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 articular/joint pain/arthralgia, arthritis/synovitis/synovial proliferation and tendon rupture/tendinitis/bursitis/tenosynovitis. 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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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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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)
  • 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
  • osteolysis/osteoclasia/bone destruction/erosions
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • muscle weakness/flaccidity
  • 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
  • anomalies of skin, subcutaneous tissue and mucosae

Drugs & Therapeutics for Diffuse Scleroderma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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, Skeletal muscle, Kidney, 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
Long-term efficacy and safety of maintenance therapy with azathioprine or cyclosporine for interstitial lung disease with diffuse cutaneous scleroderma. (23910623)
2013
2
Reversible posterior leukoencephalopathy in diffuse scleroderma. (20576217)
2010
3
Squamous cell carcinomas in 2 patients with diffuse scleroderma treated with mycophenolate mofetil. (19208586)
2009
4
Adenosine A2A receptors in diffuse dermal fibrosis: pathogenic role in human dermal fibroblasts and in a murine model of scleroderma. (16871530)
2006
5
'Grape-sultana' sign represents a favourable response to aggressive treatment of early diffuse systemic scleroderma. (15958118)
2005
6
A case of diffuse scleroderma successfully treated with high-dose intravenous immune globulin infusion. (15769789)
2005
7
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
8
Bilateral breast cancer associated with diffuse scleroderma. (14659331)
2003
9
Diffuse scleroderma occurring after the use of paclitaxel for ovarian cancer. (12605319)
2003
10
Methotrexate for the treatment of early diffuse scleroderma: comment on the article by Pope et al. (11920427)
2002
11
Unusual overlap of systemic lupus erythematosus and diffuse scleroderma. (11247318)
2001
12
Pseudohypertension in a patient with diffuse scleroderma. (11273902)
2001
13
Pilot study of anti-thymocyte globulin plus mycophenolate mofetil in recent-onset diffuse scleroderma. (11157146)
2001
14
A randomized, controlled trial of methotrexate versus placebo in early diffuse scleroderma. (11407694)
2001
15
Increased alpha2-adrenergic constriction of isolated arterioles in diffuse scleroderma. (10943881)
2000
16
Diffuse and limited cutaneous systemic scleroderma. (10990182)
2000
17
Antimitochondrial antibodies and their significance in diffuse and limited scleroderma. (19078387)
1999
18
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). (9126027)
1997
19
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. (8989070)
1996
20
Seizures in a patient with diffuse scleroderma. (7494776)
1995
21
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
22
Genetic and immunological differences between Japanese patients with diffuse scleroderma and limited scleroderma. (8151564)
1994
23
Autonomic dysfunction in diffuse scleroderma vs CREST: an assessment by computerized heart rate variability. (7837149)
1994
24
A double-blind randomized controlled trial of ketotifen versus placebo in early diffuse scleroderma. (2003858)
1991
25
Ketotifen-induced remission in progressive early diffuse scleroderma: evidence for the role of mast cells in disease pathogenesis. (2393046)
1990
26
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. (2787182)
1989
27
Mast cell numbers in diffuse scleroderma. (3813593)
1987
28
Scl-86, a marker antigen for diffuse scleroderma. (3980727)
1985
29
Physiologic abnormalities of cardiac function in progressive systemic sclerosis with diffuse scleroderma. (6690931)
1984
30
Esophageal reconstruction for stenosis due to diffuse scleroderma. Utilizing blunt dissection of esophagus. (4783042)
1973
31
Chromosomal breakage in diffuse scleroderma. A study of 27 patients. (5125548)
1971
32
Recurrent spontaneous pneumothorax in diffuse scleroderma. Report of a case. (5907810)
1966
33
Electron microscopic observations on skeletal muscle in diffuse scleroderma. (5944482)
1966
34
DIFFUSE SCLERODERMA: UNUSUAL MANIFESTATIONS. (14157792)
1964
35
A REVIEW OF RECENT OBSERVATIONS AND CURRENT THEORIES ON THE ETIOLOGY AND PATHOGENESIS OF PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14058399)
1963
36
The natural history of progressive systemic sclerosis (diffuse scleroderma). (13974644)
1963
37
Scleroderma and its oral manifestations. Report of three cases of progressive systemic sclerosis (diffuse scleroderma). (13950059)
1962
38
Arrested diffuse scleroderma. Report of a case. (13935465)
1962
39
The nature of joint involvement in progressive systemic sclerosis (diffuse scleroderma). (14493143)
1962
40
Immunoelectrophoresis of serum in progressive systemic sclerosis (diffuse scleroderma). (13788679)
1961
41
Roentgen manifestations in progressive systemic sclerosis (diffuse scleroderma). (13850944)
1960
42
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
43
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957
44
Progressive systemic sclerosis; diffuse scleroderma. (13416610)
1957
45
Small intestinal lesions with steatorrhea in diffuse systemic sclerosis (scleroderma). (13405166)
1957
46
Clinical study of visceral lesions and endocrine disturbances in eight cases of diffuse scleroderma. (14830069)
1951
47
Diffuse scleroderma, with report of a case showing multiple lesions. (14852204)
1951
48
Diffuse scleroderma. (15399979)
1950
49
Esophageal lesions in diffuse scleroderma. (18113050)
1949
50
Disseminated lupus erythematosus and diffuse scleroderma. (20252001)
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