MCID: SCL016
MIFTS: 53

Scleroderma malady

Summaries for Scleroderma

Sources:
8Disease Ontology, 33MalaCards
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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. Related mouse phenotypes are mortality/aging and craniofacial.

Aliases & Classifications for Scleroderma

Sources:
8Disease Ontology, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
See all sources

Aliases & Descriptions:

scleroderma 8 61
dermatosclerosis 8
scleroderma nos 8


Related Diseases for Scleroderma

Sources:
17GeneCards, 18GeneDecks
See all sources

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 339)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma31.7TOP1, CTGF
2localized scleroderma31.6IL2RA, MMP1
3systemic lupus erythematosus30.9HLA-DRB1, FBN1, FBL, TOP1, CD40LG, IL2RA
4mixed connective tissue disease30.6FBN1
5polymyositis30.6FBL, TTN
6graft versus host disease30.5IL4, IL2RA, HLA-DRB1
7vasculitis30.5CD40LG
8arthritis30.4TGFB1, MMP1, IL4, FBN1, HLA-DRB1, CTGF
9primary biliary cirrhosis30.1CENPB, CD40LG, HLA-DRB1
10rheumatic disease30.0CENPA, CENPB, IL2RA, CD40LG, TOP1
11hepatitis c30.0CD40LG, FBL, HLA-DRB1
12lichen planus30.0FBN1
13keloids29.9CTGF, BMP6, MMP1, TGFB1
14sjogren's syndrome29.9CD40LG, IL2RA, CENPB
15uveitis29.9IL4, IL2RA
16arthropathy29.9MMP1
17primary pulmonary hypertension29.9FBN1, BMP6
18thrombocytopenia29.9CD40LG, TOP1
19asthma29.7TGFB1, IL4, IL2RA, HLA-DRB1, CTGF
20adenocarcinoma29.7CTGF, BMP6, TOP1, TGFB1
21graves' disease29.7HLA-DRB1, IL2RA, IL4
22nephritis29.7CD40LG, CTGF
23ulcerative colitis29.7HLA-DRB1, IL2RA, IL4, MMP1
24cryoglobulinemia29.7CD40LG
25rubella29.7CD40LG
26hereditary hemorrhagic telangiectasia29.7BMP6, TGFB1
27cryoglobulinemic vasculitis29.7CD40LG
28pemphigus vulgaris29.7HLA-DRB1
29linear scleroderma10.9
30diffuse scleroderma10.8
31limited scleroderma10.7
32sine scleroderma10.7
33juvenile scleroderma10.6
34eosinophilic fasciitis10.5
35facial hemiatrophy10.3
36melorheostosis10.3
37pulmonary systemic sclerosis10.3
38crescentic glomerulonephritis10.2
39n syndrome10.2
40reynolds syndrome10.2
41raynaud disease10.2
42vitiligo10.2
43scleredema10.2
44carcinoid syndrome10.2
45cutaneous sclerosis10.2
46scleromyxedema10.2
47porphyria cutanea tarda10.1
48pneumatosis cystoides intestinalis10.1
49progeria10.1
50vascular disease10.1

Graphical network of the top 20 diseases related to Scleroderma:



Diseases related to scleroderma

Clinical Features for Scleroderma

Drugs & Therapeutics for Scleroderma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Scleroderma

Animal Models for Scleroderma or affiliated genes

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

MGI Mouse Phenotypes related to Scleroderma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076811.2CTGF, FBN1, FBL, TOP1, CD40LG, IL2RA
2MP:000538211.0CTGF, FBN1, IL4, TTN, CENPA, TGFB1

Publications for Scleroderma

Sources:
51PubMed
See all sources

Articles related to Scleroderma:

