MCID: CLL015
MIFTS: 49

Collagen Disease

Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Collagen Disease

MalaCards integrated aliases for Collagen Disease:

Name: Collagen Disease 11 14 75
Collagen Diseases 53 43 71
Collagen Disorder 11 75

Classifications:



External Ids:

Disease Ontology 11 DOID:854
MeSH 43 D003095
NCIt 49 C27204
SNOMED-CT 68 268048008
UMLS 71 C0009326

Summaries for Collagen Disease

Disease Ontology: 11 A connective tissue disease that characterized by connective tissue disease that has material basis in inheritable defects in collagen.

MalaCards based summary: Collagen Disease, also known as collagen diseases, is related to systemic scleroderma and scleroderma, familial progressive. An important gene associated with Collagen Disease is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Acetaminophen and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia 75 Collagen disease: Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid... more...

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

Related Diseases for Collagen Disease

Diseases in the Collagen Disease family:

Type Ii Collagen Disorders

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

(show top 50) (show all 462)
# Related Disease Score Top Affiliating Genes
1 systemic scleroderma 31.1 SNRNP70 FBN1 COL1A2 COL1A1
2 scleroderma, familial progressive 30.9 FBN1 COL1A2 COL1A1 CD36
3 vasculitis 30.8 VWF THBD SERPINA3 APOH
4 raynaud disease 30.7 VWF THBD SNRNP70 APOH
5 ehlers-danlos syndrome 30.7 TNXB SLC39A13 SERPINA3 PLOD1 FBN1 ELN
6 antiphospholipid syndrome 30.5 VWF THBD APOH
7 purpura 30.5 VWF THBD APOH
8 localized scleroderma 30.5 SNRNP70 FBN1 COL1A2 COL1A1
9 respiratory failure 30.4 VWF THBD SFTPD SERPINA3
10 pulmonary fibrosis 30.3 SFTPD ELN COL1A2 COL1A1 CD36
11 vascular disease 30.3 VWF THBD FBN1 ELN COL3A1 APOH
12 otosclerosis 30.2 COL1A2 COL1A1 CD36
13 transient cerebral ischemia 30.1 VWF SERPINA3 APOH
14 libman-sacks endocarditis 30.1 SNRNP70 APOH
15 larsen syndrome 30.1 COL2A1 CHST14 B4GALT7
16 aortic valve insufficiency 30.1 VWF FBN1 ELN
17 telangiectasis 30.0 SNRNP70 FBN1 ELN
18 glaucoma, primary open angle 30.0 SERPINA3 FBN1 ELN COL5A1
19 thrombotic thrombocytopenic purpura 30.0 VWF THBD CD36 APOH
20 thrombophilia due to thrombin defect 30.0 VWF THBD PLOD1 APOH
21 peripheral vascular disease 30.0 VWF THBD SERPINA3
22 thrombosis 30.0 VWF THBD SERPINA3 APOH
23 open-angle glaucoma 30.0 FBN1 ELN CD36
24 atherosclerosis susceptibility 30.0 VWF THBD ELN CD36
25 diffuse scleroderma 30.0 SNRNP70 COL1A1
26 aortitis 30.0 FBN1 ELN
27 spondyloepiphyseal dysplasia with congenital joint dislocations 30.0 COL2A1 CHST14 B4GALT7
28 varicose veins 29.9 VWF THBD FBN1 ELN COL3A1
29 intraocular pressure quantitative trait locus 29.9 SERPINA3 FBN1 ELN
30 connective tissue disease 29.8 COL3A1 COL2A1 COL1A2 COL1A1 CD36 APOH
31 distal arthrogryposis 29.8 PLOD1 FBN1 ELN COL1A2 COL1A1 CHST14
32 interstitial lung disease 2 29.7 SFTPD SERPINA3 ELN COL3A1 COL1A2 COL1A1
33 marfan syndrome 29.7 FBN1 ELN COL5A2 COL3A1 COL2A1 COL1A2
34 hypertension, essential 29.7 VWF THBD SERPINA3 FBN1 ELN COL3A1
35 lipoprotein quantitative trait locus 29.6 VWF THBD SERPINA3 FBN1 ELN
36 orthostatic intolerance 29.6 TNXB PLOD1 FBN1 ELN COL5A2 COL5A1
37 osteochondrodysplasia 29.2 SLC39A13 PLOD1 FBN1 ELN COL5A2 COL5A1
38 brittle bone disorder 29.0 TNXB SLC39A13 PLOD1 FBN1 ELN COL5A2
39 disseminated eosinophilic collagen disease 11.3
40 alpha-2-deficient collagen disease 11.2
41 pierre robin syndrome associated with collagen disease 11.2
42 hypereosinophilic syndrome 11.1
43 mixed connective tissue disease 11.0
44 temporal arteritis 10.9
45 eisenmenger syndrome 10.4 VWF THBD
46 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
47 high bone mass osteogenesis imperfecta 10.4 COL1A2 COL1A1
48 thrombophilia 10.4 VWF THBD APOH
49 nonbacterial thrombotic endocarditis 10.4 VWF APOH
50 subclavian artery aneurysm 10.4 FBN1 ELN

Graphical network of the top 20 diseases related to Collagen Disease:



Diseases related to Collagen Disease

Symptoms & Phenotypes for Collagen Disease

GenomeRNAi Phenotypes related to Collagen Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 APOH B4GALT7 CD36 CHST14 COL1A1 COL1A2
2 no effect GR00402-S-2 10.18 APOH B4GALT7 CD36 CHST14 COL1A1 COL1A2

MGI Mouse Phenotypes related to Collagen Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 APOH CD36 CHST14 COL1A1 COL1A2 COL2A1
2 growth/size/body region MP:0005378 10.13 CD36 CHST14 COL1A1 COL1A2 COL2A1 COL3A1
3 cardiovascular system MP:0005385 10.1 CD36 CHST14 COL1A1 COL1A2 COL2A1 COL3A1
4 mortality/aging MP:0010768 9.86 APOH CD36 CHST14 COL1A1 COL1A2 COL2A1
5 respiratory system MP:0005388 9.76 COL1A1 COL2A1 COL3A1 COL5A2 ELN FBN1
6 integument MP:0010771 9.44 CD36 CHST14 COL1A1 COL1A2 COL3A1 COL5A1

Drugs & Therapeutics for Collagen Disease

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

(show top 50) (show all 135)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
4
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
7
Lactitol Approved, Investigational Phase 4 585-86-4 157355
8
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
9
Abatacept Approved Phase 4 332348-12-6
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11 Anti-Inflammatory Agents Phase 4
12 Analgesics Phase 4
13 Antipyretics Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
16 Hydrocortisone 17-butyrate 21-propionate Phase 4
17 Sodium Chloride Symporter Inhibitors Phase 4
18 diuretics Phase 4
19 Gentamicins Phase 4
20 Folic Acid Antagonists Phase 4
21 Folate Phase 4
22 Vitamin B9 Phase 4
23 Vitamin B Complex Phase 4
24 Antimetabolites Phase 4
25 Dermatologic Agents Phase 4
26 Antirheumatic Agents Phase 4
27 Immunologic Factors Phase 4
28 Pharmaceutical Solutions Phase 4
29 Immune Checkpoint Inhibitors Phase 4
30
Rivaroxaban Approved Phase 3 366789-02-8 9875401
31
Alendronic acid Approved Phase 3 121268-17-5, 66376-36-1 2088
32
Etanercept Approved, Investigational Phase 3 185243-69-0
33
Cyclobenzaprine Approved Phase 3 303-53-7 2895
34
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181
35
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
36
Alfacalcidol Approved, Nutraceutical Phase 3 41294-56-8 5282181
37
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
38 Antineoplastic Agents, Immunological Phase 2, Phase 3
39 Factor Xa Inhibitors Phase 3
40 HIV Protease Inhibitors Phase 3
41 Anticoagulants Phase 3
42 Serine Proteinase Inhibitors Phase 3
43 Antithrombins Phase 3
44 Antithrombin III Phase 3
45
protease inhibitors Phase 3
46 Gastrointestinal Agents Phase 3
47 Vitamins Phase 3
48 Trace Elements Phase 3
49 Calciferol Phase 3
50 Hydroxycholecalciferols Phase 3

Interventional clinical trials:

(show top 50) (show all 225)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Combined Pneumococcal Conjugate and Polysaccharide Vaccination in Inflammatory Rheumatic Disease. Impact of Antirheumatic Treatment on Antibody Response. Completed NCT03762824 Phase 4
3 Acetaminophen for Mood and Memory Changes Associated With Prednisone Therapy Completed NCT00377364 Phase 4 Drug: Acetaminophen, Drug: Placebo
4 Immunogenicity and Safety of Influenza A/H3N2 Vaccine in Patients With Rheumatologic Diseases Completed NCT03540823 Phase 4
5 Patient Self-administration of Cortisol for Cortisol-responding Disorders in Men and Women Over the Age of 17, Demonstration of Double-blind Trial Results Completed NCT03558971 Phase 4 Cortisol
6 A Prospective, Randomised, Controlled, Single Centre, Blinded Study of the Wear Characteristics of Two Polyethylene Bearing Surfaces, Enduron vs. Marathon Completed NCT00208442 Phase 4
7 Prospective Cohort Study of the Influence of Age, Underlying Disease and Immunosuppression on Vaccine Responses to Influenza A H1N1/09 Immunization in High-risk Patients. Completed NCT01022905 Phase 4
8 A Prospective, Randomised, Uncontrolled, Single-Centre, Post-Market Surveillance Study To Evaluate The Performance Of SmartSet® HV and SmartSet® GHV Bone Cements In Primary Cemented Total Hip Arthroplasty(THA) Completed NCT00872066 Phase 4
9 Abatacept to Silence Anti-citrullinated Protein Antibody-expressing B Cells in Rheumatoid Arthritis (ASCARA). Completed NCT03492658 Phase 4 Abatacept;Methotrexate
10 The COvid19 VaccinE Response and Co-Administration in Rheumatology Patients (COVER-CoAd) Recruiting NCT05543642 Phase 4
11 EFFECTS OF ABATACEPT ON THE PROGRESSION TO RHEUMATOID ARTHRITIS IN PATIENTS WITH PALINDROMIC RHEUMATISM (PALABA) Recruiting NCT03669367 Phase 4 Abatacept Injection;hydroxycloroquina
12 Immunogenicity and Safety of the CoronaVac Vacccine in Patients With Autoimmune Rheumatic Diseases and People Living With HIV/AIDS Active, not recruiting NCT04754698 Phase 4
13 Safety and Immunogenicity of a Recombinant Subunit Herpes Zoster Vaccine in Patients With Rheumatic Diseases Undergoing Immunosuppressive or Biologic/Targeted DMARD Therapies: a Double-blind Randomized Placebo-controlled Trial Not yet recruiting NCT04748939 Phase 4
14 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle™ Acetabular Cup Prosthesis With a Ceramic-on-ceramic Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Terminated NCT00872222 Phase 4
15 Randomised, Controlled, Prospective, Multi-Centre, Post Market Surveillance Study Comparing a Ceramic-on-Metal Bearing and a Metal-on-Metal Bearing in Subjects Requiring Primary Total Hip Arthroplasty for Non-Inflammatory Degenerative Joint Disease Terminated NCT00873444 Phase 4
16 Prospective, Uncontrolled, Multi-Centre, Post-Marketing Surveillance Study to Evaluate the Long-Term Performance of Summit Tapered Hip in Cementless Total Hip Arthroplasty Terminated NCT00208390 Phase 4
17 Prospective Multi-Centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-Term Performance of the DePuy ASR Hip System in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty Terminated NCT00208377 Phase 4
18 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup Prosthesis With a Metal on Metal Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Terminated NCT00208364 Phase 4
19 Prospective Single-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of the DePuy ASR™ Hip in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty Terminated NCT00872794 Phase 4
20 Prospective, International Multi-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of a Large Metal-on-Metal (MoM) Bearing Comprising a DePuy ASR™ Cup in Conjunction With Either a DePuy ASR™ Hip Resurfacing Femoral Component or a DePuy ASR™ XL Head in Subjects With Indications Suitable for Either a Primary Resurfacing Arthroplasty or Primary Total Hip Arthroplasty Terminated NCT00872547 Phase 4
21 Prospective, Uncontrolled, Two-centre, RSA, Post-market Surveillance Study to Evaluate the Stability of the C-Stem™ AMT Femoral Component in Primary Total Hip Arthroplasty. Terminated NCT00872573 Phase 4
22 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup System With a Metal on Enduron Polyethylene Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Withdrawn NCT00208429 Phase 4
23 Double-Blind, Parallel-group Comparison, Investigators Initiated Phase II Clinical Trial of IDEC-C2B8 (Rituximab) in Patients With Systemic Sclerosis Completed NCT04274257 Phase 2, Phase 3 Double-Blind Placebo;Double-Blind Rituximab
24 Medically Ill Patient Assessment of Rivaroxaban Versus Placebo in Reducing Post-Discharge Venous Thrombo-Embolism Risk Completed NCT02111564 Phase 3 Rivaroxaban, 10 mg;Rivaroxaban, 7.5 mg;Placebo
25 Prevention of Glucocorticoid-Induced Osteoporosis in Patients With Rheumatic Diseases. The STOP-Study: a Randomized Placebo Controlled Trial With Alendronate Versus Alfacalcidol. Completed NCT00138983 Phase 3 Alendronate versus alfacalcidol (1-alpha OH vitamin D)
26 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia Completed NCT02436096 Phase 3 TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
27 DOES ETANERCEPT INFLUENCE TWEAK MODULATION OF INFLAMMATION DURING INFLAMMATORY RHEUMATISMS (PSORIATIC ARTHRITIS AND RHEUMATOID ARTHRITIS)? Completed NCT02164214 Phase 3 etanercept Treatment
28 COvid-19 Vaccine Booster in Immunocompromised Rheumatic Diseases Recruiting NCT05236491 Phase 2, Phase 3
29 COVID-19 Vaccine in Immunosuppressed Adults With Autoimmune Diseases Active, not recruiting NCT04806113 Phase 3
30 Clinical and Radiographic Evaluation to Compare a Polished and Non-polished Collared Stem and a Polished and Non Polished Collarless Stem in Primary Total Hip Replacement Terminated NCT00208351 Phase 3
31 A Multi-centre, Randomised, Parallel Group, Controlled Study to Compare the Performance of the Future Hip Against Three Currently Used Implants in Total Hip Replacement Terminated NCT00208468 Phase 3
32 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study To Evaluate The EFFIcacy and Safety of TNX-102 SL Tablets Taken Daily At Bedtime In Patients With FibRoMyalgia Terminated NCT02829814 Phase 3 TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
33 GnRH-a for Ovarian Protection During CYC Therapy for Rheumatic Diseases Terminated NCT01257802 Phase 3 depot leuprolide acetate 3.75 mg;Placebo
34 Efficacy and Safety of Vaccination Against Influenza H1N1 in Patients With Rheumatoid Arthritis, Systemic Lupus Erythematosus, Psoriatic Arthritis and Ankylosing Spondylitis Treated With Immunomodulatory Drugs Unknown status NCT01006681 Phase 2
35 Intraarticular Application of Opioids Versus Glucocorticosteroids Versus Placebo in Rheumatoid Arthritis Unknown status NCT00244153 Phase 1, Phase 2 intraarticular morphine;intraarticular dexamethasone
36 Booster Vaccine Strategy to Improve Serologic Responses to Influenza Vaccination in Children With Rheumatic Diseases and Inflammatory Bowel Disease Who Are Receiving Immunosuppressive Therapies Completed NCT03277703 Phase 2
37 Immunogenicity and Efficacy of High-dose Trivalent Inactivated Seasonal Influenza Vaccine (Fluzone High Dose) in Immunocompromised Children and Young Adults. Completed NCT01685372 Phase 2
38 Improving Vocational Outcomes in Arthritis Completed NCT00000407 Phase 2
39 Systemic Sclerosis (SSc) Vasculopathy: Improved Clinical Monitoring and Treatment Completed NCT02530996 Phase 1, Phase 2 BH4;Placebo
40 Articular Cartilage Regeneration in Gonarthrosis Grade II and III by Articular Infiltration of Xcel-m-condro-alpha. Completed NCT01227694 Phase 1, Phase 2
41 A Randomized, Double-Blind, Placebo-Controlled, Titration-to-Effect Study of Orally Administered CR845 in Patients With Osteoarthritis of the Hip or Knee Completed NCT02944448 Phase 2 CR845 tablet 1 mg;CR845 tablet 2.5 mg;CR845 tablet 5 mg;Placebo tablet
42 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
43 A Phase 2a, Randomized, Double-Blind, Placebo-Controlled Trial of the Efficacy and Safety of LEVI-04 in Patients With Osteoarthritis of the Knee Recruiting NCT05618782 Phase 2 LEVI-04
44 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
45 An Ascending Single- and Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Subcutaneous Gimsilumab in Healthy Subjects and Subjects With Ankylosing Spondylitis Completed NCT04205851 Phase 1 KIN-1901;Placebo
46 Safety/Efficacy of Intra-articular Administration of Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis Completed NCT03337165 Phase 1
47 An Open, Dose Escalation, Single Dose Study to Assess Tolerance and Pharmacokinetics of T0001 in Healthy Adult Chinese Volunteers Completed NCT02291471 Phase 1 T0001,10mg;T0001,20mg;T0001,35mg;T0001,50mg;T0001,65mg;T0001,75mg
48 A Phase 1, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Single and Multiple Ascending Doses of VIB1116 in Conventional Dendritic Cell (cDC) and Plasmacytoid Dendritic Cell (pDC)-Mediated Rheumatic Diseases Recruiting NCT04948099 Phase 1 VIB1116;Placebo
49 Compliance of Traditional Chinese Medicine in Young Patients With Rheumatic Diseases Unknown status NCT02260323
50 Evaluation of the Usefulness of Interferon-γ Release Assays and Tuberculin Skin Test for Detection of Latent Mycobacterium Tuberculosis Infection in Korean Patients With Rheumatic Diseases Unknown status NCT01685905

Search NIH Clinical Center for Collagen Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR

Cochrane evidence based reviews: collagen diseases

Genetic Tests for Collagen Disease

Anatomical Context for Collagen Disease

Organs/tissues related to Collagen Disease:

MalaCards : Bone, Skin, Kidney, Lung, Bone Marrow, B Cells, Neutrophil

Publications for Collagen Disease

Articles related to Collagen Disease:

(show top 50) (show all 2840)
# Title Authors PMID Year
1
Czech dysplasia metatarsal type: another type II collagen disorder. 53 62
17726487 2007
2
Stability junction at a common mutation site in the collagenous domain of the mannose binding lectin. 53 62
15697204 2005
3
[Clinical significance of cytokine and cytokine receptor analysis in collagen diseases]. 53 62
14621587 2003
4
[Contribution of Japanese researchers to progress in the study of allergy and collagen disease in the last 100 years: Cytokines and cytokine receptors]. 53 62
12373883 2002
5
Changes in plasma serotonin concentration and acceleration plethysmograms in patients with Raynaud's phenomenon after long-term treatment with a 5-HT2 receptor antagonist. 53 62
11092268 2000
6
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. 53 62
10745044 2000
7
Increase in plasma thrombomodulin level in patients with vibration syndrome. 53 62
8731509 1996
8
Pulmonary surfactant protein D in sera and bronchoalveolar lavage fluids. 53 62
8520747 1995
9
[Evaluation of serum thrombomodulin in patients with interstitial pneumonia]. 53 62
7844912 1994
10
[Detection of anticardiolipin antibody using the EIA kit prepared to eliminate interference of serum cofactor]. 53 62
8371506 1993
11
Addition of serum from patients with collagen diseases increases to cultured human endothelial cells production and release of von Willebrand factor. 53 62
8438904 1993
12
Circulating thrombomodulin as a novel endothelial cell marker: comparison of its behavior with von Willebrand factor and tissue-type plasminogen activator. 53 62
1323930 1992
13
Plasma coagulation and fibrinolysis parameters in patients with collagen diseases, and analysis of the multimeric structure of von Willebrand factor (vWF). 53 62
1756253 1991
14
Development of a Non-Invasive Local Heating Load Test to Detect Severe Limb Ischemia Within 200 seconds. 62
35968758 2023
15
New Findings in Early-Stage Keratoconus: Lamina Cribrosa Curvature, Retinal Nerve Fiber Layer Thickness, and Vascular Perfusion. 62
36323392 2022
16
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage. 62
36282022 2022
17
A Case of Immunoglobulin G4-Related Scleritis and Pneumonia Initially Diagnosed as Eosinophilic Pneumonia. 62
36320984 2022
18
Pseudobullous pilomatricoma: A rare variant of pilomatricoma. 62
36092264 2022
19
Immunoglobulin G4-related solitary aneurysm of the deep femoral artery. 62
35898572 2022
20
Risk factors for arm lymphedema following breast cancer surgery: a Japanese nationwide database study of 84,022 patients. 62
35997891 2022
21
Fatigue crack propagation and fracture toughness of cortical bone are radiation dose-dependent. 62
35949192 2022
22
Descriptive Epidemiology of a Surgical Patellofemoral Instability Population of 492 Patients. 62
35859643 2022
23
Hydrogen-rich bath with nano-sized bubbles improves antioxidant capacity based on oxygen radical absorbing and inflammation levels in human serum. 62
34854419 2022
24
Multiple cardiac complications associated with collagen disease. 62
33215326 2022
25
Are there avoidable causes of early revision total knee arthroplasty? 62
35717341 2022
26
A One-Year-Old Girl With Human Parvovirus B19 Infection and Hypocomplementemia Mimicking Incomplete Kawasaki Disease. 62
35655625 2022
27
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports. 62
35587586 2022
28
Clinical Importance of Body Composition in Improving Bone Mineral Density of Femoral Neck After Denosumab Therapy in Patients With Rheumatoid Arthritis or Collagen Diseases. 62
35478104 2022
29
The compound LG283 inhibits bleomycin-induced skin fibrosis via antagonizing TGF-β signaling. 62
35488265 2022
30
Congenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study. 62
35149748 2022
31
Increased soluble programed cell death-ligand 1 is associated with acute coronary syndrome. 62
34843822 2022
32
Clinical characteristics and prognosis of immunosuppressed inpatients with COVID-19 in Japan. 62
34776348 2022
33
[DIAGNOSIS AND TREATMENT OF COLLAGEN DISEASES OTHER THAN RHEUMATOID ARTHRITIS]. 62
35569936 2022
34
[CUTANEOUS MANIFESTATIONS OF COLLAGEN DISEASE MIMICKING WITH ALLERGIC DISEASE]. 62
35691895 2022
35
Comorbidities as Risk Factors for Severe Disease in Hospitalized Elderly COVID-19 Patients by Different Age-Groups in Japan. 62
34999588 2022
36
Masked hypertension and neonatal outcome in high-risk pregnancies. 62
35034090 2022
37
[A CASE OF SUMMER-TYPE HYPERSENSITIVITY PNEUMONITIS DURING IMMUNOSUPPRESSIVE TREATMENT FOR SYSTEMIC SCLEROSIS]. 62
35173124 2022
38
Idiopathic Pulmonary Fibrosis Complicated by Adenocarcinoma and Organizing Pneumonia. 62
35004080 2022
39
Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family. 62
35422838 2022
40
A case of anterior scleritis in association with posterior scleritis - a diagnostic riddle. 62
35291584 2022
41
Hand-Assisted Laparoscopic Subtotal Colectomy for Ogilvie Syndrome Associated With Idiopathic Fibrosis of Colon After Simultaneous Pancreas Kidney Transplant. 62
34775940 2021
42
Gastrointestinal AA amyloidosis secondary to chronic pyelonephritis presenting with refractory diarrhea and severe hypoalbuminemia. 62
34468921 2021
43
Widespread Necrotizing Purpura and Lucio Phenomenon as the First Diagnostic Presentation of Diffuse Nonnodular Lepromatous Leprosy. 62
35167793 2021
44
The Japanese Society for Apheresis clinical practice guideline for therapeutic apheresis. 62
34877777 2021
45
Modified Halsted's operation for inguinal hernia repair: A new technique. 62
34712482 2021
46
Severity of Dementia Is Associated with Increased Periodontal Inflamed Surface Area: Home Visit Survey of People with Cognitive Decline Living in the Community. 62
34831719 2021
47
Virus-triggered secondary hemophagocytic lymphohistiocytosis. 62
34096649 2021
48
Evaluation of sweating responses in patients with collagen disease using the quantitative sudomotor axon reflex test (QSART): a study protocol for an investigator-initiated, prospective, observational clinical study. 62
34706954 2021
49
Psychogenic fever due to worry about COVID-19: A case report. 62
34429986 2021
50
COVID-19 pandemic highlighted the importance of telemedicine in the collagen disease of systemic sclerosis. 62
33200739 2021

Variations for Collagen Disease

Expression for Collagen Disease

Search GEO for disease gene expression data for Collagen Disease.

Pathways for Collagen Disease

Pathways related to Collagen Disease according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
2
Show member pathways
13.24 VWF THBD SERPINA3 COL1A2 COL1A1 CD36
3
Show member pathways
13.02 FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
4
Show member pathways
12.92 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
5 12.81 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
6
Show member pathways
12.74 THBD PLOD1 COL5A2 COL5A1 COL3A1 COL2A1
7
Show member pathways
12.35 FBN1 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2
8
Show member pathways
12.34 VWF TNXB PLOD1 FBN1 ELN COL5A2
9 12.27 VWF TNXB COL5A2 COL2A1 COL1A2 COL1A1
10
Show member pathways
12.16 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
11 12.06 SFTPD COL3A1 COL2A1 COL1A2 COL1A1
12
Show member pathways
11.92 COL5A2 COL5A1 COL3A1 COL2A1
13
Show member pathways
11.85 COL3A1 COL1A2 COL1A1 CD36
14
Show member pathways
11.82 COL2A1 COL3A1 COL5A1 COL5A2
15
Show member pathways
11.8 VWF COL1A2 COL1A1
16 11.74 FBN1 ELN COL1A2 COL1A1
17 11.63 COL3A1 COL2A1 COL1A2 COL1A1
18
Show member pathways
11.5 VWF TNXB FBN1 COL5A2 COL5A1 COL3A1
19 11.49 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
20 11.47 CD36 COL1A1 COL1A2 COL3A1 VWF
21 11.4 FBN1 COL1A2 COL1A1
22 11.32 PLOD1 COL1A2 COL1A1
23 11.31 COL3A1 COL1A2 COL1A1
24 11.3 TNXB COL5A2 COL5A1 COL3A1 COL1A2
25
Show member pathways
11.21 VWF COL1A2 COL1A1
26 11.11 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
27 10.98 COL5A1 COL3A1 COL1A1
28 10.98 FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
29 10.9 CHST14 B4GALT7

GO Terms for Collagen Disease

Cellular components related to Collagen Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.52 APOH COL1A1 COL1A2 COL2A1 COL3A1 COL5A1
2 extracellular space GO:0005615 10.4 APOH CD36 COL1A1 COL1A2 COL2A1 COL3A1
3 endoplasmic reticulum lumen GO:0005788 10.21 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
4 extracellular matrix GO:0031012 10.16 VWF TNXB FBN1 ELN COL5A2 COL5A1
5 collagen type XI trimer GO:0005592 9.8 COL5A2 COL5A1 COL2A1
6 collagen type V trimer GO:0005588 9.76 COL5A2 COL5A1
7 collagen type I trimer GO:0005584 9.73 COL1A2 COL1A1
8 collagen-containing extracellular matrix GO:0062023 9.7 VWF TNXB SERPINA3 FBN1 ELN COL5A2
9 collagen trimer GO:0005581 9.65 CD36 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1

Biological processes related to Collagen Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.07 FBN1 COL5A2 COL2A1 COL1A2 COL1A1
2 cellular response to amino acid stimulus GO:0071230 10.01 COL5A2 COL3A1 COL1A2 COL1A1
3 collagen biosynthetic process GO:0032964 9.84 COL5A1 COL1A1
4 proteoglycan metabolic process GO:0006029 9.83 COL2A1 B4GALT7
5 extracellular matrix organization GO:0030198 9.83 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
6 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.81 COL2A1 COL1A1
7 eye morphogenesis GO:0048592 9.8 COL5A2 COL5A1
8 supramolecular fiber organization GO:0097435 9.8 B4GALT7 COL3A1 COL5A1
9 blood vessel development GO:0001568 9.8 COL5A1 COL3A1 COL1A2 COL1A1
10 triglyceride transport GO:0034197 9.78 CD36 APOH
11 negative regulation of endodermal cell differentiation GO:1903225 9.76 COL5A2 COL5A1
12 skin development GO:0043588 9.76 COL5A2 COL5A1 COL3A1 COL1A1
13 anatomical structure development GO:0048856 9.73 COL1A1 COL2A1 COL3A1 COL5A2
14 collagen fibril organization GO:0030199 9.47 TNXB COL5A2 COL5A1 COL3A1 COL2A1 COL1A2

Molecular functions related to Collagen Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 10.03 TNXB FBN1 COL5A1 APOH
2 integrin binding GO:0005178 9.96 VWF TNXB FBN1 COL5A1 COL3A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.93 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
4 protease binding GO:0002020 9.92 COL1A1 COL1A2 COL3A1 VWF
5 SMAD binding GO:0046332 9.85 COL5A2 COL3A1 COL1A2
6 extracellular matrix constituent conferring elasticity GO:0030023 9.71 FBN1 ELN
7 platelet-derived growth factor binding GO:0048407 9.65 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
8 extracellular matrix structural constituent GO:0005201 9.62 VWF TNXB FBN1 ELN COL5A2 COL5A1

Sources for Collagen Disease

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
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