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 53 25 15 38 17 72
Scleroderma 12 75 53 59 6 43 15 17 72
Progressive Systemic Sclerosis 12 75 53 33
Systemic Sclerosis 12 53 25 15
Scleroderma, Systemic 53 44
Scleroderma, Familial Progressive 72
Familial Progressive Scleroderma 25
Progressive Scleroderma 25
Scleroderma, Localized 44
Scleroderma Syndrome 12
Diffuse Scleroderma 72
Scleroderma Disease 55
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: 59  
Rare skin diseases

External Ids:

Disease Ontology 12 DOID:418 DOID:419
ICD9CM 35 710.1
SNOMED-CT 68 89155008
ICD10 33 M34.0 M34.9
UMLS via Orphanet 73 C0011644 C0852007
Orphanet 59 ORPHA801
UMLS 72 C0011644 C0036421 C1258104 more

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 diffuse scleroderma, 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 Cell adhesion molecules (CAMs) and Photodynamic therapy-induced NF-kB survival signaling. 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 muscle weakness and nausea and vomiting

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 : 53 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 : 43 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 : 75 Systemic scleroderma, also called diffuse scleroderma or systemic sclerosis, is an autoimmune disease of... 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 1295)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 33.9 ICOSLG FBN1 CCR6 CCN2
2 diffuse scleroderma 33.2 TRIM21 TOP1 TGFB1
3 limited scleroderma 32.5 TOP1 SNRNP70 CENPB CCR6 CCN2
4 pulmonary fibrosis, idiopathic 31.2 TGFB1 SFTPD IFNG CCN2
5 peripheral vascular disease 31.2 SELP SELE CRP ACE
6 idiopathic interstitial pneumonia 31.1 TGFB1 SFTPD IFNG CCN2
7 end stage renal failure 30.9 TGFB1 CRP ACE
8 crest syndrome 30.8 TOP1 CENPB
9 pneumonia 30.8 SFTPD CRP CD40LG
10 interstitial lung disease 30.7 TGFB1 SFTPD IFNG
11 peripheral artery disease 30.7 SELP CRP ACE
12 vasculitis 30.7 SELE CRP CD40LG
13 silicosis 30.6 TGFB1 SFTPD ACE
14 stiff skin syndrome 30.6 TGFB1 FBN1 CCN2
15 pulmonary sarcoidosis 30.5 SFTPD IFNG ACE
16 vascular disease 30.5 SELP SELE CRP ACE
17 intermittent claudication 30.5 SELP CRP ACE
18 carotid artery disease 30.4 SELE CRP ACE
19 respiratory failure 30.4 SFTPD CRP ACE
20 arteriosclerosis 30.4 SELP SELE CRP ACE
21 heart valve disease 30.4 TGFB1 FBN1 CRP ACE
22 antiphospholipid syndrome 30.3 SELP SELE CD40LG
23 arteries, anomalies of 30.2 SELP SELE CRP ACE
24 intermediate coronary syndrome 30.2 SELP CRP ACE
25 iga glomerulonephritis 30.2 TGFB1 CD40LG ACE
26 carotid stenosis 30.2 SELP CRP ACE
27 proteasome-associated autoinflammatory syndrome 1 30.2 SELP SELE IFNG CRP
28 cerebrovascular disease 30.2 SELP SELE CRP ACE
29 subacute cutaneous lupus erythematosus 30.2 TRIM21 ACE
30 stroke, ischemic 30.1 SELP FBN1 CRP ACE
31 aortic valve disease 1 30.1 TGFB1 FBN1 CRP ACE
32 chagas disease 30.1 TGFB1 IFNG ACE
33 systemic lupus erythematosus 30.0 TRIM21 TGFB1 SNRNP70 SELE IFNG CRP
34 rheumatoid arthritis 30.0 TGFB1 SELE IFNG CRP CD40LG
35 coronary artery anomaly 30.0 SELP CRP ACE
36 dyskinesia of esophagus 29.9 TOP1 CENPB
37 coronary heart disease 1 29.9 SELP CRP ACE
38 facial hemiatrophy 29.9 TRIM21 SNRNP70 EXOSC10
39 rheumatic disease 29.7 TRIM21 TOP1 IFNG CRP CENPB CD40LG
40 scleritis 29.5 SELE IFNG
41 muscular disease 29.3 TRIM21 SNRNP70 EXOSC10 CRP
42 collagen disease 29.2 TRIM21 TOP1 SNRNP70 FBN1 EXOSC10 CRP
43 connective tissue disease 29.1 TOP1 SNRNP70 SFTPD IFNG FBN1 FBL
44 pulmonary systemic sclerosis 12.5
45 potocki-shaffer syndrome 12.3
46 peeling skin syndrome 1 12.2
47 scleroderma, familial progressive 12.2
48 peeling skin syndrome 12.1
49 generalized peeling skin syndrome 12.1
50 reynolds syndrome 12.0

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:

59 32 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
3 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
4 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
5 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
6 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
7 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
8 acrocyanosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001063
9 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
10 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
11 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
12 xerostomia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000217
13 gingivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000230
14 restrictive ventilatory defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0002091
15 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
16 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
17 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
18 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
19 gangrene 59 32 hallmark (90%) Very frequent (99-80%) HP:0100758
20 cheilitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100825
21 bowel incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0002607
22 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
23 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
24 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
25 cranial nerve paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0006824
26 pulmonary fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0002206
27 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
28 myocardial infarction 59 32 frequent (33%) Frequent (79-30%) HP:0001658
29 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
30 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
31 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
32 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
33 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
34 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
35 chondrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000934
36 urticaria 59 32 frequent (33%) Frequent (79-30%) HP:0001025
37 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
38 pericarditis 59 32 frequent (33%) Frequent (79-30%) HP:0001701
39 abnormal pattern of respiration 59 32 frequent (33%) Frequent (79-30%) HP:0002793
40 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
41 myositis 59 32 frequent (33%) Frequent (79-30%) HP:0100614
42 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
43 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
44 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
45 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
46 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
47 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
48 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
49 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
50 congestive heart failure 59 32 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 homeostasis/metabolism MP:0005376 10.15 ACE CCN2 CCR6 CD40LG CRP FBN1
2 hematopoietic system MP:0005397 10.1 ACE CCR6 CD40LG FBN1 IFNG SELE
3 cardiovascular system MP:0005385 10.09 ACE CCN2 CD40LG CRP FBN1 IFNG
4 immune system MP:0005387 10.06 ACE CCR6 CD40LG CRP FBN1 IFNG
5 mortality/aging MP:0010768 9.97 ACE CCN2 CD40LG CENPB FBL FBN1
6 integument MP:0010771 9.86 CCN2 CD40LG FBN1 IFNG SELE SELP
7 renal/urinary system MP:0005367 9.5 ACE CD40LG FBN1 IFNG SELP TGFB1
8 respiratory system MP:0005388 9.17 CCN2 FBN1 IFNG SELE SELP SFTPD

Drugs & Therapeutics for Systemic Scleroderma

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

(show top 50) (show all 335)
# 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
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Macitentan Approved Phase 4 441798-33-0
14 Platelet Aggregation Inhibitors Phase 4
15 Neurotransmitter Agents Phase 4
16 Phosphodiesterase Inhibitors Phase 4
17 Phosphodiesterase 5 Inhibitors Phase 4
18 Vasodilator 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 Phosphodiesterase 3 Inhibitors Phase 4
26 Bronchodilator Agents Phase 4
27 Adrenergic Agonists Phase 4
28 Adrenergic alpha-Agonists Phase 4
29 Anti-Bacterial Agents Phase 4
30 Anti-Infective Agents Phase 4
31 Antibiotics, Antitubercular Phase 4
32 Immunosuppressive Agents Phase 4
33 Antifungal Agents Phase 4
34 Cyclooxygenase Inhibitors Phase 4
35 Fibrinolytic Agents Phase 4
36 Antipyretics Phase 4
37 Endothelin Receptor Antagonists Phase 4
38 Endothelin A Receptor Antagonists Phase 4
39 Omega 3 Fatty Acid Phase 4
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
Lactulose Approved Phase 3 4618-18-2 11333
45 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
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0

Interventional clinical trials:

(show top 50) (show all 457)
# 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 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 Recruiting NCT03388255 Phase 4 Polydeoxyribonucleotides
15 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
16 Evaluation of Effectiveness of Acetylsalicylic Acid on Markers of Vascular Dysfunction in Patients With Systemic Sclerosis Enrolling by invitation NCT03558854 Phase 4 Acetylsalicylic acid;Placebo oral capsule
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 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
26 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
27 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
28 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
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 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)
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 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 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
46 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
47 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
48 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
49 A Randomized, Open-Label, Phase II Multicenter Study of High-Dose Immunosuppressive Therapy Using Total Body Irradiation, Cyclophosphamide, ATGAM, and Autologous Transplantation With Auto-CD34+HPC Versus Intravenous Pulse Cyclophosphamide for the Treatment of Severe Systemic Sclerosis (SCSSc-01) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
50 Evaluation of Rituximab in Systemic Sclerosis Associated Polyarthritis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)

Search NIH Clinical Center for Systemic Scleroderma

Inferred drug relations via UMLS 72 / NDF-RT 51 :

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, Testes, Endothelial, Kidney, Breast

Publications for Systemic Scleroderma

Articles related to Systemic Scleroderma:

(show top 50) (show all 13461)
# Title Authors PMID Year
Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease. 17
31112379 2019
The role of adipokines in systemic sclerosis: a missing link? 17
30806766 2019
Systemic Sclerosis Pathogenesis and Emerging Therapies, beyond the Fibroblast. 17
30809542 2019
Prostacyclin derivatives prevent the fibrotic response to TGF-beta by inhibiting the Ras/MEK/ERK pathway. 9 38
12368229 2002
DNA-specific antiidiotypic antibodies in the sera of patients with autoimmune diseases. 9 38
1468555 1992
Autoantibodies against nuclear, nucleolar, and mitochondrial antigens in systemic sclerosis (scleroderma). 9 38
2406806 1990
Training and support needs of scleroderma support group facilitators: the North American Scleroderma Support Group Facilitators Survey. 38
29696997 2019
Comorbidity burden in systemic sclerosis: beyond disease-specific complications. 38
31300848 2019
A randomised controlled trial of wax baths as an additive therapy to hand exercises in patients with systemic sclerosis. 38
30318128 2019
Predictors of disease worsening defined by progression of organ damage in diffuse systemic sclerosis: a European Scleroderma Trials and Research (EUSTAR) analysis. 38
31227488 2019
Low RUNX3 expression alters dendritic cell function in patients with systemic sclerosis and contributes to enhanced fibrosis. 38
31126957 2019
Consensus-based recommendations for the management of juvenile localised scleroderma. 38
30826775 2019
Localised scleroderma en coup de sabre affecting the skin, dentition and bone tissue within craniofacial neural crest fields. Clinical and radiographic study of six patients. 38
30847683 2019
Basic Calcium Phosphate Crystal Periarthritis Involving the Distal Interphalangeal Joints in a Patient with Systemic Lupus Erythematosus. 38
31366882 2019
Eosinophilic fasciitis associated with myositis: Report of four cases and review of the literature. 38
30592019 2019
Systemic sclerosis and urinary symptoms: a complex pathophysiology. 38
31376088 2019
[Very early and early systemic sclerosis: An update]. 38
30981561 2019
Myeloablation followed by autologous stem cell transplantation normalises systemic sclerosis molecular signatures. 38
31391177 2019
[Altered serum cytokine expression profile in systemic sclerosis and its regulatory mechanisms]. 38
31420628 2019
Systemic Sclerosis Serum Steers the Differentiation of Adipose-Derived Stem Cells Toward Profibrotic Myofibroblasts: Pathophysiologic Implications. 38
31430950 2019
Can patient-reported symptoms be used to measure disease activity in systemic sclerosis? 38
31421031 2019
[Anorectal manifestations in systemic diseases]. 38
31400822 2019
Evolving Symptom Characteristics of Raynaud's Phenomenon in Systemic Sclerosis and Their Association With Physician and Patient-Reported Assessments of Disease Severity. 38
30133174 2019
Correction: Development and validation of the Scleroderma Clinical Trials Consortium Damage Index (SCTC-DI): a novel instrument to quantify organ damage in systemic sclerosis. 38
31296652 2019
Common Causes of Pain in Systemic Sclerosis: Frequency, Severity, and Relationship to Disease Status, Depression, and Quality of Life. 38
31103501 2019
Ocular involvement in systemic sclerosis: A systematic literature review, it's not all scleroderma that meets the eye. 38
30660382 2019
Using transitional changes on HRCT to monitor the impact of cyclophosphamide or mycophenolate on systemic sclerosis-related interstitial lung disease. 38
31430058 2019
Investigation of anti-DFS70 antibody in patients with systemic autoimmune rheumatic diseases. 38
31396837 2019
Leveraging Google Trends to investigate the global public interest in rheumatoid arthritis. 38
30955063 2019
Remodeling of calcinosis cutis in a patient with scleroderma overlap syndrome. 38
31407385 2019
Diagnosis and management of linear scleroderma in children. 38
31157654 2019
Association between frontal fibrosing alopecia and linear scleroderma "coup de sabre". 38
30613936 2019
Revised European Scleroderma Trials and Research Group Activity Index is the best predictor of short-term severity accrual. 38
31422354 2019
Identification of Cysteine-Rich Angiogenic Inducer 61 as a Potential Antifibrotic and Proangiogenic Mediator in Scleroderma. 38
30884213 2019
[Sclerosing skin diseases]. 38
31292667 2019
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy. 38
31268248 2019
First confirmed case of bovine besnoitiosis in Rwanda. 38
31303240 2019
The identification of CCL18 as biomarker of disease activity in localized scleroderma. 38
31006523 2019
Clinical Management of Cutaneous Adverse Events in Patients on Chemotherapy: A National Consensus Statement by the Spanish Academy of Dermatology and Venereology and the Spanish Society of Medical Oncology. 38
31010573 2019
Levodopa-induced skin disorders in patients with Parkinson disease: a systematic literature review approach. 38
31338806 2019
T and B lymphocytes in fibrosis and systemic sclerosis. 38
31369432 2019
Interleukin-17 pathways in systemic sclerosis-associated fibrosis. 38
31073660 2019
Evolving insights into the cellular and molecular pathogenesis of fibrosis in systemic sclerosis. 38
30876809 2019
Systemic sclerosis - the dermatological perspective. 38
31364293 2019
Chronic Q fever associated with systemic sclerosis. 38
31077590 2019
Association of simple hematological parameters with disease manifestations, activity, and severity in patients with systemic sclerosis. 38
31317426 2019
Outcomes of patients with systemic sclerosis treated with rituximab in contemporary practice: a prospective cohort study. 38
30967395 2019
Translational optical coherence elastography for assessment of systemic sclerosis. 38
31343837 2019
Systemic sclerosis medications and risk of scleroderma renal crisis. 38
31345158 2019
IL-17A dissociates inflammation from fibrogenesis in systemic sclerosis (scleroderma). 38
31276679 2019

Variations for Systemic Scleroderma

ClinVar genetic disease variations for Systemic Scleroderma:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC39A13 NM_001128225.3(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity 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

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 external side of plasma membrane GO:0009897 9.35 SELP ICOSLG CD40LG CCR6 ACE
2 extracellular space GO:0005615 9.32 TGFB1 SFTPD SELP SELE IFNG FBN1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.71 TGFB1 IFNG CCN2 ACE
2 inflammatory response GO:0006954 9.55 TGFB1 SELP SELE CRP CD40LG
3 leukocyte tethering or rolling GO:0050901 9.48 SELP SELE
4 regulation of regulatory T cell differentiation GO:0045589 9.46 TGFB1 IFNG
5 positive regulation of superoxide anion generation GO:0032930 9.43 TGFB1 CRP
6 negative regulation of interleukin-17 production GO:0032700 9.37 TGFB1 IFNG
7 leukocyte migration involved in inflammatory response GO:0002523 9.32 SELE CCR6
8 cellular response to insulin-like growth factor stimulus GO:1990314 9.26 TGFB1 FBN1
9 leukocyte cell-cell adhesion GO:0007159 9.13 SELP SELE CD40LG
10 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 sialic acid binding GO:0033691 8.96 SELP SELE
2 oligosaccharide binding GO:0070492 8.62 SELP SELE

Sources for Systemic Scleroderma

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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