MCID: LMT001
MIFTS: 56

Limited Scleroderma malady

Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases categories

Summaries for Limited Scleroderma

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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 based summary: Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to thyroiditis and primary biliary cirrhosis, and has symptoms including dry skin, hypopigmented skin patches and acrocyanosis. 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, smooth muscle and skeletal muscle, and related mouse phenotypes are digestive/alimentary and mortality/aging.

Aliases & Classifications for Limited Scleroderma

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 35MeSH, 57SNOMED-CT, 28ICD10 via Orphanet
See all sources

Limited Scleroderma, Aliases & Descriptions:

Name: Limited Scleroderma 10 43
Limited Cutaneous Systemic Sclerosis 10 49 62
Calcinosis-Raynaud Phenomenon-Sclerodactyly-Telangiectasia 43 62
Limited Cutaneous Systemic Scleroderma 43 49
Crest Syndrome 43 62
Calcinosis, Raynaud's Phenomenon, Esophageal Dismobility, Sclerodactyly, Telangiectasia Syndrome 43
 
Calcinosis - Raynaud Phenomenon - Esophageal Involvement - Sclerodactyly - Telangiectasia 43
Systemic Sclerosis Sine Scleroderma 62
Systemic Sclerosis, Limited 10
Limited Systemic Sclerosis 62
Scleroderma, Limited 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
limited cutaneous systemic sclerosis:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology10 DOID:1577
MeSH35 D045745
Orphanet49 220402
ICD10 via Orphanet28 M34.1

Related Diseases for Limited Scleroderma

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.4HLA-DRB1
2primary biliary cirrhosis30.3CENPB, HLA-DRB1
3renal cell carcinoma30.1IL2
4sjogren's syndrome30.1CENPC, IL2RA, CENPB
5systemic scleroderma30.1IRF5, CENPB, CTGF
6connective tissue disease30.0CENPB, CTGF
7scleroderma10.8
8crest syndrome10.3
9telangiectasis10.3
10nodular regenerative hyperplasia10.3
11pulmonary hypertension10.3
12aplastic anemia10.2
13bronchiolitis obliterans10.2
14neuromyelitis optica10.2
15spinal stenosis10.2
16bronchiolitis10.2
17bronchiolitis obliterans organizing pneumonia10.2
18gastric antral vascular ectasia10.2
19achalasia10.2
20crescentic glomerulonephritis10.2
21lupus erythematosus10.2
22mononeuritis10.2
23vascular disease10.2
24microscopic polyangiitis10.2
25neuromyelitis optica spectrum disorder10.2
26sine scleroderma10.2
27endotheliitis10.2
28diffuse alveolar hemorrhage10.2
29discoid lupus erythematosus10.2
30vasculitis10.2
31ectropion10.1
32pneumatosis cystoides intestinalis10.1
33panniculitis10.1
34farmer's lung10.1IL2RA
35periapical granuloma10.1IL2RA
36hemophagocytic lymphohistiocytosis10.1IL2RA
37arteriovenous fistula10.0
38glomerulonephritis10.0
39myasthenia gravis10.0
40osteonecrosis10.0
41pemphigus foliaceus10.0
42diffuse scleroderma10.0
43thrombotic thrombocytopenic purpura10.0
44pemphigus10.0
45calcinosis10.0
46esophagitis10.0
47interstitial lung disease10.0
48melanoma10.0
49pneumonia10.0
50purpura10.0

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



Diseases related to limited scleroderma

Symptoms for Limited Scleroderma

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Symptoms:

 49 (show all 19)
  • anomalies of skin, subcutaneous tissue and mucosae
  • dry/squaly skin/exfoliation
  • dermal/subcutaneous infiltration/induration
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • autoimmunity/autoimmune reaction/autoantibodies
  • chronic skin infection/ulcerations/ulcers/cancrum
  • telangiectasiae of the skin
  • telangiectasiae of mucosae
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • periarticular tissue anomaly/extraarticular calcifications
  • claw hand/retracted fingers
  • claw toes/retracted toes
  • lung fibrosis
  • pulmonary hypertension
  • musculo-tendinous retractions

HPO human phenotypes related to Limited Scleroderma:

(show all 13)
id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 hypopigmented skin patches hallmark (90%) HP:0001053
3 acrocyanosis hallmark (90%) HP:0001063
4 autoimmunity hallmark (90%) HP:0002960
5 chondrocalcinosis typical (50%) HP:0000934
6 nausea and vomiting typical (50%) HP:0002017
7 feeding difficulties in infancy typical (50%) HP:0008872
8 mucosal telangiectasiae typical (50%) HP:0100579
9 teleangiectasia of the skin typical (50%) HP:0100585
10 skin ulcer typical (50%) HP:0200042
11 camptodactyly of toe occasional (7.5%) HP:0001836
12 pulmonary hypertension occasional (7.5%) HP:0002092
13 pulmonary fibrosis occasional (7.5%) HP:0002206

Drugs & Therapeutics for Limited Scleroderma

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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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MalaCards organs/tissues related to Limited Scleroderma:

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

Animal Models for Limited Scleroderma or affiliated genes

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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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Articles related to Limited Scleroderma:

(show all 33)
idTitleAuthorsYear
1
Osteonecrosis of Multiple Joints in a Patient With Limited Scleroderma/CREST Syndrome. (25807102)
2015
2
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. (25393970)
2014
3
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. (23656799)
2013
4
Improved survival in limited scleroderma-related pulmonary artery hypertension. (23361526)
2013
5
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma: comments on the article by Danielides et al. (22548259)
2012
6
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. (21169848)
2011
7
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. (21417550)
2011
8
Pneumatosis intestinalis in limited scleroderma. (18260164)
2008
9
Clinically significant interstitial lung disease in limited scleroderma: histopathology, clinical features, and survival. (18403656)
2008
10
Effects of olopatadine in limited scleroderma with peripheral eosinophils. (18822005)
2008
11
Association of increased telomere lengths in limited scleroderma, with a lack of age-related telomere erosion. (18662931)
2008
12
Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula. (17222301)
2007
13
Lack of increased expression of cell surface markers for circulating fibrocyte progenitors in limited scleroderma. (17061153)
2007
14
Distinct recognition of antibodies to centromere proteins in primary Sjogren's syndrome compared with limited scleroderma. (16414973)
2006
15
Calcinosis universalis in systemic sclerosis with limited scleroderma. (15789907)
2005
16
Primary esophageal melanoma in a patient with limited scleroderma. (16357719)
2005
17
Association of limited scleroderma and pulmonary hypertension in a patient with primary biliary cirrhosis. (16113494)
2005
18
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
19
Pentoxyfilline treatment does not influence the plasma levels of IL-2 and sIL-2R in limited scleroderma patients. (11257736)
2001
20
Myasthenia gravis associated with limited scleroderma (CREST syndrome) (10701901)
2000
21
Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. (10347101)
1999
22
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. (19078387)
1999
23
Decreased nailfold capillary density in limited scleroderma with pulmonary hypertension. (9876945)
1998
24
Early assessment of pulmonary involvement in limited scleroderma. A case report. (10028872)
1998
25
Exudative pleural effusion and pleural leukocytoclastic vasculitis in limited scleroderma. (9598909)
1998
26
Clinical images: Progressive calcifications and draining lesions following staphylococcal infection in a patient with limited scleroderma. (9485097)
1998
27
Vasculitis and thrombotic thrombocytopenic purpura in a patient with limited scleroderma. (9058673)
1997
28
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). (9126027)
1997
29
Image interpretation session: 1995. Case 1. Exogenous lipoid pneumonia superimposed on systemic sclerosis with limited scleroderma (CREST syndrome). (10946703)
1996
30
Acute hemodynamic responses to inhaled nitric oxide in patients with limited scleroderma and isolated pulmonary hypertension. (8759092)
1996
31
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. (8151564)
1994
32
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. (2213757)
1990
33
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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Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for genes affiliated with Limited Scleroderma

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Pathways related to Limited Scleroderma according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Limited Scleroderma

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Compounds related to Limited Scleroderma according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1ouabain45 1310.8CAV1, IL2RA
2glatiramer acetate45 1310.8HLA-DRB1, IL2
3mizoribine459.7IL2RA, IL2
4denileukin diftitox45 51 1311.7IL2RA, IL2
5pentostatin45 61 30 1312.7IL2RA, IL2
6bleomycin45 1310.7IL2RA, CAV1, CTGF
7c-d4t459.7IL2RA, IL2
84-ipp619.7IL2, IL2RA
9git 27619.7IL2, IL2RA
10daclizumab45 1310.7IL2RA, IL2
11basiliximab45 1310.7IL2, IL2RA
12alemtuzumab45 1310.7IL2RA, IL2
13pirfenidone45 6110.7IL2, IL2RA
14levamisole45 1310.7IL2RA, IL2
15as 10145 6110.7IL2RA, IL2
16ranitidine45 30 26 1312.6IL2, IL2RA
17mycophenolic acid45 51 1311.6IL2RA, IL2
18okt3459.6IL2RA, IL2
19con a459.6IL2, IL2RA
202-chlorodeoxyadenosine459.6IL2, IL2RA
212,5-oligoadenylate459.5IL2, IL2RA
22il 10459.5IL2, IL2RA
23mycophenolate mofetil45 51 1311.4IL2, IL2RA
24chloroquine45 3 51 30 1313.4IL2, IL2RA, CAV1
25thalidomide45 51 61 1312.4IL2, IL2RA, CAV1
26pentoxifylline45 1310.3IL2RA, 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 30 6111.1IL2, IL2RA, CAV1, CTGF
33genistein45 30 61 3 26 1314.1CAV1, IL2RA, IL2
34dexamethasone45 51 30 1312.0IL2, 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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Cellular components related to Limited Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:00306669.7CAV1, HLA-DRB1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1T cell costimulationGO:00312959.7CAV1, HLA-DRB1
2inflammatory response to antigenic stimulusGO:00024379.6IL2RA, HLA-DRB1
3regulation of T cell homeostatic proliferationGO:00460139.5IL2RA, IL2
4negative regulation of T cell proliferationGO:00421309.5IL2RA, HLA-DRB1
5positive regulation of activated T cell proliferationGO:00421049.4IL2, IL2RA
6interferon-gamma-mediated signaling pathwayGO:00603339.3IRF5, HLA-DRB1
7negative regulation of inflammatory responseGO:00507289.2IL2RA, IL2
8immune responseGO:00069558.7IL2RA, IL2, CCR6, HLA-DRB1

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

idNameGO IDScoreTop Affiliating Genes
1centromeric DNA bindingGO:00192379.1CENPB, CENPC

Products for genes affiliated with Limited Scleroderma

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Sources for Limited Scleroderma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet