DCSSC
MCID: DFF003
MIFTS: 54

Diffuse Scleroderma (DCSSC) malady

Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases categories

Summaries for Diffuse Scleroderma

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32MalaCards
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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 dyspareunia/coital pain/vaginal dryness, autoimmunity/autoimmune reaction/autoantibodies and periarticular tissue anomaly/extraarticular calcifications. 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 skin, lung and bone, and related mouse phenotype homeostasis/metabolism.

Aliases & Classifications for Diffuse Scleroderma

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 48Orphanet, 56SNOMED-CT, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
diffuse cutaneous systemic scleroderma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

diffuse scleroderma 8 42 60
diffuse cutaneous systemic scleroderma 42 48
diffuse cutaneous systemic sclerosis 42 48
diffuse systemic sclerosis 8 42
progressive cutaneous systemic scleroderma 48
progressive cutaneous systemic sclerosis 48
systemic sclerosis, diffuse 8
sudden onset scleroderma 42
dcssc 42


External Ids:

Disease Ontology8 DOID:1580
SNOMED-CT via Orphanet57 128460000
ICD10 via Orphanet26 M34.0

Related Diseases for Diffuse Scleroderma

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Sources:
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 105)
idRelated DiseaseScoreTop Affiliating Genes
1systemic scleroderma31.0CTGF, IRF5
2systemic lupus erythematosus30.2IRF5
3interstitial lung disease30.2BMP6, TGFB1
4hepatitis30.0CAV1
5connective tissue disease30.0BMP6, CTGF, FBL
6pulmonary fibrosis30.0FBL, CTGF, BMP6, TGFB1, CAV1
7dermatomyositis30.0FBL
8skin disease29.9HLA-DRB1, TGFB1
9hypertension29.9TGFB1, KNG1, CAV1
10arthritis29.9CTGF, TGFB1, KNG1, HLA-DRB1
11rheumatoid arthritis29.9HLA-DRB1, BMP6, CCR6, CTGF, IRF5
12scleroderma10.9
13lupus erythematosus10.3
14esophagitis10.2
15limited scleroderma10.1
16pulmonary systemic sclerosis10.1
17mixed connective tissue disease10.0
18diffuse pulmonary fibrosis10.0
19gastric antral vascular ectasia10.0
20steatorrhea10.0
21actinomycosis10.0
22autoimmune hepatitis10.0
23hepatitis a10.0
24crohn's disease10.0
25subcorneal pustular dermatosis10.0
26polyarteritis nodosa10.0
27thrombotic thrombocytopenic purpura10.0
28aplastic anemia10.0
29bilateral breast cancer10.0
30breast cancer10.0
31collagen disease10.0
32kidney disease10.0
33ovarian cancer10.0
34pneumothorax10.0
35purpura10.0
36squamous cell carcinoma10.0
37reynolds syndrome10.0
38marfan syndrome10.0BMP6
39inflammatory bowel disease10.0TGFB1
40thyroiditis10.0HLA-DRB1
41pulmonary disease, chronic obstructive10.0TGFB1
42essential hypertension10.0KNG1
43lupus nephritis10.0TGFB1
44urticaria10.0KNG1
45diabetic retinopathy10.0CTGF
46hemochromatosis10.0BMP6
47nephritis10.0CTGF
48insulin resistance10.0CTGF
49myositis10.0FBL
50glaucoma10.0CTGF

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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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Diffuse Scleroderma

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Sources:
5CenterWatch, 41NIH 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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32MalaCards
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MalaCards organs/tissues related to Diffuse Scleroderma:

32
Skin, Lung, Bone, Heart, Small intestine, Kidney, Skeletal muscle, Breast

Animal Models for Diffuse Scleroderma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Diffuse Scleroderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.2TGFB1, KNG1, ARPC2, CTGF, IRF5, CAV1

Publications for Diffuse Scleroderma

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50PubMed
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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
MicroRNA expression abnormalities in limited cutaneous scleroderma and diffuse cutaneous scleroderma. (22307526)
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
Squamous cell carcinomas in 2 patients with diffuse scleroderma treated with mycophenolate mofetil. (19208586)
2009
11
Subcorneal pustular dermatosis in a patient with rheumatoid arthritis and diffuse scleroderma. (19379649)
2009
12
Autologous stem cell transplantation in diffuse scleroderma: impact on hand structure and function. (18336540)
2008
13
Adenosine A2A receptors in diffuse dermal fibrosis: pathogenic role in human dermal fibroblasts and in a murine model of scleroderma. (16871530)
2006
14
Kidney disease other than renal crisis in patients with diffuse scleroderma. (15801020)
2005
15
The health assessment questionnaire (HAQ) is strongly predictive of good outcome in early diffuse scleroderma: results from an analysis of two randomized controlled trials in early diffuse scleroderma. (14679295)
2004
16
Methotrexate for the treatment of early diffuse scleroderma: comment on the article by Pope et al. (11920427)
2002
17
Unusual overlap of systemic lupus erythematosus and diffuse scleroderma. (11247318)
2001
18
Minocycline in early diffuse scleroderma. (9848358)
1998
19
Thrombotic thrombocytopenic purpura in a patient with diffuse scleroderma. (9251403)
1996
20
Interstitial Lung Disease Developing during Treatment with Cyclosporine in a patient with Diffuse Scleroderma, Aplastic Anemia and Crohn's Disease: Implications for Pathogenesis and Treatment. (19077999)
1995
21
Autonomic dysfunction in diffuse scleroderma vs CREST: an assessment by computerized heart rate variability. (7837149)
1994
22
Clinical association of autoantibodies to fibrillarin with diffuse scleroderma and disseminated telangiectasia. (2254467)
1990
23
Progressive systemic sclerosis (diffuse scleroderma) and radiotherapy. (2242481)
1990
24
Elevated serum levels of soluble interleukin 2 receptor, interleukin 2 and neopterin in diffuse and limited scleroderma: effects of chlorambucil. (2213757)
1990
25
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
26
Myocardial function and perfusion in the CREST syndrome variant of progressive systemic sclerosis. Exercise radionuclide evaluation and comparison with diffuse scleroderma. (6475990)
1984
27
Pulmonary function in progressive systemic sclerosis. Comparison of CREST syndrome variant with diffuse scleroderma. (6628005)
1983
28
Acute diffuse scleroderma. (6165202)
1981
29
Diffuse eosinophilic fasciitis. A new syndrome or variant of Scleroderma? (931403)
1977
30
Progressive systemic sclerosis (diffuse scleroderma). A follow-up report of treatment with potaba. (4576830)
1973
31
Epidemiology of fatal systemic sclerosis (diffuse scleroderma). A 15-year survey in Baltimore. (6025228)
1967
32
PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA) TREATMENT WITH POTABA--A PRELIMINARY REPORT. (14297920)
1965
33
AN EARLY PULMONARY PHYSIOLOGIC ABNORMALITY IN PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14131880)
1964
34
THE NERVE NETWORK OF THE SKIN IN DIFFUSE SCLERODERMA AND CLINICALLY SIMILAR CONDITIONS. (14071463)
1963
35
The natural history of progressive systemic sclerosis (diffuse scleroderma). (13974644)
1963
36
Diffuse systemic scleroderma. A comparison with acrosclerosis. (13923026)
1962
37
Arrested diffuse scleroderma. Report of a case. (13935465)
1962
38
Diffuse scleroderma and Raynaud's disease. (14450537)
1962
39
Diffuse scleroderma. (14461917)
1962
40
Roentgen manifestations in progressive systemic sclerosis (diffuse scleroderma). (13850944)
1960
41
Acrosclerosis: a disease sui generis or a variety of diffuse scleroderma. (13638459)
1959
42
Esophageal involvement in diffuse scleroderma. (13645796)
1959
43
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
44
Musculoskeletal manifestations of systemic lupus erythematosus, polyarteritis nodosa, dermatomyositis and diffuse scleroderma. (13539595)
1958
45
Progressive systemic sclerosis; diffuse scleroderma. (13416610)
1957
46
Observations on the use of prednisone in patients with progressive systemic sclerosis (diffuse scleroderma). (13275847)
1956
47
Diffuse scleroderma, with report of a case showing multiple lesions. (14852204)
1951
48
Esophageal lesions in diffuse scleroderma. (18113050)
1949
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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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:
37NCBI BioSystems Database, 29KEGG, 49PharmGKB, 51QIAGEN
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Compounds for genes affiliated with Diffuse Scleroderma

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

(show all 41)
idCompoundScoreTop Affiliating Genes
1cyclosporin a44 28 5912.5CTGF
2cycloheximide4410.5CAV1
3procollagen4410.4TGFB1
4pge24410.3TGFB1
5des-arg(10)-kallidin4410.1KNG1, CTGF
6kallidin44 2811.1KNG1, CTGF
7aristolochic acid44 210.9CTGF, TGFB1
8tranilast449.8TGFB1, BMP6
9ramipril44 1110.8TGFB1, KNG1
10perindopril44 49 1111.8TGFB1, KNG1
11pirfenidone44 5910.7BMP6, TGFB1
12vitamin e succinate449.7BMP6, TGFB1
13pmma449.7TGFB1, BMP6
14candesartan44 28 1111.6TGFB1, KNG1
15cytochalasin d44 5910.6TGFB1, CTGF, CAV1
16ang ii449.6TGFB1, KNG1, CTGF
17simvastatin44 49 59 28 11 2414.6BMP6, CTGF, CAV1
18enalapril44 49 1111.6BMP6, KNG1
195-aza-2deoxycytidine449.5BMP6, CTGF, CAV1
20hydroxyproline44 11 2411.5CTGF, BMP6, TGFB1
21verapamil44 49 28 11 2413.5TGFB1, KNG1, CAV1
22carbachol44 28 1111.5CAV1, BMP6, KNG1
23tgf beta1449.4TGFB1, BMP6, CTGF
24agar449.4BMP6, CTGF, CAV1
25sodium nitroprusside449.3TGFB1, KNG1, BMP6
26methotrexate44 49 1111.3BMP6, HLA-DRB1, TGFB1
27prostacyclin449.2KNG1, BMP6, CTGF, CAV1
28aspirin44 49 28 2412.2TGFB1, KNG1, BMP6
29bleomycin44 1110.2CAV1, CTGF, BMP6, TGFB1
30ly294002449.1CAV1, CTGF, BMP6, TGFB1
31heparin44 28 11 2412.1CAV1, CTGF, BMP6, KNG1
32ribonucleic acid449.1TGFB1, BMP6, CTGF
33losartan44 49 28 1112.1TGFB1, KNG1, BMP6, CTGF
34nifedipine44 49 28 1112.1CTGF, BMP6, KNG1, TGFB1
35rantes449.0TGFB1, BMP6, CCR6
36oligonucleotide448.8TGFB1, HLA-DRB1, BMP6, CTGF, CAV1
37matrigel448.8TGFB1, BMP6, CAV1
38dexamethasone44 49 28 1111.6CAV1, CTGF, BMP6, TGFB1
39serine448.6CAV1, CTGF, FBL, KNG1, TGFB1
40tyrosine448.5IRF5, CTGF, BMP6, HLA-DRB1, KNG1, CAV1
41vegf448.4CCR6, CAV1, IRF5, CTGF, BMP6, TGFB1

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:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:0329679.7TGFB1, CTGF
2response to progesterone stimulusGO:0325709.6TGFB1, CAV1
3positive regulation of protein secretionGO:0507149.5TGFB1, BMP6
4positive regulation of bone mineralizationGO:0305019.4TGFB1, BMP6
5negative regulation of T cell proliferationGO:0421309.4TGFB1, HLA-DRB1
6positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.3BMP6, TGFB1

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
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Sources for Diffuse 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