MCID: SCL016
MIFTS: 59

Scleroderma malady

Summaries for Scleroderma

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.

MalaCards: Scleroderma, also known as dermatosclerosis, is related to systemic scleroderma and localized scleroderma. An important gene associated with Scleroderma is XYLT2 (xylosyltransferase II), and among its related pathways are GPCR Pathway and PTEN Pathway. The compounds vegf and serine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and endothelial, and related mouse phenotypes are mortality/aging and craniofacial.

Aliases & Classifications for Scleroderma

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8Disease Ontology, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

scleroderma 8 60
dermatosclerosis 8
scleroderma nos 8


Related Diseases for Scleroderma

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Systemic Scleroderma family:

Localized Scleroderma scleroderma
Juvenile Scleroderma

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

(show top 50)    (show all 338)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma31.6TOP1, CTGF
2localized scleroderma31.6IL2RA, MMP1
3hypertension30.9TGFB1
4lupus erythematosus30.9CD40LG
5systemic lupus erythematosus30.8HLA-DRB1, FBN1, FBL, TOP1, CD40LG, IL2RA
6connective tissue disease30.7CTGF, BMP6, FBN1, FBL, TOP1, CENPB
7fasciitis30.7SSSCA1
8calcinosis30.6CENPB, FBN1
9mixed connective tissue disease30.6FBN1
10dermatomyositis30.6FBN1, FBL
11skin disease30.5HLA-DRB1, IL2RA, TGFB1
12graft versus host disease30.4IL4, IL2RA, HLA-DRB1
13vasculitis30.4CD40LG
14rheumatoid arthritis30.4TOP1, HLA-DRB1, BMP6, CTGF, CD40LG, IL2RA
15arthritis30.4TGFB1, MMP1, IL4, FBN1, HLA-DRB1, CTGF
16glomerulonephritis30.4CTGF, BMP6, CD40LG, TGFB1
17pulmonary fibrosis30.3CTGF, BMP6, FBL, TOP1, MMP1, TGFB1
18breast cancer30.3CTGF, BMP6, TOP1, MMP1, TGFB1
19pneumonia30.2TGFB1
20hepatitis30.2CD40LG
21myopathy30.1TTN
22primary biliary cirrhosis30.1CENPB, CD40LG, HLA-DRB1
23hepatitis c30.0CD40LG, FBL, HLA-DRB1
24lichen planus30.0FBN1
25thyroiditis30.0HLA-DRB1
26gingivitis30.0MMP1
27diabetes mellitus29.9CTGF, HLA-DRB1, CD40LG, TGFB1
28sjogren's syndrome29.9CD40LG, IL2RA, CENPB
29myasthenia gravis29.9TTN, IL4
30uveitis29.9IL4, IL2RA
31myeloma29.9IL4, CD40LG
32arthropathy29.9MMP1
33primary pulmonary hypertension29.9FBN1, BMP6
34thrombocytopenia29.9CD40LG, TOP1
35asthma29.6TGFB1, IL4, IL2RA, HLA-DRB1, CTGF
36melanoma29.6BMP6, HLA-DRB1, TOP1, IL4, MMP1, TGFB1
37adenocarcinoma29.6CTGF, BMP6, TOP1, TGFB1
38graves' disease29.6HLA-DRB1, IL2RA, IL4
39psoriasis29.6HLA-DRB1, IL2RA, IL4
40lung adenocarcinoma29.6CTGF, BMP6, TOP1, TGFB1
41ovarian cancer29.6CTGF, BMP6, TOP1, TGFB1
42ulcerative colitis29.6HLA-DRB1, IL2RA, IL4, MMP1
43sarcoidosis29.6HLA-DRB1, IL2RA
44lung cancer29.6TOP1, TGFB1
45periodontal disease29.6MMP1
46nephrotic syndrome29.6IL2RA
47cryoglobulinemia29.6CD40LG
48rubella29.6CD40LG
49pancreatitis29.6TGFB1
50hereditary hemorrhagic telangiectasia29.6BMP6, TGFB1

Graphical network of the top 20 diseases related to Scleroderma:



Diseases related to scleroderma

Clinical Features for Scleroderma

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Drugs & Therapeutics for Scleroderma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Scleroderma

Drug clinical trials:

Search ClinicalTrials for Scleroderma

Search NIH Clinical Center for Scleroderma

Search CenterWatch for Scleroderma

Genetic Tests for Scleroderma

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Anatomical Context for Scleroderma

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32MalaCards
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MalaCards organs/tissues related to Scleroderma:

32
Skin, Lung, Endothelial, T cells, Heart, Testes, Breast, Bone, Brain, Kidney, Liver, Colon, Monocytes, Thyroid, Small intestine, Eye, Bone marrow, Spinal cord, Spleen, Smooth muscle, Skeletal muscle, B cells, Thymus

Animal Models for Scleroderma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Scleroderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076811.2TGFB1, CTGF, FBN1, FBL, TOP1, CD40LG
2MP:000538211.0FBN1, IL4, TTN, CENPA, TGFB1, CTGF

Publications for Scleroderma

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50PubMed
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Articles related to Scleroderma:

(show top 50)    (show all 1647)
idTitleAuthorsYear
1
Collagen content in skin and internal organs of the tight skin mouse: an animal model of scleroderma. (24260716)
2013
2
Hair miR-29a levels are decreased in patients with scleroderma. (24107002)
2013
3
Prospective study to evaluate the clinical and radiological outcome of patients with scleroderma of the face. (23791631)
2013
4
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. (23656799)
2013
5
Intravenous immunoglobulin treatment recovers the down-regulated levels of Th1 cytokines in the sera and skin of scleroderma patients. (23102713)
2013
6
My approach to the treatment of scleroderma. (23541012)
2013
7
Cross-cultural adaptation and validation of the Brazilian version of the Scleroderma Health Assessment Questionnaire (SHAQ). (23975361)
2013
8
Pregnancy outcome in young patient with scleroderma. (24431640)
2013
9
Nodular scleroderma presenting as multiple spontaneous keloidal scars. (22583729)
2012
10
Localized scleroderma: assessment of the therapeutic response to phototherapy. (22481652)
2012
11
Serum leptin, resistin and TNF-I+ levels in patients with systemic sclerosis: the role of adipokines in scleroderma. (22898217)
2012
12
Up-regulated expression of HLA-DRB5 transcripts and high frequency of the HLA-DRB5*01:05 allele in scleroderma patients with interstitial lung disease. (22723597)
2012
13
Regulation of integrin I+5 and I^4 in normal and scleroderma epidermal keratinocytes. (22568676)
2012
14
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. (21169848)
2011
15
Gender and ethnicity differences in the prevalence of scleroderma-related autoantibodies. (21523365)
2011
16
Methotrexate in juvenile localized scleroderma: adding to the evidence. (21305527)
2011
17
Localized scleroderma and zinc: a pilot study. (20123645)
2010
18
Sonographic evaluation of pediatric localized scleroderma: preliminary disease assessment measures. (20423513)
2010
19
The many faces of scleroderma sine scleroderma: a literature review focusing on cardiopulmonary complications. (19247661)
2009
20
Combined analysis of monocyte and lymphocyte messenger RNA expression with serum protein profiles in patients with scleroderma. (18438864)
2008
21
Neurologic manifestations of localized scleroderma: a case report and literature review. (18981376)
2008
22
Scleroderma-like acute renal crisis in a patient with scleromyxedema. (17389621)
2007
23
Ultrasonography is a sensitive tool for monitoring localized scleroderma. (17526926)
2007
24
Possible implication of the effector CD4+ T-cell subpopulation TH17 in the pathogenesis of systemic scleroderma. (17848933)
2007
25
Transfer RNA-associated anti-Wa antibody in patients with scleroderma and the target antigen NEFA/Nucleobindin-2]. (17603255)
2007
26
Contribution of activin receptor-like kinase 5 (transforming growth factor beta receptor type I) signaling to the fibrotic phenotype of scleroderma fibroblasts. (16575856)
2006
27
Differential effects of the immunosuppressant FK-506 on human alpha2(I) collagen gene expression and transforming growth factor beta signaling in normal and scleroderma fibroblasts. (15818662)
2005
28
A case of scleroderma-polymyositis overlap syndrome in which octreotide exacerbated abdominal symptoms]. (15744122)
2005
29
Anti-agalactosyl immunoglobulin G antibodies in localized scleroderma. (16207181)
2005
30
Pellucid marginal degeneration and scleroderma. (15186210)
2004
31
Diffuse scleroderma occurring after the use of paclitaxel for ovarian cancer. (12605319)
2003
32
Antitopoisomerase I antibody in patients with systemic lupus erythematosus/sicca syndrome without a concomitant scleroderma: two case reports. (12605324)
2003
33
Scleroderma subsets are best detected by the simultaneous analysis of the autoantibody profile using commercial ELISA. (11834846)
2002
34
Pitting oedema in early diffuse systemic scleroderma. (11688491)
2001
35
Severe wrist contracture in a child with linear scleroderma. (11601589)
2001
36
A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. (10651089)
1999
37
Effectiveness of topical calcitriol for localized scleroderma. (9918276)
1999
38
Progressive multifocal leukoencephalopathy in a 15-year-old boy with scleroderma and secondary amyloidosis. (9832587)
1998
39
Growth regulation in scleroderma fibroblasts: increased response to transforming growth factor-beta 1. (7615966)
1995
40
Increased expression of lysyl oxidase in skin with scleroderma. (8555021)
1995
41
Lichen planus presenting with erythema-multiforme-like bullous lesions in a patient with systemic scleroderma. (7727839)
1995
42
Tumor necrosis factor-alpha (TNF-alpha), interferon-alpha (IFN-alpha) and interferon-gamma (IFN-gamma) receptors on human normal and scleroderma dermal fibroblasts in vitro. (1318071)
1992
43
Association of scleroderma with a T cell antigen receptor gamma gene restriction fragment length polymorphism. (1970246)
1990
44
Mast cell numbers in diffuse scleroderma. (3813593)
1987
45
Linear scleroderma. Clinical spectrum, prognosis, and laboratory abnormalities. (3486617)
1986
46
Scleromyxedema associated with scleroderma renal disease and acute psychosis. (3086390)
1986
47
Uncommon association--pre-senile cataract with scleroderma. (4044486)
1985
48
Collagen metabolites in urine in localized scleroderma (morphoea). (6084927)
1984
49
CHRONIC DISEASE OF THE LIVER ASSOCIATED WITH SYSTEMIC SCLERODERMA. (14102687)
1964
50
Localized scleroderma; a clinical study of two hundred thirty-five cases. (13371921)
1956

Genetic Variations for Scleroderma

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Expression for genes affiliated with Scleroderma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scleroderma

Search GEO for disease gene expression data for Scleroderma.

Pathways for genes affiliated with Scleroderma

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51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 52R&D Systems
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Pathways related to Scleroderma according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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11.0CTGF, BMP6, HLA-DRB1, IL2RA, MMP1, TGFB1
2
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10.9CTGF, BMP6, FBN1, IL2RA, TGFB1
3
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10.9CTGF, BMP6, IL2RA, IL4, TGFB1
4
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10.9BMP6, IL2RA, IL4, TGFB1, CTGF
5
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10.8TGFB1, IL4, CD40LG, HLA-DRB1
6
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10.8HLA-DRB1, CD40LG, IL2RA, IL4
7
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10.8CTGF, BMP6, IL2RA, TGFB1
810.7TGFB1, IL2RA, HLA-DRB1
9
Hide members
10.7IL4, IL2RA, CD40LG
1010.7CD40LG, IL2RA, IL4
11
Hide members
10.7IL4, IL2RA, HLA-DRB1
1210.7HLA-DRB1, IL2RA, IL4
13
Hide members
10.6IL2RA
1410.6IL4
1510.6HLA-DRB1

Compounds for genes affiliated with Scleroderma

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Scleroderma according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1vegf4411.5CD40LG, BMP6, CTGF, MMP1, IL2RA, TGFB1
2serine4411.5XYLT2, MMP1, TTN, TGFB1, FBN1, CTGF
3bleomycin44 1112.5TGFB1, BMP6, IL4, IL2RA, CTGF, TOP1
4aspirin44 49 28 2414.5CD40LG, IL2RA, IL4, MMP1, TGFB1, BMP6
5doxorubicin44 49 1113.4IL2RA, CD40LG, BMP6, MMP1, TGFB1, TOP1
6cysteine4411.4FBN1, CD40LG, IL2RA, IL4, MMP1, TTN
7heparin44 28 11 2414.4TOP1, FBN1, CD40LG, IL2RA, BMP6, CTGF
8hydroxyproline44 11 2413.4CTGF, BMP6, MMP1, FBN1, TGFB1
9rantes4411.4TGFB1, BMP6, CD40LG, IL2RA, IL4
10tgf beta14411.4BMP6, TGFB1, MMP1, CTGF, FBN1
11herbimycin a44 5912.3IL4, IL2RA, BMP6, MMP1, CD40LG
12formaldehyde44 2412.3MMP1, TGFB1, IL2RA, CD40LG, TOP1
13hyaluronic acid44 2412.3MMP1, TGFB1, CD40LG, FBN1, BMP6
14calcitriol44 59 11 2414.3IL4, IL2RA, MMP1, TGFB1, BMP6
15methotrexate44 49 1113.3TGFB1, HLA-DRB1, MMP1, BMP6, IL2RA
16n acetylcysteine4411.3CD40LG, IL4, MMP1, IL2RA, CTGF
17cyclosporin a44 28 5913.3IL2RA, MMP1, CD40LG, CTGF
18sb 20358044 5912.3BMP6, IL4, CTGF, TGFB1, MMP1
19okt34411.3CD40LG, IL2RA, BMP6, IL4
20creatinine4411.3BMP6, TGFB1, TTN, MMP1
21il 104411.3IL4, IL2RA, BMP6, TGFB1
22oligonucleotide4411.2BMP6, HLA-DRB1, CENPB, MMP1, TGFB1, CTGF
23dexamethasone44 49 28 1114.2CTGF, BMP6, CD40LG, TGFB1
24histamine44 28 2413.2BMP6, TGFB1, CD40LG, IL4, IL2RA
25rapamycin4411.2BMP6, CTGF, MMP1, IL2RA, CD40LG
26losartan44 49 28 1114.2MMP1, CTGF, BMP6, TGFB1
27polyethylene glycol4411.2IL4, BMP6, TGFB1, CD40LG
28actinomycin d4411.2TGFB1, IL4, TOP1, FBL, CD40LG
29arginine4411.2HLA-DRB1, FBL, CD40LG, IL2RA, FBN1, IL4
30paraffin4411.2IL4, MMP1, CD40LG, IL2RA, TGFB1
31alpha tocopherol4411.2MMP1, CTGF, IL4, IL2RA
32uva 14411.2IL2RA, MMP1, BMP6
33glycosaminoglycan4411.2XYLT2, MMP1, TGFB1, BMP6
34atorvastatin44 49 28 11 2415.2CD40LG, IL2RA, MMP1, BMP6
35pentoxifylline44 1112.2BMP6, MMP1, IL4
36nifedipine44 49 28 1114.1TGFB1, CTGF, IL2RA, BMP6
37pmma4411.1CD40LG, BMP6, TGFB1
38paclitaxel44 49 1113.1TGFB1, TOP1, BMP6
39lactate4411.0TGFB1, MMP1, CD40LG, BMP6, CTGF
40tacrolimus44 49 1113.0TGFB1, IL4, IL2RA, BMP6
41pge24411.0TGFB1
42mycophenolate mofetil44 49 1113.0CD40LG, MMP1, IL2RA
43procollagen4411.0TGFB1
44pirfenidone44 5911.9BMP6
45cisplatin44 49 59 1113.9BMP6, CD40LG, TOP1, TGFB1, IL2RA
46infliximab44 49 1112.9IL2RA, IL4, MMP1
47ribavirin44 49 1112.8IL4, MMP1, CD40LG
48erythromycin44 49 2 1113.7IL2RA, TGFB1
49ivig4410.5CD40LG
50amiloride44 28 1112.4IL4, CTGF, TGFB1

GO Terms for genes affiliated with Scleroderma

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16Gene Ontology
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Cellular components related to Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00989710.9IL4, IL2RA, CD40LG, HLA-DRB1
2proteinaceous extracellular matrixGO:00557810.7CTGF, FBN1, MMP1, TGFB1
3extracellular spaceGO:00561510.7CTGF, BMP6, FBN1, CD40LG, IL4, TGFB1
4nuclear exosome (RNase complex)GO:00017610.7EXOSC10, EXOSC9
5exosome (RNase complex)GO:00017810.7EXOSC10, EXOSC9

Biological processes related to Scleroderma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1immune responseGO:00695511.0EXOSC9, BMP6, HLA-DRB1, IL2RA, IL4
2negative regulation of T cell proliferationGO:04213010.9TGFB1, IL2RA, HLA-DRB1
3nuclear polyadenylation-dependent rRNA catabolic processGO:07103510.8EXOSC10, EXOSC9
4nuclear mRNA surveillanceGO:07102810.7EXOSC9, EXOSC10
5inflammatory response to antigenic stimulusGO:00243710.7IL2RA, HLA-DRB1
6nuclear-transcribed mRNA catabolic processGO:00095610.7EXOSC10, EXOSC9
7negative regulation of immune responseGO:05077710.6TGFB1, IL2RA
8positive regulation of T cell differentiationGO:04558210.4IL4, IL2RA

Molecular functions related to Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exoribonuclease activityGO:00453210.7EXOSC10, EXOSC9
2growth factor activityGO:00808310.5TGFB1, IL4, BMP6, CTGF

Products for genes affiliated with Scleroderma

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  • Antibodies
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Sources for 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet