MCID: LMT001
MIFTS: 49

Limited Scleroderma malady

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

Aliases & Classifications for Limited Scleroderma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 33MeSH, 55SNOMED-CT, 26ICD10 via Orphanet, 25ICD10
See all sources

Limited Scleroderma, Aliases & Descriptions:

Name: Limited Scleroderma 9 41
Limited Cutaneous Systemic Scleroderma 41 47
Limited Cutaneous Systemic Sclerosis 9 47
Crest Syndrome 41 60
Calcinosis, Raynaud's Phenomenon, Esophageal Dismobility, Sclerodactyly, Telangiectasia Syndrome 41
 
Calcinosis - Raynaud Phenomenon - Esophageal Involvement - Sclerodactyly - Telangiectasia 41
Calcinosis-Raynaud Phenomenon-Sclerodactyly-Telangiectasia 41
Systemic Sclerosis, Limited 9
Scleroderma, Limited 60
Crst Syndrome 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
limited cutaneous systemic scleroderma:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology9 DOID:1577
MeSH33 D045745
Orphanet47 220402
ICD10 via Orphanet26 M34.1
ICD1025 M34.1

Summaries for Limited Scleroderma

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NIH Rare Diseases:41 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 scleroderma, is related to thyroiditis and renal cell carcinoma, 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.

Related Diseases for Limited Scleroderma

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.9HLA-DRB1
2renal cell carcinoma30.4IL2
3primary biliary cirrhosis30.4CENPB, HLA-DRB1
4sjogren's syndrome30.4CENPC, IL2RA, CENPB
5connective tissue disease30.4CENPB, CTGF
6systemic scleroderma30.0IRF5, CENPB, CTGF
7scleroderma10.8
8farmer's lung10.5IL2RA
9periapical granuloma10.5IL2RA
10hemophagocytic lymphohistiocytosis10.5IL2RA
11crest syndrome10.3
12tropical spastic paraparesis10.3IL2, IL2RA
13acute graft versus host disease10.3IL2RA, IL2
14sezary's disease10.3IL2RA, IL2
15severe combined immunodeficiency, x-linked10.3IL2, IL2RA
16common variable immunodeficiency10.3IL2, IL2RA
17hcl-v10.3IL2, IL2RA
18pulmonary sarcoidosis10.3IL2, IL2RA
19telangiectasis10.3
20nodular regenerative hyperplasia10.3
21pulmonary hypertension10.3
22mycosis fungoides10.3IL2RA, IL2
23lymphopenia10.3IL2, IL2RA
24vogt-koyanagi-harada disease10.3HLA-DRB1, IL2RA
25leprosy10.3IL2, HLA-DRB1
26cutaneous t cell lymphoma10.2IL2RA, IL2
27rheumatic disease10.2IL2RA, CENPB
28severe combined immunodeficiency10.2IL2, IL2RA
29juvenile rheumatoid arthritis10.2IL2RA, HLA-DRB1
30aplastic anemia10.2
31bronchiolitis obliterans10.2
32neuromyelitis optica10.2
33spinal stenosis10.2
34bronchiolitis10.2
35bronchiolitis obliterans organizing pneumonia10.2
36gastric antral vascular ectasia10.2
37achalasia10.2
38crescentic glomerulonephritis10.2
39lupus erythematosus10.2
40mononeuritis10.2
41vascular disease10.2
42microscopic polyangiitis10.2
43neuromyelitis optica spectrum disorder10.2
44endotheliitis10.2
45diffuse alveolar hemorrhage10.2
46discoid lupus erythematosus10.2
47hepatitis b10.2HLA-DRB1, IL2RA
48vasculitis10.2
49viral hepatitis10.2CTGF, HLA-DRB1
50diphtheria10.1IL2RA, IL2

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:

 47 (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:

31
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:

35
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 Suite gene sharing:

(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 STAT536
9.3IL2RA, IL2
5
Show member pathways
Ras signaling in the CD4+ TCR pathway36
9.3IL2RA, IL2
6
Show member pathways
IL-2 Signaling pathway36
9.3IL2RA, IL2
7
Show member pathways
Calcium signaling in the CD4+ TCR pathway36
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 pathway58
G protein signaling N RAS regulation pathway58
8.9HLA-DRB1, IL2, IL2RA
13
Show member pathways
Immune response IL 12 induced IFN gamma production58
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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Compounds related to Limited Scleroderma according to GeneCards Suite gene sharing:

(show all 38)
idCompoundScoreTop Affiliating Genes
1ouabain43 1210.8CAV1, IL2RA
2glatiramer acetate43 1210.8HLA-DRB1, IL2
3mizoribine439.7IL2RA, IL2
4denileukin diftitox43 49 1211.7IL2RA, IL2
5pentostatin43 59 28 1212.7IL2RA, IL2
6bleomycin43 1210.7IL2RA, CAV1, CTGF
7c-d4t439.7IL2RA, IL2
84-ipp599.7IL2, IL2RA
9git 27599.7IL2, IL2RA
10daclizumab43 1210.7IL2RA, IL2
11basiliximab43 1210.7IL2, IL2RA
12alemtuzumab43 1210.7IL2RA, IL2
13pirfenidone43 5910.7IL2, IL2RA
14levamisole43 1210.7IL2RA, IL2
15as 10143 5910.7IL2RA, IL2
16ranitidine43 28 24 1212.6IL2, IL2RA
17mycophenolic acid43 49 1211.6IL2RA, IL2
18okt3439.6IL2RA, IL2
19con a439.6IL2, IL2RA
202-chlorodeoxyadenosine439.6IL2, IL2RA
212,5-oligoadenylate439.5IL2, IL2RA
22il 10439.5IL2, IL2RA
23mycophenolate mofetil43 49 1211.4IL2, IL2RA
24chloroquine43 2 49 28 1213.4IL2, IL2RA, CAV1
25thalidomide43 49 59 1212.4IL2, IL2RA, CAV1
26pentoxifylline43 1210.3IL2RA, IL2
27neopterin439.3IL2RA, IL2
28gold sodium thiomalate439.3HLA-DRB1, IL2, IL2RA
29rantes439.3IL2RA, IL2, CCR6
30rapamycin439.3CTGF, IL2RA, IL2
31ifn-alpha439.2IL2, IL2RA
32cyclosporin a43 28 5911.1IL2, IL2RA, CAV1, CTGF
33genistein43 28 59 2 24 1214.1CAV1, IL2RA, IL2
34dexamethasone43 49 28 1212.0IL2, IL2RA, CAV1, CTGF
35oligonucleotide438.9HLA-DRB1, CENPB, CAV1, CTGF
36pge2438.7CTGF, IL2RA, IL2
37vegf438.3CTGF, CAV1, IL2RA, IL2, CCR6, IRF5
38tyrosine438.2HLA-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 Suite gene sharing:

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

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

(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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet