MCID: LMT001
MIFTS: 52

Limited Scleroderma malady

Neuronal, Nephrological, Respiratory, Bone, Skin categories

Summaries for Limited Scleroderma

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 systemic scleroderma and systemic lupus erythematosus, 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 HLA-DRB1 (major histocompatibility complex, class II, DR beta 1), and among its related pathways are Cytokines and Inflammatory Response and Inflammatory Response Pathway. The compounds cyclosporin a and mizoribine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, skeletal muscle and lung, and related mouse phenotypes are growth/size and cellular.

Wikipedia:64 The limited cutaneous form of systemic sclerosis (lcSSc) is often referred to as CREST syndrome.... more...

Description from OMIM:47 181750

Aliases & Classifications for Limited Scleroderma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 36MESH via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Nephrological, Respiratory, Bone, Skin


Characteristics (Orphanet epidemiological data):

49
limited cutaneous systemic scleroderma:
Inheritance: 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: 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 61
limited cutaneous systemic scleroderma 43 49
limited cutaneous systemic sclerosis 8 49
systemic sclerosis sine scleroderma 49 61
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 61


External Ids:

Disease Ontology8 DOID:1577
MeSH35 D045745
ICD10 via Orphanet26 M34.1, M34.0
SNOMED-CT via Orphanet58 299276009, 31848007
OMIM47 181750
MESH via Orphanet36 D017675
UMLS via Orphanet62 C0206138

Related Diseases for Limited Scleroderma

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma30.4CENPB, CTGF, IRF5
2systemic lupus erythematosus30.3CENPB, IL2RA, HLA-DRB1, IL2, IRF5
3arthritis30.1CTGF, HLA-DRB1
4sjogren's syndrome30.0IL2RA, CENPC, CENPB
5uveitis29.9IL2RA
6sine scleroderma11.1
7cutaneous sclerosis10.8
8antiphospholipid syndrome10.3
9wolff-parkinson-white syndrome10.3
10vitiligo10.3
11amyopathic dermatomyositis10.3
12linear scleroderma10.3
13polymyositis10.3
14diffuse scleroderma10.3
15telangiectasis10.3
16nodular regenerative hyperplasia10.3
17crescentic glomerulonephritis10.2
18bronchiolitis obliterans organizing pneumonia10.2
19bronchiolitis obliterans10.2
20bronchiolitis10.2
21pulmonary systemic sclerosis10.2
22neuromyelitis optica10.2
23cutaneous lupus erythematosus10.2
24achalasia10.2
25spinal stenosis10.2
26gastric antral vascular ectasia10.2
27n syndrome10.2
28aplastic anemia10.2
29vascular disease10.2
30microscopic polyangiitis10.2
31neuromyelitis optica spectrum disorder10.2
32diffuse alveolar hemorrhage10.2
33discoid lupus erythematosus10.2
34primary biliary cirrhosis10.2
35vasculitis10.2
36glaucoma, congenital10.1
37granulomatous dermatitis10.1
38pneumatosis cystoides intestinalis10.1
39trigeminal neuralgia10.1
40primary pulmonary hypertension10.0
41thrombotic thrombocytopenic purpura10.0
42pemphigus10.0
43pemphigus foliaceus10.0
44image syndrome10.0
45pauci-immune glomerulonephritis10.0
46hemophagocytic lymphohistiocytosis10.0IL2RA
47farmer's lung10.0IL2RA
48inflammatory bowel disease10.0IL2
49periapical granuloma10.0IL2RA
50polymyalgia rheumatica10.0HLA-DRB1

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



Diseases related to limited scleroderma

Clinical Features for Limited Scleroderma

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

181750

Clinical synopsis from OMIM:

181750

Symptoms:

49 (show all 24)
  • 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
  • abnormal scarring/cheloids/hypertrophic scars
  • cutaneous edema
  • tight skin/lack of elasticity
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction

Drugs & Therapeutics for Limited Scleroderma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Limited Scleroderma

Search CenterWatch for Limited Scleroderma

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

Sources:
33MalaCards
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MalaCards organs/tissues related to Limited Scleroderma:

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

Animal Models for Limited Scleroderma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Limited Scleroderma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.5CAV1, CTGF, IL2RA, IL2, CENPB, CENPA
2MP:00053846.9CAV1, IRF5, CTGF, IL2RA, IL2, CENPB

Publications for Limited Scleroderma

Sources:
51PubMed
See all sources

Articles related to Limited Scleroderma:

(show all 37)
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
MicroRNA expression abnormalities in limited cutaneous scleroderma and diffuse cutaneous scleroderma. (22307526)
2012
5
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. (21169848)
2011
6
Fingertip calcinosis cutis in an incomplete limited-type systemic scleroderma. (21708515)
2011
7
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. (21417550)
2011
8
Extensive calcinosis cutis in limited cutaneous scleroderma. (19966192)
2009
9
Pneumatosis intestinalis in limited scleroderma. (18260164)
2008
10
Clinically significant interstitial lung disease in limited scleroderma: histopathology, clinical features, and survival. (18403656)
2008
11
Effects of olopatadine in limited scleroderma with peripheral eosinophils. (18822005)
2008
12
Association of increased telomere lengths in limited scleroderma, with a lack of age-related telomere erosion. (18662931)
2008
13
Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula. (17222301)
2007
14
Lack of increased expression of cell surface markers for circulating fibrocyte progenitors in limited scleroderma. (17061153)
2007
15
Distinct recognition of antibodies to centromere proteins in primary Sjogren's syndrome compared with limited scleroderma. (16414973)
2006
16
Calcinosis universalis in systemic sclerosis with limited scleroderma. (15789907)
2005
17
Primary esophageal melanoma in a patient with limited scleroderma. (16357719)
2005
18
Association of limited scleroderma and pulmonary hypertension in a patient with primary biliary cirrhosis. (16113494)
2005
19
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
20
Pentoxyfilline treatment does not influence the plasma levels of IL-2 and sIL-2R in limited scleroderma patients. (11257736)
2001
21
Myasthenia gravis associated with limited scleroderma (CREST syndrome) (10701901)
2000
22
Diffuse and limited cutaneous systemic scleroderma. (10990182)
2000
23
Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. (10347101)
1999
24
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. (19078387)
1999
25
Decreased nailfold capillary density in limited scleroderma with pulmonary hypertension. (9876945)
1998
26
Early assessment of pulmonary involvement in limited scleroderma. A case report. (10028872)
1998
27
Exudative pleural effusion and pleural leukocytoclastic vasculitis in limited scleroderma. (9598909)
1998
28
Clinical images: Progressive calcifications and draining lesions following staphylococcal infection in a patient with limited scleroderma. (9485097)
1998
29
Vasculitis and thrombotic thrombocytopenic purpura in a patient with limited scleroderma. (9058673)
1997
30
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). (9126027)
1997
31
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. (8989070)
1996
32
Image interpretation session: 1995. Case 1. Exogenous lipoid pneumonia superimposed on systemic sclerosis with limited scleroderma (CREST syndrome). (10946703)
1996
33
Acute hemodynamic responses to inhaled nitric oxide in patients with limited scleroderma and isolated pulmonary hypertension. (8759092)
1996
34
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. (8151564)
1994
35
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. (2213757)
1990
36
Development of severe limited scleroderma in complicated Raynaud's phenomenon after limb immobilization: report of two cases and study of collagen biosynthesis. (3753543)
1986
37
Sclerodermatous graft-versus-host disease limited to an area of measles exanthem. (76022)
1978

Genetic Variations for Limited Scleroderma

Expression for genes affiliated with Limited Scleroderma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 53R&D Systems, 30KEGG, 52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 54Reactome
See all sources

Compounds for genes affiliated with Limited Scleroderma

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 2BitterDB, 24HMDB
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Compounds related to Limited Scleroderma according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1cyclosporin a45 29 6012.1CTGF, IL2RA
2mizoribine4510.0IL2, IL2RA
3denileukin diftitox45 50 1112.0IL2, IL2RA
4pentostatin45 60 29 1113.0IL2, IL2RA
5c-d4t4510.0IL2, IL2RA
6glatiramer acetate45 1110.9HLA-DRB1, IL2
7git 27609.9IL2, IL2RA
84-ipp609.9IL2, IL2RA
9daclizumab45 1110.9IL2, IL2RA
10basiliximab45 1110.9IL2RA, IL2
11alemtuzumab45 1110.8IL2, IL2RA
12bleomycin45 1110.8CAV1, CTGF, IL2RA
13gold sodium thiomalate459.8IL2, IL2RA, HLA-DRB1
14levamisole45 1110.7IL2, IL2RA
15mycophenolic acid45 50 1111.7IL2, IL2RA
16thalidomide45 50 60 1112.7IL2, IL2RA, CAV1
17chloroquine45 2 50 29 1113.7CAV1, IL2RA, IL2
18as 10160 4510.6IL2RA, IL2
19ranitidine45 29 11 2412.4IL2, IL2RA
20vegf459.0CAV1, IRF5, CTGF, IL2RA, IL2
21tyrosine458.5CAV1, IRF5, CTGF, HLA-DRB1, IL2RA, IL2

GO Terms for genes affiliated with Limited Scleroderma

Sources:
16Gene Ontology
See all sources

Cellular components related to Limited Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1condensed nuclear chromosome, centromeric regionGO:0007809.4CENPC, CENPA

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of T cell proliferationGO:0421309.8IL2RA, HLA-DRB1
2regulation of T cell homeostatic proliferationGO:0460139.8IL2, IL2RA
3inflammatory response to antigenic stimulusGO:0024379.7HLA-DRB1, IL2RA
4kinetochore assemblyGO:0513829.4CENPC, CENPA
5positive regulation of activated T cell proliferationGO:0421049.4IL2, IL2RA

Products for genes affiliated with Limited Scleroderma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limited Scleroderma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet