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DCSSC
MCID: DFF003
MIFTS: 47

Diffuse Scleroderma (DCSSC) malady

Nephrological, Respiratory, Bone, Skin categories
31 symptoms, 9 genes, 7 tissues, 114 related diseases, clinical trials.

Summaries for Diffuse Scleroderma

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MalaCards: Diffuse Scleroderma, also known as diffuse cutaneous systemic scleroderma, is related to systemic scleroderma and systemic lupus erythematosus, and has symptoms including anomalies of skin, subcutaneous tissue and mucosae, dry/squaly skin/exfoliation and dermal/subcutaneous infiltration/induration. An important gene associated with Diffuse Scleroderma is HLA-DRB1 (major histocompatibility complex, class II, DR beta 1), and among its related pathways are Cytokines and Inflammatory Response and IL12 signaling mediated by STAT4. The compounds cyclosporin a and cycloheximide have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and small intestine.

Aliases & Classifications for Diffuse Scleroderma

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological, Respiratory, Bone, Skin
ICD10: 26


Characteristics (Orphanet epidemiological data):

49
diffuse cutaneous systemic scleroderma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

diffuse scleroderma 8 43 61
diffuse cutaneous systemic scleroderma 43 49
diffuse cutaneous systemic sclerosis 43 49
diffuse systemic sclerosis 8 43
progressive cutaneous systemic scleroderma 49
progressive cutaneous systemic sclerosis 49
systemic sclerosis, diffuse 8
sudden onset scleroderma 43
dcssc 43


External Ids:

Disease Ontology8 DOID:1580
ICD10 via Orphanet26 M34.0

Related Diseases for Diffuse Scleroderma

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17GeneCards, 18GeneDecks
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Diseases related to Diffuse Scleroderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma31.0IRF5, CTGF
2systemic lupus erythematosus30.2IRF5, FBL, HLA-DRB1
3arthritis30.0TGFB1, KNG1, HLA-DRB1, CTGF
4cutaneous sclerosis10.8
5micro syndrome10.2
6microscopic polyangiitis10.2
7limited scleroderma10.2
8pulmonary systemic sclerosis10.2
9mixed connective tissue disease10.1
10diffuse pulmonary fibrosis10.1
11gastric antral vascular ectasia10.1
12steatorrhea10.1
13actinomycosis10.1
14autoimmune hepatitis10.1
15hepatitis d10.1
16conn's syndrome10.1
17n syndrome10.1
18hepatitis a10.1
19papular mucinosis10.1
20cytomegalovirus infection10.1
21headache10.1
22atlantoaxial subluxation10.1
23crohn's disease10.0
24subcorneal pustular dermatosis10.0
25polyarteritis nodosa10.0
26thrombotic thrombocytopenic purpura10.0
27raynaud disease10.0
28aplastic anemia10.0
29bilateral breast cancer10.0
30squamous cell carcinoma10.0
31reynolds syndrome10.0
32spontaneous pneumothorax10.0
33autonomic dysfunction10.0
34pulmonary function10.0
35marfan syndrome10.0BMP6
36essential hypertension10.0KNG1
37dermatomyositis10.0FBL
38myositis10.0FBL
39urticaria10.0KNG1
40thyroiditis10.0HLA-DRB1
41hemochromatosis10.0BMP6
42inflammatory bowel disease10.0TGFB1
43cervical cancer10.0CAV1
44hepatitis10.0CAV1
45lupus nephritis10.0TGFB1
46sarcoma10.0CAV1
47pulmonary disease, chronic obstructive10.0TGFB1
48leprosy10.0HLA-DRB1
49diabetic retinopathy10.0CTGF
50nephritis10.0CTGF

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



Diseases related to diffuse scleroderma

Clinical Features for Diffuse Scleroderma

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49Orphanet
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Symptoms:

49 (show all 31)
  • anomalies of skin, subcutaneous tissue and mucosae
  • dry/squaly skin/exfoliation
  • dermal/subcutaneous infiltration/induration
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • radiologic lung abnormalities/changes
  • lung/pulmonary infiltrates
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • autoimmunity/autoimmune reaction/autoantibodies
  • mouth dryness/xerostomia
  • multiple caries
  • chronic skin infection/ulcerations/ulcers/cancrum
  • telangiectasiae of the skin
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • malabsorption/chronic diarrhea/steatorrhea
  • lung fibrosis
  • dyspareunia/coital pain/vaginal dryness
  • muscle weakness/flaccidity
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • osteolysis/osteoclasia/bone destruction/erosions
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intestinal transit disorder
  • pulmonary hypertension
  • heart/cardiac failure
  • acute arterial hypertension/hypertensive crisis
  • renal failure
  • periarticular tissue anomaly/extraarticular calcifications

Drugs & Therapeutics for Diffuse Scleroderma

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Diffuse Scleroderma

Drug clinical trials:

Search ClinicalTrials for Diffuse Scleroderma

Search NIH Clinical Center for Diffuse Scleroderma

Search CenterWatch for Diffuse Scleroderma

Genetic Tests for Diffuse Scleroderma

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Anatomical Context for Diffuse Scleroderma

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33MalaCards
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MalaCards organs/tissues related to Diffuse Scleroderma:

33
Heart, Skeletal muscle, Small intestine, Kidney, Lung, Breast, Skin

Animal Models for Diffuse Scleroderma or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Diffuse Scleroderma

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51PubMed
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Articles related to Diffuse Scleroderma:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Evidence-based management of hand and mouth disability in a woman living with diffuse systemic sclerosis (scleroderma). (24396157)
2013
2
Subcutaneous calcifications in a patient with diffuse scleroderma. (23910621)
2013
3
Successful treatment of steroid and cyclophosphamide-resistant diffuse scleroderma-associated interstitial lung disease with rituximab. (20058013)
2012
4
Patterns and predictors of change in outcome measures in clinical trials in scleroderma: an individual patient meta-analysis of 629 subjects with diffuse cutaneous systemic sclerosis. (22328195)
2012
5
Imatinib mesylate in scleroderma-associated diffuse skin fibrosis: a phase II multicentre randomized double-blinded controlled trial. (23039171)
2012
6
Skin thickness progression rate: a predictor of mortality and early internal organ involvement in diffuse scleroderma. (20679474)
2011
7
Adiponectin expression is decreased in the involved skin and sera of diffuse cutaneous scleroderma patients. (21615510)
2011
8
Hearing loss in diffuse cutaneous systemic scleroderma. (21916804)
2011
9
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. (19812599)
2010
10
Autologous stem cell transplantation in diffuse scleroderma: impact on hand structure and function. (18336540)
2008
11
Current approaches to the management of early active diffuse scleroderma skin disease. (18329538)
2008
12
High-dose intravenous immunoglobulin infusion as treatment for diffuse scleroderma. (17381465)
