MCID: DFF003
MIFTS: 57

Diffuse Scleroderma malady

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

Aliases & Classifications for Diffuse Scleroderma

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 61UMLS, 56SNOMED-CT, 33MeSH, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Diffuse Scleroderma:

Name: Diffuse Scleroderma 8 42 61
Diffuse Cutaneous Systemic Scleroderma 42 48
Diffuse Cutaneous Systemic Sclerosis 42 48
Dysplastic Cortical Hyperostosis 42 48
Diffuse Systemic Sclerosis 8 42
Kozlowski-Tsuruta Syndrome 42 48
 
Progressive Cutaneous Systemic Scleroderma 48
Progressive Cutaneous Systemic Sclerosis 48
Systemic Sclerosis, Diffuse 8
Sudden Onset Scleroderma 42
Systemic Scleroderma 61
Dcssc 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
diffuse cutaneous systemic scleroderma:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology8 DOID:1580
Orphanet48 2204, 220393
ICD10 via Orphanet26 M89.8, M34.0

Summaries for Diffuse Scleroderma

About this section
MalaCards based summary: Diffuse Scleroderma, also known as diffuse cutaneous systemic scleroderma, 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 drugs chloroquine and chloroquine phosphate and the compounds des-arg(10)-kallidin and kallidin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotype homeostasis/metabolism.

Related Diseases for Diffuse Scleroderma

About this section

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease30.7BMP6, TGFB1
2systemic scleroderma30.4CTGF, IRF5
3skin disease30.3TGFB1, HLA-DRB1
4kidney disease30.2CTGF, KNG1, TGFB1
5hepatitis30.1TGFB1, HLA-DRB1
6systemic lupus erythematosus30.1IRF5, FBL, HLA-DRB1
7connective tissue disease30.0TGFB1, HLA-DRB1
8pulmonary fibrosis30.0CTGF, CAV1, BMP6, TGFB1, FBL
9arthritis29.9HLA-DRB1, TGFB1, KNG1, CTGF
10breast cancer29.4CTGF, CAV1, BMP6, CCR6, TGFB1
11rheumatoid arthritis29.2HLA-DRB1, IRF5, CCR6, BMP6, CTGF
12scleroderma11.0
13hyperostosis10.4
14lupus erythematosus10.3
15telangiectasis10.3FBL, BMP6
16hereditary hemorrhagic telangiectasia10.3BMP6, TGFB1
17crest syndrome10.3
18esophagitis10.3
19dwarfism10.3
20ureteral disease10.3CTGF, TGFB1
21myelofibrosis10.2BMP6, TGFB1
22gingival overgrowth10.2CTGF, TGFB1
23biliary atresia10.2CTGF, TGFB1
24malaria10.2KNG1, HLA-DRB1
25pityriasis rubra pilaris10.2
26microscopic polyangiitis10.2
27bone cancer10.2CAV1, BMP6
28hepatitis b10.1HLA-DRB1, TGFB1
29malignant glioma10.1TGFB1, BMP6, KNG1
30hypertrophic scars10.1TGFB1, BMP6, CTGF
31vitreoretinopathy, neovascular inflammatory10.1CTGF, BMP6, TGFB1
32iga glomerulonephritis10.1BMP6, TGFB1
33keloids10.1CTGF, BMP6, TGFB1
34glomerulosclerosis10.1TGFB1, BMP6, CTGF
35pulmonary fibrosis, idiopathic10.1CTGF, BMP6, TGFB1
36viral hepatitis10.1CTGF, HLA-DRB1
37cork-handlers' disease10.1CTGF, BMP6, TGFB1
38autoimmune hepatitis10.1
39gastric antral vascular ectasia10.1
40steatorrhea10.1
41actinomycosis10.1
42hepatitis a10.1
43mixed connective tissue disease10.1
44vasculitis10.1
45papular mucinosis10.1
46cytomegalovirus infection10.1
47headache10.1
48endotheliitis10.1
49atlantoaxial subluxation10.1
50hypertension, essential10.1KNG1, CAV1, TGFB1

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



Diseases related to diffuse scleroderma

Symptoms for Diffuse Scleroderma

About this section

Symptoms:

 48 (show all 45)
  • microcephaly
  • global upper and lower limbs anomalies
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • structural anomalies of the kidney and the urinary tract
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • osteosclerosis/osteopetrosis/bone condensation
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • cortical anomaly/thick bone cortical layer
  • short stature/dwarfism/nanism
  • stillbirth/neonatal death
  • polyhydramnios
  • hydrops fetalis
  • 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 36)
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 abnormality of the urinary system hallmark (90%) HP:0000079
7 microcephaly hallmark (90%) HP:0000252
8 polyhydramnios hallmark (90%) HP:0001561
9 splenomegaly hallmark (90%) HP:0001744
10 hydrops fetalis hallmark (90%) HP:0001789
11 hepatomegaly hallmark (90%) HP:0002240
12 abnormality of neuronal migration hallmark (90%) HP:0002269
13 skeletal dysplasia hallmark (90%) HP:0002652
14 abnormality of limb bone morphology hallmark (90%) HP:0002813
15 abnormal cortical bone morphology hallmark (90%) HP:0003103
16 short stature hallmark (90%) HP:0004322
17 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
18 increased bone mineral density hallmark (90%) HP:0011001
19 xerostomia typical (50%) HP:0000217
20 carious teeth typical (50%) HP:0000670
21 muscle weakness typical (50%) HP:0001324
22 arthritis typical (50%) HP:0001369
23 flexion contracture typical (50%) HP:0001371
24 malabsorption typical (50%) HP:0002024
25 pulmonary fibrosis typical (50%) HP:0002206
26 osteolysis typical (50%) HP:0002797
27 arthralgia typical (50%) HP:0002829
28 feeding difficulties in infancy typical (50%) HP:0008872
29 teleangiectasia of the skin typical (50%) HP:0100585
30 skin ulcer typical (50%) HP:0200042
31 renal insufficiency occasional (7.5%) HP:0000083
32 chondrocalcinosis occasional (7.5%) HP:0000934
33 congestive heart failure occasional (7.5%) HP:0001635
34 nausea and vomiting occasional (7.5%) HP:0002017
35 pulmonary hypertension occasional (7.5%) HP:0002092
36 hypertensive crisis occasional (7.5%) HP:0100735

Drugs & Therapeutics for Diffuse Scleroderma

About this section

Drug clinical trials:

Search ClinicalTrials for Diffuse Scleroderma

Search NIH Clinical Center for Diffuse Scleroderma

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Diffuse Scleroderma

About this section

Anatomical Context for Diffuse Scleroderma

About this section

MalaCards organs/tissues related to Diffuse Scleroderma:

31
Skin, Bone, Lung, Heart, Kidney, Liver, Skeletal muscle, Breast

Animal Models for Diffuse Scleroderma or affiliated genes

About this section

MGI Mouse Phenotypes related to Diffuse Scleroderma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9CTGF, KNG1, CAV1, CCR6, IRF5, TGFB1

Publications for Diffuse Scleroderma

About this section

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
AN EARLY PULMONARY PHYSIOLOGIC ABNORMALITY IN PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14131880)
1964
35
THE NERVE NETWORK OF THE SKIN IN DIFFUSE SCLERODERMA AND CLINICALLY SIMILAR CONDITIONS. (14071463)
1963
36
A REVIEW OF RECENT OBSERVATIONS AND CURRENT THEORIES ON THE ETIOLOGY AND PATHOGENESIS OF PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14058399)
1963
37
The natural history of progressive systemic sclerosis (diffuse scleroderma). (13974644)
1963
38
Immunoelectrophoresis of serum in progressive systemic sclerosis (diffuse scleroderma). (13788679)
1961
39
Acrosclerosis: a disease sui generis or a variety of diffuse scleroderma. (13638459)
1959
40
Esophageal involvement in diffuse scleroderma. (13645796)
1959
41
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
42
Musculoskeletal manifestations of systemic lupus erythematosus, polyarteritis nodosa, dermatomyositis and diffuse scleroderma. (13539595)
1958
43
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
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

About this section

Expression for genes affiliated with Diffuse Scleroderma

About this section
Search GEO for disease gene expression data for Diffuse Scleroderma.

