MCID: LCL006
MIFTS: 68

Localized Scleroderma malady

Skin diseases category

Summaries for Localized Scleroderma

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. collagen is a protein normally present in our skin that provides structural support. however, when too much collagen is made, the skin becomes stiff and hard. localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. for some people, localized scleroderma is serious and disabling. there are two generally recognized types of localized scleroderma: morphea and linear.   last updated: 4/3/2012

MalaCards: Localized Scleroderma, also known as morphea, is related to prostate cancer and systemic scleroderma, and has symptoms including asymmetry of the body/hemiatrophy/hemihyperthrophy, musculo-tendinous retractions and dry/squaly skin/exfoliation. An important gene associated with Localized Scleroderma is DEFB1 (defensin, beta 1), and among its related pathways are Rheumatoid arthritis and IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types. The compounds estrogen and gm-csf have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related mouse phenotypes are integument and homeostasis/metabolism.

Wikipedia:63 Morphea, also known as \"localized scleroderma\", or \"circumscribed scleroderma\", involves isolated... more...

Aliases & Classifications for Localized Scleroderma

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
localized scleroderma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

localized scleroderma 8 42 10 48 60
morphea 8 42 44
unspecified circumscribed scleroderma 8
localized fibrosing scleroderma 48
circumscribed scleroderma nos 8
scleroderma, circumscribed 8
circumscribed scleroderma 8
scleroderma, localized 42
localised morphoea 8
localized morphea 8
localized 8


External Ids:

Disease Ontology8 DOID:8472
MeSH34 D012594
NCIt39 C72069
ICD9CM27 701.0
MESH via Orphanet35 D012594
ICD10 via Orphanet26 L94.0
SNOMED-CT via Orphanet57 201048007
UMLS via Orphanet61 C0036420

Related Diseases for Localized Scleroderma

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Systemic Scleroderma family:

localized scleroderma Scleroderma
Juvenile Scleroderma

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

(show top 50)    (show all 1894)
idRelated DiseaseScoreTop Affiliating Genes
1prostate cancer31.2CCL5, CTGF, BMP6, DEFB1, DCN, MMP13
2systemic scleroderma31.1CTGF
3adenocarcinoma31.0CCL5, CTGF, BMP6, DCN, MMP13, SMAD7
4periodontitis30.9MMP1, MMP13, DEFB4A, DEFB1
5adenoma30.8ITGAV, DCN
6leukemia30.8BMP6, ARHGEF1, CD40LG, IL2RA, IL4
7melanoma30.8BMP6, ITGAV, DCN, IL4, MMP13, MMP1
8synovitis30.6MMP13, MMP1
9alzheimer's disease30.6DCN, CTGF
10pancreatic cancer30.5CTGF, BMP6, DCN, SMAD7
11colorectal cancer30.5CTGF, BMP6, ITGAV, MMP13, MMP1, SMAD7
12skin disease30.5CTGF, DEFB103B, DEFB4A, IL13, IL4, MMP1
13rhinitis30.5CCL5, IL13, IL4
14hepatocellular carcinoma30.5CCL5, CTGF, BMP6, ITGAV, DCN, SMAD7
15osteosarcoma30.5BMP6, ITGAV, DCN, MMP13, MMP1
16lupus erythematosus30.5CD40LG
17leishmaniasis30.5IL13, IL4
18herpes simplex30.5CCL5
19bullous pemphigoid30.4CCL5, TNFSF13B, IL13
20cystic fibrosis30.4DEFB1, DEFB103B, DEFB4A
21cutaneous leishmaniasis30.4IL4, IL13
22colon cancer30.4BMP6, DCN, MMP13
23dermatitis30.4IL13, IL4
24allergic rhinitis30.4IL4, IL13, CCL5
25ovarian cancer30.4CTGF, BMP6, DCN, SMAD7
26tuberculosis30.4DEFB4A, DCN, IL2RA, IL4
27peritonitis30.4CTGF
28glomerulonephritis30.3CTGF, BMP6, DCN, CD40LG, SMAD7
29endometriosis30.3MMP1, CCL5
30psoriasis30.3CCL5, DEFB4A, IL13, IL2RA, IL4
31multiple sclerosis30.3IL4, IL2RA, IL13, TNFSF13B, CCL5
32influenza30.3CCL5
33systemic lupus erythematosus30.3CCL5, TNFSF13B, CD40LG, IL2RA, IL4
34basal cell carcinoma30.3MMP1, MMP13, DCN
35breast cancer30.3BMP6, ITGAV, DCN, MMP13, MMP1
36atherosclerosis30.3CCL5, CTGF, BMP6, DCN, CD40LG, MMP13
37asthma30.2IL13, IL4
38malaria30.2CCL5
39tonsillitis30.2DEFB4A, DEFB1
40myeloma30.2TNFSF13B, CD40LG, IL4
41encephalomyelitis30.2TNFSF13B, BMP6, IL4
42candidiasis30.2DEFB4A
43abdominal aortic aneurysm30.2MMP1, MMP13, DCN
44pneumonia30.2CCL5, DEFB1, DEFB4A, IL13
45glaucoma30.2MMP1, CTGF
46hepatitis30.2CD40LG
47hepatitis c30.2TNFSF13B, CD40LG, IL4, MMP1
48eosinophilia30.2CCL5, IL13, IL2RA, IL4
49arthritis30.1CCL5, CTGF, IL13, IL4, MMP13, MMP1
50chondrosarcoma30.1CTGF, MMP13, MMP1

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



Diseases related to localized scleroderma

Clinical Features for Localized Scleroderma

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Sources:
48Orphanet
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Symptoms:

48 (show all 11)
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • musculo-tendinous retractions
  • dry/squaly skin/exfoliation
  • dermal/subcutaneous infiltration/induration
  • irregular/patchy skin hypopigmentation
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • claw hand/retracted fingers
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • claw toes/retracted toes
  • anomalies of skin, subcutaneous tissue and mucosae

Drugs & Therapeutics for Localized Scleroderma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Localized Scleroderma

Drug clinical trials:

Search ClinicalTrials for Localized Scleroderma

Search NIH Clinical Center for Localized Scleroderma

Search CenterWatch for Localized Scleroderma

Genetic Tests for Localized Scleroderma

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Anatomical Context for Localized Scleroderma

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Sources:
32MalaCards
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MalaCards organs/tissues related to Localized Scleroderma:

32
Skin, Breast, Bone, Bone marrow, Testes, Eye, Brain, Heart, Thyroid

Animal Models for Localized Scleroderma or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Localized Scleroderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.7SMAD7, MMP13, CTGF, IL13, CD40LG, DCN
2MP:00053768.1CTGF, ARHGEF1, ITGAV, ITGB5, DCN, IL13
3MP:00053977.8CCL5, TNFSF13B, ARHGEF1, ITGAV, ITGB5, DCN
4MP:00053877.7ITGB5, ITGAV, ARHGEF1, TNFSF13B, CCL5, DEFB1
5MP:00053847.6SMAD7, CCL5, TNFSF13B, CTGF, ARHGEF1, ITGAV

Publications for Localized Scleroderma

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Sources:
50PubMed
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Articles related to Localized Scleroderma:

