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MCID: CNN005
MIFTS: 67

Connective Tissue Disease

Categories: Bone diseases, Cancer diseases, Muscle diseases, Rare diseases, Skin diseases
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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 11 14 16 75
Connective Tissue Diseases 53 43 71
Abnormality of Connective Tissue 28 5
Connective Tissue Disorder 11 5
Disorder of Connective Tissue 11
Connective Tissue Disorders 41

Classifications:

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


External Ids:

Disease Ontology 11 DOID:65
MeSH 43 D003240
NCIt 49 C26729
SNOMED-CT 68 201432001
UMLS 71 C0009782
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Summaries for Connective Tissue Disease

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MedlinePlus: 41 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 marfan syndrome 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 Signal Transduction. The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are nervous system and homeostasis/metabolism

Disease Ontology: 11 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.

Wikipedia: 75 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 in the Connective Tissue Disease family:

Rare Hereditary Connective Tissue Disease

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

(show top 50) (show all 1281)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 33.5 TGFBR2 FBN1 COL5A2 COL2A1 ACTA2
2 collagen disease 33.5 TGFBR2 FBN1 COL5A2 COL5A1 COL2A1 ACTA2
3 cutis laxa, autosomal dominant 1 32.9 TGFBR2 PYCR1 FBN1
4 arterial tortuosity syndrome 32.9 TGFBR2 SMAD3 FBN1 COL5A1 ACTA2
5 cutis laxa 32.8 PYCR1 FBN1 COL5A1
6 loeys-dietz syndrome 2 32.7 TGFBR2 SMAD3 FBN1
7 osteogenesis imperfecta, type ii 32.5 COL5A2 COL5A1 COL2A1
8 ehlers-danlos syndrome 32.1 TGFBR2 SMAD3 FBN1 COL5A2 COL5A1 COL2A1
9 osteochondrodysplasia 32.0 WDR19 TRPV4 TRIP11 SOX9 SLC26A2 SHOX
10 scoliosis 31.8 TRPV4 TRIP11 TGFBR2 SOX9 SHOX FGFR3
11 aortic aneurysm 31.7 TGFBR2 SMAD3 NOTCH1 FBN1 ACTA2
12 brittle bone disorder 31.7 SOX9 FGFR3 FBN1 COL9A1 COL5A2 COL5A1
13 osteoarthritis 31.7 SOX9 SMAD3 COL9A1 COL2A1
14 orthostatic intolerance 31.6 TGFBR2 SMAD3 FBN1 COL5A2 COL5A1 ACTA2
15 aortic valve disease 1 31.6 TGFBR2 SOX9 SMAD3 NOTCH1 FBN1 COL5A2
16 aortic aneurysm, familial thoracic 1 31.6 TGFBR2 SMAD3 NOTCH1 FBN1 COL5A2 COL5A1
17 loeys-dietz syndrome 31.5 TGFBR2 SMAD3 NOTCH1 FBN1 COL5A2 COL5A1
18 inguinal hernia 31.5 TGFBR2 PYCR1 FBN1 COL5A1
19 cleft palate, isolated 31.4 WDR19 TGFBR2 SOX9 FGFR3 FBN1 COL9A1
20 brachydactyly 31.4 WDR19 TRPV4 TRIP11 SOX9 SLC26A2 FGFR3
21 aortic aneurysm, familial thoracic 4 31.3 TGFBR2 SMAD3 NOTCH1 FBN1 COL5A2 COL5A1
22 craniosynostosis 31.3 WDR19 TGFBR2 SOX9 SMAD3 FGFR3 FBN1
23 aortic dissection 31.3 SMAD3 FBN1 COL5A2 COL5A1 ACTA2
24 stickler syndrome 31.3 SOX9 FBN1 COL9A1 COL5A2 COL5A1 COL2A1
25 aortic disease 31.2 TGFBR2 SMAD3 FBN1 ACTA2
26 hypermobility syndrome 31.2 FBN1 COL5A2 COL5A1
27 achondroplasia 31.1 SOX9 SHOX FGFR3 FBN1 COL2A1
28 chromosome 2q35 duplication syndrome 31.1 WDR19 SOX9 NEK1 FGFR3 FBN1
29 loeys-dietz syndrome 1 31.1 TGFBR2 SMAD3 FBN1
30 otospondylomegaepiphyseal dysplasia, autosomal dominant 31.0 COL9A1 COL5A2 COL2A1 COL11A1
31 tricuspid valve prolapse 31.0 TGFBR2 FBN1 COL5A2 COL5A1
32 spondyloepiphyseal dysplasia with congenital joint dislocations 31.0 SLC26A2 FGFR3 COL9A1 COL2A1
33 avascular necrosis 31.0 TRPV4 COL2A1
34 retinal detachment 30.9 FBN1 COL9A1 COL2A1 COL11A1
35 loeys-dietz syndrome 5 30.9 TGFBR2 SMAD3 FBN1
36 osteochondrosis 30.9 SOX9 COL9A1 COL2A1
37 hypermobile ehlers-danlos syndrome 30.9 FBN1 COL5A2 COL5A1
38 spinal stenosis 30.9 COL9A1 COL2A1 COL11A1
39 aortic valve insufficiency 30.9 TGFBR2 FBN1 ACTA2
40 pseudoachondroplasia 30.8 SLC26A2 COL9A1 COL2A1
41 ehlers-danlos syndrome, classic type, 2 30.7 COL5A2 COL5A1
42 ectopia lentis 1, isolated, autosomal dominant 30.7 TGFBR2 FBN1
43 chiari malformation 30.7 FGFR3 COL5A2
44 aortic aneurysm, familial abdominal, 1 30.3 TGFBR2 FBN1 ACTA2
45 mixed connective tissue disease 12.0
46 undifferentiated connective tissue disease 11.7
47 pulmonary arterial hypertension associated with connective tissue disease 11.7
48 bone fragility with contractures, arterial rupture, and deafness 11.6
49 emilin-1-related connective tissue disease 11.5
50 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease 11.5

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



Diseases related to Connective Tissue Disease
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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

MGI Mouse Phenotypes related to Connective Tissue Disease:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.38 COL11A1 COL2A1 FBN1 FGFR3 NEK1 NOTCH1
2 homeostasis/metabolism MP:0005376 10.37 COL2A1 COL9A1 FBN1 FGFR3 NEK1 NOTCH1
3 growth/size/body region MP:0005378 10.37 COL11A1 COL2A1 COL5A1 COL5A2 FBN1 FGFR3
4 limbs/digits/tail MP:0005371 10.28 COL11A1 COL2A1 COL9A1 FBN1 FGFR3 NEK1
5 cardiovascular system MP:0005385 10.25 ACTA2 COL11A1 COL2A1 COL5A1 COL5A2 FBN1
6 craniofacial MP:0005382 10.23 COL11A1 COL2A1 FBN1 FGFR3 NEK1 NOTCH1
7 renal/urinary system MP:0005367 10.21 COL2A1 FBN1 FGFR3 NEK1 NOTCH1 SMAD3
8 cellular MP:0005384 10.21 COL2A1 COL9A1 FBN1 FGFR3 NOTCH1 PEX7
9 digestive/alimentary MP:0005381 10.18 COL11A1 COL2A1 FGFR3 NOTCH1 SLC26A2 SMAD3
10 muscle MP:0005369 10.15 ACTA2 FBN1 NOTCH1 PEX7 SOX9 TGFBR2
11 behavior/neurological MP:0005386 10.15 COL2A1 COL5A2 FBN1 FGFR3 NEK1 NOTCH1
12 skeleton MP:0005390 10.13 COL11A1 COL2A1 COL5A2 COL9A1 FBN1 FGFR3
13 hearing/vestibular/ear MP:0005377 10.11 COL11A1 COL2A1 COL9A1 FGFR3 NOTCH1 SOX9
14 respiratory system MP:0005388 10.02 COL11A1 COL2A1 COL5A2 FBN1 FGFR3 NOTCH1
15 vision/eye MP:0005391 10 ACTA2 COL2A1 COL5A1 COL5A2 COL9A1 FGFR3
16 mortality/aging MP:0010768 9.83 COL11A1 COL2A1 COL5A1 COL5A2 FBN1 FGFR3
17 integument MP:0010771 9.32 COL5A1 COL5A2 FBN1 FGFR3 NEK1 NOTCH1
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 141)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
4
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
5
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
6
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
7
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
8
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
9
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
10
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
11
Adalimumab Approved, Experimental Phase 4 331731-18-1
12
Rituximab Approved Phase 4 174722-31-7
13
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
14
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
15
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
16
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
17
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
18
Calcipotriol Approved Phase 4 112965-21-6 5288783
19
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
20
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
21
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
22
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
23
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
24
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
25
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
26 Vaccines Phase 4
27 Antifungal Agents Phase 4
28 Sacubitril and valsartan sodium hydrate drug combination Phase 4
29 Anti-Infective Agents Phase 4
30 Vasodilator Agents Phase 4
31 Phosphodiesterase Inhibitors Phase 4
32 Phosphodiesterase 5 Inhibitors Phase 4
33 Citrate Phase 4
34 Antihypertensive Agents Phase 4
35 Anti-Bacterial Agents Phase 4
36 Antirheumatic Agents Phase 4
37 Antineoplastic Agents, Immunological Phase 4
38 Immunosuppressive Agents Phase 4
39 Immunologic Factors Phase 4
40 Autoantibodies Phase 4
41 Antineoplastic Agents, Hormonal Phase 4
42 Hormones Phase 4
43 Hormone Antagonists Phase 4
44 Anti-Inflammatory Agents, Non-Steroidal Phase 4
45 glucocorticoids Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 Analgesics Phase 4
48 Anti-Inflammatory Agents Phase 4
49 Immunoglobulins Phase 4
50 Antibodies Phase 4

Interventional clinical trials:

(show top 50) (show all 112)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 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
3 Effect of Sacubitril/Valsartan on Right Ventricular Dysfunctioning Patients With Connective Tissue Disease Unknown status NCT04197050 Phase 4 Sacubitril / Valsartan Oral Tablet
4 Vasoreactivity Testing With Intravenous Sildenafil in Patients With Precapillary Pulmonary Hypertension (Treatment Optimisation Study) Completed NCT01889966 Phase 4 Sildenafil
5 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
6 Time To Efficacy and Onset Of Action Of Linezolid In Skin and Soft Tissue Infections Completed NCT00147511 Phase 4 linezolid
7 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
8 Efficacy, Safety and Predictive Indicators of Immunosuppressant Combined With Pirfenidone in the Treatment of Connective Tissue Disease-related Interstitial Lung Disease (CTD-ILD) Recruiting NCT04928586 Phase 4 Pirfenidone;DMARDs
9 Novel Form of Acquired Long QT Syndrome Recruiting NCT04169100 Phase 4 Prednisone
10 Efficacy and Safety of Eltrombopag Combined With Low-dose Rituximab in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies Fail to First-line Treatment: a Prospective, Open-label, Nonrandomized, Multicenter Clinical Trial Recruiting NCT04915482 Phase 4 Combined use of eltrombopag with low-dose rituximab;The best available therapy
11 An Investigator-Initiated, Phase 4, Open-Label, Single-Arm, Single-Center Study Investigating the Residual Disease Memory in Psoriasis Skin During Enstilar® and Narrow-Band Ultraviolet B Therapy: The Mempsolar Study Recruiting NCT05185258 Phase 4 Enstilar;Placebo-vehicle
12 Efficacy, Safety, Immune Function of Pirfenidone in the Treatment of Connetive Tissue Disease -Related Interstitial Lung Disease(CTD-LID) Recruiting NCT05505409 Phase 4 Pirfenidone;glucocorticoid and immunosuppressant
13 Efficacy and Safety of Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies Fail to Eltrombopag or Herombopag Treatment: a Single-center, Prospective, One-arm Clinical Trial Recruiting NCT04993885 Phase 4 Avatrombopag
14 Percutaneous Needle Fasciotomy (PNF) +/- Corticosteroid Injection for Dupuytren's Contracture (DC) Affecting Metacarpophalangeal Joints (MCP) . A Randomized Controlled Trial Not yet recruiting NCT05440240 Phase 4 Corticosteroid injection
15 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
16 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
17 Phase III Single-blind Randomized Controlled Trial of Bipap Versus CPAP in Overlap Syndrome Unknown status NCT01427673 Phase 3
18 A Randomized, Double Blind Controlled Trial Comparing Rituximab Against Intravenous Cyclophosphamide in Connective Tissue Disease Associated Interstitial Lung Disease Completed NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
19 Calcinosis Cutis: Therapeutic Effects of Extracorporeal Shock Wave Therapy (ESWT) Completed NCT01683500 Phase 3
20 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
21 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
22 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
23 COvid-19 Vaccine Booster in Immunocompromised Rheumatic Diseases Recruiting NCT05236491 Phase 2, Phase 3
24 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
25 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
26 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
27 Clinical Trial of Oral Medication for CTD-ILD Treatment Terminated NCT01424033 Phase 2, Phase 3 N-Acetylcysteine
28 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
29 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 Cream (placebo)
30 Multicenter Phase II Trial of Oral Type I Bovine Collagen in Scleroderma Completed NCT00005675 Phase 2 Oral bovine type I collagen;Placebo
31 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
32 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
33 Phase II Study of Prednisolone/Methylprednisolone Absorption in Children With Juvenile Dermatomyositis Completed NCT00004357 Phase 2 Methylprednisolone;Prednisolone
34 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
35 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
36 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
37 A Multi-center, Randomized, Participant- and Investigator- Blinded, Placebo-controlled, Parallel Group Basket Study to Evaluate the Safety, Tolerability and Efficacy of MHV370 in Participants With Sjögren's Syndrome or Mixed Connective Tissue Disease Recruiting NCT04988087 Phase 2 MHV370;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 A Phase 2b, Double-Blind, Placebo-Controlled Study to Evaluate Peresolimab in Adult Participants With Moderately-to-Severely Active Rheumatoid Arthritis Recruiting NCT05516758 Phase 2 Peresolimab;Placebo
40 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
41 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
42 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
43 Safety/Efficacy of Intra-articular Administration of Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis Completed NCT03337165 Phase 1
44 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
45 A Phase I Study to Evaluate the Safety of Allogeneic Bone Marrow Derived Mesenchymal Stem Cells for Interstitial Lung Disease in Patients With Connective Tissue Disorders Completed NCT03929120 Phase 1
46 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
47 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
48 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
49 A Phase I-II Open- Label Study to Assess the Safety, Tolerability, and Preliminary Efficacy of a Single Intravenous Dose of Autologous Adipose Stem Cell (Adult Human) to Subjects With Refractory Rheumatoid Arthritis, Relapsing Systemic Lupus Erythematosus or Sharp's Syndrome Terminated NCT02741362 Phase 1
50 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752

Search NIH Clinical Center for Connective Tissue Disease

Cochrane evidence based reviews: connective tissue diseases

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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 28
Sources

Anatomical Context for Connective Tissue Disease

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Organs/tissues related to Connective Tissue Disease:

MalaCards : Skin, Bone, Lung, Heart, Bone Marrow, T Cells, Breast
Sources

Publications for Connective Tissue Disease

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Articles related to Connective Tissue Disease:

(show top 50) (show all 15601)
# Title Authors PMID Year
1
Identification and characterization of lysophosphatidylcholine 14:0 as a biomarker for drug-induced lung disease. 62 41
36396675 2022
2
Study on syndrome rules of stagnated heat in liver and stomach of non-erosive reflux disease based on microecology of tongue coating. 41
36343090 2022
3
Inflammatory responses in SARS-CoV-2 associated Multisystem Inflammatory Syndrome and Kawasaki Disease in children: An observational study. 41
36449533 2022
4
Identifying the structure of the active sites of human recombinant prolidase. 53 62
19415262 2010
5
Degos cutaneous disease with features of connective tissue disease. 53 62
20375824 2010
6
Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports. 53 62
19879983 2010
7
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. 53 62
19714363 2010
8
Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. 53 62
19573590 2009
9
Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. 53 62
19751346 2009
10
Heterogeneous pathogenic processes of thrombotic microangiopathies in patients with connective tissue diseases. 53 62
19652889 2009
11
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 53 62
19533785 2009
12
Transforming growth factor-beta in systemic sclerosis (scleroderma). 53 62
19482698 2009
13
Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms. 53 62
19341707 2009
14
[Selective inhibition of type A endothelin receptors: a treatment of choice for pulmonary arterial hypertension associated with connective tissue diseases]. 53 62
19081312 2009
15
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. 53 62
19161152 2009
16
Early impairment of left ventricular long-axis systolic function demonstrated by reduced atrioventricular plane displacement in patients with Marfan syndrome. 53 62
18296719 2008
17
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 53 62
18435798 2008
18
The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. 53 62
18471089 2008
19
Should pregnancy be considered a risk factor for aortic dissection? Two cases of acute aortic dissection following cesarean section in non-Marfan nor bicuspid aortic valve patients. 53 62
18446126 2008
20
Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. 53 62
18595676 2008
21
Association of cutis laxa and genital prolapse: a case report. 53 62
17453126 2007
22
Selective endothelin A receptor antagonism with sitaxsentan for pulmonary arterial hypertension associated with connective tissue disease. 53 62
17472992 2007
23
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. 53 62
17568394 2007
24
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. 53 62
17492313 2007
25
Marfan syndrome: clinical diagnosis and management. 53 62
17487218 2007
26
Mutations of activin-receptor-like kinase 1 (ALK-1) are not found in patients with pulmonary hypertension and underlying connective tissue disease. 53 62
16941203 2007
27
Progress in the methodological strategies for the detection in real samples of desmosine and isodesmosine, two biological markers of elastin degradation. 53 62
17390614 2007
28
Role of CCN2/CTGF/Hcs24 in bone growth. 53 62
17280894 2007
29
Familial cervical artery dissections: clinical, morphologic, and genetic studies. 53 62
17053184 2006
30
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family. 53 62
17142620 2006
31
Bosentan treatment for pulmonary arterial hypertension related to connective tissue disease: a subgroup analysis of the pivotal clinical trials and their open-label extensions. 53 62
16793845 2006
32
Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1. 53 62
18377530 2006
33
Elastic fibres in health and disease. 53 62
16893474 2006
34
Analyses of ADAMTS13 activity and its inhibitor in patients with thrombotic thrombocytopenic purpura secondary to connective tissue diseases: Observations in a single hospital. 53 62
16956441 2006
35
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 53 62
16705691 2006
36
The role of endothelin-1 and selected cytokines in the pathogenesis of Raynaud's phenomenon associated with systemic connective tissue diseases. 53 62
16763543 2006
37
Spontaneous rupture of the colon sigmoid following spontaneous recurrent pneumothorax in a patient with Marfan syndrome. 53 62
16501427 2006
38
Mutation analysis of the FBN1 gene in patients with Marfan syndrome. 53 62
16930007 2006
39
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. 53 62
16930010 2006
40
Bosentan: a review of its use in pulmonary arterial hypertension and systemic sclerosis. 53 62
16780392 2006
41
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 53 62
15979919 2005
42
Increased expression of type I collagen induced by microfibril-associated glycoprotein 2: novel mechanistic insights into the molecular basis of dermal fibrosis in scleroderma. 53 62
15934076 2005
43
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 53 62
15666309 2005
44
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. 53 62
15509626 2005
45
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. 53 62
15558324 2005
46
Tissue-specific expression and regulation of the alternatively-spliced forms of lysyl hydroxylase 2 (LH2) in human kidney cells and skin fibroblasts. 53 62
15694128 2005
47
Absence of high-affinity calreticulin autoantibodies in patients with systemic rheumatic diseases and coeliac disease. 53 62
16081363 2005
48
Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity. 53 62
16342915 2005
49
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. 53 62
15546004 2004
50
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). 53 62
15389701 2004
Sources

Variations for Connective Tissue Disease

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ClinVar genetic disease variations for Connective Tissue Disease:

5 (show top 50) (show all 1364)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PYCR1 NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) SNV Pathogenic
 68789 rs121918375 GRCh37: 17:79892546-79892546
GRCh38: 17:81934670-81934670
2 SMAD3 NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) SNV Pathogenic
 180524 rs730880214 GRCh37: 15:67473780-67473780
GRCh38: 15:67181442-67181442
3 SOX9 NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter) SNV Pathogenic
 2510 rs80338688 GRCh37: 17:70120318-70120318
GRCh38: 17:72124177-72124177
4 SLC26A2 NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) DEL Pathogenic
 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
5 COL2A1 NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) SNV Pathogenic
 17361 rs121912870 GRCh37: 12:48369754-48369754
GRCh38: 12:47975971-47975971
6 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic
 30703 rs387906980 GRCh37: 4:39233563-39233563
GRCh38: 4:39231943-39231943
7 COL2A1 NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) SNV Pathogenic
 873513 rs1939205327 GRCh37: 12:48377212-48377212
GRCh38: 12:47983429-47983429
8 FBN1 NM_000138.5(FBN1):c.2670C>A (p.Cys890Ter) SNV Pathogenic
 1343082 GRCh37: 15:48787327-48787327
GRCh38: 15:48495130-48495130
9 PEX7 NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) SNV Pathogenic
 370682 rs763514968 GRCh37: 6:137147545-137147545
GRCh38: 6:136826407-136826407
10 NEK1 NM_001199397.3(NEK1):c.214+1G>A SNV Pathogenic
 266055 rs1049502301 GRCh37: 4:170523158-170523158
GRCh38: 4:169602007-169602007
11 COL9A1 NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter) SNV Pathogenic
 161449 rs189754995 GRCh37: 6:70965078-70965078
GRCh38: 6:70255375-70255375
12 FBN1 NM_000138.5(FBN1):c.7429C>T (p.Gln2477Ter) SNV Pathogenic
 1702405 GRCh37: 15:48717590-48717590
GRCh38: 15:48425393-48425393
13 TRIP11 NM_004239.4(TRIP11):c.1735C>T (p.Gln579Ter) SNV Pathogenic
 1702497 GRCh37: 14:92472585-92472585
GRCh38: 14:92006241-92006241
14 COL2A1 NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu) SNV Pathogenic
 1702527 GRCh37: 12:48378354-48378354
GRCh38: 12:47984571-47984571
15 COL2A1 NM_001844.5(COL2A1):c.2248G>A (p.Gly750Arg) SNV Pathogenic
 1702530 GRCh37: 12:48376338-48376338
GRCh38: 12:47982555-47982555
16 FBN1 NM_000138.5(FBN1):c.2294-1G>T SNV Pathogenic
 419500 rs1064793914 GRCh37: 15:48788423-48788423
GRCh38: 15:48496226-48496226
17 COL2A1 NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) SNV Pathogenic
 426404 rs1085307608 GRCh37: 12:48379594-48379594
GRCh38: 12:47985811-47985811
18 FBN1 NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr) SNV Pathogenic
 431935 rs1555399144 GRCh37: 15:48787328-48787328
GRCh38: 15:48495131-48495131
19 FBN1 NM_000138.5(FBN1):c.8599del (p.Gln2867fs) DEL Pathogenic
 1708349 GRCh37: 15:48703204-48703204
GRCh38: 15:48411007-48411007
20 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic
 29598 rs387906592 GRCh37: 10:90701066-90701066
GRCh38: 10:88941309-88941309
21 SMAD3 NM_005902.4(SMAD3):c.401-6G>A SNV Pathogenic
 213782 rs745672741 GRCh37: 15:67457585-67457585
GRCh38: 15:67165247-67165247
22 TGFBR2 NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) SNV Pathogenic
 213934 rs863223852 GRCh37: 3:30729968-30729968
GRCh38: 3:30688476-30688476
23 FBN1 NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) SNV Pathogenic
 16437 rs137854464 GRCh37: 15:48717680-48717680
GRCh38: 15:48425483-48425483
24 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
25 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
26 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
27 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
28 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic
 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
29 SLC26A2 NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Pathogenic
 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
30 FGFR3 NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) SNV Pathogenic
 994395 rs397515514 GRCh37: 4:1808988-1808988
GRCh38: 4:1807261-1807261
31 FBN1 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) SNV Pathogenic
 200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
32 FBN1 NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) SNV Likely Pathogenic
 200045 rs794728223 GRCh37: 15:48762843-48762843
GRCh38: 15:48470646-48470646
33 FBN1 NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg) SNV Likely Pathogenic
 519707 rs1555397557 GRCh37: 15:48764841-48764841
GRCh38: 15:48472644-48472644
34 COL2A1 NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp) SNV Likely Pathogenic
 1702531 GRCh37: 12:48375924-48375924
GRCh38: 12:47982141-47982141
35 COL2A1 NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser) SNV Likely Pathogenic
 1702528 GRCh37: 12:48376920-48376920
GRCh38: 12:47983137-47983137
36 TRIP11 NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter) SNV Likely Pathogenic
 1702496 GRCh37: 14:92480664-92480664
GRCh38: 14:92014320-92014320
37 COL2A1 NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu) SNV Likely Pathogenic
 1702526 GRCh37: 12:48379518-48379518
GRCh38: 12:47985735-47985735
38 TRPV4 NM_021625.5(TRPV4):c.2146G>A (p.Ala716Thr) SNV Likely Pathogenic
 1702504 GRCh37: 12:110226267-110226267
GRCh38: 12:109788462-109788462
39 FBN1 NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) SNV Likely Pathogenic
 430150 rs1131691804 GRCh37: 15:48755320-48755320
GRCh38: 15:48463123-48463123
40 NKX3-2 NM_001189.4(NKX3-2):c.94_100dup (p.Pro34fs) DUP Likely Pathogenic
 1702471 GRCh37: 4:13545938-13545939
GRCh38: 4:13544314-13544315
41 SLC26A2 NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs) INSERT Likely Pathogenic
 1702483 GRCh37: 5:149360641-149360642
GRCh38: 5:149981078-149981079
42 COL2A1 NM_001844.5(COL2A1):c.1267-2A>G SNV Likely Pathogenic
 1702508 GRCh37: 12:48380961-48380961
GRCh38: 12:47987178-47987178
43 COL2A1 NM_001844.5(COL2A1):c.604_609+2del DEL Likely Pathogenic
 1702380 GRCh37: 12:48390329-48390336
GRCh38: 12:47996546-47996553
44 COL2A1 NM_001844.5(COL2A1):c.4317+1G>A SNV Likely Pathogenic
 1702379 GRCh37: 12:48367871-48367871
GRCh38: 12:47974088-47974088
45 COL2A1 NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp) SNV Likely Pathogenic
 1702377 GRCh37: 12:48371854-48371854
GRCh38: 12:47978071-47978071
46 COL2A1 NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys) SNV Likely Pathogenic
 1702376 GRCh37: 12:48371882-48371882
GRCh38: 12:47978099-47978099
47 COL2A1 NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg) SNV Likely Pathogenic
 1702375 GRCh37: 12:48372127-48372127
GRCh38: 12:47978344-47978344
48 COL2A1 NM_001844.5(COL2A1):c.2680-1G>A SNV Likely Pathogenic
 1702374 GRCh37: 12:48373348-48373348
GRCh38: 12:47979565-47979565
49 COL2A1 NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala) SNV Likely Pathogenic
 1702373 GRCh37: 12:48374416-48374416
GRCh38: 12:47980633-47980633
50 LOC107652445, SHOX NM_000451.4(SHOX):c.348del (p.Lys116fs) DEL Likely Pathogenic
 1702478 GRCh37: X:595421-595421
GRCh38: X:634686-634686

Cosmic variations for Connective Tissue Disease:

8
# 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 5
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

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

Pathways for Connective Tissue Disease

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

(show all 28)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.51 ACTA2 COL11A1 COL2A1 COL5A1 COL5A2 COL9A1
2
Signal Transduction 66
13.38 WDR19 TGFBR2 SOX9 SMAD3 NOTCH1 FGFR3
3
Integrin Pathway 64
Show member pathways
 13.3 TGFBR2 FBN1 COL9A1 COL5A2 COL5A1 COL2A1
4
PI3K-Akt signaling pathway 74
Show member pathways
 12.85 COL11A1 COL2A1 COL5A1 COL5A2 COL9A1 FGFR3
5
Phospholipase-C Pathway 64
Show member pathways
 12.82 FGFR3 FBN1 COL9A1 COL5A2 COL5A1 COL2A1
6
Signaling by Receptor Tyrosine Kinases 66
12.74 FGFR3 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
7
Collagen chain trimerization 66
Show member pathways
 12.71 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
8
Extracellular matrix organization 66
Show member pathways
 12.58 FBN1 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
9
MET promotes cell motility 66
Show member pathways
 12.3 FBN1 COL5A2 COL5A1 COL2A1 COL11A1
10
Non-integrin membrane-ECM interactions 66
Show member pathways
 12.1 COL5A2 COL5A1 COL2A1 COL11A1
11
ECM proteoglycans 66
Show member pathways
 12.02 FBN1 COL9A1 COL5A2 COL5A1 COL2A1
12
TGF-beta receptor signaling in skeletal dysplasias 74
Show member pathways
 11.87 TGFBR2 SMAD3 FBN1
13
NCAM signaling for neurite out-growth 66
Show member pathways
 11.85 COL9A1 COL5A2 COL5A1 COL2A1
14
TGF-beta receptor signaling activates SMADs 66
Show member pathways
 11.79 TGFBR2 SMAD3 FBN1
15
Neural crest differentiation 74
11.78 COL2A1 FGFR3 NOTCH1 SOX9
16
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.77 SOX9 COL2A1 ACTA2
17
Neural Stem Cells and Lineage-specific Markers 65
11.68 SOX9 NOTCH1 FGFR3
18
Signaling by PDGF 66
Show member pathways
 11.67 COL9A1 COL5A2 COL5A1 COL2A1
19
Burn wound healing 74
11.65 SMAD3 FGFR3 FBN1
20
Head and neck squamous cell carcinoma 74
11.63 TGFBR2 NOTCH1 FGFR3
22
Angiotensin II receptor type 1 pathway 74
11.16 TGFBR2 SMAD3 ACTA2
23
Integrins in angiogenesis 61
11.11 TGFBR2 COL5A2 COL5A1 COL2A1 COL11A1
24
Hypothesized pathways in pathogenesis of cardiovascular disease 74
11.08 TGFBR2 SMAD3 FBN1
25
Canonical and non-canonical TGF-B signaling 74
10.86 TGFBR2 SMAD3
26
G-protein signaling_Rap2B regulation pathway 22
10.82 FGFR3 FBN1 COL9A1 COL5A2 COL5A1 COL2A1
27
NOTCH1 regulation of endothelial cell calcification 74
10.8 NOTCH1 FGFR3
28
Syndecan-1-mediated signaling events 61
10.5 FGFR3 COL5A2 COL5A1 COL2A1 COL11A1
Sources

GO Terms for Connective Tissue Disease

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 10.15 FBN1 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
2 endoplasmic reticulum lumen GO:0005788 10.1 FBN1 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
3 extracellular matrix GO:0031012 10.03 COL11A1 COL2A1 COL5A1 COL5A2 COL9A1 FBN1
4 basement membrane GO:0005604 9.85 FBN1 COL9A1 COL5A1 COL2A1 ACTA2
5 collagen type V trimer GO:0005588 9.71 COL5A2 COL5A1
6 collagen trimer GO:0005581 9.43 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
7 collagen type XI trimer GO:0005592 9.23 COL5A2 COL5A1 COL2A1 COL11A1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 chondrocyte differentiation GO:0002062 10.08 SOX9 FGFR3 COL2A1
2 negative regulation of osteoblast differentiation GO:0045668 10.08 SOX9 SMAD3 NOTCH1
3 positive regulation of epithelial to mesenchymal transition GO:0010718 9.99 TGFBR2 SMAD3 NOTCH1
4 heart morphogenesis GO:0003007 9.98 COL5A1 COL2A1 COL11A1
5 embryonic cranial skeleton morphogenesis GO:0048701 9.95 SMAD3 TGFBR2 WDR19
6 endochondral ossification GO:0001958 9.93 PEX7 FGFR3 COL2A1
7 proteoglycan metabolic process GO:0006029 9.92 COL2A1 COL11A1
8 negative regulation of biomineral tissue development GO:0070168 9.92 SOX9 NOTCH1
9 collagen fibril organization GO:0030199 9.92 COL5A2 COL5A1 COL2A1 COL11A1
10 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.91 TRPV4 COL2A1
11 extracellular matrix organization GO:0030198 9.9 SOX9 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
12 negative regulation of photoreceptor cell differentiation GO:0046533 9.88 NOTCH1 SOX9
13 anterior head development GO:0097065 9.86 SOX9 COL2A1
14 ossification GO:0001503 9.86 COL11A1 COL2A1 COL5A2 SLC26A2 SOX9
15 positive regulation of extracellular matrix assembly GO:1901203 9.85 SOX9 SMAD3
16 cartilage condensation GO:0001502 9.85 SOX9 COL2A1 COL11A1
17 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.84 TRIP11 SOX9
18 glomerular mesangial cell development GO:0072144 9.83 NOTCH1 ACTA2
19 eye morphogenesis GO:0048592 9.81 COL5A2 COL5A1
20 tendon development GO:0035989 9.8 COL5A1 COL11A1
21 otic vesicle development GO:0071599 9.74 COL2A1 SOX9
22 growth plate cartilage chondrocyte growth GO:0003430 9.73 TGFBR2 SOX9
23 negative regulation of endodermal cell differentiation GO:1903225 9.71 COL5A2 COL5A1
24 cartilage development GO:0051216 9.56 TRIP11 TGFBR2 SOX9 COL2A1 COL11A1
25 skeletal system development GO:0001501 9.44 SOX9 SMAD3 SHOX FGFR3 FBN1 COL5A2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.73 FBN1 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
2 SMAD binding GO:0046332 9.55 TGFBR2 SMAD3 COL5A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL9A1 COL5A2 COL5A1 COL2A1 COL11A1
Sources

Sources for Connective Tissue Disease

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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