MCID: SCL016
MIFTS: 64

Scleroderma malady

Genetic diseases, Immune diseases, Skin diseases, Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases categories

Summaries for Scleroderma

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9Disease Ontology, 34MalaCards
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Disease Ontology:9 A rheumatic disease and collagen 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 localized scleroderma and systemic scleroderma. An important gene associated with Scleroderma is XYLT2 (xylosyltransferase II), and among its related pathways are IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types and IL12 signaling mediated by STAT4. The compounds amiloride and erythromycin have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and endothelial, and related mouse phenotypes are craniofacial and renal/urinary system.

Aliases & Classifications for Scleroderma

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9Disease Ontology, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:



Aliases & Descriptions:

scleroderma 9 63
dermatosclerosis 9
scleroderma nos 9


Related Diseases for Scleroderma

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Sources:
18GeneCards, 19GeneDecks
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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 336)
idRelated DiseaseScoreTop Affiliating Genes
1localized scleroderma31.7IL2RA, MMP1
2systemic scleroderma31.6CTGF, TOP1
3polymyositis30.7FBL, TTN
4systemic lupus erythematosus30.6FBL, CD40LG, IL2RA, IL4, TOP1, IRF5
5connective tissue disease30.6FBN1, TGFB1, IL4, IL2RA, CD40LG
6glomerulonephritis30.5CD40LG, CTGF, TGFB1
7keloids30.3MMP1, TGFB1, CTGF
8arthritis30.3FBN1, TGFB1, MMP1, IL4, CTGF
9pulmonary fibrosis30.2TGFB1, CTGF, COL1A1, TOP1, MMP1, FBL
10skin disease30.2IL4, MMP1, CTGF
11rheumatoid arthritis30.1CTGF, IL4, TOP1, IL2RA, CD40LG, MMP1
12sjogren's syndrome30.0IL2RA, CD40LG
13diabetes mellitus30.0TGFB1, CD40LG, CTGF
14hepatitis c30.0TGFB1, MMP1, IL4, CD40LG
15rheumatic disease29.7CD40LG, IL2RA, TOP1
16asthma29.6TGFB1, CTGF, IL2RA, IL4
17ulcerative colitis29.5MMP1, IL4, IL2RA
18linear scleroderma10.9
19diffuse scleroderma10.8
20sine scleroderma10.7
21limited scleroderma10.6
22hypertension10.6
23lupus erythematosus10.6
24interstitial lung disease10.5
25fasciitis10.5
26eosinophilic fasciitis10.5
27calcinosis10.5
28mixed connective tissue disease10.4
29juvenile scleroderma10.4
30dermatomyositis10.4
31endotheliitis10.4
32esophagitis10.4
33graft versus host disease10.3
34facial hemiatrophy10.3
35vasculitis10.3
36melorheostosis10.3
37crescentic glomerulonephritis10.3
38breast cancer10.2
39myositis10.2
40reynolds syndrome10.2
41pneumonia10.2
42porphyria10.2
43purpura10.2
44carcinoid syndrome10.2
45scleredema10.2
46scleromyxedema10.2
47blindness10.2
48porphyria cutanea tarda10.2
49cerebritis10.2
50vitiligo10.2

Graphical network of the top 20 diseases related to Scleroderma:



Diseases related to scleroderma

Symptoms for Scleroderma

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Drugs & Therapeutics for Scleroderma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Scleroderma:

34
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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38MGI
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Publications for Scleroderma

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53PubMed
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Articles related to Scleroderma:

(show top 50)    (show all 1633)
idTitleAuthorsYear
1
microRNA-7 down-regulation mediates excessive collagen expression in localized scleroderma. (22965811)
2013
2
Collagen content in skin and internal organs of the tight skin mouse: an animal model of scleroderma. (24260716)
2013
3
Scleroderma mimics. (22131103)
2012
4
Localized periodontal ligament space widening as the only presentation of scleroderma--reliability recheck. (22707333)
2012
5
Nodular scleroderma presenting as multiple spontaneous keloidal scars. (22583729)
2012
6
Effect of topical interferon-I^ gene therapy using gemini nanoparticles on pathophysiological markers of cutaneous scleroderma in Tsk/+ mice. (22071972)
2012
7
A convenient method for producing the bleomycin-induced mouse model of scleroderma by weekly injections using a methylcellulose gel. (21448642)
2012
8
Case of juvenile localized scleroderma with joint sclerosis and SjAPgren's syndrome in a child with precocious puberty. (21658114)
2011
9
Measures of systemic sclerosis (scleroderma): Health Assessment Questionnaire (HAQ) and Scleroderma HAQ (SHAQ), physician- and patient-rated global assessments, Symptom Burden Index (SBI), University of California, Los Angeles, Scleroderma Clinical Trials Consortium Gastrointestinal Scale (UCLA SCTC GIT) 2.0, Baseline Dyspnea Index (BDI) and Transition Dyspnea Index (TDI) (Mahler's Index), Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR), and Raynaud's Condition Score (RCS). (22588774)
2011
10
Letter to the editor regarding JAPrg Christoph Prinz et al. "The Nessos shirt: did Herakles die from scleroderma?" in J Dtsch Dermatol Ges 2011; 9: 336-7. (21910264)
2011
11
Dihydrosphingosine 1-phosphate has a potent antifibrotic effect in scleroderma fibroblasts via normalization of phosphatase and tensin homolog levels. (20309867)
2010
12
A 3-factor epistatic model predicts digital ulcers in Italian scleroderma patients. (20603050)
2010
13
A rare case of frontal linear scleroderma (en coup de sabre) with intra-oral and dental involvement. (20339416)
2010
14
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
15
Immunohistochemical characterization of the cellular infiltrate in localized scleroderma. (18412858)
2008
16
Elevated serum BAFF levels in patients with localized scleroderma in contrast to other organ-specific autoimmune diseases. (17222220)
2007
17
Absence of cutaneous TNFalpha-producing CD4+ T cells and TNFalpha may allow for fibrosis rather than epithelial cytotoxicity in murine sclerodermatous graft-versus-host disease, a model for human scleroderma. (17429441)
2007
18
Simultaneous occurrence of linear scleroderma and homolateral segmental vitiligo. (16405610)
2006
19
A case of severe sclerodermatous chronic graft-versus-host disease: exposure to cement containing abundant silica may have been a relevant factor in scleroderma-like skin changes. (16043910)
2005
20
Calcinosis universalis in systemic sclerosis with limited scleroderma. (15789907)
2005
21
Scleroderma-like lesions in the course of autoimmune hepatitis. Case report]. (16334539)
2005
22
Transcriptional inhibition of type I collagen gene expression in scleroderma fibroblasts by the antineoplastic drug ecteinascidin 743. (12881530)
2003
23
Linear scleroderma en coup de sabre and brain calcification: is there a pathogenic relationship? (12508412)
2003
24
Evaluation of medium-dose UVA1 phototherapy in localized scleroderma with the cutometer and fast Fourier transform method. (14571073)
2003
25
Localized and systemic scleroderma show different histological responses to methotrexate therapy. (11276011)
2001
26
Increased alpha2-adrenergic constriction of isolated arterioles in diffuse scleroderma. (10943881)
2000
27
Systemic sclerosis sine scleroderma: comment on the article by Poormoghim et al. (11083297)
2000
28
Up-regulation of class II major histocompatibility complex and intercellular adhesion molecule 1 expression on scleroderma fibroblasts and endothelial cells by interferon-gamma and tumor necrosis factor alpha in the early disease stage. (9082943)
1997
29
Double-blind, placebo-controlled study of intralesional interferon gamma for the treatment of localized scleroderma. (9091475)
1997
30
Systemic scleroderma associated with Graves' disease. (9037923)
1996
31
Treatment of severe forms of localized scleroderma with oral corticosteroids: follow-up study on 17 patients. (8179352)
1994
32
Borrelia burgdorferi and localized scleroderma. (7954205)
1994
33
Increased mitogenic activity of scleroderma serum: inhibitory effect of human recombinant interferon-gamma. (7826142)
1994
34
Eosinophilic fasciitis in children frequently progresses to scleroderma-like cutaneous fibrosis. (8441144)
1993
35
Connective tissue metabolism including cytokines in scleroderma. (1457283)
1992
36
Connective tissue metabolism including cytokines in scleroderma. (1772750)
1991
37
Circulating androgens in male patients suffering from systemic scleroderma. (1929551)
1991
38
Isolation and characterization of cDNA encoding the 80-kDa subunit protein of the human autoantigen Ku (p70/p80) recognized by autoantibodies from patients with scleroderma-polymyositis overlap syndrome. (2308937)
1990
39
Association of scleroderma with a T cell antigen receptor gamma gene restriction fragment length polymorphism. (1970246)
1990
40
Type III collagen aminopropeptide and laminin P1 levels in serum of patients with silicosis-associated and idiopathic systemic scleroderma. (2117968)
1990
41
Juvenile linear scleroderma associated with serologic abnormalities. (3876808)
1985
42
Treatment of localized scleroderma and lichen sclerosus with etretinate. (6203311)
1984
43
Activation of fibroblasts induced by mononuclear cells from patients with systemic scleroderma and inactivation by mitogen stimulation. (6840370)
1983
44
Transcutaneous electrical nerve stimulation and extensor splint in linear scleroderma knee contracture. (6972203)
1981
45
Concurrent localized scleroderma and discoid lupus erythematosus. Cutaneous 'mixed' or 'overlap' syndrome. (718182)
1978
46
Eosinophilic fasciitis: a scleroderma-like illness. (576278)
1977
47
Linear scleroderma with hemiatrophy: report of three cases associated with collagen-vascular disease. (5907143)
1966
48
Recurrent spontaneous pneumothorax in diffuse scleroderma. Report of a case. (5907810)
1966
49
Scleroderma associated with osteopoikilosis. (13486973)
1958
50
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957

Variations for Scleroderma

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Expression for genes affiliated with Scleroderma

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2BioGPS, 16Gene 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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51PathCards, 55R&D Systems, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology, 54QIAGEN, 56Reactome
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Pathways related to Scleroderma according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9TGFB1, IL2RA
29.9IL2RA, TGFB1
39.8IL4, TGFB1
49.8IL4, TGFB1
59.8IL4, TGFB1
69.8TGFB1, MMP1
79.8CD40LG, IL4
89.7TGFB1, COL1A1, IRF5
9
Show member pathways
9.5CD40LG, IL4, TGFB1
10
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.5CD40LG, IL4, TGFB1
119.5IRF5, IL2RA, IL4
129.5COL1A1, CD40LG, IL4
13
Show member pathways
Calcium signaling in the CD4+ TCR pathway39
9.4IL2RA, IL4, CD40LG
14
Show member pathways
9.3COL1A1, FBN1, IL2RA, TGFB1
15
Show member pathways
9.3IL4, TGFB1, CTGF, IL2RA
16
Show member pathways
9.3CTGF, IL4, TGFB1, IL2RA
17
Show member pathways
9.2FBN1, TGFB1, MMP1, COL1A1
18
Show member pathways
9.2FBN1, MMP1, COL1A1, TGFB1
19
Show member pathways
9.2TGFB1, IL4, IL2RA, CD40LG
209.2IL4, IL2RA, COL1A1, CD40LG
21
Show member pathways
8.7FBN1, TGFB1, IL2RA, COL1A1, CTGF, IL4

Compounds for genes affiliated with Scleroderma

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46Novoseek, 30IUPHAR, 12DrugBank, 3BitterDB, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Scleroderma according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1amiloride46 30 1211.9TGFB1, IL4, CTGF
2erythromycin46 3 52 1212.8TGFB1, IL2RA, CD40LG
3il 10469.8TGFB1, IL4, IL2RA
4okt3469.8IL2RA, IL4, CD40LG
5ivig469.7IL2RA, IL4, CD40LG
6mycophenolate mofetil46 52 1211.7CD40LG, IL2RA, MMP1
7glycosaminoglycan469.7TGFB1, MMP1, COL1A1, XYLT2
8procollagen469.7CTGF, COL1A1, TGFB1, MMP1
9betacarotene469.7MMP1, IL2RA, TGFB1
10rituximab46 52 1211.7TGFB1, IL2RA, CD40LG
11tgf beta1469.7CTGF, FBN1, TGFB1, MMP1
12infliximab46 52 1211.7IL4, MMP1, IL2RA
13ribavirin46 52 1211.6MMP1, CD40LG, IL4
14theophylline46 30 25 1212.6CD40LG, TGFB1, IL2RA
15neopterin469.6CD40LG, IL2RA, IL4
16pentoxifylline46 1210.6IL2RA, MMP1, IL4
17losartan46 52 30 1212.6CTGF, MMP1, TGFB1
18hyaluronic acid46 2510.6FBN1, TGFB1, MMP1, CD40LG
19ribonucleic acid469.5TGFB1, COL1A1, MMP1, CTGF
20alpha tocopherol469.5IL2RA, IL4, CTGF, MMP1
21calcitriol46 62 25 1212.4TGFB1, MMP1, IL2RA, IL4
22hydroxyproline46 25 1211.4MMP1, FBN1, COL1A1, CTGF, TGFB1
23uva 1469.4IL2RA, MMP1
24herbimycin a46 6210.4MMP1, IL2RA, CD40LG, IL4
25heparin46 30 25 1212.4FBN1, TOP1, IL2RA, CD40LG, CTGF
26sb 20358046 6210.4CTGF, IL4, MMP1, TGFB1
27thymidine46 2510.4IL4, TGFB1, CTGF, IL2RA, COL1A1
28pdtc469.3TGFB1, MMP1, IL4
29formaldehyde46 2510.3TGFB1, CD40LG, MMP1, TOP1, IL2RA
30ascorbic acid46 2510.3CD40LG, IL2RA, MMP1, FBN1
31vitamin d469.3FBN1, COL1A1, TGFB1, IL2RA
32doxorubicin46 52 1211.3CD40LG, MMP1, IL2RA, TGFB1, TOP1
33cycloheximide469.3TGFB1, TOP1, CTGF, IL4, MMP1
34n acetylcysteine469.2CTGF, IL2RA, MMP1, CD40LG, IL4
35aspirin46 52 30 2512.2TGFB1, CD40LG, IL2RA, MMP1, IL4
36rantes469.2IL2RA, IL4, CD40LG, MMP1, TGFB1
37indomethacin46 30 62 1212.2MMP1, TGFB1, IL2RA, IL4, CD40LG
38bleomycin46 1210.2IL2RA, IL4, TOP1, TGFB1, CTGF, COL1A1
39paraffin469.2MMP1, TGFB1, IL2RA, CD40LG, IL4
40actinomycin d469.1TGFB1, TOP1, FBL, CD40LG, IL4
41creatinine469.1TTN, TGFB1, MMP1, CD40LG, CTGF, IL2RA
42retinoic acid46 2510.0COL1A1, MMP1, TGFB1, FBN1, CD40LG, CTGF
43cyclosporin a46 30 6211.0MMP1, CTGF, CD40LG, IL2RA, TGFB1, IL4
44estrogen468.7COL1A1, CTGF, TGFB1, MMP1, IL2RA, FBN1
45arginine468.7CD40LG, COL1A1, IL2RA, IL4, FBN1, FBL
46pge2468.7TGFB1, MMP1, IL4, CTGF, CD40LG, COL1A1
47dexamethasone46 52 30 1211.7CTGF, CD40LG, COL1A1, IL2RA, MMP1, TGFB1
48vegf468.5IL4, CTGF, CD40LG, COL1A1, IL2RA, IRF5
49cysteine468.4IL4, FBN1, TTN, MMP1, IL2RA, COL1A1
50serine468.2TGFB1, MMP1, COL1A1, XYLT2, CD40LG, CTGF

GO Terms for genes affiliated with Scleroderma

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17Gene Ontology
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Cellular components related to Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.4CD40LG, IL2RA, IL4
2nuclear exosome (RNase complex)GO:0001769.4EXOSC10, EXOSC9
3proteinaceous extracellular matrixGO:0055789.4CTGF, MMP1, TGFB1, FBN1
4exosome (RNase complex)GO:0001789.1EXOSC9, EXOSC10
5extracellular spaceGO:0056158.8FBN1, TGFB1, IL4, COL1A1, CD40LG, CTGF
6extracellular regionGO:0055768.7FBN1, TTN, TGFB1, MMP1, COL1A1, CTGF

Biological processes related to Scleroderma according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:03296710.1CTGF, TGFB1
2negative regulation of immune responseGO:05077710.1IL2RA, TGFB1
3positive regulation of T cell differentiationGO:04558210.0IL2RA, IL4
4response to estradiolGO:03235510.0TGFB1, COL1A1, CTGF
5positive regulation of epithelial to mesenchymal transitionGO:0107189.9TGFB1, COL1A1
6face morphogenesisGO:0603259.9COL1A1, TGFB1
7positive regulation of activated T cell proliferationGO:0421049.9IL4, IL2RA
8positive regulation of interleukin-12 productionGO:0327359.8CD40LG, IRF5
9nuclear polyadenylation-dependent rRNA catabolic processGO:0710359.7EXOSC10, EXOSC9
10platelet activationGO:0301689.7TTN, TGFB1, COL1A1, CD40LG
11nuclear mRNA surveillanceGO:0710289.7EXOSC10, EXOSC9
12extracellular matrix disassemblyGO:0226179.7COL1A1, FBN1, MMP1
13nuclear-transcribed mRNA catabolic processGO:0009569.7EXOSC9, EXOSC10
14negative regulation of T cell proliferationGO:0421309.6IL2RA, TGFB1
15extracellular matrix organizationGO:0301989.5COL1A1, FBN1, MMP1, TGFB1
16blood coagulationGO:0075969.5COL1A1, MMP1, TGFB1, TTN
17RNA phosphodiester bond hydrolysis, exonucleolyticGO:0905039.5EXOSC10, EXOSC9

Molecular functions related to Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.6CTGF, IL4, TGFB1
2exoribonuclease activityGO:0045329.1EXOSC10, EXOSC9
3protein bindingGO:0055155.8CTGF, FBL, FBN1, TTN, TGFB1, IRF5

Products for genes affiliated with Scleroderma

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Sources for Scleroderma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet