DCSSC
MCID: DFF035
MIFTS: 48

Diffuse Cutaneous Systemic Sclerosis (DCSSC)

Categories: Bone diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Diffuse Cutaneous Systemic Sclerosis

MalaCards integrated aliases for Diffuse Cutaneous Systemic Sclerosis:

Name: Diffuse Cutaneous Systemic Sclerosis 52 58
Progressive Cutaneous Systemic Scleroderma 52 58
Progressive Cutaneous Systemic Sclerosis 52 58
Diffuse Cutaneous Systemic Scleroderma 52 58
Diffuse Scleroderma 71
Dcssc 52

Characteristics:

Orphanet epidemiological data:

58
diffuse cutaneous systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Diffuse Cutaneous Systemic Sclerosis

NIH Rare Diseases : 52 Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) characterized by skin hardening (fibrosis) and problems in many organs of the body. The disease can occur at any age but mainly affects people between 40 and 50 years of age. Symptoms include Raynaud's phenomenon ; skin fibrosis beginning on the fingers and face that rapidly becomes generalized; "spider veins" (telangiectasias) on the thorax, face, lips, tongue, and fingers; gastroesophageal reflux ; and difficulty eating (dysphagia ) along with weight loss, vomiting, diarrhea or constipation. Dry mouth and dental involvement can occur. Joint pain (arthralgias), muscular pain, weakness, cramps, and destruction of the tips of the fingers or toes (acroosteolysis) are frequent. Severe problems involving the lung (fibrosis or pulmonary hypertension ) and kidney problems may also occur. The exact cause of the condition is unknown. There is currently no cure. Treatment depends of the symptoms, but may include medication and surgery.

MalaCards based summary : Diffuse Cutaneous Systemic Sclerosis, also known as progressive cutaneous systemic scleroderma, is related to scleroderma, familial progressive and systemic scleroderma. An important gene associated with Diffuse Cutaneous Systemic Sclerosis is IRF5 (Interferon Regulatory Factor 5), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and kidney, and related phenotypes are gastroesophageal reflux and dyspnea

Related Diseases for Diffuse Cutaneous Systemic Sclerosis

Diseases related to Diffuse Cutaneous Systemic Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 32.9 FBN1 CCN2
2 systemic scleroderma 31.2 STAT4 IRF5 ICOSLG FBN1 CCR6 CCN2
3 skin disease 29.4 THBS1 SIGLEC1 ICOSLG COMP CCR6
4 idiopathic interstitial pneumonia 29.3 THBS1 CCR6 CCN2
5 autoimmune disease 28.8 STAT4 MIF IRF5 ICOSLG HLA-DRB1 CCR6
6 connective tissue disease 28.4 ICOSLG HLA-DRB1 FBN1 CCR6 CCN2
7 rheumatoid arthritis 27.9 STAT4 SIGLEC1 MIF IRF5 HLA-DRB1 COMP
8 raynaud phenomenon 10.3
9 interstitial lung disease 10.2
10 autoimmune hepatitis type 1 10.2 ICOS HLA-DRB1
11 pulmonary hypertension 10.2
12 pulmonary fibrosis 10.2
13 lung disease 10.2
14 autoimmune neuropathy 10.2 SIGLEC1 ICOSLG
15 nontuberculous mycobacterial lung disease 10.2 HLA-DRB1 FBN1
16 chondromalacia 10.1 TREM1 COMP
17 vasculitis 10.1
18 rheumatoid factor-negative juvenile idiopathic arthritis 10.1 STAT4 HLA-DRB1
19 rheumatoid vasculitis 10.1 MIF HLA-DRB1
20 rheumatic disease 10.0
21 enthesopathy 10.0
22 neuropathy 10.0
23 anca-associated vasculitis 10.0
24 cytokine deficiency 10.0
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
26 inflammatory bowel disease 14 9.9 IRF5 CCN2
27 oligoarticular juvenile idiopathic arthritis 9.9 STAT4 MIF HLA-DRB1
28 pulmonary arterial hypertension associated with congenital heart disease 9.9 CCN2 CAV1
29 pityriasis rubra pilaris 9.9
30 pulmonary hypertension, primary, 1 9.9
31 raynaud disease 9.9
32 dowling-degos disease 1 9.9
33 proteasome-associated autoinflammatory syndrome 1 9.9
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
35 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.9
36 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
37 diffuse large b-cell lymphoma 9.9
38 dental abscess 9.9
39 dermatomyositis 9.9
40 disseminated intravascular coagulation 9.9
41 pneumocystosis 9.9
42 esophagitis 9.9
43 telangiectasis 9.9
44 acute cystitis 9.9
45 urticaria 9.9
46 diffuse scleroderma 9.9
47 calcinosis 9.9
48 hyperuricemia 9.9
49 gastric antral vascular ectasia 9.9
50 synovitis 9.9

Graphical network of the top 20 diseases related to Diffuse Cutaneous Systemic Sclerosis:



Diseases related to Diffuse Cutaneous Systemic Sclerosis

Symptoms & Phenotypes for Diffuse Cutaneous Systemic Sclerosis

Human phenotypes related to Diffuse Cutaneous Systemic Sclerosis:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
2 dyspnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002094
3 pulmonary infiltrates 58 31 hallmark (90%) Very frequent (99-80%) HP:0002113
4 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
5 oliguria 58 31 hallmark (90%) Very frequent (99-80%) HP:0100520
6 narrow foramen obturatorium 58 31 hallmark (90%) Very frequent (99-80%) HP:0100958
7 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
10 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
11 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
12 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
13 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
14 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
15 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
16 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
17 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
18 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
19 dyspareunia 58 31 frequent (33%) Frequent (79-30%) HP:0030016
20 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
21 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
22 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
23 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
24 hypertensive crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100735
25 abnormal bowel sounds 58 31 occasional (7.5%) Occasional (29-5%) HP:0030142
26 abnormality of the skin 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Diffuse Cutaneous Systemic Sclerosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.9 BANK1 CAV1 CCR6 FBN1 ICOS IRF5
2 homeostasis/metabolism MP:0005376 9.73 CAV1 CCN2 CCR6 COMP FBN1 ICOS
3 immune system MP:0005387 9.4 BANK1 CAV1 CCR6 COMP FBN1 ICOS

Drugs & Therapeutics for Diffuse Cutaneous Systemic Sclerosis

Drugs for Diffuse Cutaneous Systemic Sclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 179)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
4
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
5
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
6
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
7
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
8
Sodium citrate Approved, Investigational Phase 3 68-04-2
9
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
10
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
11
Lenograstim Approved, Investigational Phase 3 135968-09-1
12
Macitentan Approved Phase 2, Phase 3 441798-33-0
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
14
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
15 Fasudil Investigational Phase 3 103745-39-7
16 Protective Agents Phase 2, Phase 3
17 Platelet Aggregation Inhibitors Phase 2, Phase 3
18 Respiratory System Agents Phase 2, Phase 3
19 Free Radical Scavengers Phase 2, Phase 3
20 N-monoacetylcystine Phase 2, Phase 3
21 Antiviral Agents Phase 2, Phase 3
22 Antioxidants Phase 2, Phase 3
23 Antidotes Phase 2, Phase 3
24 Expectorants Phase 2, Phase 3
25 Protein Kinase Inhibitors Phase 3
26 Antirheumatic Agents Phase 3
27 Hormones Phase 3
28 Immunosuppressive Agents Phase 3
29 Alkylating Agents Phase 3
30 Neuromuscular Agents Phase 3
31 Vasodilator Agents Phase 3
32 Phosphodiesterase Inhibitors Phase 3
33 Phosphodiesterase 5 Inhibitors Phase 3
34 Anesthetics, Local Phase 2, Phase 3
35 Anti-Arrhythmia Agents Phase 2, Phase 3
36 Sodium Channel Blockers Phase 2, Phase 3
37 Central Nervous System Depressants Phase 2, Phase 3
38 Diuretics, Potassium Sparing Phase 2, Phase 3
39 Adjuvants, Immunologic Phase 3
40 Interferon Inducers Phase 3
41 interferons Phase 3
42 Anticoagulants Phase 3
43 Citrate Phase 3
44 Chelating Agents Phase 3
45 Calcium, Dietary Phase 3
46 Neurotransmitter Agents Phase 3
47 Acetylcholine Release Inhibitors Phase 3
48 abobotulinumtoxinA Phase 3
49 Botulinum Toxins Phase 3
50 insulin Phase 3

Interventional clinical trials:

(show top 50) (show all 114)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Vaccination Against Influenza in Patients With Scleroderma Unknown status NCT01002508 Phase 4
2 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
3 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
4 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)
5 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
6 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
7 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)
8 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
9 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
10 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
11 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
12 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)
13 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
14 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
15 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
16 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
17 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
18 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Phase 3 Trial to Evaluate Efficacy and Safety of Lenabasum in Diffuse Cutaneous Systemic Sclerosis Active, not recruiting NCT03398837 Phase 3 Lenabasum 5 mg;Lenabasum 20 mg
19 A Double-Blind Placebo-Controlled Pilot Study of Safety and Tolerability of AIMSPRO in Established Diffuse Cutaneous Systemic Sclerosis Unknown status NCT00769028 Phase 2 Hyperimmune caprine serum;Albumin
20 Treatment of Refractory Sever Systemic Scleroderma by Injection of Allogeneic Mesenchymal Stem Cells Unknown status NCT02213705 Phase 1, Phase 2
21 Assessment of the Efficacy and Tolerance of Sub-cutaneous Re-injection of Autologous Adipose-derived REGEnerative Cells in the Local Treatment of Neuropathic Diabetic Foot ulcERs Unknown status NCT02866565 Phase 2 adipose-derived regenerative cells (ADRCs)
22 Evaluation of Tofacitinib in Early Diffuse Cutaneous Systemic Sclerosis (dcSSc): A Phase I/II Two Center Safety and Tolerability Study Completed NCT03274076 Phase 1, Phase 2 Tofacitinib;Placebo Oral Tablet
23 A Randomized, Double-Blind, Placebo-Controlled Phase II Study to Investigate the Efficacy and Safety of Riociguat in Patients With Diffuse Cutaneous Systemic Sclerosis (dcSSc) Completed NCT02283762 Phase 2 Riociguat (Adempas, BAY63-2521);Placebo
24 A Phase 2 Study to Evaluate Subcutaneous Abatacept vs. Placebo in Diffuse Cutaneous Systemic Sclerosis- a Double-blind, Placebo-controlled, Randomized Controlled Trial. Completed NCT02161406 Phase 2 Abatacept;Placebo
25 A Randomized, Double-blind, Placebo-controlled, Multicentre Proof-of-concept Trial of IVA337 in the Treatment of Diffuse Cutaneous Systemic Sclerosis Completed NCT02503644 Phase 2 IVA337;Placebo
26 Efficacy and Safety of SAR156597 in the Treatment of Diffuse Cutaneous Systemic Sclerosis (dcSSc): A Randomized, Double-blind, Placebo-controlled, 24-week, Proof of Concept Study Completed NCT02921971 Phase 2 SAR156597 (ACT14604);Placebo
27 Belimumab for the Treatment of Diffuse Cutaneous Systemic Sclerosis: A Phase 2a, Single-centered, Randomized, Placebo-controlled, Double-blind, Proof-of-concept Pilot Study. Completed NCT01670565 Phase 2 Belimumab
28 Double-blind, Randomized, 8-week Placebo-controlled, and 16-week Open-label Extension Study Investigating the Safety, Pharmacokinetics and Pharmacodynamics of SAR100842 Given Orally to Patients With Diffuse Cutaneous Systemic Sclerosis Completed NCT01651143 Phase 2 SAR100842;Placebo (for SAR100842)
29 An Open Label Study to Evaluate the Safety of Dasatinib in the Treatment of Scleroderma Pulmonary Interstitial Fibrosis Completed NCT00764309 Phase 1, Phase 2 dasatinib
30 DISTOL-1: Digital Ischemic Lesions in Scleroderma Treated With Oral Treprostinil Diethanolamine: A Randomized, Double-blind, Placebo-controlled, Multicenter Study Completed NCT00775463 Phase 2 treprostinil diethanolamine;placebo
31 Randomized, Double-Blind, Placebo-Controlled Trial if IL1-TRAP, Rilonacept, in Systemic Sclerosis -A Phase I/II Biomarker Trial Completed NCT01538719 Phase 1, Phase 2 Rilonacept
32 Multicenter Phase II Trial of Oral Type I Bovine Collagen in Scleroderma Completed NCT00005675 Phase 2 Oral bovine type I collagen;Placebo
33 Phase II Randomized Double Blind Clinical Trial of'Imatinib Mesylate STI571 (Glivec®) Versus Placebo in Patients With Severe Cutaneous Scleroderma or Systemic Sclerosis With Severe Cutaneous Involvement. Completed NCT00479934 Phase 2 imatinib mesylate
34 A Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Patients With Systemic Sclerosis Completed NCT00442611 Phase 1, Phase 2 Abatacept;Placebo
35 A Multi-center Randomized, Double Blind, Placebo-controlled, Pilot Study to Assess the Efficacy and Safety of Riociguat in Scleroderma - Associated Digital Ulcers Completed NCT02915835 Phase 2 Riociguat;Placebo
36 A Phase II, Single Centre, Randomised, Placebo-controlled, 3-part Trial to Assess the Safety, Tolerability and Efficacy of Zibotentan in Patients With Renal Disease Secondary to Scleroderma Completed NCT02047708 Phase 2 Zibotentan
37 Effect of Bosentan in the Course of Scleroderma Renal Crisis Completed NCT01241383 Phase 2 Bosentan
38 Trial of High Dose Cyclophosphamide and Rabbit Antithymocyte Globulin (rATG) With Hematopoietic Stem Cell Support in Patients With Systemic Scleroderma: A Randomized Trial Completed NCT00278525 Phase 2 standard of care
39 Psychosocial Interventions for Scleroderma Completed NCT00007267 Phase 2
40 Mycophenolate vs. Oral Cyclophosphamide in Scleroderma Interstitial Lung Disease (Scleroderma Lung Study II) Completed NCT00883129 Phase 2 Mycophenolate mofetil;Cyclophosphamide;Placebo
41 Assessing and Comparing the Effect of Diltiazem Gel Versus Nitroglycerin Ointment in Healing Process of Scleroderma Digital Ulcers. Completed NCT02801305 Phase 2 Diltiazem Gel 2%;Nitroglycerin Ointment 2%;Vaseline
42 A Pilot Study of Adcetris Treatment in Active Diffuse Cutaneous Systemic Sclerosis (Diffuse Scleroderma) Recruiting NCT03198689 Phase 2 Brentuximab Vedotin
43 A Phase II Randomised Controlled Study of Oral Prednisolone in Early Diffuse Cutaneous Systemic Sclerosis Recruiting NCT03708718 Phase 2 Prednisolone 5 mg;Placebo oral capsule
44 A Phase 2 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Efficacy of Ifetroban in Patients With Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension (SSc-PAH) Recruiting NCT02682511 Phase 2 Oral Ifetroban;Oral Placebo
45 Evaluation of Brentuximab Vedotin for Diffuse Cutaneous Systemic Sclerosis BRAVOS: A Phase 1/2 Multicenter Randomized, Double Blinded, Safety Study (ITN075AI) Recruiting NCT03222492 Phase 1, Phase 2
46 A Phase 2, Randomized, Placebo-controlled, Double-blind, Open-label Extension Multicenter Study to Evaluate the Efficacy and Safety of KD025 in Subjects With Diffuse Cutaneous Systemic Sclerosis Recruiting NCT03919799 Phase 2 KD025;Placebo
47 A Multi-center, Randomized, Double-blind (Sponsor Open), Placebo-controlled, Repeat-dose, Proof of Mechanism Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Explore Efficacy of GSK2330811 in Participants With Diffuse Cutaneous Systemic Sclerosis Recruiting NCT03041025 Phase 2 GSK2330811;Placebo
48 A Randomized, Double-Blind, Placebo-Controlled Study of Belimumab and Rituximab Combination Therapy for the Treatment of Diffuse Cutaneous Systemic Sclerosis Recruiting NCT03844061 Phase 2 Belimumab;Rituximab;MMF
49 Highdose Chemotherapy and Transplantation of 34+ Selected Stem Cell for Progressive Systemic Sclerosis - Modification According to Manifestation Recruiting NCT01895244 Phase 2 Autologous stemcell transplantation with CD (cluster of differentiation) 34 selected stem cells
50 Scleroderma Lung Study III (SLS III): Combining the Anti-fibrotic Effects of Pirfenidone (PFD) With Mycophenolate (MMF) for Treating Scleroderma-related Interstitial Lung Disease Recruiting NCT03221257 Phase 2 Pirfenidone (PFD);Placebo (Plac);Mycophenolate Mofetil (MMF)

Search NIH Clinical Center for Diffuse Cutaneous Systemic Sclerosis

Genetic Tests for Diffuse Cutaneous Systemic Sclerosis

Anatomical Context for Diffuse Cutaneous Systemic Sclerosis

MalaCards organs/tissues related to Diffuse Cutaneous Systemic Sclerosis:

40
Skin, Lung, Kidney, Tongue, Heart, Endothelial, Bone

Publications for Diffuse Cutaneous Systemic Sclerosis

Articles related to Diffuse Cutaneous Systemic Sclerosis:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Successful therapy for diffuse cutaneous systemic sclerosis-induced digital ulcer treated with hyperbaric oxygen therapy. 61
31793051 2020
2
Recurrence of progressive skin involvement following discontinuation or dose reduction of Mycophenolate Mofetil treatment in patients with diffuse Systemic Sclerosis. 61
31311679 2020
3
Changes in skin score in early diffuse cutaneous systemic sclerosis are associated with changes in global disease severity. 61
31359048 2020
4
Serodiscordant patients with systemic sclerosis: when antibody does not correspond to skin involvement. 61
31969223 2020
5
Abatacept in Early Diffuse Cutaneous Systemic Sclerosis: Results of a Phase II Investigator-Initiated, Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial. 61
31342624 2020
6
Hypercalcemia Heralding Pneumocystis jirovecii Pneumonia in an HIV-Seronegative Patient with Diffuse Cutaneous Systemic Sclerosis. 61
31729682 2019
7
Treatment decision-making in diffuse cutaneous systemic sclerosis: a patient's perspective. 61
31808528 2019
8
Toll-Like Receptor Mediated Activation of Natural Autoantibody Producing B Cell Subpopulations in an Autoimmune Disease Model. 61
31817576 2019
9
Progranulin autoantibodies in systemic sclerosis and autoimmune connective tissue disorders: A preliminary study. 61
31502765 2019
10
Global skin gene expression analysis of early diffuse cutaneous systemic sclerosis shows a prominent innate and adaptive inflammatory profile. 61
31767698 2019
11
Skin improvement is a surrogate for favourable changes in other organ systems in early diffuse cutaneous systemic sclerosis. 61
31774531 2019
12
Proteinase 3 (PR3)-antineutrophil cytoplasmic antibody (ANCA)-associated vasculitic neuropathy in diffuse cutaneous systemic sclerosis: a rare duo. 61
31776158 2019
13
Memory CD4+ T cells lacking expression of CCR7 promote pro-inflammatory cytokine production in patients with diffuse cutaneous systemic sclerosis. 61
31789272 2019
14
Epstein-Barr virus-associated primary central nervous system lymphoma in a patient with diffuse cutaneous systemic sclerosis on long-term mycophenolate mofetil. 61
31669807 2019
15
Diffused Alveolar Hemorrhage in the Setting of Scleroderma Renal Crisis. 61
31431838 2019
16
Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease. 61
31112379 2019
17
Progressive skin fibrosis is associated with a decline in lung function and worse survival in patients with diffuse cutaneous systemic sclerosis in the European Scleroderma Trials and Research (EUSTAR) cohort. 61
30852552 2019
18
Muscle endurance, strength, and active range of motion in patients with different subphenotypes in systemic sclerosis: a cross-sectional cohort study. 61
30070598 2019
19
Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis. 61
30238381 2019
20
Association of Serum Homocysteine Level and Interstitial Lung Disease in Systemic Sclerosis: A Case-control Study. 61
29956634 2019
21
Characteristics of patients with systemic sclerosis living in Qatar. 61
31903322 2019
22
Minimal Clinically Important Differences for the Modified Rodnan Skin Score: Results from the Scleroderma Lung Studies (SLS-I and SLS-II). 61
30651141 2019
23
B-type Natriuretic Peptide as a Marker of Different Forms of Systemic Sclerosis. 61
30584399 2018
24
Lysophosphatidic Acid Receptor 1 Antagonist SAR100842 for Patients With Diffuse Cutaneous Systemic Sclerosis: A Double-Blind, Randomized, Eight-Week Placebo-Controlled Study Followed by a Sixteen-Week Open-Label Extension Study. 61
