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MCID: SCL052
MIFTS: 64

Scleroderma, Familial Progressive

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

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MalaCards integrated aliases for Scleroderma, Familial Progressive:

Name: Scleroderma, Familial Progressive 57
Systemic Sclerosis 57 76 59 37
Systemic Scleroderma 59 73
Crest Syndrome 59 73
Calcinosis-Raynaud Phenomenon-Esophageal Involvement-Sclerodactyly-Telangiectasia Syndrome 59
Systemic Sclerosis, Susceptibility to 57
Sclerosis Systemic 55

Characteristics:

Orphanet epidemiological data:

59
crest syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/100000 (Taiwan, Province of China); Age of onset: Adult; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
scleroderma, familial progressive:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Nephrological diseases Respiratory diseases Bone diseases Skin diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Orphanet: 59  
Rare neurological diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases


Sources

Summaries for Scleroderma, Familial Progressive

About this section
OMIM : 57 Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. (181750)

MalaCards based summary : Scleroderma, Familial Progressive, also known as systemic sclerosis, is related to diffuse cutaneous systemic sclerosis and limited scleroderma, and has symptoms including exanthema, pruritus and hidebound skin. An important gene associated with Scleroderma, Familial Progressive is CTGF (Connective Tissue Growth Factor), and among its related pathways/superpathways are Phospholipase-C Pathway and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Bosentan and Silver sulfadiazine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and endothelial, and related phenotypes are joint dislocation and seizures

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

Sources

Related Diseases for Scleroderma, Familial Progressive

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Diseases in the Systemic Scleroderma family:

Scleroderma, Familial Progressive Localized Scleroderma

Diseases related to Scleroderma, Familial Progressive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 34.3 CTGF FBN1
2 limited scleroderma 33.9 CTGF TOP1
3 systemic scleroderma 31.5 CTGF EDN1 FBN1 TOP1
4 pulmonary systemic sclerosis 12.1
5 crest syndrome 11.1
6 cholecystolithiasis 10.6 BMP6 CTGF
7 raynaud disease 10.5 EDN1 TOP1
8 diffuse scleroderma 10.5 EDN1 TOP1
9 nontuberculous mycobacterial lung disease 10.5 BMP6 FBN1
10 aortic coarctation 10.4 EDN1 FBN1
11 ehlers-danlos syndrome, hypermobility type 10.4 COL1A1 FBN1
12 hypertrophic scars 10.4 BMP6 CD36
13 nephrogenic systemic fibrosis 10.3 CTGF EDN1
14 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
15 idiopathic hypercalciuria 10.2 BMP6 EDN1
16 high bone mass osteogenesis imperfecta 10.2 COL1A1 COL1A2
17 larsen-like syndrome 10.2 COL1A1 COL1A2
18 osteogenesis imperfecta, type viii 10.2 COL1A1 COL1A2
19 renal fibrosis 10.2 BMP6 CD36 CTGF
20 ocular cicatricial pemphigoid 10.1 CD36 CTGF
21 microvascular complications of diabetes 3 10.1 BMP6 CTGF
22 stiff skin syndrome 10.1 COL1A2 CTGF FBN1
23 ehlers-danlos syndrome, classic type 10.0 COL1A1 COL1A2
24 marfan syndrome 10.0 BMP6 COL1A2 FBN1
25 tetralogy of fallot 9.9 COL1A1 EDN1 FBN1
26 dentinogenesis imperfecta 9.9 COL1A1 COL1A2
27 osteogenesis imperfecta, type vii 9.8 CD36 COL1A1 COL1A2
28 caffey disease 9.8 CD36 COL1A1 COL1A2
29 ehlers-danlos syndrome, classic type, 1 9.8 CD36 COL1A1 COL1A2
30 osteogenesis imperfecta, type v 9.8 CD36 COL1A1 COL1A2
31 osteogenesis imperfecta, type iv 9.8 CD36 COL1A1 COL1A2
32 pulmonary fibrosis, idiopathic 9.8 BMP6 CD36 CTGF EDN1
33 bruck syndrome 9.8 CD36 COL1A1 COL1A2
34 osteogenesis imperfecta, type ii 9.8 CD36 COL1A1 COL1A2
35 osteogenesis imperfecta, type iii 9.7 CD36 COL1A1 COL1A2
36 osteogenesis imperfecta, type i 9.7 CD36 COL1A1 COL1A2
37 brittle bone disorder 9.7 CD36 COL1A1 COL1A2
38 scoliosis 9.7 COL1A1 COL1A2 FBN1
39 otosclerosis 9.7 CD36 COL1A1 COL1A2
40 spondyloepiphyseal dysplasia congenita 9.4 COL1A1 COL1A2
41 collagen disease 8.7 COL1A1 COL1A2 CTGF EDN1 FBN1 TOP1
42 connective tissue disease 8.5 COL1A1 COL1A2 EDN1 FBN1 RNPC3 TOP1

Graphical network of the top 20 diseases related to Scleroderma, Familial Progressive:



Diseases related to Scleroderma, Familial Progressive
Sources

Symptoms & Phenotypes for Scleroderma, Familial Progressive

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Symptoms via clinical synopsis from OMIM:

57
Skin:
telangiectasia
sclerodactyly
calcinosis
progressive systemic scleroderma
raynaud syndrome

Immunology:
anticentromere and other antibodies

GI:
esophageal aperistalsis

Lab:
increased chromosomal breakage rate


Clinical features from OMIM:

181750

Human phenotypes related to Scleroderma, Familial Progressive:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002017
4 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
5 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
6 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
7 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
8 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
9 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
10 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
11 pulmonary fibrosis 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002206
12 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
13 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
14 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
15 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
16 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002092
17 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
18 edema 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000969
19 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
20 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100679
21 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
22 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002960
23 skin ulcer 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200042
24 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
25 gastroparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002578
26 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
27 cachexia 59 32 frequent (33%) Frequent (79-30%) HP:0004326
28 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
29 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0100585
30 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
31 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
32 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
33 hypertensive crisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100735
34 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
35 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
36 pericarditis 59 32 frequent (33%) Frequent (79-30%) HP:0001701
37 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
38 abnormality of the gastric mucosa 59 32 hallmark (90%) Very frequent (99-80%) HP:0004295
39 erectile abnormalities 59 32 occasional (7.5%) Occasional (29-5%) HP:0100639
40 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
41 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
42 chondrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000934
43 myositis 59 32 frequent (33%) Frequent (79-30%) HP:0100614
44 gangrene 59 32 frequent (33%) Frequent (79-30%) HP:0100758
45 tendon rupture 59 32 occasional (7.5%) Occasional (29-5%) HP:0100550
46 pulmonary infiltrates 59 32 frequent (33%) Frequent (79-30%) HP:0002113
47 myocardial fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001685
48 sclerodactyly 59 32 Very frequent (99-80%) HP:0011838
49 calcinosis 59 32 Very frequent (99-80%) HP:0003761
50 tetralogy of fallot with atrioventricular canal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0011677

UMLS symptoms related to Scleroderma, Familial Progressive:


exanthema, pruritus, hidebound skin

MGI Mouse Phenotypes related to Scleroderma, Familial Progressive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 AIF1 CD36 COL1A1 COL1A2 CTGF EDN1
2 skeleton MP:0005390 9.23 EDN1 FBN1 AIF1 BMP6 CD36 COL1A1
Sources

Drugs & Therapeutics for Scleroderma, Familial Progressive

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Drugs for Scleroderma, Familial Progressive (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 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Vaccines Phase 4,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
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Early Phase 1 83-43-2 6741
30
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 3,Early Phase 1 50-24-8 5755
31
rituximab Approved Phase 2, Phase 3,Phase 3 174722-31-7 10201696
32
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
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
Alginic acid Approved, Investigational Phase 3 9005-32-7
38
Domperidone Approved, Investigational, Vet_approved Phase 3 57808-66-9 3151
39
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
40
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
41
Lactulose Approved Phase 3 4618-18-2 11333
42
Methocarbamol Approved, Vet_approved Phase 3,Phase 2 532-03-6 4107
43
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
44
Mesna Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 3375-50-6 598
45
Acetylcholine Approved Phase 3,Phase 2,Not Applicable 51-84-3 187
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 The Clinical And Subclinical Effects on Arterial Stiffness of Bosentan in Patients With Systemic Sclerosis Unknown status NCT02480335 Phase 4 bosentan
2 Influenza Vaccination in Patients With Scleroderma Unknown status NCT01002508 Phase 4
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 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
10 Efficacy and Safety of PLACENTEX ® i.m. in Patients With Scleroderma Diseases Recruiting NCT03388255 Phase 4 Polydeoxyribonucleotides
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 Serial Night Time Position Splint on Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
18 High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis Unknown status NCT00428883 Phase 2, Phase 3 N-acetylcysteine (NAC)
19 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 Macitentan for the Treatment of Digital Ulcers in Systemic Sclerosis Patients Completed NCT01474109 Phase 3 macitentan 3mg;macitentan 10mg;placebo
23 Rituximab in Systemic Sclerosis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
24 Efficacy and Safety Study of GB-0998 for Treatment of Systemic Sclerosis Completed NCT00348296 Phase 3 High-dose intravenous immunoglobulin (Venoglobulin-IH)
25 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3 IV Cyclophosphamide
26 Gastroesophageal Reflux Treatment in Scleroderma Completed NCT01878526 Phase 3 Alginic acid;placebo (for domperidone);Domperidone;placebo (of alginic acid)
27 Effect of Rosuvastatin on Systemic Sclerosis-related Pulmonary Hypertension Completed NCT00984932 Phase 3 Rosuvastatin
28 Sildenafil Effect on Digital Ulcer Healing in sClerodErma SEDUCE STUDY Completed NCT01295736 Phase 3 Sildenafil;placebo
29 Study to Compare the Efficacy of Mycophenolate Mofetil in Systemic Sclerosis Related Early Interstitial Lung Disease Completed NCT02896205 Phase 3 Mycophenolate mofetil;Placebo
30 Effect of Sildenafil on the Microcirculatory Blood Flow and Endothelial Progenitor Cells in Systemic Sclerosis Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
31 Recombinant Human Relaxin in the Treatment of Diffuse Scleroderma Completed NCT00704665 Phase 3 Relaxin;Relaxin
32 Effectiveness and Safety of Lidocaine for Scleroderma Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
33 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
34 A Study of RoActemra/Actemra (Tocilizumab) Versus Placebo in Patients With Systemic Sclerosis Completed NCT01532869 Phase 3 Placebo;tocilizumab [RoActemra/Actemra];tocilizumab [RoActemra/Actemra]
35 Scleroderma: Cyclophosphamide or Transplantation (SCOT) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
36 Efficacy and Safety of Oral Bosentan in Pulmonary Fibrosis Associated With Scleroderma Completed NCT00070590 Phase 2, Phase 3 Bosentan
37 Bosentan in Digital Ulcers Completed NCT00319696 Phase 3 bosentan
38 Efficacy of Botulinum Toxin In Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
39 Scleroderma Lung Disease Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
40 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
41 A Trial of Tadalafil in Interstitial Lung Disease of Scleroderma Completed NCT01553981 Phase 3 Tadalafil;Placebo
42 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT01117298 Phase 3 Tadalafil;Placebo
43 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
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 Scleroderma, Familial Progressive

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

Genetic Tests for Scleroderma, Familial Progressive

About this section
Sources

Anatomical Context for Scleroderma, Familial Progressive

About this section

MalaCards organs/tissues related to Scleroderma, Familial Progressive:

41
Skin, Lung, Endothelial, Heart, T Cells, Kidney, Bone
Sources

Publications for Scleroderma, Familial Progressive

About this section

Articles related to Scleroderma, Familial Progressive:

(show top 50) (show all 1790)
# Title Authors Year
1
Patient acceptable symptom state in scleroderma: results from the tocilizumab compared with placebo trial in active diffuse cutaneous systemic sclerosis. ( 29077900 )
2018
2
Right Ventricular Myofilament Functional Differences in Humans with Systemic Sclerosis-associated versus Idiopathic Pulmonary Arterial Hypertension. ( 29352073 )
2018
3
Calcinosis cutis universalis in systemic sclerosis. ( 29451139 )
2018
4
Systemic sclerosis associated interstitial lung disease - individualized immunosuppressive therapy and course of lung function: results of the EUSTAR group. ( 29382380 )
2018
5
Lymphedema secondary to limited cutaneous systemic sclerosis. ( 29909388 )
2018
6
Erasmus syndrome: systemic sclerosis and silicosis co-occurrence. ( 29667340 )
2018
7
Pain threshold and temporomandibular function in systemic sclerosis: comparison with psoriatic arthritis. ( 29445986 )
2018
8
Systemic sclerosis and sarcoidosis: a rare case of chronic intestinal pseudo-obstruction. ( 29699402 )
2018
9
The Four Corners Sign: A Specific Imaging Feature in Differentiating Systemic Sclerosis-related Interstitial Lung Disease From Idiopathic Pulmonary Fibrosis. ( 29346191 )
2018
10
Crusted Scabies in Systemic Sclerosis with Plasma Cell Dyscrasia. ( 29854644 )
2018
11
Disability, fatigue, pain and their associates in early diffuse cutaneous systemic sclerosis: the European Scleroderma Observational Study. ( 29207002 )
2018
12
Expression of TLR7, TLR9, JAK2, and STAT3 genes in peripheral blood mononuclear cells from patients with systemic sclerosis. ( 29147913 )
2018
13
Hand functions in systemic sclerosis and rheumatoid arthritis and influence on clinical variables. ( 28322506 )
2018
14
KL-6 But Not CCL-18 Is a Predictor of Early Progression in Systemic Sclerosis-related Interstitial Lung Disease. ( 29961690 )
2018
15
Erasmus Syndrome: Association of Silicosis and Systemic Sclerosis. ( 29854640 )
2018
16
Radiological pleuroparenchymal fibroelastosis associated to limited cutaneous systemic sclerosis: a case report. ( 29776440 )
2018
17
Symptoms of Autonomic Dysfunction in Systemic Sclerosis Assessed by the COMPASS-31 Questionnaire. ( 29907667 )
2018
18
Ulnar Neuropathy in a Patient with Systemic Sclerosis. ( 29079402 )
2018
19
Ischaemic ulcers on the toes secondary to Raynaud phenomenon in a patient with systemic sclerosis successfully treated with botulinum toxin. ( 29274125 )
2018
20
Systemic sclerosis: severe pulmonary arterial hypertension and pericardial effusion at diagnosis. ( 29764826 )
2018
21
Refractory Hepatic Hydrothorax: A Rare Complication of Systemic Sclerosis and Presinusoidal Portal Hypertension. ( 29854501 )
2018
22
Bladder Malakoplakia in Systemic Sclerosis Patient: A Case Report and Review Literature. ( 29967807 )
2018
23
Nodular Regenerative Hyperplasia of the Liver: A Rare Vascular Complication in Systemic Sclerosis. ( 29093156 )
2018
24
Effects of autonomic dysfunction on exercise tolerance in systemic sclerosis patients without clinical and instrumental evidence of cardiac and pulmonary involvement. ( 29745872 )
2018
25
Blue toe syndrome as a first sign of systemic sclerosis. ( 29305361 )
2018
26
Screening High Resolution Computed Tomography of the Chest to Detect Interstitial Lung Disease in Systemic Sclerosis: A Global Survey of Rheumatologists. ( 29426066 )
2018
27
Olfactory function in systemic lupus erythematosus and systemic sclerosis. A longitudinal study and review of the literature. ( 29444467 )
2018
28
Sirtuin1 Protects against Systemic Sclerosis-related Pulmonary Fibrosis by Decreasing Proinflammatory and Profibrotic Processes. ( 28800254 )
2018
29
Evaluation of Vitamin B12 Deficiency and Associated Factors in Patients With Systemic Sclerosis. ( 29384828 )
2018
30
From Localized Scleroderma to Systemic Sclerosis: Coexistence or Possible Evolution. ( 29666638 )
2018
31
Prospective evaluation of frequency of genital lichen sclerosus in 79 patients with systemic sclerosis. ( 29928761 )
2018
32
Factors influencing early referral, early diagnosis and management in patients with diffuse cutaneous systemic sclerosis. ( 29415230 )
2018
33
Cutaneous angiosarcoma in a patient with systemic sclerosis: First case from India. ( 29376512 )
2018
34
Skin Gene Expression Is Prognostic for the Trajectory of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis. ( 29858547 )
2018
35
Efficacy and safety of combination therapy with prednisolone and oral tacrolimus for progressive interstitial pneumonia with systemic sclerosis: a retrospective study. ( 29442534 )
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Surgical management of gastroesophageal reflux disease in patients with systemic sclerosis. ( 29435755 )
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37
Double-blind, Randomized, 8-week Placebo-controlled followed by a 16-week open label extension study, with the LPA1 receptor antagonist SAR100842 for Patients With Diffuse Cutaneous Systemic Sclerosis. ( 29732731 )
2018
38
Calcific prepatellar bursitis in a patient with limited cutaneous systemic sclerosis. ( 29228498 )
2017
39
UVA1 for diffuse cutaneous systemic sclerosis in a Fitzpatrick skin type VI patient: outcomes in the modified Rodnan skin score. ( 28375193 )
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A systematic review of overlapping microRNA patterns in systemic sclerosis and idiopathic pulmonary fibrosis. ( 28515040 )
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41
Central nervous system vasculitis presenting as an ischaemic stroke in a young woman with systemic sclerosis. ( 28977489 )
2017
42
Analysis of killer cell immunoglobulin-like receptors (KIRs) and their HLA ligand genes polymorphisms in Iranian patients with systemic sclerosis. ( 28120169 )
2017
43
Very Early Systemic Sclerosis and Pre-systemic Sclerosis: Definition, Recognition, Clinical Relevance and Future Directions. ( 28921059 )
2017
44
A case of systemic sclerosis with linear scleroderma developing after fracture surgery. ( 28251893 )
2017
45
Differences in Right Ventricular Functional Changes during Treatment between Systemic Sclerosis-associated Pulmonary Arterial Hypertension and Idiopathic Pulmonary Arterial Hypertension. ( 28282243 )
2017
46
Rituximab Experience in Patients With Long-standing Systemic Sclerosis-Associated Interstitial Lung Disease: A Series of 14 Patients. ( 28926468 )
2017
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Low serum fibroblast growth factor 2 levels not accompanied by increased serum pentraxin 3 levels in patients with systemic sclerosis. ( 27878407 )
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48
Reply to: Moyamoya disease and systemic sclerosis (MoSys syndrome): a combination of two rare entities: comment to the authors. ( 28516875 )
2017
49
Extensive Dystrophic Calcinosis Cutis: A Severe Complication of Polymyositis/Systemic Sclerosis Overlap Syndrome. ( 28926465 )
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Radiographic fibrosis score predicts survival in systemic sclerosis-associated interstitial lung disease. ( 28925574 )
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Sources

Variations for Scleroderma, Familial Progressive

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Copy number variations for Scleroderma, Familial Progressive from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 107132 17 1225928 31649829 Copy number CCL3L3 Sclerosis systemic
2 107142 17 1225928 31649843 Copy number CCL3L1 Sclerosis systemic
3 107162 17 1242109 31665953 Copy number CCL4L2 Sclerosis systemic
4 110231 17 31562580 31665959 Copy number CCL4L1 Sclerosis systemic
5 209408 6 2614953 31491069 Copy number MICA Sclerosis systemic
6 211359 6 32593131 32665540 Copy number HLA-DRB5 Sclerosis systemic
7 212284 6 3674895 32665540 Copy number HLA-DRB1 Sclerosis systemic
8 212430 6 3795995 32719407 Copy number HLA-DQA1 Sclerosis systemic
9 212451 6 3813334 32742444 Copy number HLA-DQB1 Sclerosis systemic
Sources

Expression for Scleroderma, Familial Progressive

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Search GEO for disease gene expression data for Scleroderma, Familial Progressive.
Sources

Pathways for Scleroderma, Familial Progressive

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Pathways related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.55 BMP6 COL1A1 COL1A2 CTGF FBN1
2
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.51 CD36 COL1A1 COL1A2
3
AGE-RAGE signaling pathway in diabetic complications 37
11.33 COL1A1 COL1A2 EDN1
4
ECM-receptor interaction 37
Show member pathways
 11.1 CD36 COL1A1 COL1A2 FBN1
5
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.08 COL1A1 COL1A2
6
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.05 COL1A1 COL1A2
7
Inflammatory Response Pathway 1
10.95 COL1A1 COL1A2
8
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
10.84 CD36 COL1A1 COL1A2
9
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.8 CTGF FBN1
10
VEGFR3 signaling in lymphatic endothelium 1
10.73 COL1A1 COL1A2
Sources

GO Terms for Scleroderma, Familial Progressive

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Cellular components related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 BMP6 CD36 COL1A1 COL1A2 CTGF EDN1
2 extracellular matrix GO:0031012 9.43 COL1A1 COL1A2 FBN1
3 collagen trimer GO:0005581 9.33 CD36 COL1A1 COL1A2
4 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.76 BMP6 CTGF EDN1 FBN1
2 negative regulation of gene expression GO:0010629 9.72 AIF1 CD36 CTGF
3 positive regulation of cell migration GO:0030335 9.7 AIF1 COL1A1 EDN1
4 extracellular matrix organization GO:0030198 9.69 COL1A1 COL1A2 FBN1
5 blood coagulation GO:0007596 9.67 CD36 COL1A1 COL1A2
6 collagen fibril organization GO:0030199 9.57 COL1A1 COL1A2
7 response to activity GO:0014823 9.56 BMP6 EDN1
8 response to amino acid GO:0043200 9.54 CTGF EDN1
9 ossification GO:0001503 9.54 BMP6 COL1A1 CTGF
10 endochondral ossification GO:0001958 9.48 BMP6 COL1A1
11 response to fatty acid GO:0070542 9.43 CD36 CTGF
12 protein heterotrimerization GO:0070208 9.4 COL1A1 COL1A2
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.33 COL1A1 EDN1 FBN1
14 skin morphogenesis GO:0043589 9.32 COL1A1 COL1A2
15 cellular response to hydroperoxide GO:0071447 9.26 AIF1 CD36
16 positive regulation of nitric oxide biosynthetic process GO:0045429 9.13 AIF1 CD36 EDN1
17 skeletal system development GO:0001501 9.02 BMP6 COL1A1 COL1A2 EDN1 FBN1

Molecular functions related to Scleroderma, Familial Progressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 8.8 COL1A1 COL1A2 FBN1
Sources

Sources for Scleroderma, Familial Progressive

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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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