2007
13
Kidney disease other than renal crisis in patients with diffuse scleroderma. (15801020)
2005
14
Diffuse scleroderma occurring after the use of paclitaxel for ovarian cancer. (12605319)
2003
15
Pitting oedema in early diffuse systemic scleroderma. (11688491)
2001
16
Severe organ involvement in systemic sclerosis with diffuse scleroderma. (11083266)
2000
17
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. (19078387)
1999
18
Minocycline in early diffuse scleroderma. (9848358)
1998
19
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. (8989070)
1996
20
Thrombotic thrombocytopenic purpura in a patient with diffuse scleroderma. (9251403)
1996
21
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. (8151564)
1994
22
Progressive systemic sclerosis (diffuse scleroderma) and radiotherapy. (2242481)
1990
23
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. (2213757)
1990
24
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. (2787182)
1989
25
Mast cell numbers in diffuse scleroderma. (3813593)
1987
26
Pharmacodynamic effect of dipyridamole on thallium-201 myocardial perfusion in progressive systemic sclerosis with diffuse scleroderma. (3490227)
1986
27
Scl-86, a marker antigen for diffuse scleroderma. (3980727)
1985
28
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
29
Myocardial function and perfusion in the CREST syndrome variant of progressive systemic sclerosis. Exercise radionuclide evaluation and comparison with diffuse scleroderma. (6475990)
1984
30
Pulmonary function in progressive systemic sclerosis. Comparison of CREST syndrome variant with diffuse scleroderma. (6628005)
1983
31
Acute diffuse scleroderma. (6165202)
1981
32
Reversible acute renal faiure in diffuse scleroderma. (7408249)
1980
33
Diffuse eosinophilic fasciitis. A new syndrome or variant of Scleroderma? (931403)
1977
34
Progressive systemic sclerosis (diffuse scleroderma). A follow-up report of treatment with potaba. (4576830)
1973
35
Epidemiology of fatal systemic sclerosis (diffuse scleroderma). A 15-year survey in Baltimore. (6025228)
1967
36
PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA) TREATMENT WITH POTABA--A PRELIMINARY REPORT. (14297920)
1965
37
AN EARLY PULMONARY PHYSIOLOGIC ABNORMALITY IN PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14131880)
1964
38
THE NERVE NETWORK OF THE SKIN IN DIFFUSE SCLERODERMA AND CLINICALLY SIMILAR CONDITIONS. (14071463)
1963
39
Diffuse systemic scleroderma. A comparison with acrosclerosis. (13923026)
1962
40
An historical account of the study of progressive systemic sclerosis (diffuse scleroderma). (14493141)
1962
41
Diffuse scleroderma and Raynaud's disease. (14450537)
1962
42
Diffuse scleroderma. (14461917)
1962
43
Acrosclerosis: a disease sui generis or a variety of diffuse scleroderma. (13638459)
1959
44
Esophageal involvement in diffuse scleroderma. (13645796)
1959
45
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957
46
Observations on the use of prednisone in patients with progressive systemic sclerosis (diffuse scleroderma). (13275847)
1956
47
Diffuse scleroderma in an African male. (13097594)
1953
48
Clinical study of visceral lesions and endocrine disturbances in eight cases of diffuse scleroderma. (14830069)
1951
49
Clinical study of visceral lesions and endocrine disturbances in eight cases with diffuse scleroderma. (18100851)
1948
50
Diffuse scleroderma with involvement of the heart; report of a case. (20286355)
1947

Genetic Variations for Diffuse Scleroderma

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Expression for genes affiliated with Diffuse Scleroderma

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diffuse Scleroderma

Search GEO for disease gene expression data for Diffuse Scleroderma.

Pathways for genes affiliated with Diffuse Scleroderma

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Sources:
38NCBI BioSystems Database, 30KEGG, 50PharmGKB, 52QIAGEN
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Pathways related to Diffuse Scleroderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cytokines and Inflammatory Response38
9.6HLA-DRB1, TGFB1
2
IL12 signaling mediated by STAT438
9.6TGFB1, HLA-DRB1
3
Hippo signaling pathway30
9.6CTGF, TGFB1
4
ALK1 signaling events38
9.5TGFB1, CAV1
5
Syndecan-2-mediated signaling events38
9.5TGFB1, KNG1
6
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics50
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9.5KNG1, TGFB1
7
TGF-beta receptor signaling38
9.2CAV1, CTGF, TGFB1
8
NF-KappaB Family Pathway52
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9.1CTGF, TGFB1, BMP6
9
GPCR Pathway52
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8.8TGFB1, HLA-DRB1, BMP6, CTGF
10
Nanog in Mammalian ESC Pluripotency52
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8.7CAV1, CTGF, TGFB1, BMP6

Compounds for genes affiliated with Diffuse Scleroderma

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Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 2BitterDB, 24HMDB
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Compounds related to Diffuse Scleroderma according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1cyclosporin a45 29 6012.5CTGF
2cycloheximide4510.5CAV1
3procollagen4510.4TGFB1
4pge24510.4TGFB1
5des-arg(10)-kallidin4510.1KNG1, CTGF
6kallidin45 2911.1KNG1, CTGF
7tamoxifen45 50 29 1113.0TGFB1
8aristolochic acid45 211.0CTGF, TGFB1
9ramipril45 1110.9KNG1, TGFB1
10tranilast459.8BMP6, TGFB1
11perindopril45 50 1111.8KNG1, TGFB1
12pirfenidone45 6010.8BMP6, TGFB1
13candesartan45 29 1111.8KNG1, TGFB1
14vitamin e succinate459.8BMP6, TGFB1
15pmma459.7TGFB1, BMP6
16enalapril45 50 1111.7BMP6, KNG1
17ang ii459.6CTGF, KNG1, TGFB1
18cytochalasin d45 6010.6CAV1, TGFB1, CTGF
19simvastatin45 50 60 29 11 2414.6CAV1, CTGF, BMP6
205-aza-2deoxycytidine459.5CAV1, BMP6, CTGF
21hydroxyproline45 11 2411.5TGFB1, CTGF, BMP6
22agar459.5CAV1, BMP6, CTGF
23verapamil45 50 29 11 2413.5KNG1, TGFB1, CAV1
24carbachol45 29 1111.5CAV1, KNG1, BMP6
25tgf beta1459.5BMP6, TGFB1, CTGF
26methotrexate45 50 1111.4BMP6, HLA-DRB1, TGFB1
27sodium nitroprusside459.4TGFB1, BMP6, KNG1
28aspirin45 50 29 2412.3BMP6, KNG1, TGFB1
29ribonucleic acid459.3CTGF, BMP6, TGFB1
30matrigel459.2CAV1, TGFB1, BMP6
31prostacyclin459.2KNG1, BMP6, CAV1, CTGF
32bleomycin45 1110.1CAV1, CTGF, BMP6, TGFB1
33heparin45 29 11 2412.1CAV1, KNG1, CTGF, BMP6
34ly294002459.1CAV1, CTGF, BMP6, TGFB1
35losartan45 50 29 1112.1CTGF, KNG1, TGFB1, BMP6
36nifedipine45 50 29 1112.1TGFB1, CTGF, KNG1, BMP6
37indomethacin45 60 29 1112.0KNG1, BMP6, TGFB1
38sb 20358045 6010.0BMP6, CTGF, TGFB1
39dexamethasone45 50 29 1111.9BMP6, CTGF, TGFB1, CAV1
40phosphatidylinositol458.9CAV1, BMP6, KNG1, CTGF
41arginine458.9CAV1, HLA-DRB1, FBL, KNG1
42nitric oxide45 11 2410.9CAV1, CTGF, KNG1, BMP6
43oligonucleotide458.8TGFB1, BMP6, CTGF, CAV1, HLA-DRB1
44vegf458.7CTGF, CAV1, BMP6, TGFB1, IRF5
45threonine458.7CTGF, CAV1, BMP6, TGFB1
46serine458.5KNG1, TGFB1, CAV1, CTGF, FBL
47tyrosine458.5CTGF, KNG1, HLA-DRB1, BMP6, CAV1, IRF5
48alanine458.4TGFB1, CAV1, BMP6, HLA-DRB1

GO Terms for genes affiliated with Diffuse Scleroderma

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16Gene Ontology
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Biological processes related to Diffuse Scleroderma according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:0329679.8TGFB1, CTGF
2response to progesterone stimulusGO:0325709.6TGFB1, CAV1
3positive regulation of protein secretionGO:0507149.5TGFB1, BMP6
4negative regulation of T cell proliferationGO:0421309.5TGFB1, HLA-DRB1
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.4BMP6, TGFB1
6positive regulation of bone mineralizationGO:0305019.1TGFB1, BMP6
7positive regulation of apoptotic processGO:0430659.1TGFB1, KNG1, IRF5

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.1TGFB1, BMP6, CTGF

Products for genes affiliated with Diffuse Scleroderma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diffuse Scleroderma

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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
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