(show top 50)    (show all 344)
idTitleAuthorsYear
1
Localized scleroderma variants: pharmacologic implications. (22905721)
2014
2
Localized scleroderma: a clinical study at a single center in Korea. (23992265)
2013
3
Successful combination treatment of a patient with progressive juvenile localized scleroderma (morphea) using imatinib, corticosteroids, and methotrexate. (23025697)
2013
4
Access to care for children and young people diagnosed with localized scleroderma or juvenile SSc in the UK. (22344577)
2012
5
Methotrexate and corticosteroids in the treatment of localized scleroderma: a standardized prospective longitudinal single-center study. (22247357)
2012
6
Morphea and other localized forms of scleroderma. (23018858)
2012
7
Initial evaluation of an ultrasound measure for assessing the activity of skin lesions in juvenile localized scleroderma. (21557528)
2011
8
Clinicohistopathological correlations in juvenile localized scleroderma: studies on a subset of children with hypopigmented juvenile localized scleroderma due to loss of epidermal melanocytes. (21570153)
2011
9
Case of localized scleroderma successfully treated with bath psoralen and ultraviolet A therapy. (20175842)
2010
10
Imatinib treatment of generalized localized scleroderma (morphea). (20950732)
2010
11
The use of Doppler ultrasound to evaluate lesions of localized scleroderma. (19604465)
2009
12
Evaluation of heart rhythm variability and arrhythmia in children with systemic and localized scleroderma. (19040309)
2009
13
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
14
Morphea (localized scleroderma). (17452238)
2007
15
A new computerized method for the assessment of skin lesions in localized scleroderma. (17264088)
2007
16
Ultraviolet A1-induced downregulation of human beta-defensins and interleukin-6 and interleukin-8 correlates with clinical improvement in localized scleroderma. (16911288)
2006
17
Localized scleroderma. (17053506)
2006
18
Treatment of pediatric localized scleroderma with methotrexate. (16511930)
2006
19
Localized scleroderma is an autoimmune disorder. (15561734)
2005
20
Localized scleroderma: response to occlusive treatment with tacrolimus ointment. (15656828)
2005
21
Pulsed high-dose corticosteroids combined with low-dose methotrexate in severe localized scleroderma. (16027298)
2005
22
Rheumatoid factor isotypes in localized scleroderma. (15953082)
2005
23
Systemic manifestations in localized scleroderma. (15527700)
2004
24
Topical tacrolimus in the treatment of localized scleroderma. (14721783)
2003
25
Localized scleroderma/morphea. (12207760)
2002
26
Localized linear scleroderma with cutaneous calcinosis. (11890294)
2002
27
Methotrexate and corticosteroid therapy for pediatric localized scleroderma. (10636981)
2000
28
Treatment options for localized scleroderma. (10751843)
2000
29
Radiation-induced localized scleroderma in breast cancer patients. (10333622)
1999
30
Localized scleroderma associated with progressing ischemic stroke. (10223417)
1999
31
Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin 1, in patients with localized scleroderma. (10616014)
1999
32
High-dose UVA1 radiation therapy for localized scleroderma. (9204059)
1997
33
The epidemiology of morphea (localized scleroderma) in Olmsted County 1960-1993. (9002014)
1997
34
Elevated soluble CD23 levels in the sera from patients with localized scleroderma. (8932584)
1996
35
Oral calcitriol as a new therapeutic agent in localized and systemic scleroderma. (7611809)
1995
36
Borrelia burgdorferi and localized scleroderma. (7954205)
1994
37
Localized scleroderma in childhood: a report of 30 cases. (8036522)
1994
38
Capillary abnormalities, Raynaud's phenomenon, and systemic sclerosis in patients with localized scleroderma. (1575525)
1992
39
Lyme disease and localized scleroderma--no evidence for a common aetiology. (2012951)
1991
40
Anti-single-stranded DNA antibody and muscle involvement in localized scleroderma. (2221947)
1990
41
Localized scleroderma. (2671537)
1989
42
Oesophageal motility and lower oesophageal sphincter competence in progressive systemic sclerosis and localized scleroderma. (2928728)
1989
43
Borrelia burgdorferi and localized scleroderma. (2913967)
1989
44
Clinical and serologic expression of localized scleroderma. Case report and review of the literature. (3875636)
1985
45
Localized scleroderma evolving into systemic sclerosis. (4045867)
1985
46
Clinical appearance of skin lesions and disturbances of pigmentation in localized scleroderma. (6084919)
1984
47
Collagen specific amino acids in skin in localized scleroderma. (6203316)
1984
48
Coincidence of vitiligo, alopecia areata, onychodystrophy, localized scleroderma and lichen planus. (478074)
1979
49
Concurrent localized scleroderma and discoid lupus erythematosus. Cutaneous 'mixed' or 'overlap' syndrome. (718182)
1978
50
Localized scleroderma in father and daughter. (13079320)
1953

Genetic Variations for Localized Scleroderma

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Expression for genes affiliated with Localized Scleroderma

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Localized Scleroderma

Search GEO for disease gene expression data for Localized Scleroderma.

Pathways for genes affiliated with Localized Scleroderma

About this section
Sources:
29KEGG, 52R&D Systems, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore, 59Tocris Bioscience, 4Cell Signaling Technology
See all sources

Pathways related to Localized Scleroderma according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3TNFSF13B
210.0IL4, IL13
3
Hide members
9.9DEFB103B, DEFB4A, DEFB1
4
Hide members
9.9IL2RA, IL13, TNFSF13B
59.9ITGAV, ITGB5
69.8MMP1, IL13, IL4
79.8IL2RA, CD40LG, IL4
8
Hide members
9.8CD40LG, IL4, IL2RA
9
Cell adhesion ECM remodeling
Hide members
9.8ITGB5, MMP1, MMP13
10
Hide members
9.8ITGAV, IL2RA, IL13
119.8DCN, SMAD7, BMP6
129.7TNFSF13B, IL4, IL2RA, CCL5
13
Hide members
9.4IL2RA, TNFSF13B, IL13, CD40LG, IL4
149.3ITGAV, ITGB5, DCN, ARHGEF1
15
Hide members
9.3DCN, MMP13, ITGAV, MMP1, ITGB5
16
Hide members
9.0MMP1, ITGAV, CCL5, ARHGEF1, MMP13, ITGB5
17
Hide members
8.9CTGF, BMP6, ARHGEF1, ITGB5, ITGAV
18
Hide members
8.9ITGB5, CTGF, BMP6, ARHGEF1, ITGAV
19
Hide members
8.9IL4, IL2RA, BMP6, CTGF, TNFSF13B, CCL5
20
Hide members
8.9ITGAV, CD40LG, ITGB5, DEFB1, DEFB103B, DEFB4A
21
Hide members
8.7CTGF, BMP6, ARHGEF1, ITGAV, ITGB5, IL2RA
22
Hide members
8.4CTGF, BMP6, ARHGEF1, MMP1, MMP13, IL2RA
23
Hide members
8.2IL4, CCL5, TNFSF13B, CTGF, ITGB5, ITGAV
24
Hide members
7.9ITGB5, CTGF, BMP6, ARHGEF1, CCL5, IL13

Compounds for genes affiliated with Localized Scleroderma

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

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7DEFB4A
2gm-csf44 2811.6CCL5
3endotoxin4410.6DEFB4A
4hydrocortisone44 2 59 1113.6MMP1
5hbd24410.1DEFB4A, DEFB103B, DEFB1
6uva 14410.0MMP1, IL2RA, BMP6
7mycophenolic acid44 49 1112.0CCL5, CD40LG, IL13, IL2RA
8creatinine4410.0TNFSF13B, BMP6, DCN, MMP1
9doxycycline44 1110.9CD40LG, IL13, MMP13, MMP1
10mip 1alpha449.9IL13, CCL5, IL4
11rituximab44 49 1111.8TNFSF13B, CD40LG, IL2RA, IL13
12glatiramer acetate44 1110.8CCL5, IL13, IL4
13salmeterol44 49 28 1112.8CCL5, IL13, IL4
14nacl449.8CTGF, MMP13, DEFB4A, DCN, CCL5, DEFB1
15hydroxyapatite449.8ITGAV, DCN, CTGF, MMP13
16alpha tocopherol449.8IL4, IL2RA, IL13, CTGF, MMP1
17okt3449.8IL4, BMP6, CD40LG, IL2RA
18sp 60012544 5910.8MMP1, MMP13, IL13, CTGF, DEFB4A, CCL5
19rantes449.7IL4, IL2RA, CD40LG, DEFB4A, BMP6
20cyclosporin a44 28 5911.7CCL5, CTGF, DCN, CD40LG, IL2RA, MMP1
21glyceraldehyde 3-phosphate449.7CTGF, MMP13, MMP1, DCN, DEFB4A
22praziquantel44 1110.7IL4, IL13, CD40LG
23pentoxifylline44 1110.7IL2RA, BMP6, IL4, IL13, MMP1
24prednisolone44 28 1111.6IL13, MMP1, MMP13, IL2RA, BMP6
25il 10449.6IL13, BMP6, CCL5, IL2RA, IL4
26ionomycin449.6IL4, IL2RA, IL13, CD40LG, CCL5
27hydroxyproline44 11 2411.6MMP13, SMAD7, MMP1, CTGF, BMP6, DCN
28matrigel449.5CCL5, BMP6, DCN, MMP13, MMP1, SMAD7
29genistein44 28 59 2 11 2414.5CCL5, DCN, CD40LG, MMP13, MMP1, IL2RA
30hyaluronic acid44 2410.5CD40LG, DCN, BMP6, MMP1, IL13, MMP13
31paraffin449.5DEFB4A, DCN, CD40LG, MMP13, MMP1, IL2RA
32herbimycin a44 5910.5BMP6, IL2RA, CD40LG, IL4, MMP13, MMP1
33ribonucleic acid449.5DCN, MMP1, MMP13, BMP6, CCL5, CTGF
34tacrolimus44 49 1111.5BMP6, CCL5, IL13, IL2RA, IL4
35n acetylcysteine449.4CD40LG, IL2RA, IL4, MMP1, SMAD7, CTGF
36calcitriol44 59 11 2412.4IL13, IL4, BMP6, MMP1, IL2RA, CCL5
37tgf beta1449.4MMP13, CTGF, BMP6, DCN, IL13, MMP1
38bleomycin44 1110.3CTGF, SMAD7, IL4, IL2RA, BMP6, DCN
39aspirin44 49 28 2412.2CCL5, MMP1, IL4, IL2RA, IL13, CD40LG
40histamine44 28 2411.2BMP6, DEFB4A, IL13, IL4, IL2RA, CD40LG
41thymidine44 2410.2TNFSF13B, MMP13, CTGF, BMP6, IL2RA, IL4
42pd 98,059449.1MMP13, IL13, DCN, MMP1, DEFB4A, BMP6
43sb 20358044 5910.0SMAD7, MMP1, MMP13, IL4, IL13, DEFB4A
44heparin44 28 11 2412.0IL2RA, IL13, CD40LG, MMP13, DCN, DEFB4A
45retinoic acid44 249.8MMP13, IL13, CD40LG, DCN, DEFB4A, BMP6
46lactate448.8CCL5, CD40LG, IL13, BMP6, CTGF, MMP1
47cysteine448.7CCL5, CTGF, DEFB4A, CD40LG, IL13, IL2RA
48dexamethasone44 49 28 1111.6CD40LG, SMAD7, CCL5, IL13, CTGF, DCN
49vegf448.2CCL5, CTGF, BMP6, ITGAV, CD40LG, IL13
50tyrosine447.6DCN, MMP13, IL4, NM, SMAD7, ARHGEF1

GO Terms for genes affiliated with Localized Scleroderma

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00579610.0DCN, DEFB4A, DEFB1
2external side of plasma membraneGO:0098979.2ITGAV, CD40LG, IL13, IL2RA, IL4
3extracellular regionGO:0055768.7CCL5, CTGF, DEFB1, DEFB4A, DCN, IL13
4extracellular spaceGO:0056158.5MMP13, CCL5, TNFSF13B, CTGF, BMP6, DCN

Biological processes related to Localized Scleroderma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1B cell costimulationGO:03129610.2IL4, TNFSF13B
2immunoglobulin secretionGO:04830510.2CD40LG, TNFSF13B
3positive regulation of B cell proliferationGO:03089010.0TNFSF13B, IL13, IL4
4regulation of proton transportGO:01015510.0IL13, IL4
5positive regulation of T cell proliferationGO:0421029.9IL4, TNFSF13B, CCL5
6chemotaxisGO:0069359.9IL4, DEFB4A, DEFB1, CCL5
7positive regulation of T cell differentiationGO:0455829.7IL2RA, IL4
8integrin-mediated signaling pathwayGO:0072299.6ITGB5, ITGAV, CTGF
9extracellular matrix organizationGO:0301989.5ITGAV, ITGB5, DCN, MMP13, MMP1
10inflammatory responseGO:0069549.4IL13, CD40LG, BMP6, CCL5
11immune responseGO:0069559.2IL4, IL2RA, IL13, DEFB4A, DEFB1, BMP6

Molecular functions related to Localized Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.2IL4, IL13, CD40LG, BMP6, TNFSF13B

Products for genes affiliated with Localized Scleroderma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Localized 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