MCID: LMT001
MIFTS: 56

Limited Scleroderma malady

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

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NIH Rare Diseases:42 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 anomalies of skin, subcutaneous tissue and mucosae, dry/squaly skin/exfoliation and dermal/subcutaneous infiltration/induration. 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:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
See all sources

Limited Scleroderma, Aliases & Descriptions:

Name: Limited Scleroderma 8 42
Limited Cutaneous Systemic Sclerosis 8 48 62
Calcinosis-Raynaud Phenomenon-Sclerodactyly-Telangiectasia 42 62
Limited Cutaneous Systemic Scleroderma 42 48
Systemic Sclerosis Sine Scleroderma 48 62
 
Limited Systemic Sclerosis 48 62
Crest Syndrome 42 62
Calcinosis, Raynaud's Phenomenon, Esophageal Dismobility, Sclerodactyly, Telangiectasia Syndrome 42
Systemic Sclerosis, Limited 8
Scleroderma, Limited 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
limited cutaneous systemic sclerosis:
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


External Ids:

Disease Ontology8 DOID:1577
MeSH34 D045745
ICD10 via Orphanet26 M34.1, M34.0

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 146)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.9HLA-DRB1
2primary biliary cirrhosis30.5CENPB, HLA-DRB1
3sjogren's syndrome30.4IL2RA, CENPB, CENPC
4systemic scleroderma30.4CTGF, CENPB, IRF5
5connective tissue disease30.4CTGF, CENPB
6systemic lupus erythematosus29.6HLA-DRB1, IRF5, CENPB, IL2, IL2RA
7leukemia29.6HLA-DRB1, CCR6, IL2, IL2RA, CAV1
8rheumatoid arthritis28.9CTGF, IL2RA, IL2, CCR6, CENPB, IRF5
9scleroderma10.8
10farmer's lung10.5IL2RA
11periapical granuloma10.5IL2RA
12hemophagocytic lymphohistiocytosis10.5IL2RA
13hypertension10.3
14pulmonary fibrosis10.3
15vitiligo10.3
16antiphospholipid syndrome10.3
17wolff-parkinson-white syndrome10.3
18dermatomyositis10.3
19nephrotic syndrome10.3
20amyopathic dermatomyositis10.3
21linear scleroderma10.3
22polymyositis10.3
23tropical spastic paraparesis10.3IL2RA, IL2
24acute graft versus host disease10.3IL2, IL2RA
25sezary's disease10.3IL2, IL2RA
26gamma chain deficiency10.3IL2, IL2RA
27common variable immunodeficiency10.3IL2RA, IL2
28hairy cell leukemia10.3IL2RA, IL2
29pulmonary sarcoidosis10.3IL2, IL2RA
30pulmonary hypertension10.3
31crest syndrome10.3
32telangiectasis10.3
33nodular regenerative hyperplasia10.3
34mycosis fungoides10.3IL2RA, IL2
35lymphopenia10.3IL2, IL2RA
36vogt-koyanagi-harada disease10.3IL2RA, HLA-DRB1
37leprosy10.3IL2, HLA-DRB1
38kidney cancer10.3IL2
39cutaneous t cell lymphoma10.3IL2, IL2RA
40rheumatic disease10.2IL2RA, CENPB
41pericardial effusion10.2
42severe combined immunodeficiency10.2IL2RA, IL2
43juvenile rheumatoid arthritis10.2IL2RA, HLA-DRB1
44aplastic anemia10.2
45bronchiolitis obliterans10.2
46neuromyelitis optica10.2
47spinal stenosis10.2
48bronchiolitis10.2
49bronchiolitis obliterans organizing pneumonia10.2
50gastric antral vascular ectasia10.2

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:

48 (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:

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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:

32
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:

36
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 32)
idTitleAuthorsYear
1
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. (25393970)
2014
2
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. (23656799)
2013
3
Improved survival in limited scleroderma-related pulmonary artery hypertension. (23361526)
2013
4
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma: comments on the article by Danielides et al. (22548259)
2012
5
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. (21169848)
2011
6
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. (21417550)
2011
7
Pneumatosis intestinalis in limited scleroderma. (18260164)
2008
8
Clinically significant interstitial lung disease in limited scleroderma: histopathology, clinical features, and survival. (18403656)
2008
9
Effects of olopatadine in limited scleroderma with peripheral eosinophils. (18822005)
2008
10
Association of increased telomere lengths in limited scleroderma, with a lack of age-related telomere erosion. (18662931)
2008
11
Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula. (17222301)
2007
12
Lack of increased expression of cell surface markers for circulating fibrocyte progenitors in limited scleroderma. (17061153)
2007
13
Distinct recognition of antibodies to centromere proteins in primary Sjogren's syndrome compared with limited scleroderma. (16414973)
2006
14
Calcinosis universalis in systemic sclerosis with limited scleroderma. (15789907)
2005
15
Primary esophageal melanoma in a patient with limited scleroderma. (16357719)
2005
16
Association of limited scleroderma and pulmonary hypertension in a patient with primary biliary cirrhosis. (16113494)
2005
17
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
18
Pentoxyfilline treatment does not influence the plasma levels of IL-2 and sIL-2R in limited scleroderma patients. (11257736)
2001
19
Myasthenia gravis associated with limited scleroderma (CREST syndrome) (10701901)
2000
20
Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. (10347101)
1999
21
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. (19078387)
1999
22
Decreased nailfold capillary density in limited scleroderma with pulmonary hypertension. (9876945)
1998
23
Early assessment of pulmonary involvement in limited scleroderma. A case report. (10028872)
1998
24
Exudative pleural effusion and pleural leukocytoclastic vasculitis in limited scleroderma. (9598909)
1998
25
Clinical images: Progressive calcifications and draining lesions following staphylococcal infection in a patient with limited scleroderma. (9485097)
1998
26
Vasculitis and thrombotic thrombocytopenic purpura in a patient with limited scleroderma. (9058673)
1997
27
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). (9126027)
1997
28
Image interpretation session: 1995. Case 1. Exogenous lipoid pneumonia superimposed on systemic sclerosis with limited scleroderma (CREST syndrome). (10946703)
1996
29
Acute hemodynamic responses to inhaled nitric oxide in patients with limited scleroderma and isolated pulmonary hypertension. (8759092)
1996
30
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. (8151564)
1994
31
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. (2213757)
1990
32
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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Expression patterns in normal tissues for genes affiliated with Limited Scleroderma

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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 STAT537
9.3IL2, IL2RA
5
Show member pathways
Ras signaling in the CD4+ TCR pathway37
9.3IL2, IL2RA
6
Show member pathways
IL-2 Signaling pathway37
9.3IL2, IL2RA
7
Show member pathways
Calcium signaling in the CD4+ TCR pathway37
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
1ouabain44 1110.8CAV1, IL2RA
2glatiramer acetate44 1110.8HLA-DRB1, IL2
3mizoribine449.7IL2RA, IL2
4denileukin diftitox44 50 1111.7IL2RA, IL2
5pentostatin44 61 28 1112.7IL2RA, IL2
6bleomycin44 1110.7IL2RA, CAV1, CTGF
7c-d4t449.7IL2RA, IL2
84-ipp619.7IL2, IL2RA
9git 27619.7IL2, IL2RA
10daclizumab44 1110.7IL2RA, IL2
11basiliximab44 1110.7IL2, IL2RA
12alemtuzumab44 1110.7IL2RA, IL2
13pirfenidone44 6110.7IL2, IL2RA
14levamisole44 1110.7IL2RA, IL2
15as 10144 6110.7IL2RA, IL2
16ranitidine44 28 24 1112.6IL2, IL2RA
17mycophenolic acid44 50 1111.6IL2RA, IL2
18okt3449.6IL2RA, IL2
19con a449.6IL2, IL2RA
202-chlorodeoxyadenosine449.6IL2, IL2RA
212,5-oligoadenylate449.5IL2, IL2RA
22il 10449.5IL2, IL2RA
23mycophenolate mofetil44 50 1111.4IL2, IL2RA
24chloroquine44 2 50 28 1113.4IL2, IL2RA, CAV1
25thalidomide44 50 61 1112.4IL2, IL2RA, CAV1
26pentoxifylline44 1110.3IL2RA, IL2
27neopterin449.3IL2RA, IL2
28gold sodium thiomalate449.3HLA-DRB1, IL2, IL2RA
29rantes449.3IL2RA, IL2, CCR6
30rapamycin449.3CTGF, IL2RA, IL2
31ifn-alpha449.2IL2, IL2RA
32cyclosporin a44 28 6111.1IL2, IL2RA, CAV1, CTGF
33genistein44 28 61 2 24 1114.1CAV1, IL2RA, IL2
34dexamethasone44 50 28 1112.0IL2, IL2RA, CAV1, CTGF
35oligonucleotide448.9HLA-DRB1, CENPB, CAV1, CTGF
36pge2448.7CTGF, IL2RA, IL2
37vegf448.3CTGF, CAV1, IL2RA, IL2, CCR6, IRF5
38tyrosine448.2HLA-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: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
  • Proteins
  • Lysates

Sources for Limited Scleroderma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet