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MCID: SYS005
MIFTS: 73

Systemic Scleroderma

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

About this section

MalaCards integrated aliases for Systemic Scleroderma:

Name: Systemic Scleroderma 12 20 43 15 37 17 70
Scleroderma 12 73 20 58 6 42 15 17 70
Progressive Systemic Sclerosis 12 73 20 32
Systemic Sclerosis 12 20 43 15
Scleroderma, Systemic 20 44
Scleroderma, Familial Progressive 70
Familial Progressive Scleroderma 43
Progressive Scleroderma 43
Scleroderma, Localized 44
Scleroderma Syndrome 12
Diffuse Scleroderma 70
Scleroderma Disease 54
Dermatosclerosis 12

Characteristics:

Orphanet epidemiological data:

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

Classifications:

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


Sources

Summaries for Systemic Scleroderma

About this section
MedlinePlus Genetics : 43 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 Toll-like Receptor Signaling Pathway and Allograft rejection. The drugs Bosentan and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and lung, and related phenotypes are arthralgia and myalgia

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.

GARD : 20 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 : 73 Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by... more...

Sources

Related Diseases for Systemic Scleroderma

About this section

Diseases in the Systemic Scleroderma family:

Scleroderma, Familial Progressive Localized Scleroderma

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

(show top 50) (show all 1493)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 33.1 TOP1 FBN1 FBL CCN2
2 diffuse cutaneous systemic sclerosis 32.9 CCR6 CCN2
3 limited scleroderma 32.5 TOP1 FBL CRP CCR6 CCN2 ACE
4 localized scleroderma 32.5 TGFB1 SELE CCN2
5 diffuse scleroderma 32.4 TOP1 TGFB1 FBL CCN2 ACE
6 nonspecific interstitial pneumonia 31.4 TGFB1 SFTPD IFNG
7 pulmonary fibrosis, idiopathic 31.3 TGFB1 SFTPD IFNG ELN CRP CCR6
8 peripheral vascular disease 31.3 SELP SELE H2AC18 CRP ACE
9 pulmonary fibrosis 31.3 TGFB1 SFTPD ELN CCN2
10 crest syndrome 31.3 TOP1 H2AC18 FBL
11 purpura 31.2 IFNG CRP ACE
12 diarrhea 31.2 TOP1 TGFB1 MLN IFNG CD40LG
13 atherosclerosis susceptibility 31.2 SELP SELE INS ELN CRP ACE
14 carpal tunnel syndrome 31.1 TGFB1 INS CCN2 ACE
15 sexual disorder 31.1 INS H2AC18 ACE
16 idiopathic interstitial pneumonia 31.1 TGFB1 SFTPD IFNG CCN2
17 lipid metabolism disorder 31.0 SELE INS CRP ACE
18 pericarditis 31.0 IFNG CRP ACE
19 collagen disease 31.0 SFTPD H2AC18 FBN1 ELN CRP CCR6
20 raynaud disease 31.0 TOP1 CRP ACE
21 end stage renal disease 31.0 TGFB1 INS CRP ACE
22 interstitial lung disease 31.0 TGFB1 SFTPD IFNG CRP
23 telangiectasis 30.9 TOP1 H2AC18 FBN1 FBL ELN
24 pancytopenia 30.9 IFNG H2AC18 CRP ACE
25 thrombocytopenia 30.9 TOP1 TGFB1 SELP SELE IFNG CRP
26 spondylitis 30.9 IFNG ICOSLG CRP CCR6
27 spondyloarthropathy 1 30.9 ICOSLG CRP CD40LG CCR6
28 bronchiolitis obliterans 30.9 TGFB1 SFTPD IFNG CRP
29 ileus 30.9 MLN INS CRP
30 lung disease 30.9 TGFB1 SFTPD INS IFNG ELN CRP
31 acute myocardial infarction 30.9 SELP SELE CRP ACE
32 aortic valve insufficiency 30.8 FBN1 ELN CRP ACE
33 pre-eclampsia 30.8 SELP SELE INS CRP ACE
34 urinary tract infection 30.8 TGFB1 CRP ACE
35 deficiency anemia 30.8 SELP INS ICOSLG H2AC18 CRP CCR6
36 pelvic organ prolapse 30.8 FBN1 ELN CCR6
37 dyskinesia of esophagus 30.8 TOP1 MLN FBL
38 acute myocarditis 30.8 H2AC18 CRP ACE
39 aspiration pneumonia 30.8 INS CRP ACE
40 peripheral artery disease 30.8 SELP CRP ACE
41 systemic lupus erythematosus 30.8 TGFB1 SELP SELE INS IFNG ICOSLG
42 herpes zoster 30.7 IFNG ICOSLG CCR6
43 nephrosclerosis 30.7 TGFB1 INS CCN2 ACE
44 constrictive pericarditis 30.7 IFNG CRP ACE
45 pneumonia 30.7 SFTPD IFNG CRP CD40LG ACE
46 cellulitis 30.7 INS CRP CCR6
47 dermatitis, atopic 30.7 SELP SELE IFNG ICOSLG CCR6
48 paralytic ileus 30.7 MLN INS CRP
49 coronary heart disease 1 30.7 INS CRP ACE
50 homocysteinemia 30.7 FBN1 ELN CRP

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


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

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



Diseases related to Systemic Scleroderma
Sources

Symptoms & Phenotypes for Systemic Scleroderma

About this section

Human phenotypes related to Systemic Scleroderma:

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

UMLS symptoms related to Systemic Scleroderma:


pruritus; exanthema; hidebound skin

MGI Mouse Phenotypes related to Systemic Scleroderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ACE CCN2 CD40LG CRP FBN1 IFNG
2 integument MP:0010771 9.28 CCN2 CD40LG FBN1 IFNG INS PLOD2
Sources

Drugs & Therapeutics for Systemic Scleroderma

About this section

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

(show top 50) (show all 273)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
2
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
3
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
4
Metronidazole Approved Phase 4 443-48-1 4173
5
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
6
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
7 Endothelin Receptor Antagonists Phase 4
8 Phosphodiesterase 5 Inhibitors Phase 4
9 Respiratory System Agents Phase 4
10 Phosphodiesterase 3 Inhibitors Phase 4
11 Anti-Asthmatic Agents Phase 4
12 Bronchodilator Agents Phase 4
13 Antiparasitic Agents Phase 4
14 Antiprotozoal Agents Phase 4
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4
16 Platelet Aggregation Inhibitors Phase 4
17 Fibrinolytic Agents Phase 4
18 Cyclooxygenase Inhibitors Phase 4
19 Antipyretics Phase 4
20
Iloprost Approved, Investigational Phase 2, Phase 3 78919-13-8 6443959
21
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
22
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
23
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
24
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
25
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
26
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
27
Prilocaine Approved Phase 3 721-50-6 4906
28
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
29
Lactulose Approved Phase 3 4618-18-2 11333
30
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
31
Brodalumab Approved, Investigational Phase 3 1174395-19-7
32
Nintedanib Approved Phase 3 656247-17-5 56843413
33
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
34
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
35
Mesna Approved, Investigational Phase 3 3375-50-6 598
36
Macitentan Approved Phase 3 441798-33-0
37
Lenograstim Approved, Investigational Phase 3 135968-09-1
38
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
39
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
40
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
41
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
42
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
43
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
44
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
45
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
46
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
47
Leuprolide Approved, Investigational Phase 3 53714-56-0 3911 657181
48
Fasudil Investigational Phase 3 103745-39-7
49
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
50 Antiviral Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 437)
# 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 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud's Phenomenon Completed NCT00048776 Phase 4 Pletal
5 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
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 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
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 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 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
11 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
12 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
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 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
16 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
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 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
19 Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
20 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)
21 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
22 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
23 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)
24 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
25 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
26 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
27 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
28 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
29 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
30 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
31 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
32 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
33 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
34 Phase III Laboratory Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, in the Treatment of Raynaud's Phenomenon Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin
35 Long-term Bosentan Open Label Extension of the AC-052-331 Study in Systemic Sclerosis Patients With Ischemic Digital Ulcers Completed NCT00319696 Phase 3 Bosentan 62.5 mg;Bosentan 125 mg
36 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)
37 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
38 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
39 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
40 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
41 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
42 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)
43 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
44 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
45 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
46 A Randomized Controlled Trial to Compare the Efficacy of Oral Mycophenolate Mofetil With Placebo in Patients With Systemic Sclerosis Related Early Interstitial Lung Disease Completed NCT02896205 Phase 3 Mycophenolate mofetil;Placebo
47 Evaluation of Rituximab in Systemic Sclerosis Associated Polyarthritis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
48 Intravenous Cyclophosphamide for the Treatment of Systemic Sclerosis Associated Interstitial Lung Disease Completed NCT01570764 Phase 3 Cyclophosphamide;Placebo
49 A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy and Safety of Tocilizumab Versus Placebo in Patients With Systemic Sclerosis Completed NCT02453256 Phase 3 Placebo;Tocilizumab
50 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

Search NIH Clinical Center for Systemic Scleroderma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

Sources

Genetic Tests for Systemic Scleroderma

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Sources

Anatomical Context for Systemic Scleroderma

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MalaCards organs/tissues related to Systemic Scleroderma:

40
Skin, Endothelial, Lung, Heart, T Cells, Thyroid, Eye
Sources

Publications for Systemic Scleroderma

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Articles related to Systemic Scleroderma:

(show top 50) (show all 14204)
# Title Authors PMID Year
1
Identification of key genes and immune profile in limited cutaneous systemic sclerosis-associated pulmonary arterial hypertension by bioinformatics analysis. 42
33539912 2021
2
Candidate Genes Identified in Systemic Sclerosis-Related Pulmonary Arterial Hypertension Were Associated with Immunity, Inflammation, and Cytokines. 42
33680092 2021
3
Systemic sclerosis in sub-Saharan Africa: a systematic review. 42
33447331 2020
4
Prostacyclin derivatives prevent the fibrotic response to TGF-beta by inhibiting the Ras/MEK/ERK pathway. 54 61
12368229 2002
5
DNA-specific antiidiotypic antibodies in the sera of patients with autoimmune diseases. 54 61
1468555 1992
6
Autoantibodies against nuclear, nucleolar, and mitochondrial antigens in systemic sclerosis (scleroderma). 54 61
2406806 1990
7
Large-Scale Characterization of Systemic Sclerosis Serum Protein Profile: Comparison to Peripheral Blood Cell Transcriptome and Correlations With Skin/Lung Fibrosis. 61
33131208 2021
8
Nailfold capillary abnormalities in childhood-onset systemic lupus erythematosus: a cross-sectional study compared with healthy controls. 61
33657918 2021
9
Performance of the New 2019 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus in Children and Young Adults. 61
32841547 2021
10
Anti-MDA5 juvenile idiopathic inflammatory myopathy with second-degree heart block but no skin or lung involvement: a case report. 61
33795018 2021
11
The spectrum of idiopathic inflammatory myopathies in South Africa. 61
32212001 2021
12
Diagnosis and management of morphoea in children: an overview. 61
33751628 2021
13
Calcinosis Cutis as the Initial Manifestation of Limited Scleroderma. 61
31985726 2021
14
Anti-PM/Scl Antibody-positive Systemic Sclerosis Complicated by Multiple Organ Involvement. 61
33132335 2021
15
Prevalence and clinical correlates of small airway obstruction in patients with systemic sclerosis. 61
32827283 2021
16
Adipose Tissue-derived Stem cells in Plastic and Reconstructive Surgery: A Bibliometric Study. 61
31980863 2021
17
How do patients define Raynaud's phenomenon? Differences between primary and secondary disease. 61
33486597 2021
18
[Atypical arthritis of the hands : Collagenosis-part 2]. 61
33792744 2021
19
Artificial stone silicosis. 61
33332924 2021
20
Reliability, Validity, and Sensitivity to Change of the Cochin Hand Functional Disability Scale and Testing the New 6-Item Cochin Hand Functional Disability Scale in Systemic Sclerosis. 61
31703022 2021
21
Severe metabolic disorders coexisting with Werner syndrome: a case report. 61
33087645 2021
22
Pharmacological activation of PPAR-γ: a potential therapy for skin fibrosis. 61
33377189 2021
23
Effect of a monocyte chemoattractant protein-1 synthesis inhibitor on fibroblasts from patients with carpal tunnel syndrome. 61
32317146 2021
24
Segmental stiff skin syndrome (SSS): Clinical case and a brief review. 61
33769553 2021
25
Cutaneous adverse events of immune checkpoint inhibitor therapy: incidence and types of reactive dermatoses. 61
33656965 2021
26
The enigmatic fascia: eosinophilic fasciitis. 61
33783170 2021
27
Pruritus as a Distinctive Feature of Type 2 Inflammation. 61
33807098 2021
28
Novel case of a scleroderma-mimicking syndrome associated with gastrointestinal stromal tumour. 61
33664035 2021
29
Extracutaneous Involvement Is Common and Associated with Prolonged Disease Activity and Greater Impact in Juvenile Localized Scleroderma. 61
33711155 2021
30
Reporting items for capillaroscopy in clinical research on musculoskeletal diseases: a systematic review and international Delphi consensus. 61
32984894 2021
31
Impact of concomitant obstructive sleep apnea on pulmonary involvement and main pulmonary artery diameter in adults with scleroderma. 61
32285251 2021
32
Case 291. 61
33617418 2021
33
Ultrasound guided aspiration of massive periarticular calcinosis in patient with scleroderma. 61
33773446 2021
34
ANCA in systemic sclerosis, when vasculitis overlaps with vasculopathy: a devastating combination of pathologies. 61
33744916 2021
35
Domains and outcome measures for the assessment of limited cutaneous systemic sclerosis: a scoping review protocol. 61
33707273 2021
36
Surgical Debulking for Symptomatic Management of Calcinosis Cutis of the Hand and Upper Extremity in Systemic Sclerosis. 61
33795151 2021
37
Joint contractures responsive to immunosuppressive therapy in a girl with childhood-onset systemic sclerosis double-seropositive for rare anti-nucleolar autoantibodies: a case report. 61
33743728 2021
38
Hospitalisations related to systemic sclerosis and the impact of interstitial lung disease. Analysis of patients hospitalised at the University of Michigan, USA. 61
33734968 2021
39
Peripheral microangiopathy in Eisenmenger syndrome: A nailfold video capillaroscopy study. 61
33741426 2021
40
Ectomycorrhizal fungal community structure in a young orchard of grafted and ungrafted hybrid chestnut saplings. 61
33502579 2021
41
Mycophenolate mofetil for methotrexate-resistant juvenile localized scleroderma. 61
32978631 2021
42
Corrigendum to 'Spanish scleroderma risk score (RESCLESCORE) to predict 15-year all-cause mortality in scleroderma patients at the time of diagnosis based on the RESCLE cohort: Derivation and internal validation' [AUTREV 19-5 (2020) 102507]. 61
33766615 2021
43
Secukinumab-induced scleroderma: a case report. 61
33068414 2021
44
[Silica-induced scleroderma in miners in former uranium ore mining (Wismut AG)]. 61
33721048 2021
45
Estimated glomerular filtration rate is a marker of mortality in the European Scleroderma Trials and Research Group (EUSTAR) database. 61
33769468 2021
46
Dissecting the Cellular Mechanism of Prostacyclin Analog Iloprost in Reversing Vascular Dysfunction in Scleroderma. 61
33001586 2021
47
Estimation of mechanical work done to open the esophagogastric junction using functional lumen imaging probe panometry. 61
33655760 2021
48
Verteporfin inhibits the persistent fibrotic phenotype of lesional scleroderma dermal fibroblasts. 61
33398723 2021
49
Prevalence of Barrett's Esophagus in Female Patients With Scleroderma. 61
33657040 2021
50
Scleroderma epidemiology update. 61
33481429 2021
Sources

Variations for Systemic Scleroderma

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ClinVar genetic disease variations for Systemic Scleroderma:

6
# 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
Sources

Expression for Systemic Scleroderma

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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.
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Pathways for Systemic Scleroderma

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

# Super pathways Score Top Affiliating Genes
1
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 12.8 TGFB1 SFTPD SELP SELE IFNG CD40LG
2
Allograft rejection 1 36
Show member pathways
 12.6 TGFB1 INS IFNG ICOSLG CD40LG
3
Cell adhesion molecules 36
11.63 SELP SELE ICOSLG CD40LG
4
Elastic fibre formation 65
Show member pathways
 11.47 TGFB1 FBN1 ELN
5
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.38 SELE IFNG CD40LG
6
Lung fibrosis 1
11.34 TGFB1 ELN CCN2
7
ATF-2 transcription factor network 1
11.24 SELE INS IFNG
8
IgA-Producing B Cells in the Intestine 64
11.08 TGFB1 ICOSLG CD40LG CCR6
9
Malaria 36
10.72 TGFB1 SELP SELE IFNG CD40LG
Sources

GO Terms for Systemic Scleroderma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 TGFB1 SFTPD MLN INS IFNG FBN1
2 external side of plasma membrane GO:0009897 9.55 SELP ICOSLG CD40LG CCR6 ACE
3 extracellular space GO:0005615 9.36 TGFB1 SFTPD SELP SELE INS IFNG

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.8 TGFB1 INS IFNG CRP CCN2
2 inflammatory response GO:0006954 9.65 TGFB1 SELP SELE CRP CD40LG
3 surfactant homeostasis GO:0043129 9.43 TGFB1 SFTPD
4 cellular response to insulin-like growth factor stimulus GO:1990314 9.37 TGFB1 FBN1
5 positive regulation of leukocyte tethering or rolling GO:1903238 9.32 SELP SELE
6 connective tissue development GO:0061448 9.16 TGFB1 CCN2
7 leukocyte cell-cell adhesion GO:0007159 9.13 SELP SELE CD40LG
8 mononuclear cell proliferation GO:0032943 8.62 TGFB1 ACE

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

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

Sources for Systemic Scleroderma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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