MCID: LMT001
MIFTS: 46

Limited Scleroderma malady

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

Aliases & Classifications for Limited Scleroderma

Aliases & Descriptions for Limited Scleroderma:

Name: Limited Scleroderma 12 14
Limited Cutaneous Systemic Sclerosis 12 50 56
Systemic Sclerosis Sine Scleroderma 50 56 69
Limited Cutaneous Systemic Scleroderma 50 56
Limited Systemic Sclerosis 50 56
Scleroderma, Limited 42 69
Progressive Systemic Sclerosis Sine Scleroderma 50
Systemic Sclerosis, Limited 12
Scleroderma, Sine 50
Crest Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
limited cutaneous systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
limited systemic sclerosis
Inheritance: Not applicable; Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:1577
MeSH 42 D045745
ICD10 via Orphanet 34 M34.1 M34.0
UMLS 69 C0748540

Summaries for Limited Scleroderma

NIH Rare Diseases : 50 limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. the exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. in some cases, the condition is associated with exposure to certain chemicals. management is aimed at treating the symptoms present in each affected individual.  last updated: 5/27/2015

MalaCards based summary : Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to diffuse scleroderma and crest syndrome, and has symptoms including nausea and vomiting, dysphagia and gastroesophageal reflux. An important gene associated with Limited Scleroderma is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are NF-kappaB Signaling and IL12-mediated signaling events. The drugs Nitroglycerin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid.

Related Diseases for Limited Scleroderma

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 diffuse scleroderma 27.0 ATRAID CAV1 CCR6 CENPA CENPB CENPC
2 crest syndrome 11.2
3 systemic scleroderma 11.0
4 reynolds syndrome 11.0
5 non-amyloid monoclonal immunoglobulin deposition disease 10.2 HLA-DRB1 IL2RA
6 cerebral sarcoidosis 10.2 HLA-DRB1 IL2 IL2RA
7 renal agenesis meningomyelocele mullerian defect 10.2 HLA-DRB1 IL2
8 heart conduction disease 10.2 HLA-DRB1 IL2 IL2RA
9 caplan's syndrome 10.2 HLA-DRB1 IL2
10 agraphia 10.2 CENPB CTGF TOP1
11 rheumatic fever 10.1 MNDA PYHIN1 TOP1
12 respiratory system disease 10.1 CENPA CENPB HLA-DRB1 IL2RA
13 erythromelalgia 10.0 TOP1 UBTF
14 herpes simplex 10.0 CENPB CTGF SNRNP70 TOP1
15 clivus meningioma 10.0 CENPB CENPC HLA-DRB1 SNRNP70 TOP1
16 dihydroxyadeninuria 9.9 CAV1 CCR6 CTGF HLA-DRB1 IFI16 IRF5
17 testicular lymphoma 9.9 CENPA CENPB CTGF SNRNP70 TOP1
18 cousin syndrome 9.9 HLA-DRB1 IL2 IL2RA IRF5 SNRNP70
19 wolff-parkinson-white syndrome 9.9
20 dermatomyositis 9.9
21 pulmonary hypertension 9.8
22 arthritis 9.7
23 rheumatoid arthritis 9.7
24 nephrotic syndrome 9.7
25 glomerulonephritis 9.7
26 thyroiditis 9.7
27 primary biliary cirrhosis 9.7
28 vasculitis 9.7
29 renal cell carcinoma 9.5
30 sjogren's syndrome 9.5
31 calcinosis 9.5
32 arteriovenous fistula 9.5
33 melanoma 9.5
34 interstitial lung disease 9.5
35 purpura 9.5
36 myasthenia gravis 9.5
37 pneumonia 9.5
38 osteonecrosis 9.5
39 pemphigus foliaceus 9.5
40 lung disease 9.5
41 pemphigus 9.5
42 fibrillary glomerulonephritis 9.5
43 pauci-immune glomerulonephritis 9.5
44 thrombotic thrombocytopenic purpura 9.5
45 esophagitis 9.5

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



Diseases related to Limited Scleroderma

Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
2 dysphagia 56 32 Frequent (79-30%) HP:0002015
3 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
4 pulmonary fibrosis 56 32 Occasional (29-5%) HP:0002206
5 autoimmunity 56 32 Very frequent (99-80%) HP:0002960
6 skin ulcer 56 32 Frequent (79-30%) HP:0200042
7 hypopigmented skin patches 56 32 Very frequent (99-80%) HP:0001053
8 mucosal telangiectasiae 56 32 Frequent (79-30%) HP:0100579
9 contractures involving the joints of the feet 56 32 Occasional (29-5%) HP:0008366
10 joint contracture of the hand 56 32 Occasional (29-5%) HP:0009473
11 narrow foramen obturatorium 56 32 Very frequent (99-80%) HP:0100958
12 pulmonary hypertension 56 Occasional (29-5%)
13 teleangiectasia of the skin 56 Frequent (79-30%)
14 abnormality of skin pigmentation 56 Very frequent (99-80%)
15 abnormality of the skin 56 Very frequent (99-80%)
16 pulmonary arterial hypertension 32 HP:0002092
17 telangiectasia of the skin 32 HP:0100585

Drugs & Therapeutics for Limited Scleroderma

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

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
2
Cyclophosphamide Approved, Investigational Phase 3,Phase 1 50-18-0, 6055-19-2 2907
3
Lenograstim Approved Phase 3 135968-09-1
4
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
5
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
6
Glucosamine Approved, Nutraceutical Phase 2, Phase 3 3416-24-8 439213
7 Vasodilator Agents Phase 3
8 Anesthetics Phase 2, Phase 3
9 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
10 Alkylating Agents Phase 3,Phase 1
11 Antineoplastic Agents, Alkylating Phase 3,Phase 1
12 Antirheumatic Agents Phase 3,Phase 2,Phase 1
13 Immunosuppressive Agents Phase 3,Phase 1
14 Anticoagulants Phase 3,Phase 2
15 Calcium, Dietary Phase 3
16 Chelating Agents Phase 3
17 Phosphodiesterase 5 Inhibitors Phase 3
18 Phosphodiesterase Inhibitors Phase 3
19 Sildenafil Citrate Phase 3 171599-83-0
20 Anesthetics, Local Phase 2, Phase 3
21 Anti-Arrhythmia Agents Phase 2, Phase 3
22 Antimetabolites Phase 2, Phase 3
23 Central Nervous System Depressants Phase 2, Phase 3
24 Diuretics, Potassium Sparing Phase 2, Phase 3
25 Fibrinolytic Agents Phase 2, Phase 3
26 Glucuronyl glucosamine glycan sulfate Phase 2, Phase 3
27 Hypoglycemic Agents Phase 2, Phase 3
28 Hypolipidemic Agents Phase 2, Phase 3
29 Lipid Regulating Agents Phase 2, Phase 3
30 Peripheral Nervous System Agents Phase 2, Phase 3
31 Sodium Channel Blockers Phase 2, Phase 3
32 Citrate Nutraceutical Phase 3
33
Citric Acid Nutraceutical, Vet_approved Phase 3 77-92-9 311
34
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
35
rituximab Approved Phase 2 174722-31-7 10201696
36 Imatinib Mesylate Phase 1, Phase 2 123596
37 Protein Kinase Inhibitors Phase 1, Phase 2
38 Antibodies Phase 1, Phase 2
39 Antibodies, Monoclonal Phase 1, Phase 2
40 Immunoglobulins Phase 1, Phase 2
41 Mitogens Phase 1, Phase 2
42 Antihypertensive Agents Phase 2
43 Tezosentan Phase 2
44 ifetroban Phase 2
45 Platelet Aggregation Inhibitors Phase 2
46
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
47
Mycophenolic acid Approved Phase 1 24280-93-1 446541
48
Interferon beta-1a Approved, Investigational Phase 1 145258-61-3 6438354
49
Acetaminophen Approved Phase 1 103-90-2 1983
50
alemtuzumab Approved, Investigational Phase 1 216503-57-0

Interventional clinical trials:

(show all 31)
id Name Status NCT ID Phase
1 A Study of a Topical Form of Nitroglycerin and Placebo in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3
2 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3
3 Effect of Sildenafil on the Microcirculatory Blood Flow and Endothelial Progenitor Cells in Systemic Sclerosis Completed NCT01347008 Phase 3
4 Effectiveness and Safety of Lidocaine for Scleroderma Completed NCT00740285 Phase 2, Phase 3
5 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3
6 AIMSPRO in Established Diffuse Cutaneous Systemic Sclerosis Unknown status NCT00769028 Phase 2
7 Zibotentan Better Renal Scleroderma Outcome Study Unknown status NCT02047708 Phase 2
8 Imatinib in Systemic Sclerosis Completed NCT00506831 Phase 1, Phase 2
9 Safety, Tolerability, and Pharmacokinetics of CAT-192 (Human Anti-TGF-Beta1 Monoclonal Antibody) in Patients With Early Stage Diffuse Systemic Sclerosis Completed NCT00043706 Phase 1, Phase 2
10 Digital Ischemic Lesions in Scleroderma Treated With Oral Treprostinil Diethanolamine Completed NCT00775463 Phase 2
11 Oral Ifetroban to Treat Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension Recruiting NCT02682511 Phase 2
12 Rituximab for Treatment of Systemic Sclerosis-Associated Pulmonary Arterial Hypertension (SSc-PAH) Recruiting NCT01086540 Phase 2
13 Efficacy of ORM-12741 for Prevention of Raynaud's Phenomenon Terminated NCT01315899 Phase 2
14 Mycophenolate Mofetil in Systemic Sclerosis Completed NCT00433186 Phase 1
15 Phase I BP Interferon (IFN) Beta-001 Completed NCT02515695 Phase 1
16 Nonmyeloablative Allo Stem Cell Transplant for Severe Autoimmune Diseases Terminated NCT00849745 Phase 1
17 Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft Unknown status NCT01133730
18 Lower Urinary Tract Symptoms in Systemic Sclerosis Unknown status NCT01971294
19 Peripheral Muscle Microcirculation and Exercise-induced Blood Flow Distribution in Pulmonary Arterial Hypertension Unknown status NCT01520493
20 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
21 Efficacy of Ambrisentan in Limited Scleroderma Patients in Improving Blood Flow to Hands or Feet Completed NCT01072669
22 Stimulatory Autoantibodies to the Platelet-Derived Growth Factor Receptor (PDGFR) in Patients With Systemic Sclerosis Completed NCT00667134
23 Study of Ambrisentan With Antifibrotic Agent Combination Therapy in Diffuse Systemic Sclerosis Completed NCT01093885
24 Digital Ulceration Completed NCT01377090
25 Treatment Study Comparing Medium or High Dose Uva-1 Treatment 3x/Week Versus Fluocinonide 0.05% Cream in the Treatment of Morphea. Completed NCT00812188
26 Botulinum Toxin in the Treatment of Raynaud's Completed NCT01233999
27 Confirmation of Systemic Autoimmune Diseases in the Agricultural Health Study Completed NCT00341198
28 The Effects of Exercise in Patients With Systemic Sclerosis Recruiting NCT03058887
29 Metabolomic Analysis of Systemic Sclerosis Active, not recruiting NCT02298777
30 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
31 Systemic Sclerosis Clinical and Biomarker Study Withdrawn NCT02531009

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

MalaCards organs/tissues related to Limited Scleroderma:

39
Skin, Bone, Thyroid, Lung, T Cells

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show all 38)
id Title Authors Year
1
Successful long-term (22 Year) treatment ofA limited scleroderma using therapeutic plasma exchange: Is blood rheology theA key? ( 27340761 )
2016
2
Systemic sclerosis - a multi-purpose use of ultrasound: Editorial comment on: G. PracoA8, M. PA8aza, M. Walentowska-Janowicz, I. SudoA8-SzopiA8ska The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 27104009 )
2016
3
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). ( 27353193 )
2016
4
Fibrillary glomerulonephritis associated with limited scleroderma: a case report. ( 26709524 )
2016
5
The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 26675049 )
2015
6
Osteonecrosis of Multiple Joints in a Patient With Limited Scleroderma/CREST Syndrome. ( 25807102 )
2015
7
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. ( 25393970 )
2014
8
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. ( 23656799 )
2013
9
Improved survival in limited scleroderma-related pulmonary artery hypertension. ( 23361526 )
2013
10
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma: comments on the article by Danielides et al. ( 22548259 )
2012
11
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. ( 21417550 )
2011
12
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. ( 21169848 )
2011
13
Pneumatosis intestinalis in limited scleroderma. ( 18260164 )
2008
14
Association of increased telomere lengths in limited scleroderma, with a lack of age-related telomere erosion. ( 18662931 )
2008
15
Effects of olopatadine in limited scleroderma with peripheral eosinophils. ( 18822005 )
2008
16
Clinically significant interstitial lung disease in limited scleroderma: histopathology, clinical features, and survival. ( 18403656 )
2008
17
Lack of increased expression of cell surface markers for circulating fibrocyte progenitors in limited scleroderma. ( 17061153 )
2007
18
Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula. ( 17222301 )
2007
19
Distinct recognition of antibodies to centromere proteins in primary Sjogren's syndrome compared with limited scleroderma. ( 16414973 )
2006
20
Association of limited scleroderma and pulmonary hypertension in a patient with primary biliary cirrhosis. ( 16113494 )
2005
21
Primary esophageal melanoma in a patient with limited scleroderma. ( 16357719 )
2005
22
Calcinosis universalis in systemic sclerosis with limited scleroderma. ( 15789907 )
2005
23
Pentoxyfilline treatment does not influence the plasma levels of IL-2 and sIL-2R in limited scleroderma patients. ( 11257736 )
2001
24
Updating the American College of Rheumatology preliminary classification criteria for systemic sclerosis: addition of severe nailfold capillaroscopy abnormalities markedly increases the sensitivity for limited scleroderma. ( 11263791 )
2001
25
Myasthenia gravis associated with limited scleroderma (CREST syndrome) ( 10701901 )
2000
26
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. ( 19078387 )
1999
27
Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. ( 10347101 )
1999
28
Decreased nailfold capillary density in limited scleroderma with pulmonary hypertension. ( 9876945 )
1998
29
Early assessment of pulmonary involvement in limited scleroderma. A case report. ( 10028872 )
1998
30
Clinical images: Progressive calcifications and draining lesions following staphylococcal infection in a patient with limited scleroderma. ( 9485097 )
1998
31
Exudative pleural effusion and pleural leukocytoclastic vasculitis in limited scleroderma. ( 9598909 )
1998
32
Vasculitis and thrombotic thrombocytopenic purpura in a patient with limited scleroderma. ( 9058673 )
1997
33
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). ( 9126027 )
1997
34
Acute hemodynamic responses to inhaled nitric oxide in patients with limited scleroderma and isolated pulmonary hypertension. ( 8759092 )
1996
35
Image interpretation session: 1995. Case 1. Exogenous lipoid pneumonia superimposed on systemic sclerosis with limited scleroderma (CREST syndrome). ( 10946703 )
1996
36
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. ( 8151564 )
1994
37
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. ( 2213757 )
1990
38
Development of severe limited scleroderma in complicated Raynaud's phenomenon after limb immobilization: report of two cases and study of collagen biosynthesis. ( 3753543 )
1986

Variations for Limited Scleroderma

Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for Limited Scleroderma

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

id Super pathways Score Top Affiliating Genes
1 11.6 ATRAID IFI16 IL2 IL2RA IRF5 MNDA
2
Show member pathways
11.49 HLA-DRB1 IL2 IL2RA
3 11.23 CCR6 IL2 IL2RA
4 10.58 HLA-DRB1 IL2 IL2RA

GO Terms for Limited Scleroderma

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

id Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.72 CENPA CENPB CENPC CENPS TOP1
2 condensed chromosome kinetochore GO:0000777 9.54 CENPA CENPC CENPS
3 chromosome, centromeric region GO:0000775 9.46 CENPA CENPB CENPC CENPS
4 condensed nuclear chromosome kinetochore GO:0000778 9.26 CENPA CENPC
5 condensed nuclear chromosome, centromeric region GO:0000780 9.13 CENPA CENPB CENPC
6 nuclear pericentric heterochromatin GO:0031618 8.8 CENPA CENPB CENPC

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

id Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.72 HLA-DRB1 IFI16 IL2 IL2RA IRF5
2 sister chromatid cohesion GO:0007062 9.58 CENPA CENPC CENPS
3 positive regulation of T cell differentiation GO:0045582 9.43 IL2 IL2RA
4 inflammatory response to antigenic stimulus GO:0002437 9.37 HLA-DRB1 IL2RA
5 CENP-A containing nucleosome assembly GO:0034080 9.33 CENPA CENPC CENPS
6 negative regulation of lymphocyte proliferation GO:0050672 9.26 IL2 IL2RA
7 regulation of T cell homeostatic proliferation GO:0046013 8.96 IL2 IL2RA
8 kinetochore assembly GO:0051382 8.8 CENPA CENPC CENPS

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 CENPA CENPB CENPC CENPS IFI16 IRF5
2 double-stranded DNA binding GO:0003690 9.43 CENPS IFI16 TOP1
3 chromatin binding GO:0003682 9.35 CENPA CENPB CENPS TOP1 UBTF
4 centromeric DNA binding GO:0019237 8.62 CENPB CENPC

Sources for Limited Scleroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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