29732731 2018
25
Autologous haematopoietic stem cell transplantation (aHSCT) for severe resistant autoimmune and inflammatory diseases - a guide for the generalist. 61
30072560 2018
26
Randomised, double-blind, placebo-controlled trial of IL1-trap, rilonacept, in systemic sclerosis. A phase I/II biomarker trial. 61
30277862 2018
27
A 44-year-old man with hemoptysis. 61
29970778 2018
28
Skin Gene Expression Is Prognostic for the Trajectory of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis. 61
29858547 2018
29
Factors influencing early referral, early diagnosis and management in patients with diffuse cutaneous systemic sclerosis. 61
29415230 2018
30
Patterns and predictors of skin score change in early diffuse systemic sclerosis from the European Scleroderma Observational Study. 61
29306872 2018
31
Two years follow-up of an open-label pilot study of treatment with rituximab in patients with early diffuse cutaneous systemic sclerosis. 61
28891418 2018
32
Clinical Efficacy and Safety of Bathing with Chinese Medicine Taohong Siwu Decoction () for Treatment of Diffuse Cutaneous Systemic Sclerosis: A Randomized Placebo-Controlled Trial. 61
28197938 2018
33
Efficacy of Mycophenolate Mofetil and Oral Cyclophosphamide on Skin Thickness: Post Hoc Analyses From Two Randomized Placebo-Controlled Trials. 61
28544580 2018
34
Autologous hematopoietic stem cell transplantation in systemic sclerosis: A reset to tolerance? 61
29155233 2018
35
Disability, fatigue, pain and their associates in early diffuse cutaneous systemic sclerosis: the European Scleroderma Observational Study. 61
29207002 2018
36
Belimumab for the Treatment of Early Diffuse Systemic Sclerosis: Results of a Randomized, Double-Blind, Placebo-Controlled, Pilot Trial. 61
29073351 2018
37
Patient acceptable symptom state in scleroderma: results from the tocilizumab compared with placebo trial in active diffuse cutaneous systemic sclerosis. 61
29077900 2018
38
ANCA-Associated Vasculitis Co-Occurrence With Systemic Sclerosis: A Case Report of a Rare Diagnostic Dilemma. 61
30083557 2018
39
Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma. 61
29298160 2018
40
A prospective, open-label, non-comparative study of ambrisentan with anti-fibrotic agent combination therapy in the treatment of diffuse systemic sclerosis. 61
30886964 2018
41
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review. 61
28712039 2017
42
The relationship between the degree of skin fibrosis by sonoelastography and the degree of pulmonary involvement in scleroderma 61
29151332 2017
43
Successful treatment of continuous intra-arterial administration of prostaglandin E1, urokinase and heparin for intractable digital ulcers by upper extremity arterial occlusion in diffuse cutaneous systemic sclerosis patient. 61
28691232 2017
44
An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis. 61
28668810 2017
45
Replacement myocardial fibrosis at the site of late gadolinium enhancement on magnetic resonance imaging in a patient with diffuse cutaneous systemic sclerosis: An autopsy report. 61
30279795 2017
46
Treatment outcome in early diffuse cutaneous systemic sclerosis: the European Scleroderma Observational Study (ESOS). 61
28188239 2017
47
UVA1 for diffuse cutaneous systemic sclerosis in a Fitzpatrick skin type VI patient: outcomes in the modified Rodnan skin score. 61
28375193 2017
48
Reliability and Validity of the Tender and Swollen Joint Counts and the Modified Rodnan Skin Score in Early Diffuse Cutaneous Systemic Sclerosis: Analysis from the Prospective Registry of Early Systemic Sclerosis Cohort. 61
28298560 2017
49
Clinical utility of hypo- and hyperpigmentation of skin in diffuse cutaneous systemic sclerosis. 61
28261995 2017
50
Proteomic Analysis of Sera from Individuals with Diffuse Cutaneous Systemic Sclerosis Reveals a Multianalyte Signature Associated with Clinical Improvement during Imatinib Mesylate Treatment. 61
28298564 2017

Variations for Diffuse Cutaneous Systemic Sclerosis

Expression for Diffuse Cutaneous Systemic Sclerosis

Search GEO for disease gene expression data for Diffuse Cutaneous Systemic Sclerosis.

Pathways for Diffuse Cutaneous Systemic Sclerosis

Pathways related to Diffuse Cutaneous Systemic Sclerosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 UBE2L3 TREM1 SIGLEC1 MIF IRF5 IFI16
2 12.07 STAT4 IRF5 IFI16 ICOS
3
Show member pathways
11.49 ICOSLG ICOS HLA-DRB1 CAV1
4 11.36 THBS1 IRF5 IFI16
5 11.09 SIGLEC1 ICOSLG ICOS HLA-DRB1

GO Terms for Diffuse Cutaneous Systemic Sclerosis

Cellular components related to Diffuse Cutaneous Systemic Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 TREM1 THBS1 SIGLEC1 MIF ICOS FBN1
2 collagen-containing extracellular matrix GO:0062023 9.56 THBS1 FBN1 COMP CCN2
3 external side of plasma membrane GO:0009897 9.35 THBS1 ICOSLG ICOS HLA-DRB1 CCR6
4 extracellular matrix GO:0031012 9.02 THBS1 FBN1 COMP COL22A1 CCN2

Biological processes related to Diffuse Cutaneous Systemic Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.65 MIF IRF5 IFI16 ICOSLG HLA-DRB1
2 extracellular matrix organization GO:0030198 9.26 THBS1 FBN1 COMP COL22A1
3 chondrocyte proliferation GO:0035988 9.16 COMP CCN2
4 T cell costimulation GO:0031295 8.8 ICOSLG ICOS CAV1

Molecular functions related to Diffuse Cutaneous Systemic Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 THBS1 STAT4 MIF IRF5 ICOSLG FBN1
2 heparin binding GO:0008201 9.46 THBS1 FBN1 COMP CCN2
3 proteoglycan binding GO:0043394 9.32 THBS1 COMP
4 integrin binding GO:0005178 9.26 THBS1 FBN1 COMP CCN2
5 extracellular matrix structural constituent GO:0005201 8.92 THBS1 FBN1 COMP COL22A1

Sources for Diffuse Cutaneous Systemic Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....