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PSS
MCID: SYS005
MIFTS: 69

Systemic Scleroderma (PSS)

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal 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

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MalaCards integrated aliases for Systemic Scleroderma:

Name: Systemic Scleroderma 38 12 53 25 15 73
Scleroderma 12 76 53 6 43 15 73
Systemic Sclerosis 12 53 25 15
Progressive Systemic Sclerosis 12 76 53
Scleroderma, Systemic 53 44
Scleroderma, Familial Progressive 73
Familial Progressive Scleroderma 25
Progressive Scleroderma 25
Scleroderma, Localized 44
Scleroderma Syndrome 12
Diffuse Scleroderma 73
Scleroderma Disease 55
Dermatosclerosis 12
Pss 12

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Neuronal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for Systemic Scleroderma

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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.

MalaCards based summary : Systemic Scleroderma, also known as scleroderma, is related to crest syndrome and stiff skin syndrome, 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 Dendritic Cells Developmental Lineage Pathway and Photodynamic therapy-induced NF-kB survival signaling. The drugs Bosentan and Ambrisentan have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are joint dislocation and seizures

Disease Ontology : 12 A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.

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.

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 : 76 Systemic scleroderma, also called diffuse scleroderma or systemic sclerosis, is an autoimmune disease of... more...

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Related Diseases for Systemic Scleroderma

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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 683)
# Related Disease Score Top Affiliating Genes
1 crest syndrome 33.1 CENPB TOP1
2 stiff skin syndrome 32.3 CCN2 FBN1 TGFB1
3 diffuse scleroderma 32.1 TGFB1 TOP1 TRIM21
4 limited scleroderma 32.0 CCN2 CENPB SNRNP70 TOP1
5 vasculitis 30.7 CD40LG CRP SELE
6 vascular disease 30.4 ACE CRP SELE SELP
7 antiphospholipid syndrome 30.3 CD40LG SELE SELP
8 pulmonary fibrosis, idiopathic 30.2 CCN2 IFNG SFTPD TGFB1 TLR9
9 autoimmune disease 30.2 CD40LG CENPB IFNG TLR9
10 idiopathic interstitial pneumonia 30.0 CCN2 IFNG SFTPD TGFB1 TLR9
11 pulmonary sarcoidosis 30.0 ACE IFNG SFTPD
12 rheumatoid arthritis 29.9 CD40LG CRP IFNG SELE TGFB1
13 respiratory failure 29.9 ACE CRP SFTPD
14 end stage renal failure 29.9 ACE CRP TGFB1
15 silicosis 29.9 ACE SFTPD TGFB1
16 central nervous system vasculitis 29.9 CRP IFNG TLR9
17 connective tissue disease 29.8 ACE CCN2 CD40LG CENPB FBL FBN1
18 pneumonia 29.7 CD40LG CRP SFTPD TLR9
19 interstitial lung disease 29.7 IFNG SFTPD TGFB1
20 peripheral artery disease 29.7 ACE CRP SELP
21 arteries, anomalies of 29.7 ACE CRP SELE SELP TLR9
22 peripheral vascular disease 29.6 ACE CRP SELE SELP
23 coronary artery anomaly 29.6 ACE CRP SELP
24 aspergillosis 29.6 IFNG SFTPD TLR9
25 facial hemiatrophy 29.6 EXOSC10 SNRNP70 TRIM21
26 bacterial infectious disease 29.6 CRP IFNG TLR9
27 bronchiolitis 29.6 CRP IFNG TLR9
28 nervous system disease 29.6 ACE CRP IFNG TLR9
29 periodontitis 29.5 CRP IFNG TLR9
30 rheumatic disease 29.5 CD40LG CENPB CRP IFNG TLR9 TOP1
31 systemic lupus erythematosus 29.5 ACE CD40LG CENPB CRP IFNG SELE
32 asthma 29.3 CD40LG IFNG SELE SELP TGFB1 TLR9
33 collagen disease 28.7 CCN2 CENPB CRP EXOSC10 FBN1 SCHIP1
34 pulmonary systemic sclerosis 12.3
35 diffuse cutaneous systemic sclerosis 12.1
36 scleroderma, familial progressive 12.0
37 generalized peeling skin syndrome 11.9
38 peeling skin syndrome 1 11.9
39 potocki-shaffer syndrome 11.8
40 peeling skin syndrome 2 11.8
41 peeling skin syndrome 3 11.8
42 hemifacial atrophy, progressive 11.6
43 melorheostosis 11.3
44 peeling skin syndrome 5 11.3
45 werner syndrome 11.3
46 hutchinson-gilford progeria syndrome 11.3
47 gastric antral vascular ectasia 11.3
48 atrophoderma of pierini and pasini 11.2
49 adrenoleukodystrophy 11.2
50 reynolds syndrome 11.2

