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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36MGI
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MGI Mouse Phenotypes related to Localized Scleroderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.7CTGF, ITGB5, DCN, CD40LG, IL13, MMP13
2MP:00053768.1ARHGEF1, ITGAV, ITGB5, DCN, CD40LG, 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
Resolution with rituximab of localized scleroderma occurring during etanercept treatment in a patient with rheumatoid arthritis. (23557629)
2013
2
Thermography for evaluation of localized scleroderma treated with methotrexate and corticosteroid. (23846291)
2013
3
Update on the classification and treatment of localized scleroderma. (23948159)
2013
4
The downregulation of microRNA let-7a contributes to the excessive expression of type I collagen in systemic and localized scleroderma. (23509348)
2013
5
Local injection of latency-associated peptide, a linker propeptide specific for active form of transforming growth factor-beta1, inhibits dermal sclerosis in bleomycin-induced murine scleroderma. (22188586)
2012
6
Localized scleroderma: MR findings and clinical features. (21693661)
2011
7
Reconstruction of coup de sabre deformity (linear localized scleroderma) by using galeal frontalis muscle flap and demineralized bone matrix combination. (21233742)
2011
8
Development and initial validation of the localized scleroderma skin damage index and physician global assessment of disease damage: a proof-of-concept study. (20008472)
2010
9
Localized scleroderma in children: clinical, diagnostic and therapeutic aspects. (19503984)
2009
10
Is juvenile localized scleroderma related to Lyme borreliosis? (19836648)
2009
11
Medium-dose is more effective than low-dose ultraviolet A1 phototherapy for localized scleroderma as shown by 20-MHz ultrasound assessment. (19211170)
2009
12
Pathogenesis and therapeutic approaches for improved topical treatment in localized scleroderma and systemic sclerosis. (19022832)
2009
13
Localized scleroderma (morphea) in a patient with chronic hepatitis C. (19369835)
2009
14
Immunohistochemical characterization of the cellular infiltrate in localized scleroderma. (18412858)
2008
15
Pediatric morphea (localized scleroderma): review of 136 patients. (18571769)
2008
16
Systemic sclerosis and localized scleroderma in childhood. (18329543)
2008
17
Treatment of localized scleroderma depends on the clinical subtype. (17441961)
2007
18
Immunophenotyping of chimeric cells in localized scleroderma. (17085771)
2007
19
Absence of Borrelia burgdorferi antibodies in the sera of Venezuelan patients with localized scleroderma (morphea). (17672287)
2006
20
Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study. (16368732)
2006
21
Antinucleosome antibody is a major autoantibody in localized scleroderma. (15606513)
2004
22
Evaluation of medium-dose UVA1 phototherapy in localized scleroderma with the cutometer and fast Fourier transform method. (14571073)
2003
23
Comparative biochemistry of human skin: glycosaminoglycans from different body sites in normal subjects and in patients with localized scleroderma. (12602961)
2003
24
Medium-dose UVA1 phototherapy in localized scleroderma and its effect in CD34-positive dendritic cells. (11606918)
2001
25
Nevus lipomatosus cutaneous superficialis (Hoffmann-Zurhelle) with localized scleroderma like appearance. (11277956)
2001
26
Double-blind, placebo-controlled study of oral calcitriol for the treatment of localized and systemic scleroderma. (11100017)
2000
27
Expression of TGF-beta 1, -beta 2 and -beta 3 in localized and systemic scleroderma. (10468187)
1999
28
Low-dose UVA phototherapy for treatment of localized scleroderma. (9448200)
1998
29
Histopathologic differentiation between localized and systemic scleroderma. (9650695)
1998
30
Localized scleroderma. (9512104)
1998
31
Connective tissue growth factor gene expression in tissue sections from localized scleroderma, keloid, and other fibrotic skin disorders. (8618012)
1996
32
Cardiac abnormalities in a patient with localized scleroderma. (8758612)
1996
33
Localized scleroderma including morphea, linear scleroderma, and eosinophilic fasciitis. (8922521)
1996
34
Demonstration of interleukin-2, interleukin-4 and interleukin-6 in sera from patients with localized scleroderma. (7763091)
1995
35
Stimulated expression of decorin and the decorin gene in fibroblasts cultured from patients with localized scleroderma. (7625849)
1995
36
Treatment of linear localized scleroderma with the anti-allergic drug, tranilast. (7525127)
1994
37
Serum concentration of procollagen type I carboxyterminal propeptide in localized scleroderma. (7944508)
1994
38
Serum levels of soluble interleukin-2 receptor. A marker of disease activity in localized scleroderma. (8003062)
1994
39
Squamous cell carcinoma in localized scleroderma following immunosuppressive therapy with azathioprine. (8105625)
1993
40
Localized scleroderma and Borrelia antibody seroconversion. (1428439)
1992
41
20-MHz B-mode ultrasound in monitoring the course of localized scleroderma (morphea). (1812687)
1991
42
Osteolysis of the calcaneus in a child with localized scleroderma. (1933506)
1991
43
The relevance of elevated Borrelia burgdorferi titres in localized scleroderma. (2605808)
1989
44
Frequency, levels, and significance of blood eosinophilia in systemic sclerosis, localized scleroderma, and eosinophilic fasciitis. (3668010)
1987
45
Assessment of epidermal atrophy in localized scleroderma (morphea). (3519301)
1986
46
Glycosaminoglycans in localized scleroderma (morphoea). (3159540)
1985
47
Localized scleroderma 'en coup de sabre' with external eye muscle involvement at the same line. (6713721)
1984
48
Decreased skin thickness of pigmented spots appearing in localized scleroderma (morphoea). Measurement of skin thickness by 15 MHz pulsed ultrasound. (6721573)
1984
49
Localized scleroderma; a clinical study of two hundred thirty-five cases. (13371921)
1956
50
A case for diagnosis (localized scleroderma?). (20983412)
1946

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
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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

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Sources:
29KEGG, 52R&D Systems, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore, 59Tocris Bioscience, 4Cell Signaling Technology
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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
9.9DEFB4A, DEFB103B, DEFB1
4
Hide members
9.9IL2RA, IL13, TNFSF13B
59.9ITGB5, ITGAV
69.8IL13, IL4, MMP1
7
Hide members
9.8IL4, IL2RA, CD40LG
89.8IL4, IL2RA, CD40LG
9
Cell adhesion ECM remodeling
Hide members
9.8MMP1, MMP13, ITGB5
10
Hide members
9.8ITGAV, IL13, IL2RA
119.8SMAD7, DCN, BMP6
129.7CCL5, TNFSF13B, IL2RA, IL4
13
Hide members
9.4TNFSF13B, CD40LG, IL13, IL2RA, IL4
149.3ARHGEF1, ITGAV, ITGB5, DCN
15
Hide members
9.3ITGAV, ITGB5, DCN, MMP13, MMP1
16
Hide members
9.0CCL5, ARHGEF1, ITGAV, ITGB5, MMP13, MMP1
17
Hide members
8.9CTGF, BMP6, ARHGEF1, ITGAV, ITGB5
18
Hide members
8.9CTGF, BMP6, ARHGEF1, ITGAV, ITGB5
19
Hide members
8.9CCL5, TNFSF13B, CTGF, BMP6, IL13, IL2RA
20
Hide members
8.9ITGAV, ITGB5, DEFB1, DEFB103B, DEFB4A, CD40LG
21
Hide members
8.7CTGF, BMP6, ARHGEF1, ITGAV, ITGB5, IL2RA
22
Hide members
8.4CTGF, BMP6, ARHGEF1, ITGAV, ITGB5, IL2RA
23
Hide members
8.2CCL5, TNFSF13B, CTGF, BMP6, ITGAV, ITGB5
24
Hide members
7.9IL4, CCL5, TNFSF13B, CTGF, BMP6, ARHGEF1

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

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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