DCSSC
MCID: DFF003
MIFTS: 57

Diffuse Scleroderma (DCSSC) malady

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

Summaries for Diffuse Scleroderma

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MalaCards based summary: Diffuse Scleroderma, also known as diffuse cutaneous systemic sclerosis, is related to interstitial lung disease and systemic scleroderma, and has symptoms including dry skin, acrocyanosis and respiratory insufficiency. An important gene associated with Diffuse Scleroderma is CTGF (connective tissue growth factor), and among its related pathways are amb2 Integrin signaling and Development TGF beta receptor signaling. The compounds des-arg(10)-kallidin and kallidin 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:
9Disease Ontology, 42NIH Rare Diseases, 61UMLS, 48Orphanet, 56SNOMED-CT, 34MeSH, 27ICD10 via Orphanet
See all sources

Diffuse Scleroderma, Aliases & Descriptions:

Name: Diffuse Scleroderma 9 42 61
Diffuse Cutaneous Systemic Sclerosis 42 48 61
Diffuse Systemic Sclerosis 9 42 61
Diffuse Cutaneous Systemic Scleroderma 42 48
Sudden Onset Scleroderma 42 61
 
Progressive Cutaneous Systemic Scleroderma 48
Progressive Cutaneous Systemic Sclerosis 48
Systemic Sclerosis, Diffuse 9
Dcssc 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology9 DOID:1580
ICD10 via Orphanet27 M34.0

Related Diseases for Diffuse Scleroderma

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease30.7BMP6, TGFB1
2systemic scleroderma30.5CTGF, IRF5
3skin disease30.3HLA-DRB1, TGFB1
4connective tissue disease30.2TGFB1, HLA-DRB1
5hypertension30.2KNG1, CAV1, TGFB1
6hepatitis30.1TGFB1, HLA-DRB1
7systemic lupus erythematosus30.1HLA-DRB1, FBL, IRF5
8pulmonary fibrosis30.0TGFB1, BMP6, CAV1, FBL, CTGF
9arthritis29.9KNG1, TGFB1, CTGF, HLA-DRB1
10ovarian cancer29.8CAV1, CTGF, BMP6, TGFB1
11breast cancer29.4BMP6, TGFB1, CCR6, CAV1, CTGF
12rheumatoid arthritis29.2CTGF, IRF5, CCR6, BMP6, HLA-DRB1
13scleroderma11.0
14lupus erythematosus10.3
15telangiectasis10.3FBL, BMP6
16telangiectasia, hereditary hemorrhagic, type 510.3TGFB1, BMP6
17crest syndrome10.3
18esophagitis10.3
19ureteral disease10.3TGFB1, CTGF
20myelofibrosis10.3TGFB1, BMP6
21gingival overgrowth10.2CTGF, TGFB1
22biliary atresia10.2CTGF, TGFB1
23malaria10.2HLA-DRB1, KNG1
24microscopic polyangiitis10.2
25bone cancer10.2BMP6, CAV1
26hepatitis b10.1HLA-DRB1, TGFB1
27malignant glioma10.1TGFB1, BMP6, KNG1
28hypertrophic scars10.1TGFB1, CTGF, BMP6
29proliferative vitreoretinopathy10.1TGFB1, CTGF, BMP6
30keloids10.1BMP6, TGFB1, CTGF
31glomerulosclerosis10.1CTGF, BMP6, TGFB1
32primary hyperoxaluria10.1CTGF, KNG1, TGFB1
33idiopathic pulmonary fibrosis10.1CTGF, BMP6, TGFB1
34viral hepatitis10.1HLA-DRB1, CTGF
35cork-handlers' disease10.1BMP6, CTGF, TGFB1
36autoimmune hepatitis10.1
37gastric antral vascular ectasia10.1
38hepatitis a10.1
39steatorrhea10.1
40actinomycosis10.1
41mixed connective tissue disease10.1
42vasculitis10.1
43papular mucinosis10.1
44cytomegalovirus infection10.1
45headache10.1
46endotheliitis10.1
47cryoglobulinemic vasculitis10.1
48atlantoaxial subluxation10.1
49aplastic anemia10.0
50crohn's disease10.0

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



Diseases related to diffuse scleroderma

Symptoms for Diffuse Scleroderma

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Symptoms:

 48 (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

HPO human phenotypes related to Diffuse Scleroderma:

(show all 23)
id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 acrocyanosis hallmark (90%) HP:0001063
3 respiratory insufficiency hallmark (90%) HP:0002093
4 pulmonary infiltrates hallmark (90%) HP:0002113
5 autoimmunity hallmark (90%) HP:0002960
6 xerostomia typical (50%) HP:0000217
7 carious teeth typical (50%) HP:0000670
8 muscle weakness typical (50%) HP:0001324
9 arthritis typical (50%) HP:0001369
10 flexion contracture typical (50%) HP:0001371
11 malabsorption typical (50%) HP:0002024
12 pulmonary fibrosis typical (50%) HP:0002206
13 osteolysis typical (50%) HP:0002797
14 arthralgia typical (50%) HP:0002829
15 feeding difficulties in infancy typical (50%) HP:0008872
16 teleangiectasia of the skin typical (50%) HP:0100585
17 skin ulcer typical (50%) HP:0200042
18 renal insufficiency occasional (7.5%) HP:0000083
19 chondrocalcinosis occasional (7.5%) HP:0000934
20 congestive heart failure occasional (7.5%) HP:0001635
21 nausea and vomiting occasional (7.5%) HP:0002017
22 pulmonary hypertension occasional (7.5%) HP:0002092
23 hypertensive crisis occasional (7.5%) HP:0100735

Drugs & Therapeutics for Diffuse Scleroderma

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Drug clinical trials:

Search ClinicalTrials for Diffuse Scleroderma

Search NIH Clinical Center for Diffuse Scleroderma

Genetic Tests for Diffuse Scleroderma

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Anatomical Context for Diffuse Scleroderma

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MalaCards organs/tissues related to Diffuse Scleroderma:

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

Animal Models for Diffuse Scleroderma or affiliated genes

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MGI Mouse Phenotypes related to Diffuse Scleroderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9CTGF, KNG1, CAV1, CCR6, IRF5, TGFB1

Publications for Diffuse Scleroderma

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Articles related to Diffuse Scleroderma:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Successful treatment of steroid and cyclophosphamide-resistant diffuse scleroderma-associated interstitial lung disease with rituximab. (20058013)
2012
2
Skin thickness progression rate: a predictor of mortality and early internal organ involvement in diffuse scleroderma. (20679474)
2011
3
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. (19812599)
2010
4
Squamous cell carcinomas in 2 patients with diffuse scleroderma treated with mycophenolate mofetil. (19208586)
2009
5
Autologous stem cell transplantation in diffuse scleroderma: impact on hand structure and function. (18336540)
2008
6
High-dose intravenous immunoglobulin infusion as treatment for diffuse scleroderma. (17381465)
2007
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
Increased alpha2-adrenergic constriction of isolated arterioles in diffuse scleroderma. (10943881)
2000
14
Severe organ involvement in systemic sclerosis with diffuse scleroderma. (11083266)
2000
15
Minocycline in early diffuse scleroderma. (9848358)
1998
16
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. (8989070)
1996
17
Thrombotic thrombocytopenic purpura in a patient with diffuse scleroderma. (9251403)
1996
18
Seizures in a patient with diffuse scleroderma. (7494776)
1995
19
Ketotifen-induced remission in progressive early diffuse scleroderma: evidence for the role of mast cells in disease pathogenesis. (2393046)
1990
20
Clinical association of autoantibodies to fibrillarin with diffuse scleroderma and disseminated telangiectasia. (2254467)
1990
21
Progressive systemic sclerosis (diffuse scleroderma) and radiotherapy. (2242481)
1990
22
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. (2787182)
1989
23
Mast cell numbers in diffuse scleroderma. (3813593)
1987
24
Scl-86, a marker antigen for diffuse scleroderma. (3980727)
1985
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
Reversible acute renal faiure in diffuse scleroderma. (7408249)
1980
29
Progressive systemic sclerosis (diffuse scleroderma). A follow-up report of treatment with potaba. (4576830)
1973
30
Esophageal reconstruction for stenosis due to diffuse scleroderma. Utilizing blunt dissection of esophagus. (4783042)
1973
31
Recurrent spontaneous pneumothorax in diffuse scleroderma. Report of a case. (5907810)
1966
32
Electron microscopic observations on skeletal muscle in diffuse scleroderma. (5944482)
1966
33
PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA) TREATMENT WITH POTABA--A PRELIMINARY REPORT. (14297920)
1965
34
THE NERVE NETWORK OF THE SKIN IN DIFFUSE SCLERODERMA AND CLINICALLY SIMILAR CONDITIONS. (14071463)
1963
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
Immunoelectrophoresis of serum in progressive systemic sclerosis (diffuse scleroderma). (13788679)
1961
38
Acrosclerosis: a disease sui generis or a variety of diffuse scleroderma. (13638459)
1959
39
Esophageal involvement in diffuse scleroderma. (13645796)
1959
40
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
41
Musculoskeletal manifestations of systemic lupus erythematosus, polyarteritis nodosa, dermatomyositis and diffuse scleroderma. (13539595)
1958
42
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957
43
Progressive systemic sclerosis; diffuse scleroderma. (13416610)
1957
44
Observations on the use of prednisone in patients with progressive systemic sclerosis (diffuse scleroderma). (13275847)
1956
45
Diffuse scleroderma in an African male. (13097594)
1953
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
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

Variations for Diffuse Scleroderma

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Expression for genes affiliated with Diffuse Scleroderma

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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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Pathways related to Diffuse Scleroderma according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CTGF, KNG1
29.5CAV1, TGFB1
3
Show member pathways
ALK1 pathway37
9.5CAV1, TGFB1
49.4TGFB1, HLA-DRB1
59.4TGFB1, HLA-DRB1
6
Show member pathways
9.3TGFB1, KNG1
79.3KNG1, TGFB1
89.3TGFB1, BMP6
99.2CTGF, CAV1, TGFB1
10
Show member pathways
9.1CAV1, TGFB1, HLA-DRB1
11
Show member pathways
9.0TGFB1, BMP6, CTGF
129.0TGFB1, BMP6, CTGF
13
Show member pathways
9.0CTGF, BMP6, TGFB1
14
Show member pathways
9.0CTGF, BMP6, TGFB1
15
Show member pathways
8.7CTGF, CAV1, BMP6, TGFB1
16
Show member pathways
8.6TGFB1, CCR6, BMP6, CTGF
17
Show member pathways
8.6TGFB1, CCR6, BMP6, CTGF
18
Show member pathways
8.6TGFB1, CCR6, BMP6, CTGF
19
Show member pathways
8.6HLA-DRB1, TGFB1, BMP6, CTGF

Compounds for genes affiliated with Diffuse Scleroderma

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Compounds related to Diffuse Scleroderma according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1des-arg(10)-kallidin4410.1CTGF, KNG1
2kallidin44 2911.0KNG1, CTGF
3aristolochic acid44 310.9CTGF, TGFB1
4tranilast449.7TGFB1, BMP6
5ramipril44 1210.7KNG1, TGFB1
6pirfenidone44 6010.7BMP6, TGFB1
7simvastatin44 50 60 29 25 1214.7CTGF, CAV1, BMP6
85-aza-2deoxycytidine449.7CAV1, BMP6, CTGF
9perindopril44 50 1211.7TGFB1, KNG1
10vitamin e succinate449.6BMP6, TGFB1
11pmma449.6TGFB1, BMP6
12agar449.6BMP6, CAV1, CTGF
13cytochalasin d44 6010.6TGFB1, CAV1, CTGF
14hmba449.5BMP6, TGFB1
15carbachol44 29 1211.5KNG1, CAV1, BMP6
16ang ii449.4TGFB1, CTGF, KNG1
17hydroxyproline44 25 1211.4BMP6, TGFB1, CTGF
18enalapril44 50 1211.4KNG1, BMP6
19procollagen449.4TGFB1, BMP6, CTGF
20tgf beta1449.4CTGF, BMP6, TGFB1
21verapamil44 29 50 25 1213.4KNG1, CAV1, TGFB1
22candesartan44 50 29 1212.3KNG1, TGFB1
23rantes449.2CCR6, BMP6, TGFB1
24sodium nitroprusside449.2BMP6, KNG1, TGFB1
25prostacyclin449.2BMP6, KNG1, CTGF, CAV1
26methotrexate50 44 1211.2HLA-DRB1, TGFB1, BMP6
27matrigel449.2CAV1, BMP6, TGFB1
28heparin44 29 25 1212.2CTGF, BMP6, CAV1, KNG1
29aspirin44 50 29 2512.1TGFB1, KNG1, BMP6
30ribonucleic acid449.1CTGF, BMP6, TGFB1
31bleomycin44 1210.1BMP6, TGFB1, CTGF, CAV1
32ly294002449.1BMP6, CTGF, CAV1, TGFB1
33cyclosporin a44 29 6011.1TGFB1, BMP6, CAV1, CTGF
34phosphatidylinositol449.0CAV1, KNG1, CTGF, BMP6
35dexamethasone44 50 29 1212.0CAV1, CTGF, TGFB1, BMP6
36nitric oxide44 25 1211.0KNG1, CTGF, CAV1, BMP6
37losartan44 50 29 1211.9TGFB1, KNG1, BMP6, CTGF
38nifedipine44 29 50 1211.9CTGF, KNG1, TGFB1, BMP6
39sb 20358044 609.9BMP6, CTGF, TGFB1
40pge2448.9TGFB1, KNG1, BMP6, CTGF
41threonine448.9TGFB1, CAV1, CTGF, BMP6
42indomethacin44 29 60 1211.9KNG1, TGFB1, BMP6
43tamoxifen44 50 29 1211.7CAV1, BMP6, TGFB1
44alanine448.7HLA-DRB1, CAV1, TGFB1, BMP6
45oligonucleotide448.6CAV1, HLA-DRB1, CTGF, TGFB1, BMP6
46arginine448.6KNG1, FBL, HLA-DRB1, CAV1
47cycloheximide448.6CAV1, BMP6, KNG1, CTGF, TGFB1
48vegf448.3TGFB1, IRF5, BMP6, CAV1, CTGF, CCR6
49tyrosine448.3IRF5, CAV1, BMP6, KNG1, CTGF, HLA-DRB1
50serine447.8FBL, TGFB1, CAV1, KNG1, CTGF, BMP6

GO Terms for genes affiliated with Diffuse Scleroderma

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Cellular components related to Diffuse Scleroderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:0306669.7CAV1, HLA-DRB1
2platelet alpha granule lumenGO:0310939.0KNG1, TGFB1
3plasma membraneGO:0058867.7CTGF, HLA-DRB1, TGFB1, CCR6, CAV1, KNG1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:0329679.8CTGF, TGFB1
2response to progesteroneGO:0325709.8TGFB1, CAV1
3positive regulation of peptidyl-serine phosphorylationGO:0331389.7CAV1, TGFB1
4response to woundingGO:0096119.7CTGF, TGFB1
5negative regulation of T cell proliferationGO:0421309.7TGFB1, HLA-DRB1
6positive regulation of protein secretionGO:0507149.6BMP6, TGFB1
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.6TGFB1, BMP6
8interferon-gamma-mediated signaling pathwayGO:0603339.6HLA-DRB1, IRF5
9response to glucoseGO:0097499.6CTGF, TGFB1
10positive regulation of bone mineralizationGO:0305019.6TGFB1, BMP6
11T cell costimulationGO:0312959.6CAV1, HLA-DRB1
12positive regulation of epithelial cell proliferationGO:0506799.4TGFB1, BMP6
13immune responseGO:0069559.3HLA-DRB1, CCR6, BMP6
14MAPK cascadeGO:0001659.2CAV1, TGFB1
15positive regulation of apoptotic processGO:0430659.2KNG1, IRF5, TGFB1
16inflammatory responseGO:0069549.0KNG1, BMP6, TGFB1
17blood coagulationGO:0075969.0KNG1, CAV1, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.0CTGF, BMP6, TGFB1

Products for genes affiliated with Diffuse Scleroderma

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Sources for Diffuse Scleroderma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet