Systemic Scleroderma (PSS)

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Systemic Scleroderma

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
Pss 12


Orphanet epidemiological data:

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


Orphanet: 58  
Rare skin diseases

Summaries for Systemic Scleroderma

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 Tadalafil and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are nausea and vomiting and muscle weakness

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...

Related Diseases for Systemic Scleroderma

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 1525)
# 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 limited scleroderma 33.5 TOP1 FBL CRP CCR6 CCN2 ACE
4 diffuse scleroderma 33.5 TOP1 TGFB1 FBL CCN2 ACE
5 localized scleroderma 33.3 TGFB1 SELE CCN2
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 32.2 TPO INS IFNG
7 pulmonary fibrosis 31.5 TGFB1 SFTPD ELN CCN2
8 crest syndrome 31.4 TOP1 H2AC18 CD40LG
9 nonspecific interstitial pneumonia 31.4 TGFB1 SFTPD MIR21 IFNG
10 purpura 31.3 SELP CRP CD40LG ACE
11 peripheral vascular disease 31.3 SELP SELE INS H2AC18 CRP ACE
12 carpal tunnel syndrome 31.2 TGFB1 INS CCN2 ACE
13 thrombocytopenia 31.2 TOP1 SELP SELE IFNG CRP CD40LG
14 raynaud disease 31.2 TOP1 CRP CD40LG ACE
15 pericarditis 31.2 IFNG CRP CD40LG ACE
16 idiopathic interstitial pneumonia 31.2 TGFB1 SFTPD MIR21 IFNG CCR6 CCN2
17 atherosclerosis susceptibility 31.1 SELP SELE INS ELN CRP ACE
18 end stage renal failure 31.1 TGFB1 SELP CRP ACE
19 pancytopenia 31.1 IFNG CRP CD40LG ACE
20 vasculitis 31.1 SELP SELE CRP CD40LG
21 thrombotic thrombocytopenic purpura 31.0 SELP SELE CD40LG
22 lung disease 31.0 TGFB1 SFTPD INS IFNG ELN CRP
23 interstitial lung disease 31.0 TGFB1 SFTPD IFNG CRP CD40LG
24 pulmonary fibrosis, idiopathic 31.0 TGFB1 SFTPD MIR21 IFNG ICOSLG ELN
25 spondylitis 31.0 IFNG CRP CCR6
26 granulomatous hepatitis 31.0 CRP CD40LG ACE
27 rapidly progressive glomerulonephritis 31.0 TGFB1 CRP CD40LG
28 spondyloarthropathy 1 31.0 ICOSLG CRP CD40LG CCR6
29 bronchiolitis obliterans 31.0 SFTPD IFNG CRP
30 lipid metabolism disorder 31.0 SELE INS H2AC18 CRP ACE
31 telangiectasis 31.0 TOP1 H2AC18 FBN1 FBL ELN CCR6
32 herpes zoster 30.9 IFNG ICOSLG CRP CD40LG
33 silicosis 30.9 TGFB1 SFTPD ACE
34 pelvic organ prolapse 30.9 TGFB1 ELN CCR6
35 rheumatic fever 30.9 IFNG CD40LG ACE
36 aspiration pneumonia 30.9 INS CRP CD40LG ACE
37 mechanical strabismus 30.9 TPO CD40LG
38 glomerulonephritis 30.9 TGFB1 CD40LG CCN2 ACE
39 hypercholesterolemia, familial, 1 30.9 INS CRP ACE
40 ileus 30.9 INS IFNG CRP
41 nephrosclerosis 30.9 TGFB1 INS CCN2 ACE
42 mitral valve insufficiency 30.8 FBN1 ELN CRP ACE
43 acute myocarditis 30.8 H2AC18 CRP ACE
44 autoimmune disease 30.8 TPO TGFB1 INS IFNG ICOSLG FBL
45 esophageal disease 30.8 MIR21 ICOSLG H2AC18 CCR6
46 polyneuropathy 30.8 INS CRP CD40LG ACE
47 pre-eclampsia 30.8 SELP SELE INS CRP CD40LG ACE
48 aortic valve insufficiency 30.8 FBN1 ELN CRP ACE
49 peripheral artery disease 30.8 SELP CRP ACE
50 acute myocardial infarction 30.8 SELP SELE MIR21 INS CRP ACE

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

Symptoms & Phenotypes for Systemic Scleroderma

Human phenotypes related to Systemic Scleroderma:

58 31 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
4 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
5 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
6 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
7 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
8 acrocyanosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001063
9 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
10 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
11 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
12 xerostomia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000217
13 gingivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000230
14 restrictive ventilatory defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0002091
15 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
16 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
17 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
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 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
22 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
23 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
24 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
25 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
26 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
27 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
28 myocardial infarction 58 31 frequent (33%) Frequent (79-30%) HP:0001658
29 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
30 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
31 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
32 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
33 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
34 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
35 chondrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000934
36 urticaria 58 31 frequent (33%) Frequent (79-30%) HP:0001025
37 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
38 pericarditis 58 31 frequent (33%) Frequent (79-30%) HP:0001701
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 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
43 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
44 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
45 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
46 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
47 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
48 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
49 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
50 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635

UMLS symptoms related to Systemic Scleroderma:

pruritus, exanthema, hidebound skin

MGI Mouse Phenotypes related to Systemic Scleroderma:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 ACE CCN2 CCR6 CD40LG CRP FBN1
2 hematopoietic system MP:0005397 9.9 ACE CCR6 CD40LG FBN1 IFNG INS
3 homeostasis/metabolism MP:0005376 9.77 ACE CCN2 CCR6 CD40LG CRP FBN1
4 immune system MP:0005387 9.4 ACE CCR6 CD40LG CRP FBN1 IFNG

Drugs & Therapeutics for Systemic Scleroderma

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

(show top 50) (show all 329)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
Metronidazole Approved Phase 4 443-48-1 4173
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
Norepinephrine Approved Phase 4 51-41-2 439260
Linaclotide Approved Phase 4 851199-59-2 65351
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Macitentan Approved Phase 4 441798-33-0
14 Platelet Aggregation Inhibitors Phase 4
15 Vasodilator Agents Phase 4
16 Phosphodiesterase 5 Inhibitors Phase 4
17 Phosphodiesterase Inhibitors Phase 4
18 Neurotransmitter Agents Phase 4
19 Antiparasitic Agents Phase 4
20 Antiprotozoal Agents Phase 4
21 Vasoconstrictor Agents Phase 4
22 Sympathomimetics Phase 4
23 Adrenergic Agents Phase 4
24 Anti-Asthmatic Agents Phase 4
25 Bronchodilator Agents Phase 4
26 Phosphodiesterase 3 Inhibitors Phase 4
27 Adrenergic Agonists Phase 4
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4
29 Fibrinolytic Agents Phase 4
30 Cyclooxygenase Inhibitors Phase 4
31 Anti-Bacterial Agents Phase 4
32 Anti-Infective Agents Phase 4
33 Immunosuppressive Agents Phase 4
34 Antibiotics, Antitubercular Phase 4
35 Antifungal Agents Phase 4
36 Endothelin Receptor Antagonists Phase 4
37 Endothelin A Receptor Antagonists Phase 4
38 Omega 3 Fatty Acid Phase 4
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2
Domperidone Approved, Investigational, Vet_approved Phase 3 57808-66-9 3151
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
Lactulose Approved Phase 3 4618-18-2 11333
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
46 Brodalumab Approved, Investigational Phase 3 1174395-19-7
Nintedanib Approved Phase 3 656247-17-5 56843413
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
Prilocaine Approved Phase 3 721-50-6 4906

Interventional clinical trials:

(show top 50) (show all 475)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Vaccination Against Influenza in Patients With Scleroderma Unknown status NCT01002508 Phase 4
2 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
3 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
4 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
5 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
6 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
7 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
8 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
9 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
10 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
11 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
12 Microcirculation After MAP Increase in Septic Shock Patients With Previous Hypertension Completed NCT02519699 Phase 4 norepinephrine
13 Single-dose Linaclotide for Capsule Endoscopy Preparation Completed NCT02465385 Phase 4 Linaclotide
14 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
15 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
16 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
17 Potential Therapy With MACITENTAN in the Treatment of Chronic Lung Allograft Dysfunction (CLAD) After Lung Transplantation Not yet recruiting NCT02893176 Phase 4 macitentan;placebo (for macitentan)
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 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
29 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)
30 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
31 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
32 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)
33 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
34 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
35 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
36 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
37 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
38 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
39 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
40 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
41 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
42 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
43 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]
44 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
45 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)
46 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
47 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
48 Intravenous Cyclophosphamide for the Treatment of Systemic Sclerosis Associated Interstitial Lung Disease Completed NCT01570764 Phase 3 Cyclophosphamide;Placebo
49 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
50 Prospective, Randomized, Placebo-controlled, Double-blind, Multicenter, Parallel Group Study to Assess the Efficacy, Safety and Tolerability of Macitentan in Patients With Ischemic Digital Ulcers Associated With Systemic Sclerosis Completed NCT01474109 Phase 3 macitentan 3mg;macitentan 10mg;placebo

Search NIH Clinical Center for Systemic Scleroderma

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

Chloroquine hydrochloride
chloroquine phosphate
Epoprostenol Sodium
Potassium aminobenzoate
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

Genetic Tests for Systemic Scleroderma

Anatomical Context for Systemic Scleroderma

MalaCards organs/tissues related to Systemic Scleroderma:

Skin, Lung, Heart, Kidney, T Cells, Breast, Testes

Publications for Systemic Scleroderma

Articles related to Systemic Scleroderma:

(show top 50) (show all 13645)
# Title Authors PMID Year
The Vessels Contribute to Fibrosis in Systemic Sclerosis. 61 42
31507123 2019
Role of microRNA in the pathogenesis of systemic sclerosis tissue fibrosis and vasculopathy. 42
31520794 2019
One year in review 2019: systemic sclerosis. 42
31587697 2019
Prostacyclin derivatives prevent the fibrotic response to TGF-beta by inhibiting the Ras/MEK/ERK pathway. 54 61
12368229 2002
DNA-specific antiidiotypic antibodies in the sera of patients with autoimmune diseases. 54 61
1468555 1992
Autoantibodies against nuclear, nucleolar, and mitochondrial antigens in systemic sclerosis (scleroderma). 54 61
2406806 1990
Eosinophilic Fasciitis - Beware of the Rare Form of Hand Contracture. 61
32000611 2020
Using Transitional Changes on High-Resolution Computed Tomography to Monitor the Impact of Cyclophosphamide or Mycophenolate Mofetil on Systemic Sclerosis-Related Interstitial Lung Disease. 61
31430058 2020
Development of a new patient-reported outcome measure to assess activities and participation in people with systemic sclerosis: The Cochin 17-item Scleroderma Functional Scale. 61
32017013 2020
Scleroderma Renal Crisis: Risk Factors for an Increasingly Rare Organ Complication. 61
30936287 2020
The Epidemiology and Clinical Manifestations of Autoimmunity in Selective IgA Deficiency. 61
31267472 2020
Downregulation of CFIm25 amplifies dermal fibrosis through alternative polyadenylation. 61
31757866 2020
A case of overlapping adult-onset linear scleroderma and Parry-Romberg syndrome presenting with widespread ipsilateral neurogenic involvement. 61
31775183 2020
Nailfold capillaroscopy and autoimmune connective tissue diseases in patients from a Portuguese nailfold capillaroscopy clinic. 61
31451935 2020
A deeper look at skin scoring in scleroderma - surrogate, outcome, neither or both? 61
31586429 2020
Assigning values to the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT) score indicating degree of severity and responsiveness: fostering practical use in clinic and therapeutic studies for morphoea/localized scleroderma. 61
31943130 2020
Using the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT) to classify morphoea by severity and identify clinically significant change. 61
31049928 2020
Joint analysis of panel count and interval-censored data using distribution-free frailty analysis. 61
32022280 2020
Real-world use of extracorporeal photopheresis for patients with cutaneous T-cell lymphoma in the United States: 2010-2015. 61
30892982 2020
CD8+ T cells mediate ultraviolet A-induced immunomodulation in a model of extracorporeal photochemotherapy. 61
32012249 2020
A proposed mechanism for central centrifugal cicatricial alopecia. 61
29660185 2020
Worldwide Expert Agreement on Updated Recommendations for the Treatment of Systemic Sclerosis. 61
31043545 2020
Factors associated with symptoms of depression among informal caregivers of people with systemic sclerosis: a cross-sectional study. 61
30122129 2020
Changes in skin score in early diffuse cutaneous systemic sclerosis are associated with changes in global disease severity. 61
31359048 2020
The predictive role of lung ultrasound in progression of scleroderma interstitial lung disease. 61
31327084 2020
Spontaneous bowel perforation in the setting of colonic involvement with scleroderma. 61
31907219 2020
Fat Grafting for Treatment of Facial Scleroderma. 61
31739892 2020
Electrocardiographic markers for the prediction of ventricular arrhythmias in patients with systemic sclerosis. 61
31943100 2020
Avocado-Soybean Unsaponifiables: A Panoply of Potentialities to Be Exploited. 61
31940989 2020
Staining of antinuclear antibodies and antibodies against removable nuclear antigens in connective tissue diseases. 61
31623944 2020
CD22 and CD72 contribute to the development of scleroderma in a murine model. 61
31883832 2020
HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry. 61
31871193 2020
Genetic Interactions Affect Lung Function in Patients with Systemic Sclerosis. 61
31694854 2020
Systemic sclerosis in mother and daughter with susceptible HLA haplotype and anti-topoisomerase I autoantibodies. 61
31970496 2020
Videofluoroscopic and Manometric Evaluation of Oropharyngeal and Esophageal Motility Disorders. 61
31989895 2020
Targeting metabolic dysregulation for fibrosis therapy. 61
31548636 2020
A case of multiple cerebral cavernomas associated with en coup de sabre scleroderma. 61
31755138 2020
A role of antifibrotics in the treatment of Scleroderma-ILD? 61
31653592 2020
The Glittre Activities of Daily Living Test in women with scleroderma and its relation to hand function and physical capacity. 61
31951978 2020
Exploring the impact of paediatric localized scleroderma on health-related quality of life: Focus groups with youth and caregivers. 61
31955419 2020
Phosphorylated signal transducer and activator of transcription 3 (pSTAT3) is highly expressed in CD14+ circulating cells of scleroderma patients. 61
31899517 2020
Biosynthetic pathway of indole-3-acetic acid in ectomycorrhizal fungi collected from northern Thailand. 61
31899917 2020
Adipose Tissue-derived Stem cells in Plastic and Reconstructive Surgery: A Bibliometric Study. 61
31980863 2020
Performance of the 2016 ACR/EULAR Sjögren's syndrome classification criteria in patients with secondary Sjögren's syndrome. 61
31994479 2020
Remodelling of calcinosis cutis in a patient with scleroderma overlap syndrome. 61
31407385 2020
Defining genetic risk factors for scleroderma-associated interstitial lung disease : IRF5 and STAT4 gene variants are associated with scleroderma while STAT4 is protective against scleroderma-associated interstitial lung disease. 61
31916109 2020
Mushroom poisoning with Scleroderma albidum: a case report with review of the literature. 61
31988772 2020
Calcinosis Cutis as the Initial Manifestation of Limited Scleroderma. 61
31985726 2020
Multicentric B-cell lymphoma with presumed paraneoplastic generalized cutaneous sclerosis in a dog. 61
31930629 2020
Inhibition of inositol kinase B controls acute and chronic graft-versus-host disease. 61
31697815 2020

Variations for Systemic Scleroderma

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

Expression for Systemic Scleroderma

Search GEO for disease gene expression data for Systemic Scleroderma.

Pathways for Systemic Scleroderma

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

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
11.47 TGFB1 FBN1 ELN
Show member pathways
5 11.34 TGFB1 ELN CCN2
7 11.11 TPO TGFB1 INS

GO Terms for Systemic Scleroderma

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 9.44 TPO TGFB1 SFTPD SELP SELE MIR21

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.77 TGFB1 SELP SELE CRP CD40LG
2 positive regulation of protein phosphorylation GO:0001934 9.71 TGFB1 MIR21 IFNG CCN2
3 negative regulation of gene expression GO:0010629 9.65 TGFB1 MIR21 IFNG CCN2 ACE
4 negative regulation of blood vessel diameter GO:0097756 9.48 INS CRP
5 cellular response to insulin-like growth factor stimulus GO:1990314 9.46 TGFB1 FBN1
6 leukocyte migration involved in inflammatory response GO:0002523 9.43 SELE CCR6
7 leukocyte cell-cell adhesion GO:0007159 9.33 SELP SELE CD40LG
8 connective tissue development GO:0061448 9.32 TGFB1 CCN2
9 positive regulation of gene expression GO:0010628 9.1 TGFB1 MIR21 INS IFNG CRP CCN2
10 mononuclear cell proliferation GO:0032943 8.96 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

Sources for Systemic Scleroderma

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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