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, Kidney, Brain, Colon, Liver, Thyroid, Monocytes, Bone marrow, Small intestine, Spinal cord, Eye, B cells, Skeletal muscle, Smooth muscle, Spleen, 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:001076811.2CTGF, FBN1, FBL, TOP1, CD40LG, IL2RA
2MP:000538211.0CTGF, FBN1, IL4, TTN, CENPA, TGFB1

Publications for Scleroderma

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50PubMed
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Articles related to Scleroderma:

(show top 50)    (show all 1647)
idTitleAuthorsYear
1
Scleroderma renal crises: case report and review of literature. (23901721)
2013
2
Experiencing work as a daily challenge: the case of scleroderma. (22927612)
2013
3
Evidence-based management of hand and mouth disability in a woman living with diffuse systemic sclerosis (scleroderma). (24396157)
2013
4
Transcriptomic immune response of Tenebrio molitor pupae to parasitization by Scleroderma guani. (23342153)
2013
5
Incidence of scleroderma spectrum disorders in Slovenia. (23190708)
2013
6
Supernatants from culture of type I collagen-stimulated PBMC from patients with cutaneous systemic sclerosis versus localized scleroderma demonstrate suppression of MMP-1 by fibroblasts. (22367096)
2012
7
Lichen planus-type chronic graft-versus-host disease complicated by mucous membrane pemphigoid with positive anti-BP180/230 and scleroderma-related autoantibodies followed by reduced regulatory T cell frequency. (22217601)
2012
8
A long-term follow-up study of methotrexate in juvenile localized scleroderma (morphea). (22657157)
2012
9
Nodular/keloidal scleroderma: acquired collagenous nodules in systemic sclerosis. (22383359)
2012
10
Bronchoalveolar lavage fluid and progression of scleroderma interstitial lung disease. (21801327)
2012
11
Acute Renal Failure due to Thrombotic Microangiopathy in Patient with Scleroderma: Autopsy Case Report. (23641271)
2012
12
Cyclophosphamide-refractory scleroderma-associated interstitial lung disease: remarkable clinical and radiological response to a single course of rituximab combined with high-dose corticosteroids. (21593063)
2011
13
Retinoic acids exhibit anti-fibrotic activity through the inhibition of 5-lipoxygenase expression in scleroderma fibroblasts. (21352343)
2011
14
Long term effects of cyclophosphamide treatment on lung function and survival in scleroderma patients with interstitial lung disease. (21552414)
2011
15
Effectiveness of medium-dose ultraviolet A1 phototherapy in localized scleroderma. (21781079)
2011
16
Normotensive scleroderma renal crisis in a patient with progressive systemic sclerosis: case report and review of literature. (21476377)
2011
17
A 3-factor epistatic model predicts digital ulcers in Italian scleroderma patients. (20603050)
2010
18
Effects of estrogens on extracellular matrix synthesis in cultures of human normal and scleroderma skin fibroblasts. (20398004)
2010
19
Silent white matter lesion in linear scleroderma en coup de sabre. (18830119)
2008
20
Rho-associated kinases are crucial for myofibroblast differentiation and production of extracellular matrix in scleroderma fibroblasts. (18668558)
2008
21
Root resorption associated with mandibular bone erosion in a patient with scleroderma. (18155505)
2008
22
Elevated serum BAFF levels in patients with localized scleroderma in contrast to other organ-specific autoimmune diseases. (17222220)
2007
23
Systemic and localized scleroderma. (16966019)
2006
24
Primary esophageal melanoma in a patient with limited scleroderma. (16357719)
2005
25
Linear scleroderma 'en coup de sabre' associated with facial atrophy in a patient seropositive for Borrelia burgdorferi: a true case of molecular mimicry? (15610374)
2004
26
Linear scleroderma en coup de sabre and brain calcification: is there a pathogenic relationship? (12508412)
2003
27
Topical tacrolimus in the treatment of localized scleroderma. (14721783)
2003
28
Bronchiolitis obliterans with organizing pneumonia associated with scleroderma and scleroderma spectrum diseases. (17041464)
2003
29
Class II HLA associations with autoantibodies in scleroderma: a highly significant role for HLA-DP. (11393660)
2001
30
Circumscribed scleroderma in congenital rubella syndrome with hypogammaglobulinemia. (9821485)
1998
31
Circulatory system in children with localized scleroderma. (9142712)
1997
32
VCAM-1 expression on endothelium in lesions from cutaneous lupus erythematosus is increased compared with systemic and localized scleroderma. (8977665)
1996
33
Cutaneous scleroderma in association with carcinoid syndrome. (7596938)
1995
34
Autoepitope mapping of the centrosome autoantigen PCM-1 using scleroderma sera with anticentrosome autoantibodies. (8781714)
1995
35
Systemic administration of 2-chloro-2'-deoxyadenosine (2-CdA) in patients with systemic scleroderma. (7503631)
1994
36
Decreased bradykinin binding sites in fibroblasts from progressive systemic scleroderma. (8002664)
1994
37
ACE inhibitors for scleroderma renal crisis. (1984753)
1991
38
Toxic oil syndrome: a syndrome with features overlapping those of various forms of scleroderma. (3961509)
1986
39
Localized scleroderma evolving into systemic sclerosis. (4045867)
1985
40
Localized scleroderma 'en coup de sabre' and iridopalpebral atrophy at the same line. (6191498)
1983
41
Electron microscope study of connective tissue in systemic scleroderma using ruthenium red staining. (6183176)
1982
42
Presence of eosinophilia in progressive systemic sclerosis and localized scleroderma. (7332350)
1981
43
Circulating immune complexes in systemic scleroderma and generalized morphea. (7351267)
1980
44
Skin thickness and collagen content in progressive systemic sclerosis and localized scleroderma. (420706)
1979
45
Xanthomatosis resembling scleroderma in multiple myeloma. (581449)
1978
46
Systemic scleroderma (progressive systemic sclerosis), chemical diabetes mellitus, psoriasis. (5555861)
1971
47
Gastrointestinal involvement in systemic scleroderma. (5670091)
1968
48
Diffuse systemic scleroderma. A comparison with acrosclerosis. (13923026)
1962
49
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
50
Localized scleroderma in father and daughter. (13079320)
1953

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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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