MCID: SCL052
MIFTS: 61

Scleroderma, Familial Progressive

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Muscle diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Scleroderma, Familial Progressive

MalaCards integrated aliases for Scleroderma, Familial Progressive:

Name: Scleroderma, Familial Progressive 57
Systemic Sclerosis 57 74 58 36 32
Systemic Scleroderma 58 71
Systemic Sclerosis, Susceptibility to 57
Sclerosis Systemic 54
Crest Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant form


HPO:

31
scleroderma, familial progressive:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Scleroderma, Familial Progressive

KEGG : 36 Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features, disease course and overall severity. At present, there is no treatment that has been proven to modify the overall disease course, but therapy that targets specific organ involvement early before irreversible damage occurs does improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to specific environmental agents.

MalaCards based summary : Scleroderma, Familial Progressive, also known as systemic sclerosis, is related to limited scleroderma and raynaud phenomenon, and has symptoms including pruritus, exanthema and hidebound skin. An important gene associated with Scleroderma, Familial Progressive is CCN2 (Cellular Communication Network Factor 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Sodium citrate and Bosentan have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and endothelial, and related phenotypes are arthralgia and myalgia

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) (Updated 05-Mar-2021)

Wikipedia : 74 Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by... more...

Related Diseases for Scleroderma, Familial Progressive

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 top 50) (show all 1022)
# Related Disease Score Top Affiliating Genes
1 limited scleroderma 32.2 TOP1 FBL EDN1 CENPB CCN2
2 raynaud phenomenon 32.0 EDN1 CENPB
3 crest syndrome 31.9 TOP1 FBL CENPB
4 pulmonary fibrosis 31.1 EDN1 COL1A1 CCN2 BMP6
5 localized scleroderma 30.9 COL1A1 CCN2 BMP6
6 tricuspid valve insufficiency 30.8 FBN1 EDN1
7 raynaud disease 30.7 TOP1 EDN1 CENPB
8 telangiectasis 30.7 TOP1 FBN1 FBL CENPB BMP6
9 systemic scleroderma 30.4 TOP1 FBN1 FBL EDN1 COL1A2 CENPB
10 nephrogenic systemic fibrosis 30.4 EDN1 CCN2
11 diffuse scleroderma 30.4 TOP1 FBL EDN1 COL1A2 COL1A1 CENPB
12 keloid disorder 30.2 CD36 BMP6
13 dyskinesia of esophagus 30.2 TOP1 FBL CENPB
14 portal hypertension 30.2 EDN1 COL1A1 CCN2
15 collagen disease 30.1 FBN1 COL1A2 COL1A1
16 pulmonary fibrosis, idiopathic 29.7 EDN1 COL1A2 COL1A1 CCN2 BMP6
17 pulmonary valve insufficiency 29.7 FBN1 EDN1
18 stiff skin syndrome 29.5 FBN1 COL1A2 CCN2
19 intraocular pressure quantitative trait locus 29.5 FBN1 EDN1 CCN2
20 renal fibrosis 29.4 CD36 CCN2 BMP6
21 hypertrophic scars 29.4 FBN1 CD36 BMP6
22 orthostatic intolerance 29.3 FBN1 EDN1 COL1A2
23 spinal stenosis 29.2 COL1A2 COL1A1
24 pelvic organ prolapse 29.1 FBN1 COL1A2 COL1A1 CD36
25 connective tissue disease 28.9 TOP1 FBN1 FBL EDN1 COL1A2 COL1A1
26 osteoporosis 28.8 EDN1 COL1A2 COL1A1 CD36 BMP6
27 hypertrophic cardiomyopathy 28.8 EDN1 COL1A2 COL1A1 CD36
28 marfan syndrome 28.6 FBN1 COL1A2 COL1A1 CD36 BMP6
29 diffuse cutaneous systemic sclerosis 11.7
30 pulmonary systemic sclerosis 11.4
31 reynolds syndrome 11.2
32 interstitial lung disease 11.2
33 lung disease 11.2
34 adrenoleukodystrophy 11.1
35 pulmonary hypertension, primary, 1 11.1
36 mixed connective tissue disease 11.1
37 gastric antral vascular ectasia 11.1
38 autoimmune disease 11.0
39 eosinophilic fasciitis 11.0
40 pulmonary hypertension 11.0
41 hemolytic uremic syndrome, atypical 1 11.0
42 telangiectasia, hereditary hemorrhagic, type 4 11.0
43 calcinosis 10.9
44 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.9
45 fibrosis of extraocular muscles, congenital, 1 10.9
46 vascular disease 10.8
47 lupus erythematosus 10.8
48 systemic lupus erythematosus 10.8
49 enthesopathy 10.8
50 dysphagia 10.7

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



Diseases related to Scleroderma, Familial Progressive

Symptoms & Phenotypes for Scleroderma, Familial Progressive

Human phenotypes related to Scleroderma, Familial Progressive:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
3 raynaud phenomenon 58 31 hallmark (90%) Very frequent (99-80%) HP:0030880
4 cutaneous sclerotic plaque 58 31 hallmark (90%) Very frequent (99-80%) HP:0031359
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
7 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
8 irregular hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007400
9 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
10 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
11 sclerodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0011838
12 spotty hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0005590
13 finger swelling 58 31 frequent (33%) Frequent (79-30%) HP:0025131
14 calcinosis cutis 58 31 frequent (33%) Frequent (79-30%) HP:0025520
15 acral ulceration 58 31 frequent (33%) Frequent (79-30%) HP:0006121
16 abnormal phalangeal joint morphology of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0006261
17 digital pitting scar 58 31 frequent (33%) Frequent (79-30%) HP:0031293
18 nail bed telangiectasia 58 31 frequent (33%) Frequent (79-30%) HP:0001232
19 anti-topoisomerase i antibody positivity 31 frequent (33%) HP:0030859
20 anti-centromere antibody positivity 31 frequent (33%) HP:0030873
21 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
22 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
23 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
24 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
25 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
26 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
27 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
28 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
29 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
30 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
31 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
32 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
33 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
34 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
35 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
36 intestinal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0002584
37 constrictive median neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012185
38 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0012622
39 gastroparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002578
40 abnormal large intestine morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002250
41 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
42 recurrent skin infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0001581
43 barrett esophagus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100580
44 glomerulonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000099
45 abnormality of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002244
46 osteolytic defects of the phalanges of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0009771
47 right ventricular failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001708
48 albuminuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012592
49 interstitial cardiac fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031329
50 gastrointestinal telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002604

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin:
telangiectasia
sclerodactyly
calcinosis
progressive systemic scleroderma
raynaud syndrome

Immunology:
anticentromere and other antibodies

G I:
esophageal aperistalsis

Lab:
increased chromosomal breakage rate

Clinical features from OMIM®:

181750 (Updated 05-Mar-2021)

UMLS symptoms related to Scleroderma, Familial Progressive:


pruritus, exanthema, hidebound skin

MGI Mouse Phenotypes related to Scleroderma, Familial Progressive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 AIF1 CCN2 CD36 COL1A1 COL1A2 EDN1
2 mortality/aging MP:0010768 9.61 CCN2 CD36 CENPB COL1A1 COL1A2 EDN1
3 skeleton MP:0005390 9.23 AIF1 BMP6 CCN2 CD36 COL1A1 COL1A2

Drugs & Therapeutics for Scleroderma, Familial Progressive

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

(show top 50) (show all 247)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
3
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
4
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
5
Metronidazole Approved Phase 4 443-48-1 4173
6
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
7
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
8
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
10 Phosphodiesterase Inhibitors Phase 4
11 Vasodilator Agents Phase 4
12 Sildenafil Citrate Phase 4 171599-83-0
13 Citrate Phase 4
14 Anti-Infective Agents Phase 4
15 Anti-Bacterial Agents Phase 4
16 Antihypertensive Agents Phase 4
17 Endothelin Receptor Antagonists Phase 4
18 Phosphodiesterase 5 Inhibitors Phase 4
19 Anesthetics Phase 4
20 Anesthetics, Local Phase 4
21 Antiprotozoal Agents Phase 4
22 Antiparasitic Agents Phase 4
23 Platelet Aggregation Inhibitors Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Anti-Inflammatory Agents, Non-Steroidal Phase 4
26 Analgesics Phase 4
27 Antipyretics Phase 4
28 Fibrinolytic Agents Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30
Iloprost Approved, Investigational Phase 2, Phase 3 78919-13-8 6443959
31
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
32
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
33
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
34
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
35
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
36
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
37
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
38
Lactulose Approved Phase 3 4618-18-2 11333
39
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
40
Prilocaine Approved Phase 3 721-50-6 4906
41
Mycophenolic acid Approved Phase 3 24280-93-1 446541
42
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
43 Brodalumab Approved, Investigational Phase 3 1174395-19-7
44
Nintedanib Approved Phase 3 656247-17-5 56843413
45
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
46
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
47
Macitentan Approved Phase 3 441798-33-0
48
Mesna Approved, Investigational Phase 2, Phase 3 3375-50-6 598
49
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
50
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1

Interventional clinical trials:

(show top 50) (show all 303)
# Name Status NCT ID Phase Drugs
1 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
2 Intérêt du TFP (Transversalis Fascia Plane) Bloc échoguidé Pour l'analgésie du prélèvement Osseux de crête Iliaque Completed NCT02398474 Phase 4 TFP block ropivacaine;ropivacaine infiltration of the iliac crest bone
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 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
5 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
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 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
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 Prospective Study of the Utility of Intraoperative, Quantitative Indocyanine Green Angiography in Microvascular Surgery for Systemic Scerlosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
10 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
11 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
12 Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
13 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
14 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)
15 Long-term Bosentan Open Label Extension of the AC-052-331 Study in Systemic Sclerosis Patients With Ischemic Digital Ulcers Completed NCT00319696 Phase 3 Bosentan 62.5 mg;Bosentan 125 mg
16 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
17 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)
18 Phase III Laboratory Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, in the Treatment of Raynaud's Phenomenon Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin
19 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
20 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
21 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
22 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]
23 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
24 Evaluation of Rituximab in Systemic Sclerosis Associated Polyarthritis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
25 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
26 Intravenous Cyclophosphamide for the Treatment of Systemic Sclerosis Associated Interstitial Lung Disease Completed NCT01570764 Phase 3 Cyclophosphamide;Placebo
27 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
28 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
29 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
30 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)
31 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
32 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)
33 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
34 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
35 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
36 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
37 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
38 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
39 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
40 Upfront Autologous Hematopoietic Stem Cell Transplantation Versus Immunosuppressive Medication in Early Diffuse Cutaneous Systemic Sclerosis: an International Multicentre, Open-label, Randomized Con-trolled Trial Recruiting NCT04464434 Phase 3
41 A Phase 3, Placebo-controlled, Double-blind Comparative Study of KHK4827 With an Open-label Extension Period in Subjects With Systemic Sclerosis Who Have Moderate to Severe Skin Thickening Active, not recruiting NCT03957681 Phase 3 KHK4827;Placebo
42 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
43 An Open-label Extension Trial of the Long Term Safety of Nintedanib in Patients With 'Systemic Sclerosis Associated Interstitial Lung Disease' (SSc-ILD) Active, not recruiting NCT03313180 Phase 3 Nintedanib
44 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 Terminated NCT01474122 Phase 3 Macitentan 3 mg;Macitentan 10 mg;Placebo
45 Chemical Sympathectomy Following Peripheral Nerve Block With Liposomal Bupivacaine Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
46 Autologous Hematopoietic Stem Cell Transplant for Patients With Systemic Sclerosis and Cardiac Dysfunction Terminated NCT03593902 Phase 2, Phase 3 Rituximab;Fludarabine;Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF
47 Randomized Study of Different Non-myeloablative Conditioning Regimens With Hematopoietic Stem Cell Support in Patients With Scleroderma (Autologous Systemic Sclerosis Immune Suppression Trial - II ASSIST-IIb) Terminated NCT01445821 Phase 3 Cyclophosphamide;Mesna;rATG;Methylprednisolone;Filgrastim;Fludarabine
48 Mesenchymal Stromal Cells for Angiogenesis and Neovascularisation in Digital Ulcers of Systemic Sclerosis: the MANUS Trial Unknown status NCT03211793 Phase 1, Phase 2 Mesenchymal stromal cells
49 Safety and Efficacy Study of Pl-vegf165 to Treat Secondary Raynaud's Phenomenon Caused by Systemic Scleroderma Unknown status NCT02356809 Phase 1, Phase 2 Neovasculgen
50 Low-Dose Oral Imatinib in the Treatment of Scleroderma Pulmonary Involvement: A Phase II Pilot Study Unknown status NCT00573326 Phase 2 Imatinib

Search NIH Clinical Center for Scleroderma, Familial Progressive

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


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

Genetic Tests for Scleroderma, Familial Progressive

Anatomical Context for Scleroderma, Familial Progressive

MalaCards organs/tissues related to Scleroderma, Familial Progressive:

40
Skin, Lung, Endothelial, Heart, T Cells, Bone, Kidney

Publications for Scleroderma, Familial Progressive

Articles related to Scleroderma, Familial Progressive:

(show top 50) (show all 15356)
# Title Authors PMID Year
1
A polymorphism in the CTGF promoter region associated with systemic sclerosis. 61 54 57
17881752 2007
2
Examination of the possible role of biologically relevant genes around FBN1 in systemic sclerosis in the Choctaw population. 54 61 57
14613297 2003
3
Monocyte chemoattractant protein 3 as a mediator of fibrosis: Overexpression in systemic sclerosis and the type 1 tight-skin mouse. 57 54 61
12847692 2003
4
Overexpression of monocyte chemoattractant protein 1 in systemic sclerosis: role of platelet-derived growth factor and effects on monocyte chemotaxis and collagen synthesis. 54 61 57
11710722 2001
5
Chemokine expression by systemic sclerosis fibroblasts: abnormal regulation of monocyte chemoattractant protein 1 expression. 54 57 61
11407698 2001
6
Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations. 54 61 57
11315929 2001
7
Autoantibodies to fibrillin 1 in systemic sclerosis: ethnic differences in antigen recognition and lack of correlation with specific clinical features or HLA alleles. 57 54 61
11083269 2000
8
Self reactive repertoire of tight skin mouse: immunochemical and molecular characterization of anti-topoisomerase I autoantibodies. 61 54 57
1718459 1991
9
Proteome-wide analysis and CXCL4 as a biomarker in systemic sclerosis. 57 61
24350901 2014
10
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. 57 61
19286670 2009
11
Stimulatory autoantibodies to the PDGF receptor in systemic sclerosis. 61 57
16790699 2006
12
X chromosome monosomy: a common mechanism for autoimmune diseases. 61 57
15972694 2005
13
Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence. 61 57
13130478 2003
14
Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma). 57 61
11508439 2001
15
Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. 61 57
10395706 1999
16
Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. 57 61
9778214 1998
17
Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes. 57 61
3198128 1988
18
Three siblings with scleroderma (systemic sclerosis) and two with Raynaud's phenomenon from a single kindred. 61 57
6972218 1981
19
The CREST syndrome: a distinct serologic entity with anticentromere antibodies. 57 61
6968511 1980
20
Diversity of antinuclear antibodies in progressive systemic sclerosis. Anti-centromere antibody and its relationship to CREST syndrome. 57 61
6155920 1980
21
The 'CREST' syndrome. Comparison with systemic sclerosis (scleroderma). 61 57
508020 1979
22
Association of the autoimmune disease scleroderma with an immunologic response to cancer. 57
24310608 2014
23
The downregulation of microRNA let-7a contributes to the excessive expression of type I collagen in systemic and localized scleroderma. 57
23509348 2013
24
Scleroderma. 57
19420368 2009
25
Autoantibodies against PDGF receptor in scleroderma. 57
16790706 2006
26
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. 57
8723723 1996
27
Molecular characterization of J558 genes encoding tight-skin mouse autoantibodies: identical heavy-chain variable genes code for antibodies with different specificities. 57
8058758 1994
28
Tight-skin (Tsk) maps on mouse chromosome 2 within the region of linkage homology with human chromosome 15. 57
7959775 1994
29
Familial CREST syndrome. 57
8035406 1994
30
Centromeric association of a microchromosome. A new category of non-random arrangement of metaphase chromosomes. 57
2912883 1989
31
Genetic susceptibility to scleroderma-like syndrome induced by vinyl chloride. 57
6129382 1983
32
Autoantibody to centromere (kinetochore) in scleroderma sera. 57
6966403 1980
33
Familial CRST syndrome with sicca complex. 57
886553 1977
34
Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton. 57
176891 1976
35
Familial progressive systemic scleroderma. 57
1119827 1975
36
APERISTALSIS OF THE ESOPHAGUS IN PATIENTS WITH CONNECTIVE-TISSUE DISORDERS AND RAYNAUD'S PHENOMENON. 57
14132824 1964
37
MULTIPLE TELANGIECTASIA, RAYNAUD'S PHENOMENON, SCLERODACTYLY, AND SUBCUTANIOUS CALCINOSIS: A SYNDROME MIMICKING HEREDITARY HEMORRHAGIC TELANGIECTASIA. 57
14171636 1964
38
Balance of profibrotic and antifibrotic [corrected] signaling in nephrogenic systemic fibrosis skin lesions. 61 54
20430497 2010
39
Antibodies to fibrillarin, PM-Scl and RNA polymerase III detected by ELISA assays in patients with systemic sclerosis. 61 54
20138166 2010
40
Dermal tissue and cellular expression of fibrillin-1 in diffuse cutaneous systemic sclerosis. 61 54
20081226 2010
41
Endothelial nitric oxide gene polymorphism and risk of systemic sclerosis: predisposition effect of T-786C promoter and protective effect of 27 bp repeats in Intron 4. 61 54
20406610 2010
42
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. 54 61
19812599 2010
43
Association between a CTGF gene polymorphism and systemic sclerosis in a French population. 54 61
20032097 2010
44
Increased serum interleukin 17 in patients with systemic lupus erythematosus. 54 61
19347604 2010
45
Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population. 54 61
19054818 2009
46
[Endothelin receptor antagonists - their role in pulmonary medicine]. 61 54
20032843 2009
47
Nuclear autoantigen CENP-B transactivation of the epidermal growth factor receptor via chemokine receptor 3 in vascular smooth muscle cells. 54 61
19714638 2009
48
Validation of connective tissue growth factor (CTGF/CCN2) and its gene polymorphisms as noninvasive biomarkers for the assessment of liver fibrosis. 54 61
19243500 2009
49
Alternatively activated macrophages (M2 macrophages) in the skin of patient with localized scleroderma. 61 54
19320738 2009
50
Pivotal role of connective tissue growth factor in lung fibrosis: MAPK-dependent transcriptional activation of type I collagen. 61 54
19565505 2009

Variations for Scleroderma, Familial Progressive

Copy number variations for Scleroderma, Familial Progressive from CNVD:

7
# CNVD ID Chromosome 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

Expression for Scleroderma, Familial Progressive

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

Pathways for Scleroderma, Familial Progressive

GO Terms for Scleroderma, Familial Progressive

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.62 FBN1 COL1A2 COL1A1 CCN2
2 extracellular space GO:0005615 9.5 FBN1 EDN1 COL1A2 COL1A1 CD36 CCN2
3 extracellular matrix GO:0031012 9.46 FBN1 COL1A2 COL1A1 CCN2
4 collagen trimer GO:0005581 9.43 COL1A2 COL1A1 CD36
5 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.78 EDN1 CCN2 BMP6 AIF1
2 extracellular matrix organization GO:0030198 9.72 FBN1 COL1A2 COL1A1
3 positive regulation of cell migration GO:0030335 9.71 EDN1 COL1A1 AIF1
4 blood coagulation GO:0007596 9.67 COL1A2 COL1A1 CD36
5 negative regulation of gene expression GO:0010629 9.62 EDN1 CD36 CCN2 AIF1
6 ossification GO:0001503 9.61 COL1A1 CCN2 BMP6
7 osteoblast differentiation GO:0001649 9.58 FBL COL1A1 BMP6
8 response to amino acid GO:0043200 9.52 EDN1 CCN2
9 endochondral ossification GO:0001958 9.51 COL1A1 BMP6
10 response to fatty acid GO:0070542 9.46 CD36 CCN2
11 skin morphogenesis GO:0043589 9.37 COL1A2 COL1A1
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.33 FBN1 EDN1 COL1A1
13 cellular response to hydroperoxide GO:0071447 9.26 CD36 AIF1
14 positive regulation of nitric oxide biosynthetic process GO:0045429 9.13 EDN1 CD36 AIF1
15 skeletal system development GO:0001501 9.02 FBN1 EDN1 COL1A2 COL1A1 BMP6

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL1A2 COL1A1
2 extracellular matrix structural constituent GO:0005201 9.13 FBN1 COL1A2 COL1A1
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Scleroderma, Familial Progressive

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
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
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
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