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

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Human phenotypes related to Systemic Scleroderma:

32 (show top 50) (show all 67)
# Description HPO Frequency HPO Source Accession
1 joint dislocation 32 occasional (7.5%) HP:0001373
2 seizures 32 occasional (7.5%) HP:0001250
3 muscle weakness 32 hallmark (90%) HP:0001324
4 nausea and vomiting 32 hallmark (90%) HP:0002017
5 bowel incontinence 32 frequent (33%) HP:0002607
6 behavioral abnormality 32 occasional (7.5%) HP:0000708
7 arthritis 32 hallmark (90%) HP:0001369
8 malabsorption 32 frequent (33%) HP:0002024
9 gastroesophageal reflux 32 hallmark (90%) HP:0002020
10 feeding difficulties in infancy 32 frequent (33%) HP:0008872
11 renal insufficiency 32 occasional (7.5%) HP:0000083
12 nephropathy 32 frequent (33%) HP:0000112
13 cranial nerve paralysis 32 frequent (33%) HP:0006824
14 fatigue 32 hallmark (90%) HP:0012378
15 subcutaneous nodule 32 hallmark (90%) HP:0001482
16 pulmonary fibrosis 32 frequent (33%) HP:0002206
17 arthralgia 32 hallmark (90%) HP:0002829
18 acrocyanosis 32 hallmark (90%) HP:0001063
19 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
20 arrhythmia 32 frequent (33%) HP:0011675
21 skeletal muscle atrophy 32 occasional (7.5%) HP:0003202
22 myocardial infarction 32 frequent (33%) HP:0001658
23 abdominal pain 32 frequent (33%) HP:0002027
24 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
25 hyperkeratosis 32 frequent (33%) HP:0000962
26 peripheral neuropathy 32 occasional (7.5%) HP:0009830
27 congestive heart failure 32 occasional (7.5%) HP:0001635
28 lack of skin elasticity 32 hallmark (90%) HP:0100679
29 decreased nerve conduction velocity 32 frequent (33%) HP:0000762
30 dry skin 32 hallmark (90%) HP:0000958
31 autoimmunity 32 hallmark (90%) HP:0002960
32 cirrhosis 32 occasional (7.5%) HP:0001394
33 skin ulcer 32 hallmark (90%) HP:0200042
34 hypopigmented skin patches 32 frequent (33%) HP:0001053
35 memory impairment 32 occasional (7.5%) HP:0002354
36 myalgia 32 hallmark (90%) HP:0003326
37 cachexia 32 occasional (7.5%) HP:0004326
38 heart block 32 occasional (7.5%) HP:0012722
39 hematuria 32 occasional (7.5%) HP:0000790
40 mucosal telangiectasiae 32 frequent (33%) HP:0100579
41 telangiectasia of the skin 32 frequent (33%) HP:0100585
42 xerostomia 32 hallmark (90%) HP:0000217
43 narrow mouth 32 occasional (7.5%) HP:0000160
44 gastrointestinal hemorrhage 32 occasional (7.5%) HP:0002239
45 osteomyelitis 32 occasional (7.5%) HP:0002754
46 chest pain 32 hallmark (90%) HP:0100749
47 gingivitis 32 hallmark (90%) HP:0000230
48 cheilitis 32 hallmark (90%) HP:0100825
49 pericarditis 32 frequent (33%) HP:0001701
50 cough 32 hallmark (90%) HP:0012735

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 homeostasis/metabolism MP:0005376 10.18 ACE CCN2 CD40LG CRP FBN1 IFNG
2 cardiovascular system MP:0005385 10.13 ACE CCN2 CD40LG CRP FBN1 IFNG
3 hematopoietic system MP:0005397 10.1 ACE CD40LG FBN1 IFNG SELE SELP
4 immune system MP:0005387 10.06 ACE CD40LG CRP FBN1 IFNG SELE
5 mortality/aging MP:0010768 10.03 ACE CCN2 CD40LG CENPB FBL FBN1
6 integument MP:0010771 9.86 CCN2 CD40LG FBN1 IFNG SELE SELP
7 renal/urinary system MP:0005367 9.61 ACE CD40LG FBN1 IFNG SCHIP1 SELP
8 respiratory system MP:0005388 9.17 CCN2 FBN1 IFNG SELE SELP SFTPD
Sources

