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MCID: DFF003
MIFTS: 41

Diffuse Scleroderma

Categories: Skin diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Diffuse Scleroderma

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MalaCards integrated aliases for Diffuse Scleroderma:

Name: Diffuse Scleroderma 12 15 17 71
Systemic Sclerosis, Diffuse 12
Diffuse Systemic Sclerosis 12
Systemic Scleroderma 71
Scleroderma, Diffuse 44

Classifications:

MalaCards categories:
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:1580
MeSH 44 D045743
NCIt 50 C116791
SNOMED-CT 67 128460000
UMLS 71 C0036421 C1258104
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Summaries for Diffuse Scleroderma

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MalaCards based summary : Diffuse Scleroderma, also known as systemic sclerosis, diffuse, is related to diffuse cutaneous systemic sclerosis and raynaud phenomenon, and has symptoms including pruritus, exanthema and hidebound skin. An important gene associated with Diffuse Scleroderma is FBL (Fibrillarin), and among its related pathways/superpathways are Relaxin signaling pathway and Development Endothelin-1/EDNRA signaling. The drugs Sodium citrate and Ambrisentan have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and lung.

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Related Diseases for Diffuse Scleroderma

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

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 32.0 CCN2 BANK1
2 raynaud phenomenon 30.6 EDN1 CENPB
3 gastric antral vascular ectasia 30.3 TOP1 OXCT1
4 crest syndrome 30.2 TOP1 SNRNP70 FBL EXOSC10 CENPB
5 localized scleroderma 30.1 TGFB1 COL1A1 CCN2
6 interstitial lung disease 29.9 TRIM21 TGFB1 EDN1
7 pulmonary fibrosis 29.9 TGFB1 EDN1 COL1A1 CCN2
8 carpal tunnel syndrome 29.6 TGFB1 COL1A1 CCN2 ACE
9 telangiectasis 29.6 TRIM21 TOP1 SNRNP70 FBL EXOSC10 CENPB
10 scleroderma, familial progressive 29.5 TOP1 FBL EDN1 COL1A2 COL1A1 CENPB
11 systemic scleroderma 29.4 TSSK1B TRIM21 TOP1 TGFB1 SNRNP70 FBL
12 collagen disease 29.1 TRIM21 SNRNP70 COL1A2 COL1A1
13 raynaud disease 29.0 TRIM21 TOP1 SNRNP70 EXOSC10 EDN1 CENPB
14 pulmonary fibrosis, idiopathic 28.5 TGFB1 EDN1 COL1A2 COL1A1 CCN2 ACE
15 connective tissue disease 28.0 TOP1 SNRNP70 FBL EDN1 COL1A2 COL1A1
16 limited scleroderma 27.7 TSSK1B TRIM21 TOP1 SNRNP70 OXCT1 FBL
17 conjunctival vascular disease 10.3 TRIM21 TOP1
18 facial hemiatrophy 10.3 SNRNP70 EXOSC10
19 urethral stricture 10.3 TGFB1 CCN2
20 cholecystolithiasis 10.2 TGFB1 CCN2
21 splenic tuberculosis 10.2 SNRNP70 FBL EXOSC10
22 autoimmune disease 10.2
23 lung disease 10.2
24 urinary tract infection 10.2 TGFB1 ACE
25 posterior urethral valves 10.2 TGFB1 ACE
26 childhood type dermatomyositis 10.2 TRIM21 SNRNP70 EXOSC10
27 intracranial vasospasm 10.1 KNG1 ACE
28 acute apical periodontitis 10.1 KNG1 ACE
29 xerophthalmia 10.1 TRIM21 CENPB
30 granulomatous myositis 10.1 TRIM21 ACE
31 hereditary angioedema with normal c1inh 10.1 KNG1 ACE
32 heart block, congenital 10.1 TRIM21 SNRNP70
33 malignant secondary hypertension 10.1 TRIM21 KNG1 EDN1
34 fibromuscular dysplasia 10.1 TGFB1 ACE
35 familial vesicoureteral reflux 10.1 TGFB1 ACE
36 mononeuritis of upper limb and mononeuritis multiplex 10.1 TRIM21 ACE
37 mononeuritis multiplex 10.1 TRIM21 ACE
38 nephrogenic systemic fibrosis 10.1 TGFB1 EDN1 CCN2
39 ocular cicatricial pemphigoid 10.1 TGFB1 CCN2
40 first-degree atrioventricular block 10.1 TRIM21 ACE
41 hypertensive encephalopathy 10.1 EDN1 ACE
42 idiopathic interstitial pneumonia 10.1 TGFB1 EDN1 CCN2
43 gingival fibromatosis 10.1 TGFB1 EDN1 CCN2
44 kidney papillary necrosis 10.1 EDN1 ACE
45 idiopathic edema 10.1 EDN1 ACE
46 perinephritis 10.1 EDN1 ACE
47 kidney hypertrophy 10.1 CCN2 ACE
48 pulmonary valve insufficiency 10.1 EDN1 ACE
49 systemic lupus erythematosus 10.0
50 pulmonary hypertension 10.0

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



Diseases related to Diffuse Scleroderma
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Symptoms & Phenotypes for Diffuse Scleroderma

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UMLS symptoms related to Diffuse Scleroderma:


pruritus, exanthema, hidebound skin
Sources

Drugs & Therapeutics for Diffuse Scleroderma

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

(show top 50) (show all 263)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
3
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
4
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
5
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
6
Metronidazole Approved Phase 4 443-48-1 4173
7
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
9 Citrate Phase 4
10 Phosphodiesterase Inhibitors Phase 4
11 Sildenafil Citrate Phase 4 171599-83-0
12 Vasodilator Agents Phase 4
13 Anti-Infective Agents Phase 4
14 Anti-Bacterial Agents Phase 4
15 Antihypertensive Agents Phase 4
16 Phosphodiesterase 5 Inhibitors Phase 4
17 Antiprotozoal Agents Phase 4
18 Antiparasitic Agents Phase 4
19 Antipyretics Phase 4
20 Fibrinolytic Agents Phase 4
21 Cyclooxygenase Inhibitors Phase 4
22
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
23
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
24
Nintedanib Approved Phase 3 656247-17-5 56843413
25
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
26
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
27
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
28
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
29
Lactulose Approved Phase 3 4618-18-2 11333
30
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
31
Prilocaine Approved Phase 3 721-50-6 4906
32
Mycophenolic acid Approved Phase 3 24280-93-1 446541
33
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
34
Iloprost Approved, Investigational Phase 3 78919-13-8 6443959
35 Brodalumab Approved, Investigational Phase 3 1174395-19-7
36
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
37
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
38
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
39
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
40
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
41 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
42
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
43
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
44
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
45
Mesna Approved, Investigational Phase 2, Phase 3 3375-50-6 598
46
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
47
Macitentan Approved Phase 3 441798-33-0
48
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
49 Fasudil Investigational Phase 3 103745-39-7
50
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7

Interventional clinical trials:

(show top 50) (show all 393)
# 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 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
4 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
5 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
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 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
8 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
9 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
10 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
11 A Prospective Study of the Utility of Intraoperative, Quantitative Indocyanine Green Angiography in Microvascular Surgery for Systemic Scerlosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
12 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)
13 Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
14 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
15 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
16 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
17 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
18 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
19 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
20 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)
21 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
22 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
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 Rituximab in Systemic Sclerosis Associated Polyarthritis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
25 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
26 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
27 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
28 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)
29 A Randomized, Double-Blinded, Placebo-Controlled Clinical Trial Assessing the Therapeutic Efficacy of Botulinum Toxin In Treating Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
30 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
31 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
32 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Efficacy, Safety and Tolerability of Bosentan in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis Completed NCT00070590 Phase 2, Phase 3 Bosentan
33 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
34 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
35 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma: A Double Blind, Parallel Group, Multicentric Study Completed NCT01117298 Phase 3 Tadalafil;Placebo
36 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
37 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
38 A Double Blind Randomized Control Trial of Tadalafil in Interstitial Lung Disease of Scleroderma Completed NCT01553981 Phase 3 Tadalafil;Placebo
39 A Phase II/III, Multicenter, Randomized, Double-blind, Placebo-controlled Study To Assess The Efficacy And Safety Of Tocilizumab Versus Placebo In Patients With Systemic Sclerosis Completed NCT01532869 Phase 3 Placebo;tocilizumab [RoActemra/Actemra];tocilizumab [RoActemra/Actemra]
40 Intravenous Cyclophosphamide for the Treatment of Systemic Sclerosis Associated Interstitial Lung Disease Completed NCT01570764 Phase 3 Cyclophosphamide;Placebo
41 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
42 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
43 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
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 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
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 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
48 A Phase III, Randomized, Double-blind, Placebo Controlled, Multicenter Clinical Trial to Evaluate the Efficacy and Safety of Pirfenidone in Subjects With Systemic Sclerosis-associated Interstitial Lung Disease (SSc-ILD) Recruiting NCT03856853 Phase 3 Pirfenidone
49 A Multicenter, Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study Evaluating the Safety and Efficacy of Intravenous Iloprost in Subjects With Systemic Sclerosis Experiencing Symptomatic Digital Ischemic Episodes (AURORA Study) Recruiting NCT04040322 Phase 3 Placebo IV infusion;Iloprost Injection, for intravenous use
50 CompRehensive Phenotypic Characterization of Patients With Scleroderma-Associated Interstitial Lung DiseasE and Pulmonary Hypertension (PH): The CRuSADE PH Study Recruiting NCT03726398 Phase 2, Phase 3 Opsumit 10 Mg Tablet

Search NIH Clinical Center for Diffuse Scleroderma

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Chloroquine
Chloroquine hydrochloride
chloroquine phosphate
Epoprostenol
Epoprostenol Sodium
Potassium aminobenzoate
Tolazoline
Tolazoline Hydrochloride

Cochrane evidence based reviews: scleroderma, diffuse

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Genetic Tests for Diffuse Scleroderma

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Anatomical Context for Diffuse Scleroderma

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MalaCards organs/tissues related to Diffuse Scleroderma:

40
Skin, Endothelial, Lung, Eye, Heart, Salivary Gland, Neutrophil
Sources

Publications for Diffuse Scleroderma

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Articles related to Diffuse Scleroderma:

(show top 50) (show all 437)
# Title Authors PMID Year
1
Scleroderma Renal Crisis: Observations from the South Australian Scleroderma Register. 61
32043674 2020
2
Effects of N-acetylcysteine on Pulmonary Functions in Patients with Systemic Sclerosis: A Randomized Double Blind, Placebo Controlled Study. 61
31830885 2020
3
Avocado-Soybean Unsaponifiables: A Panoply of Potentialities to Be Exploited. 61
31940989 2020
4
CCN1 expression by fibroblasts is required for bleomycin-induced skin fibrosis. 61
33543008 2019
5
The evaluation of a home-based program for hands in patients with systemic sclerosis. 61
29198478 2019
6
Comment on: Intravenous cyclophosphamide vs rituximab for the treatment of early diffuse scleroderma lung disease: open label, randomized, controlled trial: reply. 61
30809671 2019
7
Comment on: Intravenous cyclophosphamide vs rituximab for the treatment of early diffuse scleroderma lung disease: open label, randomized, controlled trial. 61
30809674 2019
8
Comment on: Intravenous cyclophosphamide vs rituximab for the treatment of early diffuse scleroderma lung disease: open label, randomized, controlled trial: reply. 61
30933265 2019
9
Intravenous cyclophosphamide vs rituximab for the treatment of early diffuse scleroderma lung disease: open label, randomized, controlled trial. 61
30053212 2018
10
High serum levels of silica nanoparticles in systemic sclerosis patients with occupational exposure: Possible pathogenetic role in disease phenotypes. 61
30093240 2018
11
Muscle disease in scleroderma. 61
30148800 2018
12
Autoantibodies and scleroderma phenotype define subgroups at high-risk and low-risk for cancer. 61
29678941 2018
13
The role of nailfold capillary dropout on mortality in systemic sclerosis. 61
29363856 2018
14
Subcorneal Pustular Dermatosis: A Case Report of a Patient with Diffuse Scleroderma. 61
29930923 2018
15
Endothelin-1, α-Klotho, 25(OH) Vit D levels and severity of disease in scleroderma patients. 61
28831601 2017
16
Fatigue in patients with systemic sclerosis and hypothyroidism. A review of the literature and report of our experience. 61
28375832 2017
17
Serum prolidase activity in systemic sclerosis. 61
28534076 2017
18
The Therapeutic Efficacy of Botulinum Toxin in Treating Scleroderma-Associated Raynaud's Phenomenon: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial. 61
28426903 2017
19
Scleroderma Induced by Pembrolizumab: A Case Series. 61
28599746 2017
20
Long-term efficacy and tolerability of mycophenolate mofetil therapy in diffuse scleroderma skin disease. 61
28337853 2017
21
Histopathological findings in systemic sclerosis-related myopathy: fibrosis and microangiopathy with lack of cellular inflammation. 61
28101144 2017
22
Predicting improvement in diffuse scleroderma: lessons learnt. 61
27221693 2016
23
Scleroderma in a Patient on Capecitabine: Is this a Variant of Hand-Foot Syndrome? 61
27493845 2016
24
[Kidneys in diffuse systemic sclerosis]. 61
28033593 2016
25
[Silica-associated systemic sclerosis occurring after an occupational exposure to arc welding]. 61
28292033 2016
26
Clinical peculiarities of patients with scleroderma exposed to silica: A systematic review of the literature. 61
26186806 2015
27
Spectrum of Muscle Histopathologic Findings in Forty-Two Scleroderma Patients With Weakness. 61
25989455 2015
28
Intravenous cyclophosphamide as a therapeutic option for severe refractory gastric antral vascular ectasia in systemic sclerosis. 61
26429218 2015
29
[Autoantibodies in systemic sclerosis and their clinical correlation in patients from a Midwestern region of Brazil]. 61
25559063 2015
30
Splenic Pseudoaneursym as the Cause of Recurrent Gastrointestinal Bleeding in a Woman With Diffuse Scleroderma. 61
26157926 2015
31
Scleroderma: nomenclature, etiology, pathogenesis, prognosis, and treatments: facts and controversies. 61
23806160 2013
32
Subcutaneous calcifications in a patient with diffuse scleroderma. 61
23910621 2013
33
[Pulmonary hypertension associated with connective tissue diseases]. 61
23732415 2013
34
Imatinib mesylate in scleroderma-associated diffuse skin fibrosis: a phase II multicentre randomized double-blinded controlled trial. 61
23039171 2012
35
Systemic sclerosis-dermatological aspects. Part 1: Pathogenesis, epidemiology, clinical findings. 61
22913330 2012
36
Egr-ly awaiting a "personalized medicine" approach to treat scleroderma. 61
22350706 2012
37
Toward personalized medicine in scleroderma: classification of scleroderma patients into stable "inflammatory" and "fibrotic" subgroups. 61
22499038 2012
38
Iatrogenic hydropneumopericardium. 61
22555752 2012
39
Successful treatment of steroid and cyclophosphamide-resistant diffuse scleroderma-associated interstitial lung disease with rituximab. 61
20058013 2012
40
South Australian Scleroderma Register: autoantibodies as predictive biomarkers of phenotype and outcome. 61
22324953 2012
41
Successful treatment of long-term severe progressive interstitial pneumonia with low-dose corticosteroid and azathioprine in a patient with diffuse systemic sclerosis. 61
23082272 2012
42
[Acquired Gitelman syndrome associated with Sjögren's syndrome and scleroderma]. 61
20888090 2011
43
Esophageal dysmotility associated with systemic sclerosis: a high-resolution manometry study. 61
21166734 2011
44
Atypical clinical presentation of a subset of patients with anti-RNA polymerase III--non-scleroderma cases associated with dominant RNA polymerase I reactivity and nucleolar staining. 61
21781293 2011
45
Long-term experience of mycophenolate mofetil for treatment of diffuse cutaneous systemic sclerosis. 61
21378404 2011
46
Survival in scleroderma: results from the population-based South Australian Register. 61
20546058 2011
47
Skin thickness progression rate: a predictor of mortality and early internal organ involvement in diffuse scleroderma. 61
20679474 2011
48
Bosentan treatment for Raynauds phenomenon and skin fibrosis in patients with Systemic Sclerosis and pulmonary arterial hypertension: an open-label, observational, retrospective study. 61
21244767 2010
49
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. 61
19812599 2010
50
Reversible posterior leukoencephalopathy in diffuse scleroderma. 61
20576217 2010
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Variations for Diffuse Scleroderma

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Expression for Diffuse Scleroderma

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Search GEO for disease gene expression data for Diffuse Scleroderma.
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Pathways for Diffuse Scleroderma

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

# Super pathways Score Top Affiliating Genes
1
Relaxin signaling pathway 36
Show member pathways
 12.26 TGFB1 EDN1 COL1A2 COL1A1
2
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.21 KNG1 EDN1 COL1A2 COL1A1
3
Amoebiasis 36
11.44 TGFB1 COL1A2 COL1A1
4
ACE Inhibitor Pathway, Pharmacodynamics 60
Show member pathways
 11.23 TGFB1 KNG1 ACE
5
Lung fibrosis 1
10.93 TGFB1 EDN1 CCN2
6
AGE-RAGE signaling pathway in diabetic complications 36
10.92 TGFB1 EDN1 COL1A2 COL1A1
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GO Terms for Diffuse Scleroderma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.46 TGFB1 COL1A2 COL1A1 CCN2
2 collagen-containing extracellular matrix GO:0062023 9.35 TGFB1 KNG1 COL1A2 COL1A1 CCN2
3 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.8 TGFB1 EDN1 CCN2 ACE
2 response to estradiol GO:0032355 9.69 TGFB1 COL1A1 CCN2
3 regulation of blood pressure GO:0008217 9.58 EDN1 COL1A2 ACE
4 cellular response to transforming growth factor beta stimulus GO:0071560 9.54 TGFB1 EDN1 COL1A1
5 negative regulation of blood coagulation GO:0030195 9.48 KNG1 EDN1
6 extracellular matrix assembly GO:0085029 9.46 TGFB1 COL1A2
7 skin morphogenesis GO:0043589 9.43 COL1A2 COL1A1
8 response to drug GO:0042493 9.35 TOP1 TGFB1 OXCT1 EDN1 COL1A1
9 response to salt GO:1902074 9.32 TGFB1 EDN1
10 connective tissue development GO:0061448 9.26 TGFB1 CCN2
11 positive regulation of odontogenesis GO:0042482 9.16 TGFB1 EDN1
12 mononuclear cell proliferation GO:0032943 8.62 TGFB1 ACE

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1
Sources

Sources for Diffuse Scleroderma

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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
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46 MGI
49 NCI
50 NCIt
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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