PSS
MCID: SYS005
MIFTS: 69

Systemic Scleroderma (PSS) malady

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

Summaries for Systemic Scleroderma

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. it is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. the fibrosis results from the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body. the signs and symptoms of systemic scleroderma usually begin with episodes of raynaud's phenomenon, which can occur weeks to years before fibrosis. this may be followed by puffy or swollen hands before the skin becomes thickened and hard. fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. the most commonly affected organs are the esophagus, heart, lungs, and kidneys.there are three types of systemic scleroderma, defined by the tissues affected in the disorder. limited scleroderma  diffuse scleroderma  sine scleroderma last updated: 1/30/2013

MalaCards: Systemic Scleroderma, also known as systemic sclerosis, is related to connective tissue disease and lupus erythematosus, and has symptoms including myalgia/muscular pain, arthritis/synovitis/synovial proliferation and periarticular tissue anomaly/extraarticular calcifications. An important gene associated with Systemic Scleroderma is HOXD13 (homeobox D13). The drugs chloroquine and chloroquine phosphate and the compounds agarose and tuberculin have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart.

Disease Ontology:8 A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.

Genetics Home Reference:21 Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.

MedlinePlus:33 Scleroderma means hard skin. it is a group of diseases that cause abnormal growth of connective tissue. connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. in scleroderma, the tissue gets hard or thick. it can cause swelling or pain in your muscles and joints. symptoms of scleroderma include calcium deposits in connective tissues raynaud's phenomenon, a narrowing of blood vessels in the hands or feet swelling of the esophagus, the tube between your throat and stomach thick, tight skin on your fingers red spots on your hands and face no one knows what causes scleroderma. it is more common in women. it can be mild or severe. doctors diagnose scleroderma using your medical history, a physical exam, lab tests, and a skin biopsy. there is no cure, but various treatments can control symptoms and complications. nih: national institute of arthritis and musculoskeletal and skin diseases

Wikipedia:63 Systemic sclerosis or systemic scleroderma is an autoimmune or connective tissue disease. It is... more...

Description from OMIM:46 181750

Aliases & Classifications for Systemic Scleroderma

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 34MeSH, 27ICD9CM, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
scleroderma:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Elderly
systemic scleroderma:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

systemic scleroderma 8 42 21 10 48 30 60
systemic sclerosis 8 42 21 48 46
scleroderma 8 42 48 33 60
progressive systemic sclerosis 8 42
scleroderma, familial progressive 60
familial progressive scleroderma 21
progressive scleroderma 21
scleroderma, systemic 42
scleroderma syndrome 8
scleroderma disease 44
sclerosis systemic 44
pss 8


External Ids:

Disease Ontology8 DOID:418
MeSH34 D012595
ICD9CM27 710.1
NCIt39 C72070
SNOMED-CT via Orphanet57 89155008
ICD10 via Orphanet26 M34.0, M34.1, M34.2 M34.8, M34.9, L94.0, P83.8, more
UMLS via Orphanet61 C0011644
OMIM46 181750
ICD1025 M34, M34.0

Related Diseases for Systemic Scleroderma

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17GeneCards, 18GeneDecks
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Diseases in the Systemic Scleroderma family:

Localized Scleroderma Scleroderma
Juvenile Scleroderma

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

(show top 50)    (show all 366)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue disease30.7APOH, CD19
2lupus erythematosus30.5APOH
3systemic lupus erythematosus30.5IRF5, FAM167A
4hepatitis c30.0FBL, FBLL1
5telangiectasis29.9CENPB, FBL
6arthritis29.8MIF
7collagen disease29.8SFTPD, APOH
8pulmonary fibrosis29.8SFTPD, FBL
9rheumatoid arthritis29.8IRF5, SFTPD, APOH, MIF, CD19, HOXD13
10sarcoidosis29.6MIF, ADA, SFTPD
11scleroderma11.1
12interstitial lung disease10.5
13localized scleroderma10.5
14mixed connective tissue disease10.4
15diffuse scleroderma10.4
16peeling skin syndrome10.4
17skin disease10.3
18potocki-shaffer syndrome10.3
19graft versus host disease10.3
20vasculitis10.3
21linear scleroderma10.3
22melorheostosis10.3
23renal hypertension10.3
24limited scleroderma10.3
25calcinosis10.3
26pulmonary systemic sclerosis10.2
27glomerulonephritis10.2
28crescentic glomerulonephritis10.2
29breast cancer10.2
30myositis10.2
31idiopathic pulmonary fibrosis10.2
32pneumonia10.2
33purpura10.2
34megacolon10.2
35idiopathic interstitial pneumonia10.1
36cerebritis10.1
37pneumatosis cystoides intestinalis10.1
38progeria10.1
39vitiligo10.1
40hepatitis10.1
41malignant hypertension10.1
42myopathy10.1
43vascular disease10.1
44neuropathy10.1
45bronchiolitis obliterans10.1
46bronchiolitis10.1
47primary biliary cirrhosis10.1
48panniculitis10.1
49dermatomyositis10.1
50diabetes mellitus10.1

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



Diseases related to systemic scleroderma

Clinical Features for Systemic Scleroderma

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

181750

Symptoms:

48 (show all 89)
  • myalgia/muscular pain
  • arthritis/synovitis/synovial proliferation
  • periarticular tissue anomaly/extraarticular calcifications
  • autoimmunity/autoimmune reaction/autoantibodies
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • articular/joint pain/arthralgia
  • limited opening of the mouth
  • mouth dryness/xerostomia
  • multiple caries
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • telangiectasiae of the skin
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • anomalies of skin, subcutaneous tissue and mucosae
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • abnormal scarring/cheloids/hypertrophic scars
  • cutaneous edema
  • tight skin/lack of elasticity
  • dermal/subcutaneous infiltration/induration
  • vascular anomalies of skin/mucosae
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • thoracic/chest pain
  • cough
  • gingivorrhagia/gingival bleeding
  • telangiectasiae of mucosae
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • angor pectoris/myocardial infarction
  • acute arterial hypertension/hypertensive crisis
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • impotence/painful erection/priapism/erection troubles
  • peripheral neuropathy
  • facial pain/cephalalgia/migraine
  • seizures/epilepsy/absences/spasms/status epilepticus
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • joint/articular deformation
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • pulmonary hypertension
  • encopresis/fecal incontinence
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • malabsorption/chronic diarrhea/steatorrhea
  • lung/pulmonary infiltrates
  • lung fibrosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • myocardium anomalies/myocarditis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • gangrena/necrosis
  • dyspareunia/coital pain/vaginal dryness
  • myositis
  • musculo-tendinous retractions
  • microstomia/little mouth
  • irregular/in bands/reticular skin hyperpigmentation
  • chronic arterial hypertension
  • oral mucosa disease/cheilitis
  • muscle weakness/flaccidity
  • urticaria
  • irregular/patchy skin hypopigmentation
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • anomalies of tongue, gingiva and oral mucosa
  • gingivitis
  • dry/squaly skin/exfoliation
  • thick skin/pachydermia/orange skin
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • structural anomalies of the digestive tract
  • stomach/gastric anomaly
  • acute abdominal pain/colic
  • cardiomyopathy/hypertrophic/dilated
  • heart/cardiac failure
  • renal failure
  • hematuria/microhematuria
  • troubles of memory/amnesia/hypermnesia
  • psychic/behavioural troubles
  • cirrhosis
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • respiratory rhythm disorder
  • renal disease/nephropathy
  • recurrent urinary infections
  • cranial nerves palsy
  • nerve conduction abnormality
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • anus/rectum anomalies

Drugs & Therapeutics for Systemic Scleroderma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Systemic Scleroderma

Drug clinical trials:

Search ClinicalTrials for Systemic Scleroderma

Search NIH Clinical Center for Systemic Scleroderma

Search CenterWatch for Systemic Scleroderma

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Systemic Scleroderma cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Systemic Scleroderma:
Hematopoietic stem cells for systemic sclerosis

Genetic Tests for Systemic Scleroderma

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Anatomical Context for Systemic Scleroderma

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32MalaCards
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MalaCards organs/tissues related to Systemic Scleroderma:

32
Skin, Lung, Heart, Testes, Kidney, Bone, Tongue, Endothelial, Liver, T cells, Breast, Small intestine, Monocytes

Animal Models for Systemic Scleroderma or affiliated genes

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Publications for Systemic Scleroderma

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50PubMed
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Articles related to Systemic Scleroderma:

(show top 50)    (show all 385)
idTitleAuthorsYear
1
Sex and time to diagnosis in systemic sclerosis: an updated analysis of 1,129 patients from the Canadian Scleroderma Research Group Registry. (24144459)
2013
2
Validation of the scleroderma health assessment questionnaire and quality of life in English and Chinese-speaking patients with systemic sclerosis. (22709488)
2012
3
Serum leptin, resistin and TNF-I+ levels in patients with systemic sclerosis: the role of adipokines in scleroderma. (22898217)
2012
4
Coexistence of anti-RNA polymerase III and anti-U1RNP antibodies in patients with systemic lupus erythematosus: two cases without features of scleroderma. (22025191)
2012
5
Bone density in Moroccan women with systemic scleroderma and its relationships with disease-related parameters and vitamin D status. (21947376)
2012
6
A rare association of localized scleroderma type morphea, vitiligo, autoimmune hypothyroidism, pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case report. (23256875)
2012
7
Hypertrophic pachymeningitis in systemic sclerosis sine scleroderma. (23083046)
2012
8
Cardiac arrhythmia as a side effect of ketanserin therapy in a patient with systemic scleroderma. (22507478)
2012
9
Scleroderma renal crisis precipitated by steroid treatment in systemic lupus erythematosus and scleroderma overlap syndrome. (22967254)
2012
10
Systemic sclerosis sine scleroderma and calcinosis cutis: report of a rare case. (19834761)
2010
11
Antibodies to enzymes of purine metabolism as a factor of gastrointestinal tract lesions in systemic scleroderma]. (19551958)
2009
12
Pulmonary artery hypertension as the presenting feature of systemic sclerosis sine scleroderma. (18603658)
2008
13
Chronic toxicity risk after radiotherapy for patients with systemic sclerosis (systemic scleroderma) or systemic lupus erythematosus: association with connective tissue disorder severity. (18158195)
2008
14
Collagen degradation products and proinflammatory cytokines in systemic and localized scleroderma. (17448296)
2007
15
Platelet activation in patients with systemic scleroderma--pattern and significance. (18333373)
2007
16
Effects of a nonsurgical exercise program on the decreased mouth opening in patients with systemic scleroderma. (14513305)
2003
17
Systemic scleroderma patients have improved skin perfusion after the transdermal application of PGE1 ethyl ester. (12945100)
2003
18
Increased circulating concentrations of the counteradhesive proteins SPARC and thrombospondin-1 in systemic sclerosis (scleroderma). Relationship to platelet and endothelial cell activation. (12465153)
2002
19
Unusual overlap of systemic lupus erythematosus and diffuse scleroderma. (11247318)
2001
20
Von Willebrand factor propeptide as a marker of disease activity in systemic sclerosis (scleroderma). (11299058)
2001
21
Double-blind, placebo-controlled study of oral calcitriol for the treatment of localized and systemic scleroderma. (11100017)
2000
22
Increased cutaneous immunoreactive stem cell factor expression and serum stem cell factor level in systemic scleroderma. (10342750)
1998
23
Circulatory system in children with localized scleroderma. (9142712)
1997
24
Autoantibodies to topoisomerase I in a patient with systemic lupus erythematosus without features of scleroderma. (8528230)
1995
25
Clinical aspects of systemic and localized scleroderma. (7865385)
1994
26
Serum ELAM-1 is increased in vasculitis, scleroderma, and systemic lupus erythematosus. (7687701)
1993
27
Systemic sclerosis (scleroderma) associated with discoid lupus erythematosus. (8219419)
1993
28
Control of fibrosis in systemic scleroderma. (8423407)
1993
29
An analysis of the hormonal response during the performance of stress tests in patients with systemic lupus erythematosus and systemic scleroderma]. (1333648)
1992
30
Current options for the treatment of systemic scleroderma. (1999084)
1991
31
Hemolytic-uremic syndrome with anticardiolipin antibodies revealing paraneoplastic systemic scleroderma. (1758545)
1991
32
Scleroderma and central nervous system vasculitis. (2003313)
1991
33
Linear scleroderma and systemic lupus erythematosus. (2254911)
1990
34
Progressive systemic scleroderma in an infant with partial phenylketonuria. (2516181)
1989
35
Systemic scleroderma. (2671539)
1989
36
Osteolysis of the shaft of tubular bones in systemic scleroderma. (3851707)
1985
37
Cardiac involvement in mixed connective tissue disease. A fatal case of scleroderma combined with systemic lupus erythematosus. (4060033)
1985
38
Vitiligolike macules in systemic scleroderma. (6337560)
1983
39
The arthropathy of systemic sclerosis (scleroderma); comparison with mixed connective tissue disease. (6335854)
1983
40
Collagen heterogeneity in systemic scleroderma and other diseases. (479767)
1979
41
Initial change of glycosaminoglycans in systemic scleroderma. (127727)
1975
42
Gastrointestinal manifestations of progressive systemic scleroderma based on a review of 364 cases. (4537959)
1972
43
Systemic scleroderma and massive infarction of intestine and liver. (5007169)
1972
44
Gastrointestinal involvement in systemic scleroderma. (5670091)
1968
45
A REVIEW OF RECENT OBSERVATIONS AND CURRENT THEORIES ON THE ETIOLOGY AND PATHOGENESIS OF PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14058399)
1963
46
Immunoelectrophoresis of serum in progressive systemic sclerosis (diffuse scleroderma). (13788679)
1961
47
Cardiac and renal manifestations in progressive systemic scleroderma. (13645797)
1959
48
Treatment os systemic scleroderma. (13645793)
1959
49
Progressive systemic sclerosis; diffuse scleroderma. (13416610)
1957
50
Generalized scleroderma (systemic scleroderma). (13324328)
1955

Genetic Variations for Systemic Scleroderma

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Expression for genes affiliated with Systemic Scleroderma

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

Search GEO for disease gene expression data for Systemic Scleroderma.

Pathways for genes affiliated with Systemic Scleroderma

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Compounds for genes affiliated with Systemic Scleroderma

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44Novoseek
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Compounds related to Systemic Scleroderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose4410.3APOH, UBTF, SFTPD
2tuberculin4410.0ADA, MIF

GO Terms for genes affiliated with Systemic Scleroderma

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of mature B cell apoptotic processGO:00290610.3ADA, MIF
2negative regulation of myeloid cell apoptotic processGO:03303310.2MIF, APOH
3rRNA processingGO:00636410.2FBL, FBLL1, EXOSC9
4tRNA processingGO:0080339.9RPP30, FBLL1, FBL

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00368210.2CENPA, CENPB, HOXD13, APITD1

Products for genes affiliated with Systemic Scleroderma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Systemic 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