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MCID: SYS005
MIFTS: 67

Systemic Scleroderma

Categories: Rare diseases, Immune diseases, Skin diseases, Genetic diseases, Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone 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
Progressive Systemic Sclerosis 12 76 53
Systemic Sclerosis 12 53 25
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 Skin diseases Neuronal diseases Nephrological diseases Respiratory diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


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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 localized scleroderma and scleroderma, familial progressive, and has symptoms including exanthema, pruritus and hidebound skin. An important gene associated with Systemic Scleroderma is TSIX (TSIX Transcript, XIST Antisense RNA
Long non-coding RNA TSIX is upregulated in scleroderma dermal fibroblasts and controls collagen mRNA stabilization.
Dysfunction Pattern: Regulation), and among its related pathways/superpathways are AGE-RAGE signaling pathway in diabetic complications and Dendritic Cells Developmental Lineage Pathway. The drugs Bosentan and Silver sulfadiazine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are recurrent urinary tract infections and renal insufficiency

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.

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 179)
# Related Disease Score Top Affiliating Genes
1 localized scleroderma 35.2 CTGF SELE TGFB1
2 scleroderma, familial progressive 33.4 CTGF EDN1 FBN1 TOP1
3 stiff skin syndrome 32.8 CTGF FBN1 TGFB1
4 diffuse scleroderma 32.4 EDN1 TGFB1 TOP1
5 limited scleroderma 31.6 CENPB CTGF SNRNP70 TOP1
6 crest syndrome 31.3 CENPB TOP1
7 silicosis 30.5 ACE SFTPD TGFB1
8 pneumonia 30.0 CD40LG CRP SFTPD TLR9
9 pulmonary fibrosis 30.0 CTGF EDN1 SFTPD TGFB1
10 interstitial lung disease 29.9 EDN1 IFNG SFTPD TGFB1
11 rheumatoid arthritis 29.7 CD40LG CRP IFNG SELE TGFB1
12 facial hemiatrophy 29.7 CD40LG EXOSC10 SNRNP70
13 lung disease 29.6 EDN1 SFTPD TGFB1 TLR9
14 coronary artery anomaly 29.6 ACE CRP EDN1 SELE SELP
15 systemic lupus erythematosus 29.3 CD40LG CRP IFNG SELE SNRNP70 TLR9
16 arteries, anomalies of 29.1 ACE CRP EDN1 SELE SELP TLR9
17 linear scleroderma 12.5
18 potocki-shaffer syndrome 12.0
19 diffuse cutaneous systemic sclerosis 11.9
20 generalized peeling skin syndrome 11.8
21 peeling skin syndrome 1 11.7
22 peeling skin syndrome 2 11.6
23 peeling skin syndrome 3 11.6
24 peeling skin syndrome 5 11.1
25 loeffler syndrome 11.1 ACE CD40LG
26 adrenoleukodystrophy 11.0
27 reynolds syndrome 11.0
28 heterophyiasis 10.9 CD40LG SELE
29 familial vesicoureteral reflux 10.9 ACE TGFB1
30 hypersensitivity reaction type iii disease 10.9 CD40LG CRP SELE
31 ureteral disease 10.9 ACE CTGF TGFB1
32 peeling skin syndrome 10.9
33 psychosocial short stature 10.9
34 pustulosis palmaris et plantaris 10.9 CD40LG SELE TGFB1
35 nephrosclerosis 10.9 ACE CTGF TGFB1
36 african tick-bite fever 10.9 CD40LG IFNG SELE
37 granulomatous hepatitis 10.9 ACE CD40LG CRP
38 multiple cranial nerve palsy 10.9 ACE CD40LG CRP
39 microvascular complications of diabetes 3 10.8 ACE CTGF TGFB1
40 generalized atherosclerosis 10.8 ACE CRP SELP
41 heparin-induced thrombocytopenia 10.8 CD40LG SELP
42 legg-calve-perthes disease 10.8 CD40LG SELE SELP
43 chronic active epstein-barr virus infection 10.8 IFNG SELE TGFB1
44 acalculous cholecystitis 10.8 CD40LG CRP
45 plasmodium vivax malaria 10.8 CD40LG IFNG SELE
46 intermediate coronary syndrome 10.8 ACE CRP SELP
47 neuroretinitis 10.8 ACE CD40LG MLN
48 mononeuritis multiplex 10.8 CD40LG CRP
49 carotid artery disease 10.8 ACE CRP SELE
50 brucellosis 10.8 CD40LG CRP IFNG

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
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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 recurrent urinary tract infections 32 frequent (33%) HP:0000010
2 renal insufficiency 32 occasional (7.5%) HP:0000083
3 nephropathy 32 frequent (33%) HP:0000112
4 narrow mouth 32 occasional (7.5%) HP:0000160
5 xerostomia 32 hallmark (90%) HP:0000217
6 gingival bleeding 32 occasional (7.5%) HP:0000225
7 gingivitis 32 hallmark (90%) HP:0000230
8 behavioral abnormality 32 occasional (7.5%) HP:0000708
9 decreased nerve conduction velocity 32 frequent (33%) HP:0000762
10 hematuria 32 occasional (7.5%) HP:0000790
11 chondrocalcinosis 32 frequent (33%) HP:0000934
12 dry skin 32 hallmark (90%) HP:0000958
13 hyperkeratosis 32 frequent (33%) HP:0000962
14 urticaria 32 frequent (33%) HP:0001025
15 hypopigmented skin patches 32 frequent (33%) HP:0001053
16 acrocyanosis 32 hallmark (90%) HP:0001063
17 seizures 32 occasional (7.5%) HP:0001250
18 muscle weakness 32 hallmark (90%) HP:0001324
19 arthritis 32 hallmark (90%) HP:0001369
20 joint dislocation 32 occasional (7.5%) HP:0001373
21 cirrhosis 32 occasional (7.5%) HP:0001394
22 subcutaneous nodule 32 hallmark (90%) HP:0001482
23 congestive heart failure 32 occasional (7.5%) HP:0001635
24 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
25 myocardial infarction 32 frequent (33%) HP:0001658
26 pericarditis 32 frequent (33%) HP:0001701
27 nausea and vomiting 32 hallmark (90%) HP:0002017
28 gastroesophageal reflux 32 hallmark (90%) HP:0002020
29 malabsorption 32 frequent (33%) HP:0002024
30 abdominal pain 32 frequent (33%) HP:0002027
31 abnormality of the rectum 32 occasional (7.5%) HP:0002034
32 restrictive ventilatory defect 32 hallmark (90%) HP:0002091
33 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
34 pulmonary infiltrates 32 occasional (7.5%) HP:0002113
35 pulmonary fibrosis 32 frequent (33%) HP:0002206
36 gastrointestinal hemorrhage 32 occasional (7.5%) HP:0002239
37 memory impairment 32 occasional (7.5%) HP:0002354
38 tracheoesophageal fistula 32 occasional (7.5%) HP:0002575
39 bowel incontinence 32 frequent (33%) HP:0002607
40 osteomyelitis 32 occasional (7.5%) HP:0002754
41 abnormal pattern of respiration 32 frequent (33%) HP:0002793
42 osteolysis 32 occasional (7.5%) HP:0002797
43 arthralgia 32 hallmark (90%) HP:0002829
44 autoimmunity 32 hallmark (90%) HP:0002960
45 skeletal muscle atrophy 32 occasional (7.5%) HP:0003202
46 myalgia 32 hallmark (90%) HP:0003326
47 cachexia 32 occasional (7.5%) HP:0004326
48 abnormality of the anus 32 occasional (7.5%) HP:0004378
49 cranial nerve paralysis 32 frequent (33%) HP:0006824
50 feeding difficulties in infancy 32 frequent (33%) HP:0008872

UMLS symptoms related to Systemic Scleroderma:


exanthema, pruritus, hidebound skin

MGI Mouse Phenotypes related to Systemic Scleroderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 FBN1 ACE IFNG CD40LG SCHIP1 CRP
2 homeostasis/metabolism MP:0005376 10.07 FBN1 ACE IFNG CD40LG SCHIP1 CRP
3 mortality/aging MP:0010768 10.03 ACE IFNG CD40LG SCHIP1 CENPB SELE
4 endocrine/exocrine gland MP:0005379 9.97 FBN1 ACE IFNG CD40LG CENPB SCHIP1
5 renal/urinary system MP:0005367 9.61 ACE IFNG CD40LG SCHIP1 SELP EDN1
6 respiratory system MP:0005388 9.17 FBN1 IFNG SELE CTGF 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 257)
# 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
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
3
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 2 171596-29-5 110635
4
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 77-92-9 311
6 Vaccines Phase 4,Not Applicable
7 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Early Phase 1
10 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Early Phase 1
11 Vasodilator Agents Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable
12 Autonomic Agents Phase 4,Phase 2,Phase 3,Early Phase 1
13 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Early Phase 1
14 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
15 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 3,Not Applicable
16 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
17 Respiratory System Agents Phase 4,Phase 2,Phase 3
18 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Early Phase 1 171599-83-0
19 Anti-Asthmatic Agents Phase 4
20 Bronchodilator Agents Phase 4
21 Fibrinolytic Agents Phase 4,Phase 2,Phase 3
22 Phosphodiesterase 3 Inhibitors Phase 4
23 Citrate Nutraceutical Phase 4,Phase 3,Phase 2,Early Phase 1
24 Acidophilus Nutraceutical Phase 4,Phase 3
25 Omega 3 Fatty Acid Nutraceutical Phase 4
26
Acetylcysteine Approved, Investigational Phase 2, Phase 3,Phase 3 616-91-1 12035
27
Iloprost Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 78919-13-8 6443959
28
Nitroglycerin Approved, Investigational Phase 3,Phase 2 55-63-0 4510
29
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
30
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Early Phase 1 83-43-2 6741
31
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Early Phase 1 50-24-8 5755
32
rituximab Approved Phase 2, Phase 3,Phase 3 174722-31-7 10201696
33
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
34
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
35
Macitentan Approved Phase 3 441798-33-0
36
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1 135968-09-1
37
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
38
Alginic acid Approved, Investigational Phase 3 9005-32-7
39
Domperidone Approved, Investigational, Vet_approved Phase 3 57808-66-9 3151
40
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
41
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
42
Acetylcholine Approved Phase 3,Phase 2,Not Applicable 51-84-3 187
43
Mesna Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 3375-50-6 598
44
Methocarbamol Approved, Vet_approved Phase 3,Phase 2 532-03-6 4107
45
Lactulose Approved Phase 3 4618-18-2 11333
46
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
47
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
48
Udenafil Approved, Investigational Phase 2, Phase 3 268203-93-6 6918523
49
Fludarabine Approved Phase 3,Phase 1,Phase 2 21679-14-1, 75607-67-9 30751
50
Vidarabine Approved, Investigational Phase 3,Phase 1,Phase 2 24356-66-9 32326 21704

Interventional clinical trials:

(show top 50) (show all 370)
# Name Status NCT ID Phase Drugs
1 Influenza Vaccination in Patients With Scleroderma Unknown status NCT01002508 Phase 4
2 The Clinical And Subclinical Effects on Arterial Stiffness of Bosentan in Patients With Systemic Sclerosis Unknown status NCT02480335 Phase 4 bosentan
3 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
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 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
12 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
13 Comparison of Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
14 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
15 Intraoperative ICG for Systemic Sclerosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
16 Effects of Probiotics on Gastrointestinal Symptoms and on the Immune System in Patients With Systemic Sclerosis Unknown status NCT02302352 Phase 3
17 High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis Unknown status NCT00428883 Phase 2, Phase 3 N-acetylcysteine (NAC)
18 Serial Night Time Position Splint on Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
19 Platelet Gel in Systemic Sclerosis Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
20 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
21 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
22 Sildenafil Effect on Digital Ulcer Healing in sClerodErma SEDUCE STUDY Completed NCT01295736 Phase 3 Sildenafil;placebo
23 Macitentan for the Treatment of Digital Ulcers in Systemic Sclerosis Patients Completed NCT01474109 Phase 3 macitentan 3mg;macitentan 10mg;placebo
24 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3 IV Cyclophosphamide
25 Rituximab in Systemic Sclerosis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
26 Efficacy and Safety Study of GB-0998 for Treatment of Systemic Sclerosis Completed NCT00348296 Phase 3 High-dose intravenous immunoglobulin (Venoglobulin-IH)
27 Effectiveness and Safety of Lidocaine for Scleroderma Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
28 Gastroesophageal Reflux Treatment in Scleroderma Completed NCT01878526 Phase 3 Alginic acid;placebo (for domperidone);Domperidone;placebo (of alginic acid)
29 Efficacy of Botulinum Toxin In Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
30 Scleroderma: Cyclophosphamide or Transplantation (SCOT) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
31 Recombinant Human Relaxin in the Treatment of Diffuse Scleroderma Completed NCT00704665 Phase 3 Relaxin;Relaxin
32 Scleroderma Lung Disease Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
33 Effect of Sildenafil on the Microcirculatory Blood Flow and Endothelial Progenitor Cells in Systemic Sclerosis Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
34 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
35 Effect of Rosuvastatin on Systemic Sclerosis-related Pulmonary Hypertension Completed NCT00984932 Phase 3 Rosuvastatin
36 Efficacy and Safety of Oral Bosentan in Pulmonary Fibrosis Associated With Scleroderma Completed NCT00070590 Phase 2, Phase 3 Bosentan
37 Study to Compare the Efficacy of Mycophenolate Mofetil in Systemic Sclerosis Related Early Interstitial Lung Disease Completed NCT02896205 Phase 3 Mycophenolate mofetil;Placebo
38 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT01117298 Phase 3 Tadalafil;Placebo
39 A Trial of Tadalafil in Interstitial Lung Disease of Scleroderma Completed NCT01553981 Phase 3 Tadalafil;Placebo
40 A Study of RoActemra/Actemra (Tocilizumab) Versus Placebo in Patients With Systemic Sclerosis Completed NCT01532869 Phase 3 Placebo;tocilizumab [RoActemra/Actemra];tocilizumab [RoActemra/Actemra]
41 Bosentan in Digital Ulcers Completed NCT00319696 Phase 3 bosentan
42 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
43 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
44 Open-label Study With Bosentan in Interstitial Lung Disease Completed NCT00319033 Phase 2, Phase 3 bosentan
45 Imiquimod in Children With Plaque Morphea Completed NCT00147771 Phase 3 Imiquimod 5% cream
46 A Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
47 Phase III Study of Topical Gel for Treatment and Prevention of Raynaud's Phenomenon Completed NCT00266669 Phase 3 Topical organogel with nitroglycerin
48 Lab Study of MQX-503 in Treatment of Raynaud's Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin
49 Phase III Study of a Topical Gel Formulation for Treatment and Prevention of Raynaud's Phenomenon Completed NCT00419419 Phase 3 Topical AmphiMatrix with nitroglycerin (MQX-503)
50 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion

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, Eye
Sources

Publications for Systemic Scleroderma

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Articles related to Systemic Scleroderma:

(show top 50) (show all 234)
# 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
The Antiretroviral nelfinavir mesylate, a potential therapy for systemic scleroderma. ( 28940894 )
2017
6
Platelet-rich gel for the adjuvant treatment of wound healing of transposed flap for arteriovenous fistula in systemic scleroderma. ( 28058708 )
2017
7
Pulmonary metastasis from uterine leiomyosarcoma in a patient with limited cutaneous systemic scleroderma. ( 29264076 )
2017
8
Nephrotic syndrome as the first manifestation of juvenile systemic scleroderma. ( 29173697 )
2017
9
Importance of alternative-site blood glucose testing in the diagnosis of artifactual hypoglycaemia in systemic scleroderma. ( 28389064 )
2017
10
Pharmacokinetic optimitzation of CCG-203971: Novel inhibitors of the Rho/MRTF/SRF transcriptional pathway as potential antifibrotic therapeutics for systemic scleroderma. ( 28285914 )
2017
11
Rheopheresis as a causal therapy option for systemic scleroderma (SSc). ( 29036804 )
2017
12
A neoteric multidrug combination: novel approach to limited cutaneous systemic scleroderma involving the face. ( 27033280 )
2016
13
Fixed Implant Supported Rehabilitation of Partially Edentulous Posterior Maxilla in a Patient With Systemic Scleroderma: A Case Report. ( 26671839 )
2016
14
Orofacial Manifestations and Temporomandibular Disorders of Systemic Scleroderma: An Observational Study. ( 27455250 )
2016
15
Caring for the Patient With Limited Systemic Scleroderma. ( 26814000 )
2016
16
Unilateral acquired Brown's syndrome in systemic scleroderma: An unusual cause for diplopia. ( 26669341 )
2015
17
Expression of Let-7 family microRNAs in skin correlates negatively with severity of pulmonary hypertension in patients with systemic scleroderma. ( 28785688 )
2015
18
Pro- and antiangiogenic markers in patients with pulmonary complications of systemic scleroderma. ( 25447676 )
2015
19
Distinguishing between limited systemic scleroderma-associated pseudo-obstruction and peritoneal dissemination. ( 26943389 )
2015
20
Interstitial Lung Disease in Systemic Scleroderma, Complicated with Bilateral Pulmonary Aspergilloma: An Unusual Association. ( 26816937 )
2015
21
Oesophageal stenosis dilatation through retrograde trans-gastrostomal approach in a patient with systemic scleroderma. ( 24956348 )
2014
22
Fat embolism syndrome: an autopsy-proven case involving a patient on dialysis and systemic scleroderma. ( 24526839 )
2014
23
An unusual cause of acute kidney injury due to oxalate nephropathy in systemic scleroderma. ( 25500295 )
2014
24
Comparison of a new, modified lung ultrasonography technique with high-resolution CT in the diagnosis of the alveolo-interstitial syndrome of systemic scleroderma. ( 24567921 )
2014
25
Antiphospholipid antibodies and systemic scleroderma. ( 24385841 )
2013
26
Systemic scleroderma associated with ulnar nerve entrapment at the elbow. ( 24343497 )
2013
27
Clinicopathological study of 81 cases of localized and systemic scleroderma. ( 22620486 )
2013
28
Antiphospholipid antibodies and systemic scleroderma. ( 24385750 )
2013
29
Magnetic resonance imaging findings in patients with systemic scleroderma and musculoskeletal symptoms. ( 22843057 )
2013
30
Case of lung carcinoma revealed by vulvar metastasis associated with systemic scleroderma and literature review. ( 24416551 )
2013
31
Pulmonary artery hypertension associated with systemic scleroderma: correlation among lung pulmonary blood volume, lung perfusion single photon emission computed tomography, and chest computed tomography images. ( 23283858 )
2013
32
Functional impairment of systemic scleroderma patients with digital ulcerations: results from the DUO Registry. ( 23910613 )
2013
33
Cardiac arrhythmia as a side effect of ketanserin therapy in a patient with systemic scleroderma. ( 22507478 )
2012
34
MicroRNA array analysis of microRNAs related to systemic scleroderma. ( 21052672 )
2012
35
Bone density in Moroccan women with systemic scleroderma and its relationships with disease-related parameters and vitamin D status. ( 21947376 )
