MCID: LCL006
MIFTS: 59

Localized Scleroderma malady

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

Summaries for Localized Scleroderma

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 systemic scleroderma and keloids, and has symptoms including claw toes/retracted toes, upper limb asymmetry/hemiatrophy/hemihypertrophy and anomalies of skin, subcutaneous tissue and mucosae. An important gene associated with Localized Scleroderma is DEFB1 (defensin, beta 1), and among its related pathways are Defensins and TGF-beta Signaling Pathway. The compounds hbd2 and alginate have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related mouse phenotype immune system.

Wikipedia:66 Morphea, also known as \"localized scleroderma\", or \"circumscribed scleroderma\", involves isolated... more...

Aliases & Classifications for Localized Scleroderma

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 50Orphanet, 63UMLS, 46Novoseek, 28ICD9CM, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
localized scleroderma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

localized scleroderma 9 44 11 50 63
morphea 9 44 46
unspecified circumscribed scleroderma 9
localized fibrosing scleroderma 50
circumscribed scleroderma nos 9
scleroderma, circumscribed 9
circumscribed scleroderma 9
scleroderma, localized 44
localised morphoea 9
localized morphea 9
localized 9


External Ids:

Disease Ontology9 DOID:8472
ICD9CM28 701.0
MeSH36 D012594
NCIt41 C72069
MESH via Orphanet37 D012594
ICD10 via Orphanet27 L94.0
SNOMED-CT via Orphanet60 201048007
UMLS via Orphanet64 C0036420

Related Diseases for Localized 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 Localized Scleroderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma30.2DCN, TNFSF13B
2keloids30.2SMAD7, DCN, MMP13
3rheumatoid arthritis30.1MMP13, DCN, TNFSF13B
4sarcoidosis30.0DCN, DEFB1, DEFB4A
5hypertrophic scars29.9SMAD7, DCN
6scleroderma11.3
7lupus erythematosus10.4
8fasciitis10.3
9eosinophilic fasciitis10.3
10facial hemiatrophy10.2
11breast cancer10.2
12acrodermatitis10.2
13hepatitis c10.2
14systemic lupus erythematosus10.2
15vitiligo10.2
16arthritis10.2
17calcinosis10.2
18eosinophilia10.2
19hepatitis10.2
20lipodystrophy10.2
21skin disease10.2
22atrophoderma of pierini and pasini10.2
23lichen sclerosus10.2
24linear scleroderma10.2
25progressive hemifacial atrophy10.2
26blindness10.2
27rubella10.1
28panniculitis10.1
29congenital rubella10.1
30lipodermatosclerosis10.1
31subcutaneous panniculitis-like t-cell lymphoma10.1
32oral candidiasis10.1DEFB4A
33candidiasis10.1DEFB4A
34morpheaform basal cell carcinoma10.1
35herpes zoster10.1
36granuloma annulare10.1
37tonsillitis10.1DEFB1, DEFB4A
38duodenal ulcer10.1DEFB1, DEFB4A
39cholesteatoma10.0DEFB4A, DEFB1
40gastritis10.0DEFB1, DEFB4A
41abdominal aortic aneurysm10.0DCN, MMP13
42arthropathy10.0MMP13, DCN
43gastric adenocarcinoma10.0MMP13, DEFB4A
44basal cell carcinoma10.0DCN, MMP13
45pneumonia10.0DEFB1, DEFB4A
46graft versus host disease10.0
47autoimmune thyroiditis10.0
48autoimmune thrombocytopenic purpura10.0
49bronchiolitis10.0
50bronchiolitis obliterans10.0

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



Diseases related to localized scleroderma

Symptoms for Localized Scleroderma

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50Orphanet
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Symptoms:

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

Drugs & Therapeutics for Localized Scleroderma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Localized Scleroderma:

34
Skin, Breast, Bone, Bone marrow, Brain, Eye, Testes, Heart, Thyroid

Animal Models for Localized Scleroderma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Localized Scleroderma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1DCN, TNFSF13B, SMAD7, DEFB1

Publications for Localized Scleroderma

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53PubMed
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Articles related to Localized Scleroderma:

(show top 50)    (show all 317)
idTitleAuthorsYear
1
microRNA-7 down-regulation mediates excessive collagen expression in localized scleroderma. (22965811)
2013
2
Bath psoralen-UVA photochemotherapy for localized scleroderma: experience from a single institute. (24001380)
2013
3
Pulsed dye laser in the treatment of localized scleroderma and its effects on CD34+ and Factor XIIIa+ cells: an immunohistochemical study. (23645504)
2013
4
Coexistence of lichen sclerosus and morphea: a retrospective analysis of 472 patients with localized scleroderma from a German tertiary referral center. (22533994)
2012
5
Localized scleroderma: assessment of the therapeutic response to phototherapy. (22481652)
2012
6
Localized scleroderma associated with chronic hepatitis C. (23213578)
2012
7
Case of juvenile localized scleroderma with joint sclerosis and SjAPgren's syndrome in a child with precocious puberty. (21658114)
2011
8
Case of localized scleroderma associated with osteomyelitis. (20175843)
2010
9
Localized scleroderma in children: clinical, diagnostic and therapeutic aspects. (19503984)
2009
10
Physical burden of symptoms in patients with localized scleroderma and eosinophilic fasciitis. (18936410)
2008
11
Immunohistochemical characterization of the cellular infiltrate in localized scleroderma. (18412858)
2008
12
Elevated serum BAFF levels in patients with localized scleroderma in contrast to other organ-specific autoimmune diseases. (17222220)
2007
13
Morphea (localized scleroderma). (17452238)
2007
14
Collagen degradation products and proinflammatory cytokines in systemic and localized scleroderma. (17448296)
2007
15
Increased serum levels of TGFbeta1 in children with localized scleroderma. (18053185)
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
Follow-up efficacy of integrative Chinese and Western drugs on localized scleroderma with vitamine B6 and Xuefu Zhuyu decoction. (15975305)
2005
18
Localized scleroderma is an autoimmune disorder. (15561734)
2005
19
Localized scleroderma: response to occlusive treatment with tacrolimus ointment. (15656828)
2005
20
Novel autoantibody to Cu/Zn superoxide dismutase in patients with localized scleroderma. (15086540)
2004
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
Topical tacrolimus in the treatment of localized scleroderma. (14721783)
2003
24
Comparative biochemistry of human skin: glycosaminoglycans from different body sites in normal subjects and in patients with localized scleroderma. (12602961)
2003
25
Localized scleroderma in a woman irradiated at two sites for endometrial and breast carcinoma: a case history and a review of the literature. (12631225)
2003
26
Localized scleroderma in a 12-year-old girl presenting as gingival recession. A case report and literature review. (11806189)
2001
27
A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. (10651089)
1999
28
Effectiveness of topical calcitriol for localized scleroderma. (9918276)
1999
29
Low-dose UVA phototherapy for treatment of localized scleroderma. (9448200)
1998
30
PUVA therapy in localized scleroderma. (9643343)
1998
31
Double-blind, placebo-controlled study of intralesional interferon gamma for the treatment of localized scleroderma. (9091475)
1997
32
Circulatory system in children with localized scleroderma. (9142712)
1997
33
High-dose UVA1 radiation therapy for localized scleroderma. (9204059)
1997
34
Bronchiolitis obliterans in a patient with localized scleroderma treated with D-penicillamine. (8804954)
1996
35
Treatment of severe forms of localized scleroderma with oral corticosteroids: follow-up study on 17 patients. (8179352)
1994
36
Borrelia burgdorferi and localized scleroderma. (7954205)
1994
37
Localized scleroderma after exposure to organic solvents. (7873829)
1994
38
Treatment of linear localized scleroderma with the anti-allergic drug, tranilast. (7525127)
1994
39
Localized scleroderma. (8076261)
1994
40
Localized scleroderma and hemiatrophy in association with antibodies to double-stranded DNA. (8506209)
1993
41
Prevalence and characteristics of anti-single-stranded DNA antibodies in localized scleroderma. Comparison with systemic lupus erythematosus. (1863075)
1991
42
Auto-immune disorders in localized scleroderma. (2078051)
1990
43
The relevance of elevated Borrelia burgdorferi titres in localized scleroderma. (2605808)
1989
44
Localized scleroderma. (2702053)
1989
45
Frequency, levels, and significance of blood eosinophilia in systemic sclerosis, localized scleroderma, and eosinophilic fasciitis. (3668010)
1987
46
Localized scleroderma (morphea) and antibody to Borrelia burgdorferi. (3308981)
1987
47
Treatment of localized scleroderma and lichen sclerosus with etretinate. (6203311)
1984
48
Skin thickness and collagen content in progressive systemic sclerosis and localized scleroderma. (420706)
1979
49
Concurrent localized scleroderma and discoid lupus erythematosus. Cutaneous 'mixed' or 'overlap' syndrome. (718182)
1978
50
The prognosis of localized scleroderma. (13593870)
1958

Variations for Localized Scleroderma

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Expression for genes affiliated with Localized Scleroderma

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 58SinoBiological, 31KEGG
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Pathways related to Localized Scleroderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6DEFB1, DEFB4A
2
Show member pathways
9.3DCN, SMAD7

Compounds for genes affiliated with Localized Scleroderma

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

(show all 31)
idCompoundScoreTop Affiliating Genes
1hbd24610.0DEFB1, DEFB4A
2alginate469.8DCN, MMP13
3hydroxyapatite469.7MMP13, DCN
4sp 60012546 6210.7MMP13, DEFB4A
5procollagen469.7DCN, MMP13
6chondroitin sulfate46 2510.7MMP13, DCN
7p002469.6DEFB4A, MMP13
8glycosaminoglycan469.6DCN, MMP13
9bleomycin46 1210.6DCN, SMAD7
10agarose469.5MMP13, DCN
11hyaluronic acid46 2510.5MMP13, DCN
12rantes469.5MMP13, DEFB1, DEFB4A
13heparan sulfate46 2510.4DCN, DEFB1
14glyceraldehyde 3-phosphate469.3DEFB4A, DCN, MMP13
15paraffin469.3DEFB4A, DCN, MMP13
16genistein46 30 62 3 25 1214.3MMP13, DCN, DEFB4A
17heparin46 30 25 1212.3MMP13, DCN, DEFB4A
18sb 20358046 6210.2MMP13, SMAD7, DEFB4A
19hydroxyproline46 25 1211.2MMP13, DCN, SMAD7
20tgf beta1469.2SMAD7, DCN, MMP13
21matrigel469.2MMP13, DCN, SMAD7
22oligonucleotide469.0SMAD7, DCN, MMP13
23vegf469.0MMP13, DCN, SMAD7
24estrogen469.0DEFB4A, DCN, MMP13
25nacl469.0MMP13, DCN, DEFB1, DEFB4A
26glucose468.9DCN, SMAD7, DEFB1
27retinoic acid46 259.9DEFB4A, DEFB1, DCN, MMP13
28pd 98,059468.7DEFB4A, SMAD7, DCN, MMP13
29cysteine468.7MMP13, DCN, DEFB4A
30tyrosine468.7DEFB4A, SMAD7, DCN, MMP13
31dexamethasone46 52 30 1211.3DEFB4A, DEFB1, SMAD7, DCN, MMP13

GO Terms for genes affiliated with Localized Scleroderma

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.0DCN, DEFB1, DEFB4A
2extracellular spaceGO:0056158.6MMP13, DCN, TNFSF13B
3extracellular regionGO:0055768.3DEFB4A, DEFB1, DCN, MMP13

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

idNameGO IDScoreTop Affiliating Genes
1chemotaxisGO:0069359.6DEFB1, DEFB4A
2defense response to bacteriumGO:0427429.5DEFB1, DEFB4A
3extracellular matrix disassemblyGO:0226179.1MMP13, DCN
4immune responseGO:0069558.8TNFSF13B, DEFB1, DEFB4A

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:0055189.3DCN, SMAD7

Products for genes affiliated with Localized Scleroderma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Localized 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