(show top 50)    (show all 1698)
idTitleAuthorsYear
1
Werner's syndrome may be lost in the shadow of the scleroderma. (23129431)
2013
2
Bath psoralen-UVA photochemotherapy for localized scleroderma: experience from a single institute. (24001380)
2013
3
Epigenetic repression of bone morphogenetic protein receptor II expression in scleroderma. (23859708)
2013
4
Copper resistance of different ectomycorrhizal fungi such as Pisolithus microcarpus, Pisolithus sp., Scleroderma sp. and Suillus sp. (24294261)
2013
5
Scleroderma: skin stiffness assessment using the stress-strain relationship under progressive suction. (23530882)
2013
6
Systemic sclerosis and cryoglobulinemia: our experience with overlapping syndrome of scleroderma and severe cryoglobulinemic vasculitis and review of the literature. (23806565)
2013
7
Interstitial lung disease: is interstitial lung disease the same as scleroderma lung disease? (22955020)
2012
8
Ischaemic complications 20 years after harvesting of a radial forearm flap in a patient with scleroderma. (22747356)
2012
9
Impaired IL-17 signaling pathway contributes to the increased collagen expression in scleroderma fibroblasts. (22403442)
2012
10
Late-Onset Scleroderma Renal Crisis Induced by Tacrolimus and Prednisolone: A Case Report. (22836123)
2012
11
Autoantibodies in scleroderma and their association with the clinical profile of the disease. A study of 66 patients from southern Brazil. (22281893)
2011
12
Phaeochromocytoma mimicking scleroderma. (21423542)
2011
13
Scleroderma cardiac disease. (21391376)
2010
14
Localized scleroderma and zinc: a pilot study. (20123645)
2010
15
Fox-2 protein regulates the alternative splicing of scleroderma-associated lysyl hydroxylase 2 messenger RNA. (20131247)
2010
16
A case report of tumor necrosis factor-alpha antibody-induced thrombocytopenia associated with emerging IgM anticardiolipin antibody in patients with scleroderma overlap/rheumatoid arthritis. (16521050)
2007
17
Vitamin B12-associated localized scleroderma and its treatment. (15355372)
2004
18
Constitutive connective tissue growth factor expression in scleroderma fibroblasts is dependent on Sp1. (12888575)
2003
19
Treatment of scleroderma. (11790173)
2002
20
Scleroderma-like syndrome in a child: eosinophilic fasciitis or scleredema adultorum? (10923227)
2000
21
Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature. (10990576)
2000
22
Eosinophilic fasciitis--progression to linear scleroderma: a case report. (10770102)
1999
23
Global improvement of systemic scleroderma under long-term administration of octreotide. (10491499)
1999
24
Increased cutaneous immunoreactive stem cell factor expression and serum stem cell factor level in systemic scleroderma. (10342750)
1998
25
Management of localized scleroderma. (9512105)
1998
26
Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. (9778214)
1998
27
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). (9126027)
1997
28
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. (8989070)
1996
29
Clinical significance of serum levels of soluble interleukin-2 receptor in patients with localized scleroderma. (8736323)
1996
30
IL-4 upregulates tenascin synthesis in scleroderma and healthy skin fibroblasts. (8941674)
1996
31
Localized scleroderma. (8076261)
1994
32
Enhanced expression of high-affinity interleukin-2 receptors in scleroderma: possible role for IL-6. (1728984)
1992
33
Childhood linear scleroderma: a possible role of thermography for evaluation. (1404137)
1992
34
An analysis of the hormonal response during the performance of stress tests in patients with systemic lupus erythematosus and systemic scleroderma]. (1333648)
1992
35
Adhesion of peripheral blood mononuclear cells to vascular endothelium in patients with systemic sclerosis (scleroderma). (1622415)
1992
36
Linear scleroderma and melorheostosis. (1547459)
1992
37
Connective tissue metabolism including cytokines in scleroderma. (1772750)
1991
38
Circulating androgens in male patients suffering from systemic scleroderma. (1929551)
1991
39
Natural killer cell activity of peripheral blood mononuclear cells from patients with various forms of systemic scleroderma. (3814504)
1987
40
A cytogenetic analysis of twenty cases of systemic scleroderma. (3495226)
1986
41
Purification and partial characterization of a nucleolar scleroderma antigen (Mr = 34,000; pI, 8.5) rich in NG,NG-dimethylarginine. (2414294)
1985
42
Landmark article May 23, 1942: Diffuse collagen disease. Acute disseminated lupus erythematosus and diffuse scleroderma. By Paul Klemperer, Abou D. Pollack and George Baehr. (6366270)
1984
43
Hypertensive retinopathy and generalized scleroderma. (7325205)
1981
44
Erosive arthropathy in systemic scleroderma. (1079058)
1975
45
Pneumatosis cystoides intestinalis, associated with scleroderma and presenting with pneumoperitoneum. (6040871)
1967
46
SYSTEMIC SCLERODERMA, CALCINOSIS CUTIS AND PARATHYROID HYPERPLASIA. (14334660)
1965
47
Scleroderma associated with osteopoikilosis. (13486973)
1958
48
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957
49
Diffuse scleroderma, with report of a case showing multiple lesions. (14852204)
1951
50
Nevus linearis; localized scleroderma? (morphea). (20240689)
1947

Genetic Variations for Scleroderma

Expression for genes affiliated with Scleroderma

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

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 53R&D Systems
See all sources

Pathways related to Scleroderma according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.0CTGF, BMP6, HLA-DRB1, MMP1, IL2RA, TGFB1
2
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10.9FBN1, CTGF, TGFB1, IL2RA, BMP6
3
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10.9TGFB1, IL4, IL2RA, BMP6, CTGF
4
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10.9TGFB1, IL4, CTGF, BMP6, IL2RA
5
Hide members
10.8TGFB1, IL4, CD40LG, HLA-DRB1
6
Hide members
10.8IL4, IL2RA, CD40LG, HLA-DRB1
7
Hide members
10.8CTGF, IL2RA, BMP6, TGFB1
810.7IL2RA, TGFB1, HLA-DRB1
910.7IL2RA, CD40LG, IL4
10
Hide members
10.7IL4, CD40LG, IL2RA
1110.7HLA-DRB1, IL2RA, IL4
12
Hide members
10.7IL2RA, HLA-DRB1, IL4
13
Hide members
10.6IL2RA
1410.6IL4
1510.6HLA-DRB1

Compounds for genes affiliated with Scleroderma

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Scleroderma according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1vegf4511.5CD40LG, BMP6, CTGF, MMP1, IL2RA, TGFB1
2serine4511.5XYLT2, MMP1, TTN, TGFB1, FBN1, CTGF
3bleomycin45 1112.5TGFB1, BMP6, IL4, IL2RA, CTGF, TOP1
4aspirin45 50 29 2414.5CD40LG, IL2RA, IL4, MMP1, TGFB1, BMP6
5doxorubicin45 50 1113.4IL2RA, CD40LG, BMP6, MMP1, TGFB1, TOP1
6cysteine4511.4FBN1, CD40LG, IL2RA, IL4, MMP1, TTN
7heparin45 29 11 2414.4TOP1, FBN1, CD40LG, IL2RA, BMP6, CTGF
8hydroxyproline45 11 2413.4CTGF, BMP6, MMP1, FBN1, TGFB1
9rantes4511.4TGFB1, BMP6, CD40LG, IL2RA, IL4
10tgf beta14511.4BMP6, TGFB1, MMP1, CTGF, FBN1
11herbimycin a45 6012.3IL4, IL2RA, BMP6, MMP1, CD40LG
12formaldehyde45 2412.3MMP1, TGFB1, IL2RA, CD40LG, TOP1
13hyaluronic acid45 2412.3MMP1, TGFB1, CD40LG, FBN1, BMP6
14calcitriol45 60 11 2414.3IL4, IL2RA, MMP1, TGFB1, BMP6
15methotrexate45 50 1113.3TGFB1, HLA-DRB1, MMP1, BMP6, IL2RA
16n acetylcysteine4511.3CD40LG, IL4, MMP1, IL2RA, CTGF
17cyclosporin a45 29 6013.3IL2RA, MMP1, CD40LG, CTGF
18sb 20358045 6012.3BMP6, IL4, CTGF, TGFB1, MMP1
19okt34511.3CD40LG, IL2RA, BMP6, IL4
20creatinine4511.3BMP6, TGFB1, TTN, MMP1
21il 104511.3IL4, IL2RA, BMP6, TGFB1
22oligonucleotide4511.2BMP6, HLA-DRB1, CENPB, MMP1, TGFB1, CTGF
23dexamethasone45 50 29 1114.2CTGF, BMP6, CD40LG, TGFB1
24histamine45 29 2413.2BMP6, TGFB1, CD40LG, IL4, IL2RA
25rapamycin4511.2BMP6, CTGF, MMP1, IL2RA, CD40LG
26losartan45 50 29 1114.2MMP1, CTGF, BMP6, TGFB1
27polyethylene glycol4511.2IL4, BMP6, TGFB1, CD40LG
28actinomycin d4511.2TGFB1, IL4, TOP1, FBL, CD40LG
29arginine4511.2HLA-DRB1, FBL, CD40LG, IL2RA, FBN1, IL4
30paraffin4511.2IL4, MMP1, CD40LG, IL2RA, TGFB1
31alpha tocopherol4511.2MMP1, CTGF, IL4, IL2RA
32uva 14511.2IL2RA, MMP1, BMP6
33glycosaminoglycan4511.2XYLT2, MMP1, TGFB1, BMP6
34atorvastatin45 50 29 11 2415.2CD40LG, IL2RA, MMP1, BMP6
35pentoxifylline45 1112.2BMP6, MMP1, IL4
36nifedipine45 50 29 1114.1TGFB1, CTGF, IL2RA, BMP6
37pmma4511.1CD40LG, BMP6, TGFB1
38paclitaxel45 50 1113.1TGFB1, TOP1, BMP6
39lactate4511.0TGFB1, MMP1, CD40LG, BMP6, CTGF
40tacrolimus45 50 1113.0TGFB1, IL4, IL2RA, BMP6
41pge24511.0TGFB1
42mycophenolate mofetil45 50 1113.0CD40LG, MMP1, IL2RA
43procollagen4511.0TGFB1
44pirfenidone45 6011.9BMP6
45cisplatin45 50 60 1113.9BMP6, CD40LG, TOP1, TGFB1, IL2RA
46infliximab45 50 1112.9IL2RA, IL4, MMP1
47ribavirin45 50 1112.8IL4, MMP1, CD40LG
48erythromycin45 50 2 1113.7IL2RA, TGFB1
49ivig4510.5CD40LG
50amiloride45 29 1112.4IL4, CTGF, TGFB1

GO Terms for genes affiliated with Scleroderma

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 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