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MCID: SYS005
MIFTS: 68

Systemic Scleroderma

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Systemic Scleroderma

About this section

MalaCards integrated aliases for Systemic Scleroderma:

Name: Systemic Scleroderma 12 52 25 15 37 17 71
Scleroderma 12 74 52 58 6 42 15 17 71
Progressive Systemic Sclerosis 12 74 52 32
Systemic Sclerosis 12 52 25 15
Scleroderma, Systemic 52 43
Scleroderma, Familial Progressive 71
Familial Progressive Scleroderma 25
Progressive Scleroderma 25
Scleroderma, Localized 43
Scleroderma Syndrome 12
Diffuse Scleroderma 71
Scleroderma Disease 54
Dermatosclerosis 12

Characteristics:

Orphanet epidemiological data:

58
scleroderma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Worldwide),>1/1000; Age of onset: All ages; Age of death: elderly;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Skin diseases Nephrological diseases Respiratory diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare skin diseases


Sources

Summaries for Systemic Scleroderma

About this section
Genetics Home Reference : 25 Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body. The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud phenomenon, which can occur weeks to years before fibrosis. In Raynaud phenomenon, the fingers and toes of affected individuals turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. Another early sign of systemic scleroderma is puffy or swollen hands before thickening and hardening of the skin due to fibrosis. Skin thickening usually occurs first in the fingers (called sclerodactyly) and may also involve the hands and face. In addition, people with systemic scleroderma often have open sores (ulcers) on their fingers, painful bumps under the skin (calcinosis), or small clusters of enlarged blood vessels just under the skin (telangiectasia). Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction). There are three types of systemic scleroderma, defined by the tissues affected in the disorder. In one type of systemic scleroderma, known as limited cutaneous systemic scleroderma, fibrosis usually affects only the hands, arms, and face. Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of the condition: calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. In another type of systemic scleroderma, known as diffuse cutaneous systemic scleroderma, the fibrosis affects large areas of skin, including the torso and the upper arms and legs, and often involves internal organs. In diffuse cutaneous systemic scleroderma, the condition worsens quickly and organ damage occurs earlier than in other types of the condition. In the third type of systemic scleroderma, called systemic sclerosis sine scleroderma ("sine" means without in Latin), fibrosis affects one or more internal organs but not the skin. Approximately 15 percent to 25 percent of people with features of systemic scleroderma also have signs and symptoms of another condition that affects connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis, Sjögren syndrome, or systemic lupus erythematosus. The combination of systemic scleroderma with other connective tissue abnormalities is known as scleroderma overlap syndrome.

MalaCards based summary : Systemic Scleroderma, also known as scleroderma, is related to diffuse cutaneous systemic sclerosis and scleroderma, familial progressive, and has symptoms including pruritus, exanthema and hidebound skin. An important gene associated with Systemic Scleroderma is TSIX (TSIX Transcript, XIST Antisense RNA), and among its related pathways/superpathways are Allograft rejection and Cell adhesion molecules (CAMs). The drugs Macitentan and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are arthritis and gastroesophageal reflux

Disease Ontology : 12 A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.

NIH Rare Diseases : 52 Scleroderma is an autoimmune disorder that may involve changes in the skin, blood vessels, muscles, and internal organs . There are two main types: localized scleroderma , which affects only the skin; and systemic scleroderma , which affects the blood vessels and internal organs, as well as the skin. These two main types also have sub-types. Localized scleroderma subtypes include: Linear scleroderma Morphea Systemic scleroderma subtypes include: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome ) Limited Systemic Sclerosis The underlying cause of scleroderma is currently unknown; however, some scientists suspect it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. Some cases of scleroderma are induced by environmental factors or occur in association with other underlying disorders such as rheumatoid arthritis , lupus or Sjogren syndrome . There is no cure, but various treatments may relieve symptoms.

MedlinePlus : 42 Scleroderma means hard skin. It is a group of diseases that cause abnormal growth of connective tissue. Connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. In scleroderma, the tissue gets hard or thick. It can cause swelling or pain in your muscles and joints. Symptoms of scleroderma include Calcium deposits in connective tissues Raynaud's phenomenon, a narrowing of blood vessels in the hands or feet Swelling of the esophagus, the tube between your throat and stomach Thick, tight skin on your fingers Red spots on your hands and face No one knows what causes scleroderma. It is more common in women. It can be mild or severe. Doctors diagnose scleroderma using your medical history, a physical exam, lab tests, and a skin biopsy. There is no cure, but various treatments can control symptoms and complications. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Wikipedia : 74 Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by... more...

Sources

Related Diseases for Systemic Scleroderma

About this section

Diseases in the Systemic Scleroderma family:

Scleroderma, Familial Progressive Localized Scleroderma

Diseases related to Systemic Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1527)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 34.3 ICOSLG FBN1 CCR6 CCN2
2 scleroderma, familial progressive 34.3 TOP1 FBN1 FBL CCN2
3 diffuse scleroderma 33.4 TOP1 TGFB1 FBL CCN2 ACE
4 limited scleroderma 33.4 TOP1 FBL CRP CD40LG CCR6 CCN2
5 localized scleroderma 33.3 TGFB1 SELE CCN2
6 nonspecific interstitial pneumonia 31.5 TGFB1 SFTPD IFNG
7 pulmonary fibrosis 31.5 TGFB1 SFTPD ELN CCN2
8 crest syndrome 31.4 TOP1 H2AC18 FBL CD40LG
9 purpura 31.3 IFNG CRP CD40LG ACE
10 peripheral vascular disease 31.2 SELP SELE INS H2AC18 CRP ACE
11 carpal tunnel syndrome 31.2 TGFB1 INS CCN2 ACE
12 pericarditis 31.2 IFNG CRP CD40LG ACE
13 sexual disorder 31.2 INS H2AC18 ACE
14 idiopathic interstitial pneumonia 31.1 TGFB1 SFTPD IFNG CCN2
15 raynaud disease 31.1 TOP1 CRP CD40LG ACE
16 atherosclerosis susceptibility 31.1 SELP SELE INS ELN CRP ACE
17 pancytopenia 31.1 IFNG CRP CD40LG ACE
18 telangiectasis 31.1 TOP1 H2AC18 FBN1 FBL ELN
19 fasciitis 31.1 IFNG H2AC18 CRP
20 thrombocytopenia 31.1 TOP1 TGFB1 SELP SELE IFNG CRP
21 vasculitis 31.0 SELP SELE CRP CD40LG
22 collagen disease 31.0 SFTPD H2AC18 FBN1 ELN CRP CD40LG
23 thrombotic thrombocytopenic purpura 31.0 SELP SELE CD40LG
24 interstitial lung disease 31.0 TGFB1 SFTPD IFNG CRP CD40LG
25 spondylitis 31.0 IFNG CRP CCR6
26 lung disease 31.0 TGFB1 SFTPD INS IFNG ELN CRP
27 rapidly progressive glomerulonephritis 31.0 TGFB1 CRP CD40LG
28 spondyloarthropathy 1 31.0 ICOSLG CRP CD40LG CCR6
29 lipid metabolism disorder 30.9 SELE INS H2AC18 CRP ACE
30 bronchiolitis obliterans 30.9 TGFB1 SFTPD IFNG CRP
31 pulmonary fibrosis, idiopathic 30.9 TGFB1 SFTPD MIR142 IFNG ICOSLG ELN
32 autoimmune disease 30.9 TGFB1 INS IFNG ICOSLG FBL CRP
33 aspiration pneumonia 30.9 CRP CD40LG ACE
34 hypercholesterolemia, familial, 1 30.9 INS CRP ACE
35 pelvic organ prolapse 30.9 FBN1 ELN CCR6
36 rheumatic fever 30.9 IFNG CD40LG ACE
37 pneumothorax 30.9 FBN1 ELN CRP
38 acute myocardial infarction 30.8 SELP SELE CRP ACE
39 glomerulonephritis 30.8 TGFB1 CD40LG CCN2 ACE
40 ileus 30.8 INS IFNG CRP
41 nephrosclerosis 30.8 TGFB1 INS CCN2 ACE
42 acute myocarditis 30.8 H2AC18 CRP ACE
43 mitral valve insufficiency 30.8 FBN1 ELN CRP ACE
44 polyneuropathy 30.8 INS CRP CD40LG ACE
45 esophageal disease 30.8 MIR142 ICOSLG H2AC18 CCR6
46 pre-eclampsia 30.8 SELP SELE INS CRP CD40LG ACE
47 crohn's disease 30.8 IFNG ICOSLG CRP CCR6
48 herpes zoster 30.8 IFNG ICOSLG CRP CD40LG CCR6
49 silicosis 30.8 TGFB1 SFTPD ACE
50 neutropenia 30.8 TOP1 IFNG CRP CD40LG

Comorbidity relations with Systemic Scleroderma via Phenotypic Disease Network (PDN): (show all 13)


Active Peptic Ulcer Disease Acute Cystitis
Deficiency Anemia Esophagitis
Heart Disease Hypothyroidism
Localized Scleroderma Peripheral Vascular Disease
Postinflammatory Pulmonary Fibrosis Protein-Energy Malnutrition
Pulmonary Hypertension, Primary, 1 Raynaud Phenomenon
Systemic Lupus Erythematosus

Graphical network of the top 20 diseases related to Systemic Scleroderma:



Diseases related to Systemic Scleroderma
Sources

Symptoms & Phenotypes for Systemic Scleroderma

About this section

Human phenotypes related to Systemic Scleroderma:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
2 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
3 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 acrocyanosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001063
6 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
7 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
8 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
9 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
10 xerostomia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000217
11 gingivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000230
12 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
13 restrictive ventilatory defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0002091
14 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
15 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
16 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
17 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
18 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
19 gangrene 58 31 hallmark (90%) Very frequent (99-80%) HP:0100758
20 cheilitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100825
21 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
22 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
23 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
24 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
25 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
26 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
27 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
28 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
29 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
30 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
31 chondrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000934
32 urticaria 58 31 frequent (33%) Frequent (79-30%) HP:0001025
33 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
34 myocardial infarction 58 31 frequent (33%) Frequent (79-30%) HP:0001658
35 pericarditis 58 31 frequent (33%) Frequent (79-30%) HP:0001701
36 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
37 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
38 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
39 abnormal pattern of respiration 58 31 frequent (33%) Frequent (79-30%) HP:0002793
40 mucosal telangiectasiae 58 31 frequent (33%) Frequent (79-30%) HP:0100579
41 myositis 58 31 frequent (33%) Frequent (79-30%) HP:0100614
42 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
43 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
44 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
45 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
46 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
47 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
48 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
49 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
50 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790

UMLS symptoms related to Systemic Scleroderma:


pruritus, exanthema, hidebound skin

MGI Mouse Phenotypes related to Systemic Scleroderma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ACE CCN2 CCR6 CD40LG CRP FBN1
2 immune system MP:0005387 9.36 ACE CCR6 CD40LG CRP FBN1 IFNG
Sources

Drugs & Therapeutics for Systemic Scleroderma

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Drugs for Systemic Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 307)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Macitentan Approved Phase 4 441798-33-0
2
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
3
Metronidazole Approved Phase 4 443-48-1 4173
4
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
5
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
6
Norepinephrine Approved Phase 4 51-41-2 439260
7
Linaclotide Approved Phase 4 851199-59-2 65351
8
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
9
tannic acid Approved Phase 4 1401-55-4
10
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
11
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
12
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
13
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
14 Endothelin A Receptor Antagonists Phase 4
15 Endothelin Receptor Antagonists Phase 4
16 Platelet Aggregation Inhibitors Phase 4
17 Phosphodiesterase 5 Inhibitors Phase 4
18 Phosphodiesterase Inhibitors Phase 4
19 Vasodilator Agents Phase 4
20 Neurotransmitter Agents Phase 4
21 Antiparasitic Agents Phase 4
22 Antiprotozoal Agents Phase 4
23 Phosphodiesterase 3 Inhibitors Phase 4
24 Anti-Asthmatic Agents Phase 4
25 Bronchodilator Agents Phase 4
26 Adrenergic alpha-Agonists Phase 4
27 Vasoconstrictor Agents Phase 4
28 Adrenergic Agents Phase 4
29 Adrenergic Agonists Phase 4
30 Sympathomimetics Phase 4
31 Analgesics, Non-Narcotic Phase 4
32 Analgesics Phase 4
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4
34 Fibrinolytic Agents Phase 4
35 Cyclooxygenase Inhibitors Phase 4
36 Antipyretics Phase 4
37 Anti-Infective Agents Phase 4
38 Anti-Bacterial Agents Phase 4
39 Antibiotics, Antitubercular Phase 4
40 Antifungal Agents Phase 4
41 Omega 3 Fatty Acid Phase 4
42
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
43
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2
44
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
45
Domperidone Approved, Investigational, Vet_approved Phase 3 57808-66-9 3151
46
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
47
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
48
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
49
Lactulose Approved Phase 3 4618-18-2 11333
50
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632

Interventional clinical trials:

(show top 50) (show all 513)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Vaccination Against Influenza in Patients With Scleroderma Unknown status NCT01002508 Phase 4
2 Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
3 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
4 Potential Therapy With MACITENTAN in the Treatment of Chronic Lung Allograft Dysfunction (CLAD) After Lung Transplantation Unknown status NCT02893176 Phase 4 macitentan;placebo (for macitentan)
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 Effects of Bosentan in a Homogenous Population of Systemic Sclerosis Subjects With a Predefined Restriction of Blood Flow in the Hands Completed NCT01395732 Phase 4 Bosentan
7 The Clinical Efficacy And Subclinical Effects on Arterial STIFFNESS of Bosentan Therapy Added to Usual Care in Patients With Systemic Sclerosis With Digital Ulcers Completed NCT02480335 Phase 4 bosentan
8 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
9 Efectividad de Saccharomyces Oulardii Para Reducir Los síntomas Gastrointestinales y Evitar el Sobrecrecimiento Bacteriano en Esclerosis sistémica Completed NCT03692299 Phase 4 Saccharomyces Boulardii Oral Tablet;Metronidazole
10 Open Label, Non Comparative Study to Investigate the Effect of Bosentan on Pulmonary Artery Remodelling in Pulmonary Arterial Hypertension (PAH). Completed NCT00595049 Phase 4 bosentan
11 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
12 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
13 Microcirculation After MAP Increase in Septic Shock Patients With Previous Hypertension Completed NCT02519699 Phase 4 norepinephrine
14 Single-dose Linaclotide for Capsule Endoscopy Preparation Completed NCT02465385 Phase 4 Linaclotide
15 Evaluation of Effectiveness of Acetylsalicylic Acid on Markers of Vascular Dysfunction in Patients With Systemic Sclerosis Recruiting NCT03558854 Phase 4 Acetylsalicylic acid;Placebo oral capsule
16 A Phase IV, Single-arm, Open-label Clinical Trial to Evaluate the Efficacy and Safety of PLACENTEX ® Polydeoxyribonucleotide i.m. in Patients With Fibrotic and Atrophic Cutaneous Lesions in Scleroderma Diseases Active, not recruiting NCT03388255 Phase 4 Polydeoxyribonucleotides
17 Sirolimus in Patients With Connective Tissue Disease Related Thrombocytopenia (CTD-TP): a Single-arm, Open-label Clinical Trial in China Active, not recruiting NCT03688191 Phase 4 Sirolimus
18 Protocol for a Randomized, Placebo-Controlled, Double-Blinded Trial to Study the Effects of Supplementary Omega-3 Fatty Acids on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
19 Comparison of Solid-State Esophageal Manometry and Water Perfused Anorectal Manometry Catheters With Air Filled Multi-Balloon Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
20 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
21 A Prospective Study of the Utility of Intraoperative, Quantitative Indocyanine Green Angiography in Microvascular Surgery for Systemic Scerlosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
22 Rare Disease With Microvascular Involvement: High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis Unknown status NCT00428883 Phase 2, Phase 3 N-acetylcysteine (NAC)
23 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
24 Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
25 A Randomized, Double-blinded, Placebo Controlled Study to Evaluate Clinical Efficacy and Safety of Pirfenidone for Skin Fibrosis in Systemic Sclerosis Unknown status NCT03068234 Phase 2, Phase 3 Pirfenidone;Placebo oral capsule;Steroids
26 Effects of Probiotics on Gastrointestinal Symptoms and on the Immune System in Patients With Systemic Sclerosis: a Randomized Double-blind Placebo-controlled Clinical Trial Unknown status NCT02302352 Phase 3
27 A Study of a Topical Formulation of Nitroglycerin, MQX-503, and Matching Vehicle in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
28 A Prospective Randomized Study Between the Use of Bulking Agent and the Endoanal Electrostimulation Therapy in Patients With Mild or Moderate Anal Incontinence Unknown status NCT03052946 Phase 2, Phase 3
29 A Study of a Topical Formulation of Nitroglycerin, Vascana® (MQX-503), and Matching Vehicle in the Treatment and Prevention of Symptoms Associated With Raynaud's Phenomenon Unknown status NCT00934427 Phase 3 0.9% nitroglycerin in TAM cream;vehicle cream
30 A Randomized, Double-blind, Placebo-controlled Multi-center Study of GB-0998 for Treatment of Systemic Sclerosis Completed NCT00348296 Phase 3 High-dose intravenous immunoglobulin (Venoglobulin-IH)
31 A Randomized, Double-Blind, Placebo-Controlled Trial of Recombinant Human Relaxin in the Treatment of Systemic Sclerosis With Diffuse Scleroderma Completed NCT00704665 Phase 3 Relaxin;Relaxin
32 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
33 Effect of Sildenafil on the Microcirculatory Blood Flow and on the Endothelial Progenitor Cells in Patients With Systemic Sclerosis: a Randomized, Double-blind, Placebo-controlled Clinical Trial Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
34 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
35 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma: A Double Blind, Parallel Group, Multicentric Study Completed NCT01117298 Phase 3 Tadalafil;Placebo
36 Evaluation of the Efficacy of Sildenafil on Time to Healing in Patients With Scleroderma and Ischaemic Digital Ulcers: a Prospective, Longitudinal, Randomized, Comparative, Double-blind, 2-parallel-arm, Placebo-controlled Study Completed NCT01295736 Phase 3 Sildenafil;placebo
37 Evaluation of the Efficacy and Safety of the Imiquimod 5% Topical Cream in Plaque Morphea: A Prospective, Multiple Baseline, Open Label Pilot Study Completed NCT00147771 Phase 3 Imiquimod 5% cream
38 A Randomized, Double-Blinded, Placebo-Controlled Clinical Trial Assessing the Therapeutic Efficacy of Botulinum Toxin In Treating Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
39 Long-term Open-label Study in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis Who Completed the Protocol AC-052-330. Completed NCT00319033 Phase 2, Phase 3 bosentan
40 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
41 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
42 A Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Effect of Bosentan on Healing and Prevention of Ischemic Digital Ulcers in Patients With Systemic Sclerosis Completed NCT00077584 Phase 3 Bosentan 62.5 mg;Bosentan 125 mg;Placebo
43 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Efficacy, Safety and Tolerability of Bosentan in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis Completed NCT00070590 Phase 2, Phase 3 Bosentan
44 A Phase II/III, Multicenter, Randomized, Double-blind, Placebo-controlled Study To Assess The Efficacy And Safety Of Tocilizumab Versus Placebo In Patients With Systemic Sclerosis Completed NCT01532869 Phase 3 Placebo;tocilizumab [RoActemra/Actemra];tocilizumab [RoActemra/Actemra]
45 A Double Blind, Randomised, Placebo-controlled Trial Evaluating Efficacy and Safety of Oral Nintedanib Treatment for at Least 52 Weeks in Patients With Systemic Sclerosis Associated Interstitial Lung Disease (SSc-ILD) Completed NCT02597933 Phase 3 Nintedanib;Placebo
46 The Effectiveness of Domperidone Versus Alginic Acid Add on Omeprazole Therapy in Omeprazole Resistance Gastroesophageal Reflux in Systemic Sclerosis Completed NCT01878526 Phase 3 Alginic acid;placebo (for domperidone);Domperidone;placebo (of alginic acid)
47 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
48 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
49 A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy and Safety of Tocilizumab Versus Placebo in Patients With Systemic Sclerosis Completed NCT02453256 Phase 3 Placebo;Tocilizumab
50 The Effect of Rosuvastatin on Vascular Dysfunction and Inflammatory Markers in Systemic Sclerosis-related Pulmonary Hypertension: Randomized, Double-Blind Placebo-Controlled Trial Completed NCT00984932 Phase 3 Rosuvastatin

Search NIH Clinical Center for Systemic Scleroderma

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


Chloroquine
Chloroquine hydrochloride
chloroquine phosphate
Epoprostenol
Epoprostenol Sodium
Potassium aminobenzoate
Tolazoline
Tolazoline Hydrochloride

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Systemic Scleroderma cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Systemic Scleroderma:
Hematopoietic stem cells for systemic sclerosis

Cochrane evidence based reviews: scleroderma, localized

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Genetic Tests for Systemic Scleroderma

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Anatomical Context for Systemic Scleroderma

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MalaCards organs/tissues related to Systemic Scleroderma:

40
Skin, Lung, Heart, Testes, Endothelial, Kidney, Breast
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Publications for Systemic Scleroderma

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Articles related to Systemic Scleroderma:

(show top 50) (show all 13816)
# Title Authors PMID Year
1
Systemic sclerosis and the COVID-19 pandemic: World Scleroderma Foundation preliminary advice for patient management. 61 42
32349982 2020
2
Raynaud phenomenon and digital ulcers in systemic sclerosis. 42
32099191 2020
3
A case of eosinophilic fasciitis and generalized morphea overlap. 42
32239898 2020
4
Prostacyclin derivatives prevent the fibrotic response to TGF-beta by inhibiting the Ras/MEK/ERK pathway. 61 54
12368229 2002
5
DNA-specific antiidiotypic antibodies in the sera of patients with autoimmune diseases. 54 61
1468555 1992
6
Autoantibodies against nuclear, nucleolar, and mitochondrial antigens in systemic sclerosis (scleroderma). 54 61
2406806 1990
7
The potential for early diagnosis of pulmonary arterial hypertension using lung iodine-123-metaiodobenzylguanidine (123I-MIBG) uptake: A case report. 61
32528606 2020
8
Type I interferon dysregulation in Systemic Sclerosis. 61
30685202 2020
9
Venom serine proteinase homolog of the ectoparasitoid Scleroderma guani impairs host phenoloxidase cascade. 61
32445842 2020
10
Localized scleroderma histologically characterized by liquefaction degeneration and upper dermis fibrosis: a possible association with chemotherapy. 61
32170760 2020
11
MicroRNA in localized scleroderma: a review of literature. 61
31637470 2020
12
Squamous cell carcinoma antigen-IgM (SCCA-IgM) is associated with interstitial lung disease in systemic sclerosis. 61
32087361 2020
13
Systemic sclerosis: Recent insight in clinical management. 61
31568838 2020
14
Racial differences in systemic sclerosis disease presentation: a European Scleroderma Trials and Research group study. 61
31680161 2020
15
Taking care of systemic sclerosis patients during COVID-19 pandemic: rethink the clinical activity. 61
32462423 2020
16
Skin improvement is a surrogate for favourable changes in other organ systems in early diffuse cutaneous systemic sclerosis. 61
31774531 2020
17
Sarcopenia in juvenile localized scleroderma: new insights on deep involvement. 61
32144460 2020
18
Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype. 61
32293785 2020
19
MR imaging findings of calcinosis cutis in primary Sjogren syndrome, a rare manifestation. 61
32435323 2020
20
Unilateral Neuroimaging Findings in Pediatric Craniofacial Scleroderma: Parry-Romberg Syndrome and En Coup de Sabre. 61
32527172 2020
21
Cerebellar Atrophy in Craniofacial Morphea: A Report of 2 Cases with 1-year Neuroimaging Followup. 61
32541079 2020
22
Immune checkpoint inhibitor-induced myositis, the earliest and most lethal complication among rheumatic and musculoskeletal toxicities. 61
32535094 2020
23
Phosphorylated signal transducer and activator of transcription 3 (pSTAT3) is highly expressed in CD14+ circulating cells of scleroderma patients. 61
31899517 2020
24
Microvascular Damage in a Young Female Archer Assessed by Nailfold Videocapillaroscopy: A Case Report. 61
32545690 2020
25
Atmospheric fallout impact on 210Po and 210Pb content in wild growing mushrooms. 61
32248416 2020
26
Multicentric B-cell lymphoma with presumed paraneoplastic generalized cutaneous sclerosis in a dog. 61
31930629 2020
27
Metal concentration and health risk assessment of fifteen wild mushrooms collected from the Ankara University Campus (Turkey). 61
32506407 2020
28
Scleroderma patient perspectives on social support from close social relationships. 61
30761932 2020
29
Posterior Reversible Encephalopathy Syndrome Induced by Scleroderma Renal Crisis in a Patient With Undiagnosed Scleroderma. 61
32511145 2020
30
Sleep Disturbance in Scleroderma. 61
32568947 2020
31
Scleroderma-like Pattern in Various Rheumatic Diseases. 61
32295850 2020
32
Renal Involvement in Systemic Sclerosis: An Update. 61
32521536 2020
33
Mitochondria, Aging, and Cellular Senescence: Implications for Scleroderma. 61
32562128 2020
34
Isolated Exercise-Induced Pulmonary Hypertension Associates with Higher Cardiovascular Risk in Scleroderma Patients. 61
32570917 2020
35
Validity and reliability of the Mouth Handicap of Systemic Sclerosis questionnaire in a UK population. 61
32531075 2020
36
The first composite score predicting Digital Ulcers in systemic sclerosis patients using Clinical data, Imaging and Patient history-CIP-DUS. 61
32539806 2020
37
Galectin-1 and Galectin-3 Expression in Lesional Skin of Patients With Systemic Sclerosis-Association With Disease Severity. 61
32501939 2020
38
What narrative devices do people with systemic sclerosis use to describe the experience of pain from digital ulcers: a multicentre focus group study at UK scleroderma centres. 61
32532783 2020
39
Systemic sclerosis in mother and daughter with susceptible HLA haplotype and anti-topoisomerase I autoantibodies. 61
31970496 2020
40
Clinical ultrasonography in systemic autoimmune diseases. 61
31635810 2020
41
Metabolic Disturbances in Urinary and Plasma Samples from Seven Different Systemic Autoimmune Diseases Detected by HPLC-ESI-QTOF-MS. 61
32460496 2020
42
Safety and efficacy of PD-1/PD-L1 blockade in patients with preexisting antinuclear antibodies. 61
31576495 2020
43
Risk of scleroderma according to the type of immune checkpoint inhibitors. 61
32540450 2020
44
Treatment With Mycophenolate and Cyclophosphamide Leads to Clinically Meaningful Improvements in Patient-Reported Outcomes in Scleroderma Lung Disease: Results of Scleroderma Lung Study II. 61
32432411 2020
45
Dermatomyositis in a patient undergoing nivolumab therapy for metastatic melanoma: a case report and review of the literature. 61
31567590 2020
46
Outcome of pulse oral cyclophosphamide therapy in scleroderma interstitial lung disease. 61
32519048 2020
47
Network pharmacology strategy for predicting the correlation of Systemic Scleroderma with Vitamin D deficiency. 61
32563782 2020
48
[Linear scleroderma "en coup de sabre" causing severe neurological and ocular symptoms]. 61
32533203 2020
49
Expert Perspective: Challenges in Scleroderma. 61
32562363 2020
50
Combined anti-fibrotic and anti-inflammatory properties of JAK-inhibitors on macrophages in vitro and in vivo: perspectives for scleroderma-associated interstitial lung disease. 61
32562787 2020
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Variations for Systemic Scleroderma

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ClinVar genetic disease variations for Systemic Scleroderma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)SNV Conflicting interpretations of pathogenicity 196579 rs140574574 11:47433573-47433573 11:47412022-47412022
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Expression for Systemic Scleroderma

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Search GEO for disease gene expression data for Systemic Scleroderma.
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Pathways for Systemic Scleroderma

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Pathways related to Systemic Scleroderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Allograft rejection 1 36
Show member pathways
 12.54 TGFB1 INS IFNG ICOSLG CD40LG
2
Cell adhesion molecules (CAMs) 36
11.43 SELP SELE ICOSLG CD40LG
3
Elastic fibre formation 65
Show member pathways
 11.41 TGFB1 FBN1 ELN
4
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.3 SELE IFNG CD40LG
5
Lung fibrosis 1
11.23 TGFB1 ELN CCN2
6
ATF-2 transcription factor network 1
11.07 SELE INS IFNG
7
Malaria 36
10.72 TGFB1 SELP SELE IFNG CD40LG
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GO Terms for Systemic Scleroderma

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Cellular components related to Systemic Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 TGFB1 SFTPD INS IFNG FBN1 ELN
2 external side of plasma membrane GO:0009897 9.55 SELP ICOSLG CD40LG CCR6 ACE
3 extracellular space GO:0005615 9.4 TGFB1 SFTPD SELP SELE MIR142 INS

Biological processes related to Systemic Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.83 TGFB1 INS IFNG CRP CCN2
2 inflammatory response GO:0006954 9.65 TGFB1 SELP SELE CRP CD40LG
3 leukocyte migration involved in inflammatory response GO:0002523 9.46 SELE CCR6
4 negative regulation of blood vessel diameter GO:0097756 9.4 INS CRP
5 cellular response to insulin-like growth factor stimulus GO:1990314 9.37 TGFB1 FBN1
6 positive regulation of leukocyte tethering or rolling GO:1903238 9.32 SELP SELE
7 connective tissue development GO:0061448 9.16 TGFB1 CCN2
8 leukocyte cell-cell adhesion GO:0007159 9.13 SELP SELE CD40LG
9 mononuclear cell proliferation GO:0032943 8.62 TGFB1 ACE

Molecular functions related to Systemic Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oligosaccharide binding GO:0070492 8.96 SELP SELE
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 ELN
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Sources for Systemic Scleroderma

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