Drugs & Therapeutics for Systemic Scleroderma

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

(show top 50) (show all 323)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 147536-97-8 104865
2
Ambrisentan Approved, Investigational Phase 4,Phase 2,Not Applicable 177036-94-1 6918493
3
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 2 171596-29-5 110635
4
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
5
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
6
Metronidazole Approved Phase 4,Not Applicable 443-48-1 4173
7
Aspirin Approved, Vet_approved Phase 4,Not Applicable 50-78-2 2244
8
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 77-92-9 311
9 Vaccines Phase 4,Not Applicable
10 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Early Phase 1
14 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Early Phase 1
15 Vasodilator Agents Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable
16 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Early Phase 1
17 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 3,Not Applicable
18 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
19 Respiratory System Agents Phase 4,Phase 2,Phase 3
20 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
21 Autonomic Agents Phase 4,Phase 2,Phase 3,Early Phase 1
22 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 171599-83-0
23 Citrate Phase 4,Phase 3,Phase 2,Early Phase 1
24 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
26 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Acidophilus Phase 4,Phase 3
28 Phosphodiesterase 3 Inhibitors Phase 4
29 Bronchodilator Agents Phase 4
30 Fibrinolytic Agents Phase 4,Phase 2,Phase 3,Not Applicable
31 Anti-Asthmatic Agents Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Antiprotozoal Agents Phase 4,Not Applicable
36 Antiparasitic Agents Phase 4,Not Applicable
37 Cyclooxygenase Inhibitors Phase 4,Not Applicable
38 Antipyretics Phase 4,Not Applicable
39 Omega 3 Fatty Acid Phase 4
40
Iloprost Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 78919-13-8 6443959
41
Acetylcysteine Approved, Investigational Phase 2, Phase 3,Phase 3 616-91-1 12035
42
Nitroglycerin Approved, Investigational Phase 3,Phase 2 55-63-0 4510
43
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
44
rituximab Approved Phase 2, Phase 3,Phase 3,Not Applicable 174722-31-7 10201696
45
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Early Phase 1 83-43-2 6741
46
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3,Phase 3,Early Phase 1 2921-57-5
47
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Early Phase 1 50-24-8 5755
48
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3,Phase 3,Early Phase 1 302-25-0
49
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
50
Macitentan Approved Phase 3,Phase 2 441798-33-0

Interventional clinical trials:

(show top 50) (show all 404)
# Name Status NCT ID Phase Drugs
1 Influenza Vaccination 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 The Clinical And Subclinical Effects on Arterial Stiffness of Bosentan in Patients With Systemic Sclerosis Completed NCT02480335 Phase 4 bosentan
4 Bosentan in Systemic Sclerosis Completed NCT01395732 Phase 4 Bosentan
5 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Completed NCT01051960 Phase 4 Ambrisentan
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 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4 bosentan
8 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
9 Efficacy and Safety of PLACENTEX ® i.m. in Patients With Scleroderma Diseases Recruiting NCT03388255 Phase 4 Polydeoxyribonucleotides
10 To Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Recruiting NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
11 Effectiveness of Saccharomyces Boulardii for Gastrointestinal Bacterial-overgrowth in Systemic Sclerosis Recruiting NCT03692299 Phase 4 Saccharomyces Boulardii Oral Tablet;Metronidazole
12 Evaluation of Effectiveness of Acetylsalicylic Acid on Markers of Vascular Dysfunction in Scleroderma Patients Enrolling by invitation NCT03558854 Phase 4 Acetylsalicylic acid;Placebo oral capsule
13 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
14 Comparison of Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
15 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
16 Intraoperative ICG for Systemic Sclerosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
17 Effects of Probiotics on Gastrointestinal Symptoms and on the Immune System in Patients With Systemic Sclerosis Unknown status NCT02302352 Phase 3
18 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 Serial Night Time Position Splint on Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
20 Platelet Gel in Systemic Sclerosis Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
21 A Study of a Topical Form of Nitroglycerin and Placebo in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
22 Study of a Topical Formulation for the Treatment and Prevention of Raynaud's Phenomenon Symptoms Unknown status NCT00934427 Phase 3 0.9% nitroglycerin in TAM cream;vehicle cream
23 Sildenafil Effect on Digital Ulcer Healing in sClerodErma SEDUCE STUDY Completed NCT01295736 Phase 3 Sildenafil;placebo
24 Macitentan for the Treatment of Digital Ulcers in Systemic Sclerosis Patients Completed NCT01474109 Phase 3 macitentan 3mg;macitentan 10mg;placebo
25 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3 IV Cyclophosphamide
26 Rituximab in Systemic Sclerosis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
27 Efficacy and Safety Study of GB-0998 for Treatment of Systemic Sclerosis Completed NCT00348296 Phase 3 High-dose intravenous immunoglobulin (Venoglobulin-IH)
28 Effectiveness and Safety of Lidocaine for Scleroderma Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
29 Gastroesophageal Reflux Treatment in Scleroderma Completed NCT01878526 Phase 3 Alginic acid;placebo (for domperidone);Domperidone;placebo (of alginic acid)
30 Efficacy of Botulinum Toxin In Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
31 Scleroderma: Cyclophosphamide or Transplantation (SCOT) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
32 A Trial to Compare Nintedanib With Placebo for Patients With Scleroderma Related Lung Fibrosis Completed NCT02597933 Phase 3 Nintedanib;Placebo
33 Recombinant Human Relaxin in the Treatment of Diffuse Scleroderma Completed NCT00704665 Phase 3 Relaxin;Relaxin
34 Scleroderma Lung Disease Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
35 Effect of Sildenafil on the Microcirculatory Blood Flow and Endothelial Progenitor Cells in Systemic Sclerosis Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
36 Efficacy and Safety of Oral Bosentan on Healing/Prevention of Digital (Finger) Ulcers in Patients With Scleroderma Completed NCT00077584 Phase 3 Bosentan 62.5 mg;Bosentan 125 mg;Placebo
37 Effect of Rosuvastatin on Systemic Sclerosis-related Pulmonary Hypertension Completed NCT00984932 Phase 3 Rosuvastatin
38 Efficacy and Safety of Oral Bosentan in Pulmonary Fibrosis Associated With Scleroderma Completed NCT00070590 Phase 2, Phase 3 Bosentan
39 Study to Compare the Efficacy of Mycophenolate Mofetil in Systemic Sclerosis Related Early Interstitial Lung Disease Completed NCT02896205 Phase 3 Mycophenolate mofetil;Placebo
40 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT01117298 Phase 3 Tadalafil;Placebo
41 A Trial of Tadalafil in Interstitial Lung Disease of Scleroderma Completed NCT01553981 Phase 3 Tadalafil;Placebo
42 A Study of RoActemra/Actemra (Tocilizumab) Versus Placebo in Patients With Systemic Sclerosis Completed NCT01532869 Phase 3 Placebo;tocilizumab [RoActemra/Actemra];tocilizumab [RoActemra/Actemra]
43 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
44 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
45 Open-label Study With Bosentan in Interstitial Lung Disease Completed NCT00319033 Phase 2, Phase 3 bosentan
46 Bosentan in Digital Ulcers Completed NCT00319696 Phase 3 Bosentan 62.5 mg;Bosentan 125 mg
47 Imiquimod in Children With Plaque Morphea Completed NCT00147771 Phase 3 Imiquimod 5% cream
48 A Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
49 Phase III Study of Topical Gel for Treatment and Prevention of Raynaud's Phenomenon Completed NCT00266669 Phase 3 Topical organogel with nitroglycerin
50 Lab Study of MQX-503 in Treatment of Raynaud's Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin

Search NIH Clinical Center for Systemic Scleroderma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Skin, Lung, Heart, Testes, Endothelial, Kidney, Bone
Sources

Publications for Systemic Scleroderma

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Articles related to Systemic Scleroderma:

(show top 50) (show all 815)
# Title Authors Year
1
Oxidative stress in the pathogenesis of systemic scleroderma: An overview. ( 29664231 )
2018
2
Systemic scleroderma-related interstitial pneumonia associated with borderline pulmonary arterial hypertension. ( 29804068 )
2018
3
Autoantibodies in Serum of Systemic Scleroderma Patients: Peptide-Based Epitope Mapping Indicates Increased Binding to Cytoplasmic Domains of CXCR3. ( 29623076 )
2018
4
Articular Surgery of the Ischemic Hand in Systemic Scleroderma: A Vascular Basis for Arthrodesis and Arthroplasty. ( 29650377 )
2018
5
ANCA-associated vasculitis in scleroderma: A renal perspective
. ( 30106367 )
2018
6
Dystrophic calcinosis in a patient with overlap syndrome (scleroderma and rheumatoid arthritis) treated by leflunomide: A case report. ( 30461645 )
2018
7
DRESS/DIHS caused by levofloxacin in a patient with systemic scleroderma, rheumatoid arthritis, and Sjogren syndrome. ( 30484869 )
2018
8
Aspergillosis, nocardiosis and scleroderma, a fatal and infrequent association. ( 29983162 )
2018
9
Febrile Calcinosis in Scleroderma. ( 30076824 )
2018
10
Calcinosis in scleroderma. ( 30124603 )
2018
11
Chilaiditi Syndrome Complicated by Cecal Perforation in the Setting of Scleroderma. ( 30283808 )
2018
12
Comorbidity of localized scleroderma and primary biliary cholangitis. ( 30395408 )
2018
13
Radiological images of interstitial pneumonia in mixed connective tissue disease compared with scleroderma and polymyositis/dermatomyositis. ( 30292269 )
2018
14
Awareness of Scleroderma Peripheral Artery Disease Presenting With Critical Limb Ischemia in Elderly Patients. ( 30270312 )
2018
15
Collagen Vascular Diseases: SLE, Dermatomyositis, Scleroderma, and MCTD. ( 30275033 )
2018
16
Atypical rapid onset Scleroderma Renal Crisis (SRC) complicated with diffuse alveolar hemorrhage and pleuro-pericardial effusions in a patient with recently diagnosed breast cancer and a positive anti-RNA polymerase III Ab.: A case report. ( 30140606 )
2018
17
Intravenous cyclophosphamide vs rituximab for the treatment of early diffuse scleroderma lung disease: open label, randomized, controlled trial. ( 30053212 )
2018
18
Localized scleroderma causing enophthalmos: A rare entity. ( 30355873 )
2018
19
Linear Circumscribed Scleroderma-Like Folliculitis Decalvans: Yet Another Face of a Protean Condition. ( 30386078 )
2018
20
Longitudinal Assessment of Patient-reported Outcome Measures in Systemic Sclerosis Patients with Gastroesophageal Reflux Disease - Scleroderma Clinical Trials Consortium. ( 30442827 )
2018
21
2-Methoxyestradiol inhibits hypoxia-induced scleroderma fibroblast collagen synthesis by phosphatidylinositol 3-kinase/Akt/mTOR signalling. ( 29905853 )
2018
22
Scleroderma Renal Crisis Complicated with Thrombotic Microangiopathy Triggered by Influenza B Virus Infection. ( 30146597 )
2018
23
Longitudinal Changes in Quantitative Interstitial Lung Disease on Computed Tomography after Immunosuppression in the Scleroderma Lung Study II. ( 30265153 )
2018
24
Scleroderma with Fibrosing Interstitial Lung Disease: Where Do We Stand? ( 30382781 )
2018
25
Interstitial lung disease in systemic sclerosis: data from the spanish scleroderma study group. ( 29322341 )
2018
26
Asiatic acid prevents the development of interstitial lung disease in a hypochlorous acid-induced mouse model of scleroderma. ( 29805609 )
2018
27
Assessing the response of morphea and limited scleroderma to tranilast: a small prospective study comparing topical corticosteroids to a combination of topical corticosteroids and tranilast. ( 30013378 )
2018
28
Remission of seizures with immunosuppressive therapy in Parry-Romberg syndrome and en coup de sabre linear scleroderma: Case report and brief review of the literature. ( 30168188 )
2018
29
A surgical approach to linear scleroderma using Medpor and dermal fat graft. ( 30332890 )
2018
30
Treatments and outcomes in juvenile linear scleroderma: a narrative systematic review. ( 30442631 )
2018
31
Linear lipoatrophy following intra-articular triamcinolone acetonide injection mimicking linear scleroderma. ( 30484902 )
2018
32
A 26-Year Experience with Microsurgical Reconstruction of Hemifacial Atrophy and Linear Scleroderma. ( 30511981 )
2018
33
Localized Scleroderma of the Head and Face Area: A Retrospective Cross-sectional Study of 96 Patients from 5 German Tertiary Referral Centres. ( 29507998 )
2018
34
Juvenile Localized Scleroderma with Hyaline Deposits in the Renal Arteriole. ( 29805370 )
2018
35
Erratum to "From Localized Scleroderma to Systemic Sclerosis: Coexistence or Possible Evolution". ( 29973952 )
2018
36
Detecting and quantifying activity/inflammation in localized scleroderma with thermal imaging. ( 30030915 )
2018
37
Scleroderma in Children and Adolescents: Localized Scleroderma and Systemic Sclerosis. ( 30031497 )
2018
38
Localized Scleroderma Cutaneous Assessment Tool (LoSCAT) adapted for use in adult patients: report from an initial validation study. ( 30217204 )
2018
39
New Features for Measuring Disease Activity in Pediatric Localized Scleroderma. ( 30219769 )
2018
40
Progranulin overproduction due to constitutively activated c-Abl/PKC-δ/Fli1 pathway contributes to the resistance of dermal fibroblasts to the anti-fibrotic effect of tumor necrosis factor-α in localized scleroderma. ( 30268392 )
2018
41
Prediction of disease relapse in a cohort of paediatric patients with localized scleroderma. ( 30315656 )
2018
42
A case of juvenile localized scleroderma with anti-topoisomerase I antibody. ( 30442630 )
2018
43
Comparison of 2-D shear wave elastography with clinical score in localized scleroderma: A new method to increase the diagnostic accuracy. ( 30506714 )
2018
44
Long-Term Survival in Bilateral Lung Transplantation for Scleroderma-Related Lung Disease. ( 29394994 )
2018
45
Lung transplantation for scleroderma lung disease: An international, multicenter, observational cohort study. ( 29628135 )
2018
46
Brachio-cervical inflammatory myopathy with associated scleroderma phenotype and lupus serology. ( 29114565 )
2018
47
Investigation of myositis and scleroderma specific autoantibodies in patients with lung cancer. ( 30092841 )
2018
48
Systemic scleroderma and lupus panniculitis with atypical clinical features: A case report and comprehensive review. ( 30246128 )
2018
49
50 Years Ago in The Journal of Pediatrics: Phenylketonuria and Scleroderma. ( 30244729 )
2018
50
Emphysema formation in a never-smoker with scleroderma-related interstitial pneumonia. ( 30237971 )
2018
Sources

Variations for Systemic Scleroderma

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ClinVar genetic disease variations for Systemic Scleroderma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh37 Chromosome 11, 47433573: 47433573
2 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh38 Chromosome 11, 47412022: 47412022
Sources

Expression for Systemic Scleroderma

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

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
Dendritic Cells Developmental Lineage Pathway 65
11.3 IFNG TGFB1 TLR9
2
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.13 CD40LG IFNG SELE
3
Malaria 37
10.79 CD40LG IFNG SELE SELP TGFB1 TLR9
4
African trypanosomiasis 37
10.68 IFNG SELE TLR9
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 9.65 ACE CCN2 CD40LG CRP FBN1 IFNG
2 extracellular space GO:0005615 9.32 ACE CCN2 CD40LG CRP FBN1 IFNG

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.77 CCN2 CRP IFNG TGFB1 TLR9
2 negative regulation of gene expression GO:0010629 9.76 ACE CCN2 IFNG TGFB1
3 leukocyte tethering or rolling GO:0050901 9.51 SELE SELP
4 leukocyte cell-cell adhesion GO:0007159 9.5 CD40LG SELE SELP
5 positive regulation of superoxide anion generation GO:0032930 9.49 CRP TGFB1
6 regulation of regulatory T cell differentiation GO:0045589 9.48 IFNG TGFB1
7 negative regulation of interleukin-17 production GO:0032700 9.43 IFNG TGFB1
8 regulation of signaling receptor activity GO:0010469 9.43 CCN2 CD40LG FBN1 IFNG MLN TGFB1
9 cellular response to insulin-like growth factor stimulus GO:1990314 9.4 FBN1 TGFB1
10 positive regulation of interleukin-12 production GO:0032735 9.33 CD40LG IFNG TLR9
11 mononuclear cell proliferation GO:0032943 9.26 ACE TGFB1
12 inflammatory response GO:0006954 9.1 CD40LG CRP SELE SELP TGFB1 TLR9

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 SELE SELP
2 sialic acid binding GO:0033691 8.62 SELE SELP
Sources

Sources for Systemic Scleroderma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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