MCID: LMT001
MIFTS: 58

Limited Scleroderma malady

Neuronal diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases categories

Summaries for Limited Scleroderma

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Limited Scleroderma, also known as crest syndrome, is related to pulmonary fibrosis and systemic scleroderma, and has symptoms including autoimmunity/autoimmune reaction/autoantibodies, irregular/patchy skin hypopigmentation and telangiectasiae of mucosae. 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 IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types. The compounds cyclosporin a and mizoribine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and smooth muscle, and related mouse phenotype cellular.

Wikipedia:63 CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc) is a multisystem... more...

Description from OMIM:46 181750

Aliases & Classifications for Limited Scleroderma

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 46OMIM, 60UMLS, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42
crest syndrome 42 44 48 46 60
limited cutaneous systemic scleroderma 42 48
limited cutaneous systemic sclerosis 8 48
systemic sclerosis sine scleroderma 48 60
calcinosis, raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome 42
calcinosis - raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia 48
calcinosis-raynaud phenomenon-sclerodactyly-telangiectasia 42
systemic sclerosis, limited 8
limited systemic sclerosis 48
scleroderma, limited 60


External Ids:

Disease Ontology8 DOID:1577
MeSH34 D045745
ICD10 via Orphanet26 M34.1, M34.0
SNOMED-CT via Orphanet57 298285004, 299276009, 128461001 31848007, more
OMIM46 181750
MESH via Orphanet35 D017675
UMLS via Orphanet61 C0206138

Related Diseases for Limited Scleroderma

About this section
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 128)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary fibrosis30.8CAV1, CTGF
2systemic scleroderma30.4CENPB, CTGF, IRF5
3liver cirrhosis30.2CTGF, CAV1, HLA-DRB1
4systemic lupus erythematosus30.2IL2RA, HLA-DRB1, IL2, CENPB, IRF5
5thyroiditis30.2HLA-DRB1
6glaucoma30.1CTGF
7arthritis30.0CTGF, HLA-DRB1
8leukemia30.0HLA-DRB1, IL2, CAV1, IL2RA, CCR6
9rheumatoid arthritis30.0IL2, CENPB, CENPA, HLA-DRB1, CTGF, IRF5
10myasthenia gravis30.0IL2
11glomerulonephritis30.0CTGF
12sjogren's syndrome30.0CENPB, CENPC, IL2RA
13uveitis29.9IL2RA
14connective tissue disease29.9HLA-DRB1, IL2RA, IL2
15scleroderma10.7
16sine scleroderma10.5
17diffuse scleroderma10.3
18hypertension10.3
19antiphospholipid syndrome10.3
20wolff-parkinson-white syndrome10.3
21vitiligo10.3
22dermatomyositis10.3
23nephrotic syndrome10.3
24telangiectasis10.2
25pericardial effusion10.2
26crescentic glomerulonephritis10.2
27bronchiolitis obliterans organizing pneumonia10.2
28bronchiolitis obliterans10.2
29bronchiolitis10.2
30pulmonary systemic sclerosis10.2
31neuromyelitis optica10.2
32cutaneous lupus erythematosus10.2
33achalasia10.2
34spinal stenosis10.2
35gastric antral vascular ectasia10.2
36aplastic anemia10.2
37lupus erythematosus10.2
38mononeuritis10.2
39vascular disease10.2
40primary biliary cirrhosis10.2
41vasculitis10.2
42ectropion10.1
43granulomatous dermatitis10.0
44pneumatosis cystoides intestinalis10.0
45trigeminal neuralgia10.0
46dermatitis10.0
47arteriovenous fistula10.0
48primary pulmonary hypertension10.0
49thrombotic thrombocytopenic purpura10.0
50pemphigus10.0

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



Diseases related to limited scleroderma

Clinical Features for Limited Scleroderma

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

181750

Clinical synopsis from OMIM:

181750

Symptoms:

48 (show all 24)
  • autoimmunity/autoimmune reaction/autoantibodies
  • irregular/patchy skin hypopigmentation
  • telangiectasiae of mucosae
  • periarticular tissue anomaly/extraarticular calcifications
  • pulmonary hypertension
  • abnormal scarring/cheloids/hypertrophic scars
  • 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
  • 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
  • tight skin/lack of elasticity
  • 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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Limited Scleroderma

Drug clinical trials:

Search ClinicalTrials for Limited Scleroderma

Search NIH Clinical Center for Limited Scleroderma

Search CenterWatch for Limited Scleroderma

Genetic Tests for Limited Scleroderma

About this section

Anatomical Context for Limited Scleroderma

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Limited Scleroderma:

32
Skin, Lung, Smooth muscle, Skeletal muscle, Kidney, Bone, Thyroid, T cells

Animal Models for Limited Scleroderma or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Limited Scleroderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053846.9CENPC, CENPA, CENPB, IL2, IL2RA, CTGF

Publications for Limited Scleroderma

About this section
Sources:
50PubMed
See all sources

Articles related to Limited Scleroderma:

(show all 36)
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

Genetic Variations for Limited Scleroderma

About this section

Expression for genes affiliated with Limited Scleroderma

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 52R&D Systems, 29KEGG, 51QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 53Reactome
See all sources

Compounds for genes affiliated with Limited Scleroderma

About this section
Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
See all sources

Compounds related to Limited Scleroderma according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1cyclosporin a44 28 5912.0IL2RA, CTGF
2mizoribine4410.0IL2, IL2RA
3denileukin diftitox44 49 1112.0IL2, IL2RA
4pentostatin44 59 28 1113.0IL2, IL2RA
5c-d4t449.9IL2, IL2RA
64-ipp599.9IL2RA, IL2
7glatiramer acetate44 1110.9HLA-DRB1, IL2
8git 27599.9IL2RA, IL2
9daclizumab44 1110.9IL2, IL2RA
10basiliximab44 1110.8IL2RA, IL2
11bleomycin44 1110.8CAV1, CTGF, IL2RA
12gold sodium thiomalate449.8IL2, IL2RA, HLA-DRB1
13alemtuzumab44 1110.8IL2, IL2RA
14levamisole44 1110.7IL2RA, IL2
15ranitidine44 28 11 2412.7IL2, IL2RA
16thalidomide44 49 59 1112.7IL2, IL2RA, CAV1
17chloroquine44 2 49 28 1113.7CAV1, IL2RA, IL2
18as 10159 4410.6IL2, IL2RA
19vegf448.8CCR6, CAV1, IRF5, CTGF, IL2RA, IL2
20tyrosine448.2CAV1, IRF5, CTGF, HLA-DRB1, IL2RA, IL2

GO Terms for genes affiliated with Limited Scleroderma

About this section
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:0024379.7IL2RA, HLA-DRB1
4kinetochore assemblyGO:0513829.5CENPC, CENPA
5positive regulation of activated T cell proliferationGO:0421049.4IL2, IL2RA
6immune responseGO:0069559.1CCR6, HLA-DRB1, IL2RA, IL2

Products for genes affiliated with Limited Scleroderma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limited Scleroderma

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet