MCID: SYS005
MIFTS: 73

Systemic Scleroderma

Categories: Bone diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Systemic Scleroderma

MalaCards integrated aliases for Systemic Scleroderma:

Name: Systemic Scleroderma 11 19 42 14 36 16 71 75
Scleroderma 11 19 58 75 5 41 14 16 71
Progressive Systemic Sclerosis 11 19 75 31
Systemic Sclerosis 11 19 42 14
Scleroderma, Systemic 19 43
Scleroderma, Familial Progressive 71
Familial Progressive Scleroderma 42
Progressive Scleroderma 42
Scleroderma, Localized 43
Scleroderma Syndrome 11
Diffuse Scleroderma 71
Scleroderma Disease 53
Dermatosclerosis 11

Characteristics:


Prevelance:

Scleroderma: 1-9/100000 (Worldwide, Australia) 1-5/10000 (Worldwide, Australia) >1/1000 (Specific population) 58

Age Of Onset:

Scleroderma: All ages 58

Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Systemic Scleroderma

MedlinePlus Genetics: 42 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 scleroderma, familial progressive and diffuse cutaneous systemic sclerosis, 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 Akt Signaling and PAK Pathway. The drugs Bosentan and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are arthralgia and myalgia

MedlinePlus: 41 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

GARD: 19 Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The symptoms usually begin with episodes of Raynaud's phenomenon. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. The fibrosis can also affect internal organs, including the esophagus, heart, lungs, and kidneys.

Orphanet: 58 Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).

Disease Ontology 11 Systemic scleroderma: A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.

Scleroderma: A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.

Wikipedia 75 Progressive systemic sclerosis: Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by... more...

Scleroderma: Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels,... 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 1923)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 33.3 TOP1 EDN1 CENPB CCN2
2 diffuse cutaneous systemic sclerosis 33.2 CCR6 CCN2
3 diffuse scleroderma 32.3 TSSK1B TRIM21 TOP1 SNRNP70 EXOSC10 EDN1
4 limited scleroderma 32.2 TSSK1B TRIM21 TOP1 TNF SNRNP70 IL6
5 raynaud disease 31.7 TRIM21 SNRNP70 EDN1 CENPB
6 nutritional deficiency disease 31.4 IL6 H2AC18 CCR6
7 myocarditis 31.4 TNF IL6 IL17A EDN1 CD4
8 sjogren syndrome 31.3 TRIM21 ICOSLG CENPB CCR6
9 gastrointestinal system disease 31.3 MIR21 MIR151A MIR142 ICOSLG H2AC18 CCR6
10 deficiency anemia 31.3 TNF IL6 ICOSLG H2AC18 CD4 CCR6
11 crest syndrome 31.3 TOP1 SNRNP70 H2AC18 EXOSC10 CENPB
12 common cold 31.2 TNF IL6 IL17A ICOSLG CD4 CCR6
13 purpura 31.2 TNF IL6 IL17A
14 lymphoma, hodgkin, classic 31.1 MIR21 ICOSLG H2AC18 CCR6
15 collagen disease 31.1 TRIM21 SNRNP70 IL6 H2AC18 EXOSC10 CCR6
16 localized scleroderma 31.0 TSSK1B TOP1 TNF SNRNP70 IL6 IL17A
17 dermatitis 31.0 TNF IL6 IL17A CCR6
18 mixed connective tissue disease 31.0 TNF SNRNP70 IL6
19 gastritis 31.0 TNF IL6 IL17A CCR6
20 idiopathic interstitial pneumonia 31.0 TRIM21 TNF IL6 EXOSC10 CD4
21 pulmonary hypertension 31.0 TNF MIR21 IL6 EDN1 CCN2
22 esophageal disease 31.0 MIR21 MIR151A MIR142 ICOSLG H2AC18 CCR6
23 spondylitis 31.0 TNF IL6 IL17A CCR6
24 goodpasture syndrome 30.9 H2AC18 CD4 CCR6
25 aplastic anemia 30.9 TNF IL6 H2AC18 CD4 CCR6
26 thrombocytopenia 30.9 TRIM21 TOP1 TNF MIR21 IL6 EDN1
27 juvenile rheumatoid arthritis 30.9 TNF IL6 ICOSLG CD4 CCR6
28 myositis 30.9 TRIM21 TNF IL6 IL17A ICOSLG
29 telangiectasis 30.9 TRIM21 TOP1 TNF SNRNP70 H2AC18 EXOSC10
30 aspiration pneumonia 30.9 TNF IL6 CD4
31 autoimmune disease 30.9 TRIM21 TNF IL6 IL17A ICOSLG CENPB
32 lipid metabolism disorder 30.9 TNF MIR21 IL6 H2AC18 EDN1 CCR6
33 esophageal candidiasis 30.9 IL17A CD4 CCR6
34 extrinsic allergic alveolitis 30.8 TNF CD4 CCR6
35 heart valve disease 30.8 MIR21 MIR142 IL6 H2AC18 EDN1
36 proliferative glomerulonephritis 30.8 ICOSLG H2AC18 CCR6
37 interstitial lung disease 30.8 TNF MIR21 MIR142 IL6 ICOSLG H2AC18
38 keratoconjunctivitis sicca 30.8 TRIM21 TNF ICOSLG CD4 CCR6
39 henoch-schoenlein purpura 30.8 TNF IL6 ICOSLG CD4 CCR6
40 myeloma, multiple 30.8 MIR21 MIR142 IL6 ICOSLG H2AC18 CCR6
41 thrombocytopenia due to platelet alloimmunization 30.8 ICOSLG CD4 CCR6
42 bronchiolitis obliterans 30.8 TNF IL6 IL17A EDN1
43 skin carcinoma 30.8 TNF MIR21 ICOSLG H2AC18 CD4 CCR6
44 inflammatory bowel disease 1 30.8 TNF IL6 IL17A H2AC18 CCR6
45 takayasu arteritis 30.8 TNF IL6 EDN1
46 human cytomegalovirus infection 30.7 TNF IL6 IL17A CD4 CCR6
47 severe covid-19 30.7 TNF MIR21 IL6 IL17A CD4 CCR6
48 lymphoma, mucosa-associated lymphoid type 30.7 MIR142 ICOSLG CD4 CCR6
49 lung disease 30.7 TNF MIR21 MIR142 IL6 H2AC18 EDN1
50 multiple sclerosis 30.7 TNF MIR21 MIR142 IL6 IL17A CD4

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 Disease
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 30 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002829
2 myalgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003326
3 raynaud phenomenon 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030880
4 cutaneous sclerotic plaque 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031359
5 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
6 myopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003198
7 elevated circulating creatine kinase concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0003236
8 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000160
9 sclerodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0011838
10 finger swelling 58 30 Frequent (33%) Frequent (79-30%)
HP:0025131
11 anti-topoisomerase i antibody positivity 30 Frequent (33%) HP:0030859
12 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
13 arthritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001369
14 flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001371
15 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
16 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100543
17 hypohidrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000966
18 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
19 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
20 dyspnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002094
21 uveitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000554
22 pericarditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001701
23 myocarditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012819
24 osteomyelitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002754
25 keratitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000491
26 headache 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002315
27 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
28 pruritus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000989
29 irregular hyperpigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007400
30 syncope 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001279
31 intestinal bleeding 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002584
32 trigeminal neuralgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100661
33 pulmonary fibrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002206
34 episcleritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100534
35 acute kidney injury 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001919
36 chronic kidney disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012622
37 abnormal large intestine morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002250
38 spotty hypopigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005590
39 barrett esophagus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100580
40 sensorimotor neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007141
41 abnormality of the small intestine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002244
42 osteolytic defects of the phalanges of the hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009771
43 right ventricular failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001708
44 hyperintensity of cerebral white matter on mri 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030890
45 calcinosis cutis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025520
46 interstitial cardiac fibrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031329
47 gastrointestinal telangiectasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002604
48 acral ulceration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006121
49 abnormal phalangeal joint morphology of the hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006261
50 digital pitting scar 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031293

UMLS symptoms related to Systemic Scleroderma:


pruritus; exanthema; hidebound skin

Drugs & Therapeutics for Systemic Scleroderma

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

(show top 50) (show all 290)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
2
Metronidazole Approved Phase 4 443-48-1, 69198-10-3 4173
3
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
4
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
5
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
6
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
7 Phosphodiesterase Inhibitors Phase 4
8 Phosphodiesterase 5 Inhibitors Phase 4
9 Endothelin Receptor Antagonists Phase 4
10 Anti-Inflammatory Agents, Non-Steroidal Phase 4
11 Antiprotozoal Agents Phase 4
12 Antiparasitic Agents Phase 4
13 Fibrinolytic Agents Phase 4
14 Antipyretics Phase 4
15 Cyclooxygenase Inhibitors Phase 4
16
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
17
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 581 12035
18
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
19
Domperidone Approved, Investigational, Vet_approved Phase 3 57808-66-9 3151
20
Iloprost Approved, Investigational Phase 3 78919-13-8 6443959 6435378 5311181
21
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
22
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
23
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
24
Esomeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6, 119141-88-7 9568614 4594
25
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
26
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
27
Prilocaine Approved Phase 3 721-50-6 4906
28
Lactulose Approved Phase 3 4618-18-2 11333
29
Clopidogrel Approved Phase 2, Phase 3 120202-66-6, 113665-84-2 60606
30
Brodalumab Approved, Investigational Phase 3 1174395-19-7
31
Nintedanib Approved Phase 3 656247-17-5 135423438 9809715
32
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
33
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
34
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
35
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 4894 5755
36
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
37
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
38
Macitentan Approved Phase 3 441798-33-0 16004692
39
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
40
Rituximab Approved Phase 2, Phase 3 174722-31-7
41
Coenzyme M Approved, Investigational Phase 2, Phase 3 3375-50-6 598 23662354
42
Fludarabine Approved Phase 2, Phase 3 75607-67-9, 21679-14-1 30751 657237
43
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
44
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
45
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
46
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181
47
Fasudil Investigational Phase 3 103745-39-7 3547
48
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
49
Palifosfamide Investigational Phase 2, Phase 3 31645-39-3 100427
50
Ajulemic acid Investigational Phase 3 137945-48-3 11689875 3083542

Interventional clinical trials:

(show top 50) (show all 515)
# 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 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
5 Evaluation of Effectiveness of Acetylsalicylic Acid on Markers of Vascular Dysfunction in Patients With Systemic Sclerosis Completed NCT03558854 Phase 4 Acetylsalicylic acid;Placebo oral capsule
6 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
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 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
9 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
10 Efficacy and Safety of Baricitinib in Systemic Sclerosis: a Phase IV, Double-blinded, Controlled Study. Recruiting NCT05300932 Phase 4 Baricitinib;Cyclophosphamide
11 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 Terminated NCT03388255 Phase 4 Polydeoxyribonucleotides
12 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
13 A Prospective Study of the Utility of Intraoperative, Quantitative Indocyanine Green Angiography in Microvascular Surgery for Systemic Scerlosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
14 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
15 CompRehensive Phenotypic Characterization of Patients With Scleroderma-Associated Interstitial Lung DiseasE and Pulmonary Hypertension (PH): The CRuSADE PH Study Unknown status NCT03726398 Phase 2, Phase 3 Opsumit 10 Mg Tablet
16 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
17 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
18 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)
19 A Phase III, Randomized, Double-blind, Placebo Controlled, Multicenter Clinical Trial to Evaluate the Efficacy and Safety of Pirfenidone in Subjects With Systemic Sclerosis-associated Interstitial Lung Disease (SSc-ILD) Unknown status NCT03856853 Phase 3 Pirfenidone
20 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
21 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
22 Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
23 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)
24 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
25 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
26 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
27 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
28 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
29 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
30 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
31 A Randomized, Double Blind Controlled Trial Comparing Rituximab Against Intravenous Cyclophosphamide in Connective Tissue Disease Associated Interstitial Lung Disease Completed NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
32 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)
33 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
34 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
35 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
36 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
37 Multicenter, Double-Blind, Randomized, Placebo-Controlled, Parallel Group, Study to Assess Efficacy of Botulinum Toxin A in Adult Subjects With Raynaud Phenomenon Secondary to Systemic Sclerosis Completed NCT03717961 Phase 3 BOTOX® solution;Placebo group
38 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
39 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
40 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
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 Multicenter, Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study Evaluating the Safety and Efficacy of Intravenous Iloprost in Subjects With Systemic Sclerosis Experiencing Symptomatic Digital Ischemic Episodes (AURORA Study) Completed NCT04040322 Phase 3 Placebo IV infusion;Iloprost Injection, for intravenous use
44 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
45 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
46 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)
47 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
48 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
49 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]
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 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

Genetic Tests for Systemic Scleroderma

Anatomical Context for Systemic Scleroderma

Organs/tissues related to Systemic Scleroderma:

MalaCards : Skin, Lung, Heart, Kidney, Endothelial, T Cells, Small Intestine

Publications for Systemic Scleroderma

Articles related to Systemic Scleroderma:

(show top 50) (show all 27882)
# Title Authors PMID Year
1
Thyroid Disorders in Patients with Systemic Sclerosis: Biochemical and Sonographic Characteristics. A Prospective Cohort Study. 62 41
36436040 2022
2
Exploring the effects of a combined exercise programme on pain and fatigue outcomes in people with systemic sclerosis: study protocol for a large European multi-centre randomised controlled trial. 62 41
36443836 2022
3
Photoacoustic imaging is a novel tool to measure finger artery structure and oxygenation in patients with SSc. 62 41
36443311 2022
4
Prostacyclin derivatives prevent the fibrotic response to TGF-beta by inhibiting the Ras/MEK/ERK pathway. 53 62
12368229 2002
5
DNA-specific antiidiotypic antibodies in the sera of patients with autoimmune diseases. 53 62
1468555 1992
6
Autoantibodies against nuclear, nucleolar, and mitochondrial antigens in systemic sclerosis (scleroderma). 53 62
2406806 1990
7
Myocardial Involvement in Systemic Autoimmune Rheumatic Diseases. 62
36424026 2023
8
Total glucosides of paeony alleviates scleroderma by inhibiting type I interferon responses. 62
36334818 2023
9
Rheumatological manifestations of chronic graft versus host disease - Case series. 62
36371928 2023
10
Using the Bleomycin-Induced Model of Fibrosis to Study the Contribution of CCN Proteins to Scleroderma Fibrosis. 62
36370359 2023
11
Pulmonary Arterial Hypertension in Connective Tissue Diseases Beyond Systemic Sclerosis. 62
36435572 2023
12
Autoimmune conditions and pancreatic cancer risk in older American adults. 62
36059225 2023
13
Asymmetric dimethylarginine correlates with worsening peripheral microangiopathy in systemic sclerosis. 62
36374797 2023
14
Association between oxygen delivery and digital ulcers in systemic sclerosis. 62
36374796 2023
15
Cardiovascular Manifestations of Systemic Sclerosis: An Overview of Pathophysiology, Screening Modalities, and Treatment Options. 62
34619709 2023
16
Study the Relationship of MDCT Staging in Disease Extent with the Systemic Sclerosis Disease Parameters. 62
36435556 2022
17
Appropriate immunoassay systems are needed to evaluate various anticentromere antibodies as biomarkers for disease progression in systemic sclerosis. 62
36473535 2022
18
Response to "Subclinical interstitial lung disease in patients with systemic sclerosis. A pilot study on the role of ultrasound". 62
34764057 2022
19
Urinary incontinence in systemic sclerosis: a prospective multicentre cohort study. 62
35945297 2022
20
Correspondence on 'Safety and tolerability of nintedanib in patients with systemic sclerosis-associated interstitial lung disease: data from the SENSCIS trial'. 62
33023963 2022
21
Response to: 'Correspondence on 'Safety and tolerability of nintedanib in patients with systemic sclerosis-associated interstitial lung disease: data from the SENSCIS trial'' by Bredemeier. 62
33023957 2022
22
Systemic Sclerosis Association with Malignancy. 62
36121543 2022
23
Direct and indirect health-related costs of systemic sclerosis in New Zealand. 62
36135601 2022
24
Absolute decrease in regulatory T cells and low-dose interleukin-2 therapy: restoring and expanding regulatory T cells to treat systemic sclerosis: a 24-week study. 62
36184784 2022
25
Ultra-high frequency ultrasound for digital arteries: improving the characterization of vasculopathy in systemic sclerosis. 62
36335687 2022
26
Beneficial effects of nintedanib on cardiomyopathy in patients with systemic sclerosis: a pilot study. 62
36458921 2022
27
Crystalline silica exposure in patients with rheumatoid arthritis and systemic sclerosis: a nationwide cross-sectional survey. 62
36458909 2022
28
Association of HLA-DRB1*15:02:01, DQB1*05:01:24 and DPB1*13:01:01 in Thai patients with systemic sclerosis. 62
36054790 2022
29
Immune cell dysregulation as a mediator of fibrosis in systemic sclerosis. 62
36352098 2022
30
TGFB1 mRNA expression and frequency of the + 869T>C and + 915G>C genetic variants: impact on risk for systemic sclerosis. 62
36464760 2022
31
New-Onset Salt-and-Pepper Skin Changes Associated With Vaccination and Trauma in Systemic Sclerosis: Immunity Matters. 62
36455934 2022
32
Extension-elicited blanching of the dorsal phalanges in systemic sclerosis: A case series. 62
36411842 2022
33
Detection of Epstein-Barr virus in systemic sclerosis patients: A molecular and serological based study. 62
36102054 2022
34
Autoantibodies and Cancer Association: the Case of Systemic Sclerosis and Dermatomyositis. 62
35593962 2022
35
CD146 at the Interface between Oxidative Stress and the Wnt Signaling Pathway in Systemic Sclerosis. 62
35690141 2022
36
Continued treatment with nintedanib in patients with systemic sclerosis-associated interstitial lung disease: data from SENSCIS-ON. 62
35973804 2022
37
Ribosomal S6 Protein Kinase 2 Aggravates the Process of Systemic Scleroderma. 62
35853487 2022
38
Systemic sclerosis and vaccinations: a three-year register-based cohort study about vaccination rate and uptake from Liguria referral center, northwest Italy. 62
35258440 2022
39
Potential of Photon-Counting Detector CT for Radiation Dose Reduction for the Assessment of Interstitial Lung Disease in Patients With Systemic Sclerosis. 62
35640003 2022
40
Role of miR-155 in inflammatory autoimmune diseases: a comprehensive review. 62
36308539 2022
41
Concomitant extrahepatic autoimmune diseases do not compromise the long-term outcomes of primary biliary cholangitis. 62
35668014 2022
42
Capillary pathology with prominent basement membrane reduplication is the hallmark histopathological feature of scleromyositis. 62
35894636 2022
43
Thoracic Involvement in Systemic Autoimmune Rheumatic Diseases: Pathogenesis and Management. 62
35303257 2022
44
Long-term survival analysis of free flap reconstruction in patients with collagen vascular disorders. 62
36274012 2022
45
[Renal manifestations in connective tissue diseases]. 62
36348023 2022
46
Comparison of current methods for anti-dsDNA antibody detection and reshaping diagnostic strategies. 62
36373656 2022
47
High prevalence and risk factors for osteoporosis in 1839 patients with systemic sclerosis: a systematic review and meta-analysis. 62
36474110 2022
48
Nailfold capillaroscopy: tips and challenges. 62
36040673 2022
49
Cumulative Disease Damage and Anti-PM/Scl Antibodies Are Associated with a Heavy Burden of Calcinosis in Systemic Sclerosis. 62
36469337 2022
50
Narrow-band reflectance spectrophotometry and infrared thermography for assessment of skin lesions in localized scleroderma. 62
35925826 2022

