MCID: LMT001
MIFTS: 47

Limited Scleroderma

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

Aliases & Classifications for Limited Scleroderma

MalaCards integrated aliases for Limited Scleroderma:

Name: Limited Scleroderma 12 14
Limited Cutaneous Systemic Sclerosis 12 49 55
Systemic Sclerosis Sine Scleroderma 49 55 69
Limited Cutaneous Systemic Scleroderma 49 55
Limited Systemic Sclerosis 49 55
Scleroderma, Limited 41 69
Progressive Systemic Sclerosis Sine Scleroderma 49
Systemic Sclerosis, Limited 12
Scleroderma, Sine 49
Crest Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
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:



Summaries for Limited Scleroderma

NIH Rare Diseases : 49 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 crest syndrome and systemic scleroderma, and has symptoms including hypopigmented skin patches, dysphagia and nausea and vomiting. An important gene associated with Limited Scleroderma is CCR6 (C-C Motif Chemokine Receptor 6), and among its related pathways/superpathways are NF-kappaB Signaling and IL12-mediated signaling events. The drugs Bupivacaine and Anesthetics 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 47)
# Related Disease Score Top Affiliating Genes
1 crest syndrome 32.3 CENPB TOP1 UBTF
2 systemic scleroderma 31.2 CENPA CENPB CTGF SNRNP70 TOP1
3 scleroderma, familial progressive 29.9 CTGF TOP1
4 diffuse scleroderma 29.7 MNDA PYHIN1 TOP1
5 reynolds syndrome 11.1
6 rheumatoid factor-negative juvenile idiopathic arthritis 10.4 HLA-DRB1 IL2RA
7 berylliosis 10.3 HLA-DRB1 IL2
8 pure red-cell aplasia 10.3 HLA-DRB1 IL2 IL2RA
9 mumps 10.3 HLA-DRB1 IL2 IL2RA
10 recurrent respiratory papillomatosis 10.3 HLA-DRB1 IL2
11 dyskinesia of esophagus 10.1 TOP1 UBTF
12 hypersensitivity reaction disease 10.1 HLA-DRB1 IL2 SNRNP70
13 autoimmune disease 10.1 CENPB HLA-DRB1 IL2 IL2RA IRF5
14 collagen disease 10.0 CENPB CTGF SNRNP70 TOP1
15 rheumatic disease 9.9 CENPA CENPB HLA-DRB1 IL2RA TOP1
16 pulmonary hypertension 9.9
17 connective tissue disease 9.8 CENPB CENPC HLA-DRB1 SNRNP70 TOP1
18 rheumatoid arthritis 9.8
19 arthritis 9.8
20 pulmonary fibrosis 9.8
21 diffuse cutaneous systemic sclerosis 9.8 CAV1 CCR6 CTGF HLA-DRB1 IFI16 IRF5
22 biliary cirrhosis, primary, 1 9.8
23 glomerulonephritis 9.8
24 primary biliary cirrhosis 9.8
25 calcinosis 9.8
26 thyroiditis 9.8
27 vasculitis 9.8
28 renal cell carcinoma, nonpapillary 9.6
29 pulmonary hypertension, primary, 1 9.6
30 myasthenia gravis 9.6
31 sjogren syndrome 9.6
32 aging 9.6
33 arteriovenous fistula 9.6
34 osteonecrosis 9.6
35 pemphigus foliaceus 9.6
36 thrombotic thrombocytopenic purpura 9.6
37 esophagus melanoma 9.6
38 esophagitis 9.6
39 melanoma 9.6
40 interstitial lung disease 9.6
41 purpura 9.6
42 pneumonia 9.6
43 lung disease 9.6
44 pemphigus 9.6
45 fibrillary glomerulonephritis 9.6
46 myasthenia gravis congenital 9.6
47 pauci-immune glomerulonephritis 9.6

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:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 55 31 hallmark (90%) Very frequent (99-80%) HP:0001053
2 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
3 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
4 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
5 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
6 pulmonary fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002206
7 autoimmunity 55 31 hallmark (90%) Very frequent (99-80%) HP:0002960
8 contractures involving the joints of the feet 55 31 occasional (7.5%) Occasional (29-5%) HP:0008366
9 joint contracture of the hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0009473
10 mucosal telangiectasiae 55 31 frequent (33%) Frequent (79-30%) HP:0100579
11 telangiectasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0100585
12 narrow foramen obturatorium 55 31 hallmark (90%) Very frequent (99-80%) HP:0100958
13 skin ulcer 55 31 frequent (33%) Frequent (79-30%) HP:0200042
14 abnormality of the skin 55 Very frequent (99-80%)
15 abnormality of skin pigmentation 55 Very frequent (99-80%)

Drugs & Therapeutics for Limited Scleroderma

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
2 Anesthetics Phase 2, Phase 3,Not Applicable
3 Anesthetics, Local Phase 2, Phase 3
4 Central Nervous System Depressants Phase 2, Phase 3
5 Peripheral Nervous System Agents Phase 2, Phase 3
6
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
7 Racepinephrine Approved Not Applicable 329-65-7
8
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
9 Antihypertensive Agents
10 Autoantibodies
11 Mitogens
12 Analgesics Not Applicable
13 Epinephryl borate Not Applicable
14 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
2 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
3 Efficacy of Ambrisentan in Limited Scleroderma Patients in Improving Blood Flow to Hands or Feet Completed NCT01072669 ambrisentan
4 Stimulatory Autoantibodies to the Platelet-Derived Growth Factor Receptor (PDGFR) in Patients With Systemic Sclerosis Completed NCT00667134
5 Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft Completed NCT01133730 Not Applicable Active treatment;Placebo Arm
6 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:

38
Skin, Bone, Thyroid, T Cells, Lung

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show all 39)
# Title Authors Year
1
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. ( 29308290 )
2017
2
Fibrillary glomerulonephritis associated with limited scleroderma: a case report. ( 26709524 )
2016
3
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
4
Successful long-term (22 Year) treatment ofA limited scleroderma using therapeutic plasma exchange: Is blood rheology theA key? ( 27340761 )
2016
5
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). ( 27353193 )
2016
6
Osteonecrosis of Multiple Joints in a Patient With Limited Scleroderma/CREST Syndrome. ( 25807102 )
2015
7
The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 26675049 )
2015
8
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. ( 25393970 )
2014
9
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. ( 23656799 )
2013
10
Improved survival in limited scleroderma-related pulmonary artery hypertension. ( 23361526 )
2013
11
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma: comments on the article by Danielides et al. ( 22548259 )
2012
12
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. ( 21169848 )
2011
13
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. ( 21417550 )
2011
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
Pneumatosis intestinalis in limited scleroderma. ( 18260164 )
2008
18
Lack of increased expression of cell surface markers for circulating fibrocyte progenitors in limited scleroderma. ( 17061153 )
2007
19
Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula. ( 17222301 )
2007
20
Distinct recognition of antibodies to centromere proteins in primary Sjogren's syndrome compared with limited scleroderma. ( 16414973 )
2006
21
Primary esophageal melanoma in a patient with limited scleroderma. ( 16357719 )
2005
22
Association of limited scleroderma and pulmonary hypertension in a patient with primary biliary cirrhosis. ( 16113494 )
2005
23
Calcinosis universalis in systemic sclerosis with limited scleroderma. ( 15789907 )
2005
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
Pentoxyfilline treatment does not influence the plasma levels of IL-2 and sIL-2R in limited scleroderma patients. ( 11257736 )
2001
26
Myasthenia gravis associated with limited scleroderma (CREST syndrome) ( 10701901 )
2000
27
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. ( 19078387 )
1999
28
Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. ( 10347101 )
1999
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
Decreased nailfold capillary density in limited scleroderma with pulmonary hypertension. ( 9876945 )
1998
33
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). ( 9126027 )
1997
34
Vasculitis and thrombotic thrombocytopenic purpura in a patient with limited scleroderma. ( 9058673 )
1997
35
Image interpretation session: 1995. Case 1. Exogenous lipoid pneumonia superimposed on systemic sclerosis with limited scleroderma (CREST syndrome). ( 10946703 )
1996
36
Acute hemodynamic responses to inhaled nitric oxide in patients with limited scleroderma and isolated pulmonary hypertension. ( 8759092 )
1996
37
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. ( 8151564 )
1994
38
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. ( 2213757 )
1990
39
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:

# Super pathways Score Top Affiliating Genes
1 11.61 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:

# 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:

# 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 9.61 CENPA CENPC CENPS
3 positive regulation of T cell differentiation GO:0045582 9.46 IL2 IL2RA
4 regulation of regulatory T cell differentiation GO:0045589 9.4 IL2 IL2RA
5 inflammatory response to antigenic stimulus GO:0002437 9.37 HLA-DRB1 IL2RA
6 CENP-A containing nucleosome assembly GO:0034080 9.33 CENPA CENPC CENPS
7 negative regulation of lymphocyte proliferation GO:0050672 9.26 IL2 IL2RA
8 regulation of T cell homeostatic proliferation GO:0046013 8.96 IL2 IL2RA
9 kinetochore assembly GO:0051382 8.8 CENPA CENPC CENPS

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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