Pathways for genes affiliated with Diffuse Scleroderma

About this section

Pathways related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CTGF, KNG1
29.5CAV1, TGFB1
3
Show member pathways
ALK1 pathway36
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

About this section

Compounds related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1des-arg(10)-kallidin4410.1CTGF, KNG1
2kallidin44 2811.0KNG1, CTGF
3aristolochic acid44 110.9CTGF, TGFB1
4tranilast449.7TGFB1, BMP6
5ramipril44 1110.7KNG1, TGFB1
6pirfenidone44 6010.7BMP6, TGFB1
7simvastatin44 50 60 28 24 1114.7CTGF, CAV1, BMP6
85-aza-2deoxycytidine449.7CAV1, BMP6, CTGF
9perindopril44 50 1111.7TGFB1, KNG1
10vitamin e succinate449.6BMP6, TGFB1
11pmma449.6TGFB1, BMP6
12agar449.6BMP6, CAV1, CTGF
13cytochalasin d44 6010.6TGFB1, CAV1, CTGF
14hmba449.5BMP6, TGFB1
15carbachol44 28 1111.5KNG1, CAV1, BMP6
16ang ii449.4TGFB1, CTGF, KNG1
17hydroxyproline44 24 1111.4BMP6, TGFB1, CTGF
18enalapril44 50 1111.4KNG1, BMP6
19procollagen449.4TGFB1, BMP6, CTGF
20tgf beta1449.4CTGF, BMP6, TGFB1
21verapamil44 28 50 24 1113.4KNG1, CAV1, TGFB1
22candesartan44 50 28 1112.3KNG1, TGFB1
23rantes449.2CCR6, BMP6, TGFB1
24sodium nitroprusside449.2BMP6, KNG1, TGFB1
25prostacyclin449.2BMP6, KNG1, CTGF, CAV1
26methotrexate50 44 1111.2HLA-DRB1, TGFB1, BMP6
27matrigel449.2CAV1, BMP6, TGFB1
28heparin44 28 24 1112.2CTGF, BMP6, CAV1, KNG1
29aspirin44 50 28 2412.1TGFB1, KNG1, BMP6
30ribonucleic acid449.1CTGF, BMP6, TGFB1
31bleomycin44 1110.1BMP6, TGFB1, CTGF, CAV1
32ly294002449.1BMP6, CTGF, CAV1, TGFB1
33cyclosporin a44 28 6011.1TGFB1, BMP6, CAV1, CTGF
34phosphatidylinositol449.0CAV1, KNG1, CTGF, BMP6
35dexamethasone44 50 28 1112.0CAV1, CTGF, TGFB1, BMP6
36nitric oxide44 24 1111.0KNG1, CTGF, CAV1, BMP6
37losartan44 50 28 1111.9TGFB1, KNG1, BMP6, CTGF
38nifedipine44 28 50 1111.9CTGF, KNG1, TGFB1, BMP6
39sb 20358044 609.9BMP6, CTGF, TGFB1
40pge2448.9TGFB1, KNG1, BMP6, CTGF
41threonine448.9TGFB1, CAV1, CTGF, BMP6
42indomethacin44 28 60 1111.9KNG1, TGFB1, BMP6
43tamoxifen44 50 28 1111.7CAV1, 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

About this section

Cellular components related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:00306669.7CAV1, HLA-DRB1
2platelet alpha granule lumenGO:00310939.0KNG1, TGFB1
3plasma membraneGO:00058867.7CTGF, HLA-DRB1, TGFB1, CCR6, CAV1, KNG1

Biological processes related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:00329679.8CTGF, TGFB1
2response to progesteroneGO:00325709.8TGFB1, CAV1
3positive regulation of peptidyl-serine phosphorylationGO:00331389.7CAV1, TGFB1
4response to woundingGO:00096119.7CTGF, TGFB1
5negative regulation of T cell proliferationGO:00421309.7TGFB1, HLA-DRB1
6positive regulation of protein secretionGO:00507149.6BMP6, TGFB1
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6TGFB1, BMP6
8interferon-gamma-mediated signaling pathwayGO:00603339.6HLA-DRB1, IRF5
9response to glucoseGO:00097499.6CTGF, TGFB1
10positive regulation of bone mineralizationGO:00305019.6TGFB1, BMP6
11T cell costimulationGO:00312959.6CAV1, HLA-DRB1
12positive regulation of epithelial cell proliferationGO:00506799.4TGFB1, BMP6
13immune responseGO:00069559.3HLA-DRB1, CCR6, BMP6
14MAPK cascadeGO:00001659.2CAV1, TGFB1
15positive regulation of apoptotic processGO:00430659.2KNG1, IRF5, TGFB1
16inflammatory responseGO:00069549.0KNG1, BMP6, TGFB1
17blood coagulationGO:00075969.0KNG1, CAV1, TGFB1

Molecular functions related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.0CTGF, BMP6, TGFB1

Sources for Diffuse Scleroderma

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet