MCID: LMT001
MIFTS: 60

Limited Scleroderma malady

Rare diseases, Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Immune diseases categories
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Summaries for Limited Scleroderma

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Crest syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. the symptoms involved in crest syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). crest is an acronym for the clinical features that are seen in a patient with this disease. (c) - calcinosis (kal-sin-oh-sis): the formation of calcium deposits in the connective tissues, which can be detected by x ray. they are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. when the deposits break through the skin, painful ulcers can result. (r) - raynaud's (ray-nohz) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. as the vessels contract, the hands or feet turn white and cold, then blue. as blood flow returns, they become red. fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene. (e) - esophageal (eh-soff-uh-gee-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. in the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation. (s) - sclerodactyly (skler-oh-dak-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. the condition makes it harder to bend or straighten the fingers. the skin may also appear shiny and darkened, with hair loss. (t) - telangiectasia (tel-an-jee-ek-tay-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. while not painful, these red spots can create cosmetic problems. it is not necessary to have all five symptoms of crest syndrome to be diagnosed with the disease. some doctors believe only two of the five are necessary for a diagnosis. last updated: 12/7/2011

MalaCards: Limited Scleroderma, also known as crest syndrome, is related to thyroiditis and systemic scleroderma, and has symptoms including periarticular tissue anomaly/extraarticular calcifications, telangiectasiae of mucosae and telangiectasiae of mucosae. An important gene associated with Limited Scleroderma is CTGF (connective tissue growth factor), and among its related pathways are TGF-beta receptor signaling and Cytokines and Inflammatory Response. The compounds ouabain and glatiramer acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and smooth muscle, and related mouse phenotypes are digestive/alimentary and mortality/aging.

Description from OMIM:47 181750

Aliases & Classifications for Limited Scleroderma

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
limited cutaneous systemic scleroderma:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult
systemic sclerosis sine scleroderma:
Inheritance: Sporadic; Age of onset: Adulthood
crest syndrome:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

limited scleroderma 8 43
crest syndrome 43 45 49 47 62
limited cutaneous systemic scleroderma 43 49
limited cutaneous systemic sclerosis 8 49
systemic sclerosis sine scleroderma 49 62
calcinosis, raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome 43
calcinosis - raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia 49
calcinosis-raynaud phenomenon-sclerodactyly-telangiectasia 43
systemic sclerosis, limited 8
limited systemic sclerosis 49
scleroderma, limited 62


External Ids:

Disease Ontology8 DOID:1577
MeSH35 D045745
ICD10 via Orphanet26 M34.1, M34.0
SNOMED-CT via Orphanet59 298285004, 299276009, 128461001 31848007, more
OMIM47 181750
MESH via Orphanet36 D017675
UMLS via Orphanet63 C0206138

Related Diseases for Limited Scleroderma

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17GeneCards, 18GeneDecks
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Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.4HLA-DRB1
2systemic scleroderma30.4CTGF, CENPB, IRF5
3primary biliary cirrhosis30.3CENPB, HLA-DRB1
4sjogren's syndrome30.1IL2RA, CENPB, CENPC
5connective tissue disease30.0CTGF, CENPB
6systemic lupus erythematosus30.0HLA-DRB1, IRF5, CENPB, IL2, IL2RA
7leukemia30.0HLA-DRB1, CCR6, IL2, IL2RA, CAV1
8rheumatoid arthritis29.8CTGF, IL2RA, IL2, CCR6, CENPB, IRF5
9sine scleroderma11.1
10scleroderma10.8
11hypertension10.3
12wolff-parkinson-white syndrome10.3
13antiphospholipid syndrome10.3
14vitiligo10.3
15dermatomyositis10.3
16nephrotic syndrome10.3
17pulmonary fibrosis10.3
18amyopathic dermatomyositis10.3
19linear scleroderma10.3
20polymyositis10.3
21telangiectasis10.3
22nodular regenerative hyperplasia10.3
23pericardial effusion10.2
24neuromyelitis optica10.2
25bronchiolitis10.2
26bronchiolitis obliterans10.2
27bronchiolitis obliterans organizing pneumonia10.2
28gastric antral vascular ectasia10.2
29spinal stenosis10.2
30achalasia10.2
31crescentic glomerulonephritis10.2
32aplastic anemia10.2
33lupus erythematosus10.2
34mononeuritis10.2
35vascular disease10.2
36microscopic polyangiitis10.2
37neuromyelitis optica spectrum disorder10.2
38endotheliitis10.2
39diffuse alveolar hemorrhage10.2
40discoid lupus erythematosus10.2
41vasculitis10.2
42ectropion10.1
43glaucoma10.1
44farmer's lung10.1IL2RA
45periapical granuloma10.1IL2RA
46hemophagocytic lymphohistiocytosis10.1IL2RA
47tropical spastic paraparesis10.1IL2RA, IL2
48granulomatous dermatitis10.1
49trigeminal neuralgia10.1
50pneumatosis cystoides intestinalis10.1

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



Diseases related to limited scleroderma

Symptoms for Limited Scleroderma

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

181750

Clinical features from OMIM:

181750

Symptoms:

49 (show all 24)
  • periarticular tissue anomaly/extraarticular calcifications
  • telangiectasiae of mucosae
  • irregular/patchy skin hypopigmentation
  • abnormal scarring/cheloids/hypertrophic scars
  • autoimmunity/autoimmune reaction/autoantibodies
  • pulmonary hypertension
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • claw hand/retracted fingers
  • claw toes/retracted toes
  • dermal/subcutaneous infiltration/induration
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • tight skin/lack of elasticity
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • anomalies of skin, subcutaneous tissue and mucosae
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • musculo-tendinous retractions
  • lung fibrosis
  • telangiectasiae of the skin
  • cutaneous edema
  • chronic skin infection/ulcerations/ulcers/cancrum
  • dry/squaly skin/exfoliation
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders

Drugs & Therapeutics for Limited Scleroderma

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Limited Scleroderma

Search NIH Clinical Center for Limited Scleroderma

Genetic Tests for Limited Scleroderma

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Anatomical Context for Limited Scleroderma

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33MalaCards
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MalaCards organs/tissues related to Limited Scleroderma:

33
Skin, Skeletal muscle, Smooth muscle, Lung, Bone, Thyroid, T cells

Animal Models for Limited Scleroderma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Limited Scleroderma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4IL2, IL2RA, CAV1, CTGF
2MP:00107687.3CTGF, CAV1, IL2RA, IL2, CENPB, CENPC
3MP:00053787.2CTGF, CAV1, IL2RA, IL2, CENPB, CENPC

Publications for Limited Scleroderma

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52PubMed
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Articles related to Limited Scleroderma:

(show all 31)
idTitleAuthorsYear
1
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. (23656799)
2013
2
Improved survival in limited scleroderma-related pulmonary artery hypertension. (23361526)
2013
3
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma: comments on the article by Danielides et al. (22548259)
2012
4
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. (21169848)
2011
5
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. (21417550)
2011
6
Pneumatosis intestinalis in limited scleroderma. (18260164)
2008
7
Clinically significant interstitial lung disease in limited scleroderma: histopathology, clinical features, and survival. (18403656)
2008
8
Effects of olopatadine in limited scleroderma with peripheral eosinophils. (18822005)
2008
9
Association of increased telomere lengths in limited scleroderma, with a lack of age-related telomere erosion. (18662931)
2008
10
Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula. (17222301)
2007
11
Lack of increased expression of cell surface markers for circulating fibrocyte progenitors in limited scleroderma. (17061153)
2007
12
Distinct recognition of antibodies to centromere proteins in primary Sjogren's syndrome compared with limited scleroderma. (16414973)
2006
13
Calcinosis universalis in systemic sclerosis with limited scleroderma. (15789907)
2005
14
Primary esophageal melanoma in a patient with limited scleroderma. (16357719)
2005
15
Association of limited scleroderma and pulmonary hypertension in a patient with primary biliary cirrhosis. (16113494)
2005
16
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
17
Pentoxyfilline treatment does not influence the plasma levels of IL-2 and sIL-2R in limited scleroderma patients. (11257736)
2001
18
Myasthenia gravis associated with limited scleroderma (CREST syndrome) (10701901)
2000
19
Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. (10347101)
1999
20
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. (19078387)
1999
21
Decreased nailfold capillary density in limited scleroderma with pulmonary hypertension. (9876945)
1998
22
Early assessment of pulmonary involvement in limited scleroderma. A case report. (10028872)
1998
23
Exudative pleural effusion and pleural leukocytoclastic vasculitis in limited scleroderma. (9598909)
1998
24
Clinical images: Progressive calcifications and draining lesions following staphylococcal infection in a patient with limited scleroderma. (9485097)
1998
25
Vasculitis and thrombotic thrombocytopenic purpura in a patient with limited scleroderma. (9058673)
1997
26
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). (9126027)
1997
27
Image interpretation session: 1995. Case 1. Exogenous lipoid pneumonia superimposed on systemic sclerosis with limited scleroderma (CREST syndrome). (10946703)
1996
28
Acute hemodynamic responses to inhaled nitric oxide in patients with limited scleroderma and isolated pulmonary hypertension. (8759092)
1996
29
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. (8151564)
1994
30
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. (2213757)
1990
31
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

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Expression for genes affiliated with Limited Scleroderma

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for genes affiliated with Limited Scleroderma

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Sources:
50PathCards, 38NCBI BioSystems Database, 54R&D Systems, 53QIAGEN, 5Cell Signaling Technology, 60Thomson Reuters, 30KEGG, 55Reactome
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Pathways related to Limited Scleroderma according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CTGF, CAV1
29.4IL2, HLA-DRB1
39.3IL2RA, IL2
4
Show member pathways
IL2 signaling events mediated by STAT538
9.3IL2RA, IL2
5
Show member pathways
Ras signaling in the CD4+ TCR pathway38
9.3IL2RA, IL2
6
Show member pathways
IL-2 Signaling pathway38
9.3IL2RA, IL2
7
Show member pathways
Calcium signaling in the CD4+ TCR pathway38
9.3IL2RA, IL2
8
Show member pathways
9.3IL2RA, IL2
9
Show member pathways
9.0IL2, IL2RA, CTGF
108.9IRF5, IL2, IL2RA
11
Show member pathways
8.9IL2RA, IL2, HLA-DRB1
12
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
8.9HLA-DRB1, IL2, IL2RA
13
Show member pathways
Immune response IL 12 induced IFN gamma production60
8.9IL2RA, IL2, HLA-DRB1
14
Show member pathways
8.9IL2RA, IL2, HLA-DRB1
15
Show member pathways
8.9IL2RA, IL2, HLA-DRB1
168.9IL2RA, IL2, HLA-DRB1
178.9HLA-DRB1, IL2, IL2RA
18
Show member pathways
8.7CCR6, IL2, IL2RA, CTGF
19
Show member pathways
8.7CCR6, IL2, IL2RA, CTGF
20
Show member pathways
8.7CCR6, IL2, IL2RA, CTGF
21
Show member pathways
8.6HLA-DRB1, IL2, IL2RA, CTGF
22
Show member pathways
8.5CAV1, IL2RA, IL2, HLA-DRB1
23
Show member pathways
8.5HLA-DRB1, IRF5, IL2, IL2RA

Compounds for genes affiliated with Limited Scleroderma

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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 3BitterDB
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Compounds related to Limited Scleroderma according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1ouabain45 1110.8CAV1, IL2RA
2glatiramer acetate45 1110.8HLA-DRB1, IL2
3mizoribine459.7IL2RA, IL2
4denileukin diftitox45 51 1111.7IL2RA, IL2
5pentostatin45 61 29 1112.7IL2RA, IL2
6bleomycin45 1110.7IL2RA, CAV1, CTGF
7c-d4t459.7IL2RA, IL2
84-ipp619.7IL2, IL2RA
9git 27619.7IL2, IL2RA
10daclizumab45 1110.7IL2RA, IL2
11basiliximab45 1110.7IL2, IL2RA
12alemtuzumab45 1110.7IL2RA, IL2
13pirfenidone45 6110.7IL2, IL2RA
14levamisole45 1110.7IL2RA, IL2
15as 10145 6110.7IL2RA, IL2
16ranitidine45 29 24 1112.6IL2, IL2RA
17mycophenolic acid45 51 1111.6IL2RA, IL2
18okt3459.6IL2RA, IL2
19con a459.6IL2, IL2RA
202-chlorodeoxyadenosine459.6IL2, IL2RA
212,5-oligoadenylate459.5IL2, IL2RA
22il 10459.5IL2, IL2RA
23mycophenolate mofetil45 51 1111.4IL2, IL2RA
24chloroquine45 3 51 29 1113.4IL2, IL2RA, CAV1
25thalidomide45 51 61 1112.4IL2, IL2RA, CAV1
26pentoxifylline45 1110.3IL2RA, IL2
27neopterin459.3IL2RA, IL2
28gold sodium thiomalate459.3HLA-DRB1, IL2, IL2RA
29rantes459.3IL2RA, IL2, CCR6
30rapamycin459.3CTGF, IL2RA, IL2
31ifn-alpha459.2IL2, IL2RA
32cyclosporin a45 29 6111.1IL2, IL2RA, CAV1, CTGF
33genistein45 29 61 3 24 1114.1CAV1, IL2RA, IL2
34dexamethasone45 51 29 1112.0IL2, IL2RA, CAV1, CTGF
35oligonucleotide458.9HLA-DRB1, CENPB, CAV1, CTGF
36pge2458.7CTGF, IL2RA, IL2
37vegf458.3CTGF, CAV1, IL2RA, IL2, CCR6, IRF5
38tyrosine458.2HLA-DRB1, IRF5, IL2, IL2RA, CAV1, CTGF

GO Terms for genes affiliated with Limited Scleroderma

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16Gene Ontology
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Cellular components related to Limited Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:0306669.7CAV1, HLA-DRB1

Biological processes related to Limited Scleroderma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1T cell costimulationGO:0312959.7CAV1, HLA-DRB1
2inflammatory response to antigenic stimulusGO:0024379.6IL2RA, HLA-DRB1
3regulation of T cell homeostatic proliferationGO:0460139.5IL2RA, IL2
4negative regulation of T cell proliferationGO:0421309.5IL2RA, HLA-DRB1
5positive regulation of activated T cell proliferationGO:0421049.4IL2, IL2RA
6interferon-gamma-mediated signaling pathwayGO:0603339.3IRF5, HLA-DRB1
7negative regulation of inflammatory responseGO:0507289.2IL2RA, IL2
8immune responseGO:0069558.7IL2RA, IL2, CCR6, HLA-DRB1

Molecular functions related to Limited Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centromeric DNA bindingGO:0192379.1CENPB, CENPC

Products for genes affiliated with Limited Scleroderma

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  • Antibodies
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Sources for Limited Scleroderma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet