PSS
MCID: SYS005
MIFTS: 63

Systemic Scleroderma (PSS) malady

Nephrological, Respiratory, Bone, Skin, Genetic categories

Summaries for Systemic Scleroderma

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 systemic lupus erythematosus and telangiectasis, and has symptoms including oral mucosa disease/cheilitis, mouth dryness/xerostomia and anomalies of tongue, gingiva and oral mucosa. An important gene associated with Systemic Scleroderma is HOXD13 (homeobox D13). The drugs chloroquine and epoprostenol and the compounds agarose and tuberculin have been mentioned in the context of this disorder. Affiliated tissues include heart, small intestine and kidney.

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:34 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:64 Systemic sclerosis or systemic scleroderma is an autoimmune or connective tissue disease. It is... more...

Description from OMIM:47 181750

Aliases & Classifications for Systemic Scleroderma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 34MedlinePlus, 61UMLS, 21Genetics Home Reference, 10DISEASES, 31LifeMap Discovery™, 47OMIM, 45Novoseek, 35MeSH, 27ICD9CM, 57SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Respiratory, Bone, Skin


Characteristics (Orphanet epidemiological data):

49
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 43 21 10 49 31 61
systemic sclerosis 8 43 21 49 47
scleroderma 8 43 49 34 61
progressive systemic sclerosis 8 43
scleroderma, familial progressive 61
familial progressive scleroderma 21
progressive scleroderma 21
scleroderma, systemic 43
scleroderma syndrome 8
scleroderma disease 45
sclerosis systemic 45
pss 8


External Ids:

Disease Ontology8 DOID:418
MeSH35 D012595
ICD9CM27 710.1
NCIt40 C72070
ICD10 via Orphanet26 M34
SNOMED-CT via Orphanet58 89155008
UMLS via Orphanet62 C0011644
OMIM47 181750
ICD1025 M34, M34.0

Related Diseases for Systemic Scleroderma

Sources:
17GeneCards, 18GeneDecks
See all sources

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 332)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus30.6IRF5, FAM167A
2telangiectasis30.0CENPB, FBL
3hepatitis c30.0FBL, FBLL1
4rheumatic disease30.0CENPA, CENPB, APOH
5arthritis29.9MIF
6polymyositis29.9FBL, HARS, SFTPD
7linear scleroderma10.9
8localized scleroderma10.5
9mixed connective tissue disease10.4
10diffuse scleroderma10.4
11peeling skin syndrome10.4
12potocki-shaffer syndrome10.3
13graft versus host disease10.3
14vasculitis10.3
15melorheostosis10.3
16limited scleroderma10.3
17juvenile scleroderma10.3
18pulmonary systemic sclerosis10.3
19crescentic glomerulonephritis10.2
20idiopathic pulmonary fibrosis10.2
21scleredema10.2
22carcinoid syndrome10.2
23cutaneous sclerosis10.2
24scleromyxedema10.2
25pneumatosis cystoides intestinalis10.1
26progeria10.1
27vascular disease10.1
28chronic graft versus host disease10.1
29thyroiditis10.1
30micro syndrome10.1
31microscopic polyangiitis10.1
32overlap myositis10.1
33bronchiolitis obliterans10.1
34bronchiolitis10.1
35primary biliary cirrhosis10.1
36squamous cell carcinoma10.1
37progressive hemifacial atrophy10.1
38stiff skin syndrome10.1
39pulmonary function10.1
40esophageal candidiasis10.0
41mitral valve prolapse10.0
42ankylosing spondylitis10.0
43epidermolytic hyperkeratosis10.0
44pulmonary sarcoidosis10.0
45dermatofibrosarcoma10.0
46rapidly progressive glomerulonephritis10.0
47osteoarthritis10.0
48rectal prolapse10.0
49t lymphocyte deficiency10.0
50multicentric reticulohistiocytosis10.0

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



Diseases related to systemic scleroderma

Clinical Features for Systemic Scleroderma

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

181750

Symptoms:

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

Drugs & Therapeutics for Systemic Scleroderma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

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

Anatomical Context for Systemic Scleroderma

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Systemic Scleroderma:

33
Heart, Small intestine, Kidney, Liver, Lung, Breast, Skin, Monocytes, T cells, B cells, Endothelial

Animal Models for Systemic Scleroderma or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Systemic Scleroderma

Sources:
51PubMed
See all sources

Articles related to Systemic Scleroderma:

(show top 50)    (show all 378)
idTitleAuthorsYear
1
Evidence-based management of hand and mouth disability in a woman living with diffuse systemic sclerosis (scleroderma). (24396157)
2013
2
The downregulation of microRNA let-7a contributes to the excessive expression of type I collagen in systemic and localized scleroderma. (23509348)
2013
3
Antiphospholipid antibodies and systemic scleroderma. (24385750)
2013
4
Increased serum soluble CD147 levels in patients with systemic sclerosis: association with scleroderma renal crisis. (22298186)
2012
5
The optimal management of patients with systemic scleroderma and coronary artery disease. (22774391)
2012
6
Nodular/keloidal scleroderma: acquired collagenous nodules in systemic sclerosis. (22383359)
2012
7
Identification of activated cytokine pathways in the blood of systemic lupus erythematosus, myositis, rheumatoid arthritis, and scleroderma patients. (22324944)
2012
8
Agreement with guidelines from a large database for management of systemic sclerosis: results from the Canadian Scleroderma Research Group. (22247347)
2012
9
Pediatric scleroderma: systemic or localized forms. (22560576)
2012
10
Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway. (21803750)
2011
11
Normotensive scleroderma renal crisis in a patient with progressive systemic sclerosis: case report and review of literature. (21476377)
2011
12
Transforming growth factor-beta in systemic sclerosis (scleroderma). (19482698)
2009
13
Systemic sclerosis sine scleroderma associated with Wolff-Parkinson-White syndrome. (17454939)
2007
14
Esophageal damages in systemic scleroderma. (17582977)
2007
15
ANCA-related crescentic glomerulonephritis in systemic sclerosis: revisiting the "normotensive scleroderma renal crisis". (17915619)
2007
16
A survey of TCM studies on systemic scleroderma. (16817284)
2006
17
Infections in systemic connective tissue diseases: systemic lupus erythematosus, scleroderma, and polymyositis/dermatomyositis. (17118293)
2006
18
Unique characteristics of systemic sclerosis sine scleroderma-associated interstitial lung disease. (17035427)
2006
19
Calcinosis universalis in systemic sclerosis with limited scleroderma. (15789907)
2005
20
Bilateral acquired Brown syndrome in systemic scleroderma. (15838452)
2005
21
Localized and systemic scleroderma show different histological responses to methotrexate therapy. (11276011)
2001
22
Localized and systemic scleroderma. (11308134)
2001
23
Systemic sclerosis sine scleroderma: comment on the article by Poormoghim et al. (11083297)
2000
24
Microsatellites and intragenic polymorphisms of transforming growth factor beta and platelet-derived growth factor and their receptor genes in Native Americans with systemic sclerosis (scleroderma): a preliminary analysis showing no genetic association. (10817561)
2000
25
Localized subcutaneous Nocardia farcinica abscess in a woman with overlap syndrome between systemic scleroderma and polymyositis. (10637675)
1999
26
Fibroblast expression of collagen integrin receptors alpha1beta1 and alpha2beta1 is not changed in systemic scleroderma. (10468791)
1999
27
Immunological characterization of heterochromatin protein p25beta autoantibodies and relationship with centromere autoantibodies and pulmonary fibrosis in systemic scleroderma. (9462868)
1998
28
Systemic scleroderma. Multicenter trial of 1 year of treatment with recombinant interferon gamma. (9158414)
1997
29
Progressive systemic sclerosis sine scleroderma which developed after exposure to epoxy resin polymerization. (8675826)
1996
30
Systemic sclerosis sine scleroderma: an unusual presentation in scleroderma renal crisis. (7783082)
1995
31
Systemic administration of 2-chloro-2'-deoxyadenosine (2-CdA) in patients with systemic scleroderma. (7503631)
1994
32
HLA in systemic scleroderma (PSS) and familial scleroderma. (2050902)
1991
33
Signs of systemic disease in localized scleroderma. (1796827)
1991
34
Cytotoxic effects of sera from patients with systemic scleroderma: comparison of three different in vitro methods. (2349435)
1990
35
Oesophageal motility and lower oesophageal sphincter competence in progressive systemic sclerosis and localized scleroderma. (2928728)
1989
36
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. (2787182)
1989
37
Systemic scleroderma. Clinical and pathophysiologic aspects. (3280619)
1988
38
Scleromyxedema: a scleroderma-like disorder with systemic manifestations. (3336281)
1988
39
Systemic scleroderma: a clinical and immunological study. (3107926)
1986
40
Pulmonary function in progressive systemic sclerosis. Comparison of CREST syndrome variant with diffuse scleroderma. (6628005)
1983
41
On the capillaroscopic picture in systemic scleroderma. (6821057)
1982
42
Atrophoderma of Pasini and Pierini and systemic scleroderma. (7059194)
1982
43
Concurrent linear scleroderma and systemic lupus erythematosus: a report of two cases. (315439)
1979
44
Scleroderma-inducing glycosaminoglycan in the urine of patients with systemic scleroderma. (564296)
1978
45
An approach to experimental scleroderma, using urinary glycosaminoglycans from patients with systemic scleroderma. (48324)
1975
46
Systemic rheumatic disorders ("collagen disease") in childhood: lupus erythematosus, anaphylactoid purpura, dermatomyositis, and scleroderma. I. (6044284)
1967
47
Systemic scleroderma with complete heart block. Report of a case with comprehensive study of the conduction system. (5942938)
1966
48
The natural history of progressive systemic sclerosis (diffuse scleroderma). (13974644)
1963
49
Prognostic significance of Raynaud's phenomenon and other clinical characteristics of systemic scleroderma. A study of 271 cases. (13821594)
1960
50
Small intestinal lesions with steatorrhea in diffuse systemic sclerosis (scleroderma). (13405166)
1957

Genetic Variations for Systemic Scleroderma

Expression for genes affiliated with Systemic Scleroderma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Systemic Scleroderma

Sources:
45Novoseek
See all sources

Compounds related to Systemic Scleroderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose4510.3APOH, UBTF, SFTPD
2tuberculin4510.0ADA, MIF

GO Terms for genes affiliated with Systemic Scleroderma

Sources:
16Gene Ontology
See all sources

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:00636410.2FBLL1, EXOSC9, FBL
4tRNA processingGO:0080339.9FBLL1, RPP30, 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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Systemic Scleroderma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet