5A2 NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) SNV Uncertain significance 459742 rs754751410 GRCh37: 2:189916114-189916114
GRCh38: 2:189051388-189051388
17 COL5A2 NM_000393.5(COL5A2):c.3201+14C>T SNV Uncertain significance 255999 rs368713290 GRCh37: 2:189912921-189912921
GRCh38: 2:189048195-189048195
18 COL5A2 NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) SNV Uncertain significance 213156 rs146789395 GRCh37: 2:189909952-189909952
GRCh38: 2:189045226-189045226
19 COL5A2 NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) SNV Uncertain significance 213117 rs199802059 GRCh37: 2:189907963-189907963
GRCh38: 2:189043237-189043237
20 COL5A2 NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser) SNV Uncertain significance 547289 rs1244308550 GRCh37: 2:189922075-189922075
GRCh38: 2:189057349-189057349
21 FBN1 NM_000138.4(FBN1):c.224C>G (p.Pro75Arg) SNV Uncertain significance 547297 rs1555405654 GRCh37: 15:48905230-48905230
GRCh38: 15:48613033-48613033
22 COL5A1 NM_001278074.1(COL5A1):c.2555A>T (p.Asn852Ile) SNV Uncertain significance 213043 rs148146480 GRCh37: 9:137676905-137676905
GRCh38: 9:134785059-134785059
23 COL5A1 NM_001278074.1(COL5A1):c.2802C>T (p.Gly934=) SNV Uncertain significance 547281 rs1554801686 GRCh37: 9:137688222-137688222
GRCh38: 9:134796376-134796376
24 COL5A1 NM_001278074.1(COL5A1):c.3592G>A (p.Gly1198Ser) SNV Uncertain significance 409120 rs372499629 GRCh37: 9:137703347-137703347
GRCh38: 9:134811501-134811501
25 COL5A1 NM_001278074.1(COL5A1):c.4307C>T (p.Pro1436Leu) SNV Uncertain significance 212977 rs752334702 GRCh37: 9:137710578-137710578
GRCh38: 9:134818732-134818732
26 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4954+6G>C SNV Uncertain significance 409095 rs1031138847 GRCh37: 9:137716707-137716707
GRCh38: 9:134824861-134824861
27 COL5A1 NM_001278074.1(COL5A1):c.401G>A (p.Arg134His) SNV Uncertain significance 547276 rs1442400098 GRCh37: 9:137591878-137591878
GRCh38: 9:134700032-134700032
28 COL3A1 NM_000090.3(COL3A1):c.3526-10C>T SNV Uncertain significance 547273 rs376171095 GRCh37: 2:189873640-189873640
GRCh38: 2:189008914-189008914
29 COL3A1 NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) SNV Uncertain significance 161218 rs111840783 GRCh37: 2:189875018-189875018
GRCh38: 2:189010292-189010292
30 COL3A1 NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) SNV Uncertain significance 199690 rs201380807 GRCh37: 2:189849525-189849525
GRCh38: 2:188984799-188984799
31 COL3A1 NM_000090.3(COL3A1):c.1815+5G>A SNV Uncertain significance 195847 rs146652498 GRCh37: 2:189861949-189861949
GRCh38: 2:188997223-188997223
32 COL3A1 NM_000090.3(COL3A1):c.1924-8C>A SNV Uncertain significance 547268 rs1553508534 GRCh37: 2:189862984-189862984
GRCh38: 2:188998258-188998258
33 COL1A2 NM_000089.3(COL1A2):c.3181C>A (p.Pro1061Thr) SNV Uncertain significance 547243 rs1554398544 GRCh37: 7:94056521-94056521
GRCh38: 7:94427209-94427209
34 COL1A2 NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) SNV Uncertain significance 360968 rs139851311 GRCh37: 7:94056984-94056984
GRCh38: 7:94427672-94427672
35 COL1A2 NM_000089.3(COL1A2):c.3710A>G (p.Gln1237Arg) SNV Uncertain significance 547244 rs1554398713 GRCh37: 7:94057788-94057788
GRCh38: 7:94428476-94428476
36 COL2A1 NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser) SNV Uncertain significance 547255 rs1179925303 GRCh37: 12:48376350-48376350
GRCh38: 12:47982567-47982567
37 COL2A1 NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) SNV Uncertain significance 547256 rs925297712 GRCh37: 12:48375941-48375941
GRCh38: 12:47982158-47982158
38 COL2A1 NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) SNV Uncertain significance 252593 rs141423593 GRCh37: 12:48374388-48374388
GRCh38: 12:47980605-47980605
39 COL2A1 NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro) SNV Uncertain significance 547259 rs533540496 GRCh37: 12:48372456-48372456
GRCh38: 12:47978673-47978673
40 COL11A2 NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) SNV Uncertain significance 547222 rs142890313 GRCh37: 6:33135285-33135285
GRCh38: 6:33167508-33167508
41 COL1A1 NM_000088.3(COL1A1):c.1387G>A (p.Ala463Thr) SNV Uncertain significance 547226 rs1555573895 GRCh37: 17:48272156-48272156
GRCh38: 17:50194795-50194795
42 COL1A1 NM_000088.3(COL1A1):c.1456G>A (p.Glu486Lys) SNV Uncertain significance 547227 rs1171968124 GRCh37: 17:48272087-48272087
GRCh38: 17:50194726-50194726
43 COL1A1 NM_000088.3(COL1A1):c.1984-5C>A SNV Uncertain significance 196607 rs66592376 GRCh37: 17:48269390-48269390
GRCh38: 17:50192029-50192029
44 COL1A1 NM_000088.3(COL1A1):c.3778C>T (p.Arg1260Cys) SNV Uncertain significance 547232 rs1555571800 GRCh37: 17:48264037-48264037
GRCh38: 17:50186676-50186676
45 COL1A1 NM_000088.3(COL1A1):c.361G>T (p.Gly121Cys) SNV Uncertain significance 547225 rs904057644 GRCh37: 17:48276787-48276787
GRCh38: 17:50199426-50199426
46 COL1A1 NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) SNV Uncertain significance 218424 rs72667032 GRCh37: 17:48275339-48275339
GRCh38: 17:50197978-50197978
47 COL1A2 NM_000089.3(COL1A2):c.286A>G (p.Met96Val) SNV Uncertain significance 423747 rs763509640 GRCh37: 7:94033874-94033874
GRCh38: 7:94404562-94404562
48 COL1A2 NM_000089.3(COL1A2):c.395G>A (p.Arg132His) SNV Uncertain significance 547235 rs372678526 GRCh37: 7:94034167-94034167
GRCh38: 7:94404855-94404855
49 COL1A2 NM_000089.3(COL1A2):c.779C>T (p.Ala260Val) SNV Uncertain significance 547237 rs1554395967 GRCh37: 7:94038122-94038122
GRCh38: 7:94408810-94408810
50 COL1A2 NM_000089.3(COL1A2):c.1036-3T>C SNV Uncertain significance 547238 rs370275593 GRCh37: 7:94039551-94039551
GRCh38: 7:94410239-94410239

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 COSM95520543 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
4 COSM95523461 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
5 COSM95526780 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
6 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
Sources

Expression for Connective Tissue Disease

About this section
Search GEO for disease gene expression data for Connective Tissue Disease.
Sources

Pathways for Connective Tissue Disease

About this section

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.5 TGFBR2 SMAD3 NOTCH1 FBN2 FBN1 COL5A2
2
Integrin Pathway 63
Show member pathways
 13.24 TGFBR2 FBN2 FBN1 COL5A2 COL5A1 COL3A1
3
Focal Adhesion 36 1
Show member pathways
 12.81 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
4
Collagen chain trimerization 65
Show member pathways
 12.75 LOX COL5A2 COL5A1 COL3A1 COL2A1 COL1A2
5
Phospholipase-C Pathway 63
Show member pathways
 12.59 FBN2 FBN1 COL5A2 COL5A1 COL3A1 COL2A1
6
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.44 COL2A1 COL1A2 COL1A1 ACTA2
7
ECM-receptor interaction 36
Show member pathways
 12.04 FBN1 COL2A1 COL1A2 COL1A1
8
Degradation of the extracellular matrix 65
Show member pathways
 12.02 LOX FBN2 FBN1 COL5A2 COL5A1 COL3A1
9
AGE-RAGE signaling pathway in diabetic complications 36
11.83 TGFBR2 SMAD3 COL3A1 COL1A2 COL1A1
10
Senescence and Autophagy in Cancer 1
11.81 SMAD3 COL3A1 COL1A1
11
TGF-beta signaling pathway (KEGG) 36
11.8 TGFBR2 SMAD3 FBN1 BMPR2
12
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.79 COL3A1 COL1A2 COL1A1
13
Amoebiasis 36
11.78 COL3A1 COL1A2 COL1A1
14
SMAD2/3 MH2 Domain Mutants in Cancer 65
Show member pathways
 11.7 TGFBR2 SMAD3 LOX BMPR2
15
Elastic fibre formation 65
Show member pathways
 11.62 LOX FBN2 FBN1
16
Cell adhesion_ECM remodeling 23
11.56 COL3A1 COL2A1 COL1A2 COL1A1
17
Endothelins 1
11.47 EDNRA COL3A1 COL1A2
18
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.44 COL3A1 COL1A2 COL1A1
19
miRNA targets in ECM and membrane receptors 1
11.39 COL5A2 COL5A1 COL3A1 COL1A2
20
Inflammatory Response Pathway 1
11.23 COL3A1 COL1A2 COL1A1
21
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
11.1 TGFBR2 SMAD3 FBN2 FBN1
22
G-protein signaling_Rap2B regulation pathway 23
10.86 FBN2 FBN1 COL5A2 COL5A1 COL3A1 COL2A1
Sources

GO Terms for Connective Tissue Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.18 NOTCH1 LOX FBN2 FBN1 COL5A2 COL5A1
2 extracellular space GO:0005615 10.13 LOX FBN1 COL5A2 COL5A1 COL3A1 COL2A1
3 collagen-containing extracellular matrix GO:0062023 9.96 FBN2 FBN1 COL5A2 COL5A1 COL3A1 COL2A1
4 endoplasmic reticulum lumen GO:0005788 9.85 FBN1 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2
5 receptor complex GO:0043235 9.76 TGFBR2 SMAD3 NOTCH1 BMPR2
6 basement membrane GO:0005604 9.67 FBN1 COL5A1 COL2A1
7 collagen trimer GO:0005581 9.61 LOX COL5A2 COL5A1 COL3A1 COL2A1 COL1A2
8 microfibril GO:0001527 9.48 FBN2 FBN1
9 collagen type V trimer GO:0005588 9.43 COL5A2 COL5A1
10 collagen type I trimer GO:0005584 9.4 COL1A2 COL1A1
11 extracellular matrix GO:0031012 9.36 LOX FBN2 FBN1 COL5A2 COL5A1 COL3A1

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.97 TGFBR2 SMAD3 NOTCH1 EDNRA
2 regulation of immune response GO:0050776 9.89 SMAD3 COL3A1 COL2A1 COL1A2 COL1A1
3 osteoblast differentiation GO:0001649 9.88 SMAD3 LOX COL1A1
4 lung development GO:0030324 9.87 TGFBR2 NOTCH1 LOX
5 cartilage development GO:0051216 9.86 TGFBR2 COL2A1 COL11A1
6 platelet activation GO:0030168 9.86 COL3A1 COL1A2 COL1A1 ADAMTS13
7 regulation of blood pressure GO:0008217 9.85 EDNRA COL1A2 ACTA2
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.85 TGFBR2 SMAD3 COL3A1 COL1A2
9 heart development GO:0007507 9.85 TGFBR2 NOTCH1 LOX FBN1 EDNRA COL3A1
10 response to mechanical stimulus GO:0009612 9.84 TGFBR2 COL3A1 COL1A1
11 heart looping GO:0001947 9.84 TGFBR2 SMAD3 NOTCH1
12 ossification GO:0001503 9.84 COL5A2 COL2A1 COL1A1 COL11A1
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.82 SMAD3 FBN1 COL1A1
14 heart morphogenesis GO:0003007 9.81 COL5A1 COL2A1 COL11A1
15 cellular response to amino acid stimulus GO:0071230 9.81 COL5A2 COL1A2 COL1A1
16 outflow tract morphogenesis GO:0003151 9.8 TGFBR2 NOTCH1 BMPR2
17 skeletal system development GO:0001501 9.8 SMAD3 FBN1 COL5A2 COL3A1 COL2A1 COL1A2
18 skeletal system morphogenesis GO:0048705 9.77 COL2A1 COL1A1 COL11A1
19 positive regulation of bone mineralization GO:0030501 9.77 SMAD3 FBN2 BMPR2
20 ventricular septum morphogenesis GO:0060412 9.75 TGFBR2 NOTCH1 BMPR2
21 response to steroid hormone GO:0048545 9.74 TGFBR2 LOX COL1A1
22 skin development GO:0043588 9.73 COL5A2 COL5A1 COL3A1 COL1A1
23 wound healing GO:0042060 9.72 TGFBR2 SMAD3 LOX COL3A1 COL1A1
24 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.71 TGFBR2 BMPR2
25 positive regulation of epithelial to mesenchymal transition GO:0010718 9.71 TGFBR2 SMAD3 NOTCH1 COL1A1
26 regulation of epithelial cell proliferation GO:0050678 9.7 SMAD3 NOTCH1
27 supramolecular fiber organization GO:0097435 9.7 COL5A1 COL3A1
28 skin morphogenesis GO:0043589 9.69 COL1A2 COL1A1
29 endocardial cushion development GO:0003197 9.69 NOTCH1 BMPR2
30 cardiac left ventricle morphogenesis GO:0003214 9.69 TGFBR2 NOTCH1
31 embryonic eye morphogenesis GO:0048048 9.68 FBN2 FBN1
32 collagen biosynthetic process GO:0032964 9.68 COL5A1 COL1A1
33 proteoglycan metabolic process GO:0006029 9.67 COL2A1 COL11A1
34 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.66 COL2A1 COL1A1
35 bone trabecula formation GO:0060346 9.65 FBN2 COL1A1
36 response to corticosteroid GO:0031960 9.65 NOTCH1 COL1A1
37 activin receptor signaling pathway GO:0032924 9.65 TGFBR2 SMAD3 BMPR2
38 regulation of striated muscle tissue development GO:0016202 9.64 SMAD3 LOX
39 atrioventricular valve morphogenesis GO:0003181 9.63 TGFBR2 NOTCH1 BMPR2
40 blood vessel development GO:0001568 9.63 TGFBR2 LOX COL5A1 COL1A2 COL1A1 BMPR2
41 glomerular mesangial cell development GO:0072144 9.62 NOTCH1 ACTA2
42 tendon development GO:0035989 9.62 COL5A1 COL11A1
43 sequestering of TGFbeta in extracellular matrix GO:0035583 9.61 FBN2 FBN1
44 tricuspid valve morphogenesis GO:0003186 9.61 TGFBR2 BMPR2
45 collagen fibril organization GO:0030199 9.61 LOX COL5A2 COL5A1 COL3A1 COL2A1 COL1A2
46 eye morphogenesis GO:0048592 9.58 COL5A2 COL5A1
47 negative regulation of endodermal cell differentiation GO:1903225 9.52 COL5A2 COL5A1
48 negative regulation of cell proliferation involved in heart valve morphogenesis GO:0003252 9.51 NOTCH1 BMPR2
49 extracellular matrix organization GO:0030198 9.36 LOX FBN2 FBN1 COL5A2 COL5A1 COL3A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.13 TGFBR2 SMAD3 NOTCH1 LOX COL5A2 COL5A1
2 protease binding GO:0002020 9.67 COL3A1 COL1A2 COL1A1
3 integrin binding GO:0005178 9.67 FBN1 COL5A1 COL3A1 ADAMTS13
4 extracellular matrix structural constituent GO:0005201 9.61 FBN2 FBN1 COL5A2 COL5A1 COL3A1 COL2A1
5 SMAD binding GO:0046332 9.56 TGFBR2 SMAD3 COL5A2 COL1A2
6 platelet-derived growth factor binding GO:0048407 9.55 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
7 proteoglycan binding GO:0043394 9.48 COL5A1 COL2A1
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR2 BMPR2
9 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN2 FBN1
10 transforming growth factor beta-activated receptor activity GO:0005024 9.4 TGFBR2 BMPR2
11 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.23 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
Sources

Sources for Connective Tissue Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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