2012
36
The optimal management of patients with systemic scleroderma and coronary artery disease. ( 22774391 )
2012
37
Cardiovascular assessment of asymptomatic patients with juvenile-onset localized and systemic scleroderma: 10 years prospective observation. ( 22103465 )
2012
38
[Arterial rigidity in patients with systemic scleroderma with or without pulmonary hypertension]. ( 22690566 )
2012
39
Determinants of disability, quality of life and depression in dermatological patients with systemic scleroderma. ( 21916888 )
2012
40
Drug compliance in patients with systemic scleroderma. ( 22875701 )
2012
41
Hearing loss in diffuse cutaneous systemic scleroderma. ( 21916804 )
2011
42
Frequency of disease-associated and other nuclear autoantibodies in patients of the German Network for Systemic Scleroderma: correlation with characteristic clinical features. ( 22018289 )
2011
43
Reduction of regulatory T cells in skin lesions but not in peripheral blood of patients with systemic scleroderma. ( 21097800 )
2011
44
Fingertip calcinosis cutis in an incomplete limited-type systemic scleroderma. ( 21708515 )
2011
45
Vitamin D deficiency in a cohort of patients with systemic scleroderma from the south of Spain. ( 20516041 )
2010
46
Type 1 diabetes mellitus, celiac disease, systemic lupus erythematosus and systemic scleroderma in a 15-year-old girl. ( 19506880 )
2010
47
Study about the association between anticardiolipin antibodies and peripheral vascular phenomena in patients suffering from systemic scleroderma. ( 20676482 )
2010
48
Surgical result of critical limb ischemia due to tibial arterial occlusion in patients with systemic scleroderma. ( 19223137 )
2009
49
[Antibodies to enzymes of purine metabolism as a factor of gastrointestinal tract lesions in systemic scleroderma]. ( 19551958 )
2009
50
Electrocardiographic evaluation in patients with systemic scleroderma and without clinically evident heart disease. ( 19614636 )
2009
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
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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
AGE-RAGE signaling pathway in diabetic complications 37
11.54 EDN1 SELE TGFB1
2
Dendritic Cells Developmental Lineage Pathway 65
11.37 IFNG TGFB1 TLR9
3
Lung fibrosis 1
11.23 CTGF EDN1 TGFB1
4
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.13 CD40LG IFNG SELE
5
Malaria 37
10.79 CD40LG IFNG SELE SELP TGFB1 TLR9
6
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 9.7 ACE CD40LG CRP CTGF EDN1 FBN1
2 extracellular space GO:0005615 9.4 ACE CD40LG CRP CTGF EDN1 FBN1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 CRP CTGF IFNG TGFB1 TLR9
2 inflammatory response GO:0006954 9.63 CD40LG CRP SELE SELP TGFB1 TLR9
3 leukocyte cell-cell adhesion GO:0007159 9.54 CD40LG SELE SELP
4 regulation of regulatory T cell differentiation GO:0045589 9.52 IFNG TGFB1
5 positive regulation of superoxide anion generation GO:0032930 9.51 CRP TGFB1
6 negative regulation of interleukin-17 production GO:0032700 9.49 IFNG TGFB1
7 cellular response to insulin-like growth factor stimulus GO:1990314 9.48 FBN1 TGFB1
8 response to salt GO:1902074 9.43 EDN1 TGFB1
9 positive regulation of interleukin-12 production GO:0032735 9.43 CD40LG IFNG TLR9
10 positive regulation of odontogenesis GO:0042482 9.4 EDN1 TGFB1
11 mononuclear cell proliferation GO:0032943 9.32 ACE TGFB1
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.26 EDN1 FBN1 SNRNP70 TGFB1
13 regulation of signaling receptor activity GO:0010469 9.17 CD40LG CTGF EDN1 FBN1 IFNG MLN

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

# Name GO ID Score Top Affiliating Genes
1 oligosaccharide binding GO:0070492 9.16 SELE SELP
2 sialic acid binding GO:0033691 8.96 SELE SELP
3 cytokine activity GO:0005125 8.92 CD40LG EDN1 IFNG TGFB1
4 protein binding GO:0005515 10.19 CD40LG CENPB CRP CTGF EDN1 EXOSC10
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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