Variations for Systemic Scleroderma

ClinVar genetic disease variations for Systemic Scleroderma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) SNV Uncertain Significance
196579 rs140574574 GRCh37: 11:47433573-47433573
GRCh38: 11:47412022-47412022

Expression for Systemic Scleroderma

LifeMap Discovery
Genes differentially expressed in tissues of Systemic Scleroderma patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 TET2 tet methylcytosine dioxygenase 2 Blood + 3.12 0.000
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:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 TNF IL6 IL17A CXCL16 CD4 CCR6
2
Show member pathways
13.09 CCN2 CCR6 CD4 CXCL16 IL17A IL6
3
Show member pathways
11.71 IL6 IL17A CD4
4 11.6 IL6 EDN1 CD4
5 11.58 TNF IL6 CD4
6 11.55 TNF IL6 ICOSLG
7 11.53 IL6 IL17A CD4
8 11.46 TNF MIR21 IL6
9
Show member pathways
11.46 TNF IL6 IL17A CD4
10 11.16 TNF IL17A CD4 CCR6
11 11.11 TNF IL6 IL17A
12 11.04 TNF IL6 CD4
13 11.01 TNF IL6 CCN2
14 10.94 TNF IL6 IL17A
15 10.87 TNF IL6 IL17A CXCL16 CCN2
16 10.86 TNF IL6 IL17A
17 10.72 TNF IL6 EDN1 CCN2
18
Show member pathways
10.16 TNF IL6

GO Terms for Systemic Scleroderma

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

# Name GO ID Score Top Affiliating Genes
1 response to activity GO:0014823 9.93 TNF IL6 EDN1
2 positive regulation of DNA-binding transcription factor activity GO:0051091 9.92 TRIM21 TNF IL6 EDN1
3 calcium-mediated signaling GO:0019722 9.86 CCR6 CD4 EDN1 TNF
4 positive regulation of vascular associated smooth muscle cell proliferation GO:1904707 9.8 TNF MIR21 EDN1
5 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.61 MIR21 IL6
6 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.55 TNF MIR21 IL6
7 negative regulation of bicellular tight junction assembly GO:1903347 9.54 TNF MIR142
8 positive regulation of neuroinflammatory response GO:0150078 9.35 TNF MIR142 IL6
9 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.17 TNF MIR21 IL6 IL17A

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.28 TNF IL6 IL17A EDN1 CXCL16

Sources for Systemic Scleroderma

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