MCID: SCL052
MIFTS: 63

Scleroderma, Familial Progressive

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Scleroderma, Familial Progressive

MalaCards integrated aliases for Scleroderma, Familial Progressive:

Name: Scleroderma, Familial Progressive 56
Systemic Sclerosis 56 74 58 36 32
Systemic Scleroderma 58 71
Crest Syndrome 58 71
Calcinosis-Raynaud Phenomenon-Esophageal Involvement-Sclerodactyly-Telangiectasia Syndrome 58
Systemic Sclerosis, Susceptibility to 56
Sclerosis Systemic 54

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant form


HPO:

31
scleroderma, familial progressive:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
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 diffuse cutaneous systemic sclerosis and crest syndrome, 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 Tadalafil and Silver sulfadiazine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and endothelial, and related phenotypes are nausea and vomiting and arthritis

OMIM : 56 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)

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 1049)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 34.4 FBN1 CCN2
2 crest syndrome 32.5 TOP1 CENPB
3 limited scleroderma 32.1 TOP1 FBL EDN1 COL1A2 CENPB CCN2
4 pulmonary hypertension, primary, 1 31.6 EDN1 BMP6
5 pulmonary fibrosis 30.7 EDN1 COL1A1 CCN2 BMP6
6 localized scleroderma 30.6 COL1A1 CCN2 BMP6
7 systemic scleroderma 30.5 TOP1 FBN1 FBL EDN1 COL1A2 CENPB
8 tricuspid valve insufficiency 30.5 FBN1 EDN1
9 raynaud disease 30.5 TOP1 EDN1 CENPB
10 rheumatic disease 30.4 TOP1 COL1A1 CENPB BMP6
11 diffuse scleroderma 30.3 TOP1 FBL EDN1 COL1A2 COL1A1 CENPB
12 telangiectasis 30.2 TOP1 FBN1 FBL CENPB BMP6
13 nephrogenic systemic fibrosis 30.2 EDN1 CCN2
14 dyskinesia of esophagus 30.2 TOP1 CENPB
15 keloid disorder 30.1 CD36 BMP6
16 kidney disease 29.5 EDN1 CD36 CCN2 BMP6
17 pulmonary valve insufficiency 29.5 FBN1 EDN1
18 hypertrophic scars 29.5 CD36 BMP6
19 intraocular pressure quantitative trait locus 29.2 FBN1 EDN1 CCN2
20 renal fibrosis 29.2 CD36 CCN2 BMP6
21 stiff skin syndrome 29.1 FBN1 COL1A2 CCN2
22 pulmonary fibrosis, idiopathic 29.0 EDN1 COL1A2 COL1A1 CCN2 BMP6
23 pelvic organ prolapse 28.9 COL1A2 COL1A1 CD36
24 bone disease 28.5 COL1A1 CD36 BMP6
25 spinal stenosis 28.3 COL1A2 COL1A1
26 collagen disease 28.1 TOP1 FBN1 EDN1 COL1A2 COL1A1 CENPB
27 osteoporosis 28.0 EDN1 COL1A2 COL1A1 CD36 BMP6
28 marfan syndrome 27.7 FBN1 COL1A2 COL1A1 CD36 BMP6
29 connective tissue disease 27.6 TOP1 FBN1 FBL EDN1 COL1A2 COL1A1
30 pulmonary systemic sclerosis 12.5
31 obsolete: pediatric systemic sclerosis 12.2
32 reynolds syndrome 11.6
33 mixed connective tissue disease 11.4
34 gastric antral vascular ectasia 11.4
35 eosinophilic fasciitis 11.4
36 adrenoleukodystrophy 11.3
37 hemolytic uremic syndrome, atypical 1 11.0
38 telangiectasia, hereditary hemorrhagic, type 4 11.0
39 interstitial lung disease 11.0
40 lung disease 11.0
41 autoimmune disease 10.9
42 idiopathic interstitial pneumonia 10.9
43 pulmonary hypertension 10.9
44 scleredema adultorum 10.8
45 calcinosis 10.8
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
47 systemic lupus erythematosus 10.7
48 vascular disease 10.6
49 fibrosis of extraocular muscles, congenital, 1 10.6
50 enthesopathy 10.6

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 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002017
2 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
7 edema 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000969
8 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100679
9 chondrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000934
10 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002960
11 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
12 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
13 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
14 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
15 gastroparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002578
16 abnormality of the gastric mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0004295
17 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
18 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
19 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
20 pulmonary fibrosis 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002206
21 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0100585
22 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
23 skin ulcer 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0200042
24 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
25 pericarditis 58 31 frequent (33%) Frequent (79-30%) HP:0001701
26 pulmonary infiltrates 58 31 frequent (33%) Frequent (79-30%) HP:0002113
27 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
28 mucosal telangiectasiae 58 31 frequent (33%) Frequent (79-30%) HP:0100579
29 myositis 58 31 frequent (33%) Frequent (79-30%) HP:0100614
30 gangrene 58 31 frequent (33%) Frequent (79-30%) HP:0100758
31 myocardial fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0001685
32 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
33 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
34 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
35 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
36 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
37 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
38 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002092
39 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
40 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
41 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
42 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
43 erectile abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0100639
44 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
45 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
46 hypertensive crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100735
47 tendon rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0100550
48 tetralogy of fallot with atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011677
49 sclerodactyly 58 31 Very frequent (99-80%) HP:0011838
50 calcinosis 58 31 Very frequent (99-80%) HP:0003761

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Scleroderma, Familial Progressive:


pruritus, exanthema, hidebound skin

MGI Mouse Phenotypes related to Scleroderma, Familial Progressive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 AIF1 CCN2 CD36 COL1A1 COL1A2 EDN1
2 growth/size/body region MP:0005378 9.76 BMP6 CCN2 CD36 CENPB COL1A1 COL1A2
3 mortality/aging MP:0010768 9.61 CCN2 CD36 CENPB COL1A1 COL1A2 EDN1
4 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 290)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
2
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
3
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Macitentan Approved Phase 4 441798-33-0
7 Immunologic Factors Phase 4
8 Phosphodiesterase 5 Inhibitors Phase 4
9 Phosphodiesterase Inhibitors Phase 4
10 Immunosuppressive Agents Phase 4
11 Anesthetics, Local Phase 4
12 Central Nervous System Depressants Phase 4
13 Autonomic Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Antiprotozoal Agents Phase 4
16 Antiparasitic Agents Phase 4
17 Vaccines Phase 4
18 Sympathomimetics Phase 4
19 Adrenergic Agents Phase 4
20 Adrenergic Agonists Phase 4
21 Vasoconstrictor Agents Phase 4
22 Fibrinolytic Agents Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Cyclooxygenase Inhibitors Phase 4
25 Endothelin Receptor Antagonists Phase 4
26 Endothelin A Receptor Antagonists Phase 4
27 Omega 3 Fatty Acid Phase 4
28
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
29
Sodium citrate Approved, Investigational Phase 3 68-04-2
30
Methocarbamol Approved, Vet_approved Phase 3 532-03-6 4107
31
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
32
Lactulose Approved Phase 3 4618-18-2 11333
33
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
34
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
35 Brodalumab Approved, Investigational Phase 3 1174395-19-7
36
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
37
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
38
Nintedanib Approved Phase 3 656247-17-5 56843413
39
Prilocaine Approved Phase 3 721-50-6 4906
40
Nitrous oxide Approved, Vet_approved Phase 3 10024-97-2 948
41
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
42
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
43
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
44 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
45
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
46
Mesna Approved, Investigational Phase 2, Phase 3 3375-50-6 598
47
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
48
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
49
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
50
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690

Interventional clinical trials:

(show top 50) (show all 404)
# 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 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
3 Safety and Efficacy of Vaccination Against Influenza in Patients With Scleroderma Unknown status NCT01002508 Phase 4
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 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
6 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
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 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
9 Open Label, Non Comparative Study to Investigate the Effect of Bosentan on Pulmonary Artery Remodelling in Pulmonary Arterial Hypertension (PAH). Completed NCT00595049 Phase 4 bosentan
10 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
11 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
12 Microcirculation After MAP Increase in Septic Shock Patients With Previous Hypertension Completed NCT02519699 Phase 4 norepinephrine
13 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
14 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
15 Potential Therapy With MACITENTAN in the Treatment of Chronic Lung Allograft Dysfunction (CLAD) After Lung Transplantation Not yet recruiting NCT02893176 Phase 4 macitentan;placebo (for macitentan)
16 Protocol for a Randomized, Placebo-Controlled, Double-Blinded Trial to Study the Effects of Supplementary Omega-3 Fatty Acids on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
17 Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis Withdrawn NCT01497743 Phase 4 Lactobacillus
18 A Prospective Study of the Utility of Intraoperative, Quantitative Indocyanine Green Angiography in Microvascular Surgery for Systemic Scerlosis Withdrawn NCT03155464 Phase 4 Indocyanine Green
19 Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis Unknown status NCT01586663 Phase 3 Drug treatment
20 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)
21 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
22 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
23 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
24 A Study of a Topical Formulation of Nitroglycerin, MQX-503, and Matching Vehicle in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
25 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]
26 Intravenous Cyclophosphamide for the Treatment of Systemic Sclerosis Associated Interstitial Lung Disease Completed NCT01570764 Phase 3 Cyclophosphamide;Placebo
27 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
28 Evaluation of Rituximab in Systemic Sclerosis Associated Polyarthritis Completed NCT01748084 Phase 2, Phase 3 Rituximab;Placebo (NaCl)
29 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
30 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
31 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
32 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)
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 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
35 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
36 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)
37 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)
38 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
39 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
40 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
41 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
42 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
43 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
44 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
45 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
46 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
47 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
48 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
49 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
50 A Double Blind Randomized Control Trial of Tadalafil in Interstitial Lung Disease of Scleroderma Completed NCT01553981 Phase 3 Tadalafil;Placebo

Search NIH Clinical Center for Scleroderma, Familial Progressive

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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, T Cells, Heart, Testes, Bone

Publications for Scleroderma, Familial Progressive

Articles related to Scleroderma, Familial Progressive:

(show top 50) (show all 14226)
# Title Authors PMID Year
1
A polymorphism in the CTGF promoter region associated with systemic sclerosis. 54 61 56
17881752 2007
2
Examination of the possible role of biologically relevant genes around FBN1 in systemic sclerosis in the Choctaw population. 56 54 61
14613297 2003
3
Monocyte chemoattractant protein 3 as a mediator of fibrosis: Overexpression in systemic sclerosis and the type 1 tight-skin mouse. 61 54 56
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. 56 54 61
11710722 2001
5
Chemokine expression by systemic sclerosis fibroblasts: abnormal regulation of monocyte chemoattractant protein 1 expression. 56 61 54
11407698 2001
6
Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations. 56 54 61
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. 61 54 56
11083269 2000
8
Self reactive repertoire of tight skin mouse: immunochemical and molecular characterization of anti-topoisomerase I autoantibodies. 54 61 56
1718459 1991
9
Proteome-wide analysis and CXCL4 as a biomarker in systemic sclerosis. 56 61
24350901 2014
10
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. 61 56
19286670 2009
11
Stimulatory autoantibodies to the PDGF receptor in systemic sclerosis. 56 61
16790699 2006
12
X chromosome monosomy: a common mechanism for autoimmune diseases. 61 56
15972694 2005
13
Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence. 56 61
13130478 2003
14
Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma). 56 61
11508439 2001
15
Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. 61 56
10395706 1999
16
Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. 61 56
9778214 1998
17
Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes. 56 61
3198128 1988
18
Three siblings with scleroderma (systemic sclerosis) and two with Raynaud's phenomenon from a single kindred. 56 61
6972218 1981
19
The CREST syndrome: a distinct serologic entity with anticentromere antibodies. 61 56
6968511 1980
20
Diversity of antinuclear antibodies in progressive systemic sclerosis. Anti-centromere antibody and its relationship to CREST syndrome. 61 56
6155920 1980
21
The 'CREST' syndrome. Comparison with systemic sclerosis (scleroderma). 61 56
508020 1979
22
Association of the autoimmune disease scleroderma with an immunologic response to cancer. 56
24310608 2014
23
The downregulation of microRNA let-7a contributes to the excessive expression of type I collagen in systemic and localized scleroderma. 56
23509348 2013
24
Scleroderma. 56
19420368 2009
25
Autoantibodies against PDGF receptor in scleroderma. 56
16790706 2006
26
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. 56
8723723 1996
27
Molecular characterization of J558 genes encoding tight-skin mouse autoantibodies: identical heavy-chain variable genes code for antibodies with different specificities. 56
8058758 1994
28
Tight-skin (Tsk) maps on mouse chromosome 2 within the region of linkage homology with human chromosome 15. 56
7959775 1994
29
Familial CREST syndrome. 56
8035406 1994
30
Centromeric association of a microchromosome. A new category of non-random arrangement of metaphase chromosomes. 56
2912883 1989
31
Genetic susceptibility to scleroderma-like syndrome induced by vinyl chloride. 56
6129382 1983
32
Autoantibody to centromere (kinetochore) in scleroderma sera. 56
6966403 1980
33
Familial CRST syndrome with sicca complex. 56
886553 1977
34
Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton. 56
176891 1976
35
Familial progressive systemic scleroderma. 56
1119827 1975
36
MULTIPLE TELANGIECTASIA, RAYNAUD'S PHENOMENON, SCLERODACTYLY, AND SUBCUTANIOUS CALCINOSIS: A SYNDROME MIMICKING HEREDITARY HEMORRHAGIC TELANGIECTASIA. 56
14171636 1964
37
APERISTALSIS OF THE ESOPHAGUS IN PATIENTS WITH CONNECTIVE-TISSUE DISORDERS AND RAYNAUD'S PHENOMENON. 56
14132824 1964
38
Balance of profibrotic and antifibrotic [corrected] signaling in nephrogenic systemic fibrosis skin lesions. 54 61
20430497 2010
39
Antibodies to fibrillarin, PM-Scl and RNA polymerase III detected by ELISA assays in patients with systemic sclerosis. 54 61
20138166 2010
40
Dermal tissue and cellular expression of fibrillin-1 in diffuse cutaneous systemic sclerosis. 54 61
20081226 2010
41
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. 61 54
19812599 2010
42
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
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
[Endothelin receptor antagonists - their role in pulmonary medicine]. 61 54
20032843 2009
46
Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population. 54 61
19054818 2009
47
Validation of connective tissue growth factor (CTGF/CCN2) and its gene polymorphisms as noninvasive biomarkers for the assessment of liver fibrosis. 61 54
19243500 2009
48
Nuclear autoantigen CENP-B transactivation of the epidermal growth factor receptor via chemokine receptor 3 in vascular smooth muscle cells. 61 54
19714638 2009
49
Alternatively activated macrophages (M2 macrophages) in the skin of patient with localized scleroderma. 54 61
19320738 2009
50
Pivotal role of connective tissue growth factor in lung fibrosis: MAPK-dependent transcriptional activation of type I collagen. 54 61
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 positive regulation of cell migration GO:0030335 9.72 EDN1 COL1A1 AIF1
3 extracellular matrix organization GO:0030198 9.71 FBN1 COL1A2 COL1A1
4 blood coagulation GO:0007596 9.69 COL1A2 COL1A1 CD36
5 negative regulation of gene expression GO:0010629 9.62 EDN1 CD36 CCN2 AIF1
6 osteoblast differentiation GO:0001649 9.61 FBL COL1A1 BMP6
7 ossification GO:0001503 9.58 COL1A1 CCN2 BMP6
8 response to amino acid GO:0043200 9.52 EDN1 CCN2
9 endochondral ossification GO:0001958 9.49 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
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
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