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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Sources:
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 pericardium anomalies/pericarditis/absence/cysts/pericardial effusion, pericardium anomalies/pericarditis/absence/cysts/pericardial effusion and respiratory rhythm disorder. 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, 48Orphanet, 33MedlinePlus, 60UMLS, 21Genetics Home Reference, 10DISEASES, 30LifeMap Discovery™, 46OMIM, 44Novoseek, 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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Sources:
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)
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • respiratory rhythm disorder
  • acute abdominal pain/colic
  • telangiectasiae of mucosae
  • irregular/patchy skin hypopigmentation
  • angor pectoris/myocardial infarction
  • recurrent urinary infections
  • myositis
  • periarticular tissue anomaly/extraarticular calcifications
  • urticaria
  • autoimmunity/autoimmune reaction/autoantibodies
  • structural anomalies of the digestive tract
  • stomach/gastric anomaly
  • thoracic/chest pain
  • cough
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • gangrena/necrosis
  • dyspareunia/coital pain/vaginal dryness
  • myalgia/muscular pain
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • gingivorrhagia/gingival bleeding
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • abnormal scarring/cheloids/hypertrophic scars
  • facial pain/cephalalgia/migraine
  • acute arterial hypertension/hypertensive crisis
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • limited opening of the mouth
  • troubles of memory/amnesia/hypermnesia
  • impotence/painful erection/priapism/erection troubles
  • microstomia/little mouth
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • anus/rectum anomalies
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • lung/pulmonary infiltrates
  • pulmonary hypertension
  • myocardium anomalies/myocarditis
  • hematuria/microhematuria
  • cirrhosis
  • joint/articular deformation
  • arthritis/synovitis/synovial proliferation
  • multiple caries
  • vascular anomalies of skin/mucosae
  • malabsorption/chronic diarrhea/steatorrhea
  • nerve conduction abnormality
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • renal disease/nephropathy
  • asthenia/fatigue/weakness
  • renal failure
  • cranial nerves palsy
  • articular/joint pain/arthralgia
  • psychic/behavioural troubles
  • anomalies of skin, subcutaneous tissue and mucosae
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • encopresis/fecal incontinence
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic arterial hypertension
  • muscle weakness/flaccidity
  • dermal/subcutaneous infiltration/induration
  • musculo-tendinous retractions
  • cutaneous edema
  • irregular/in bands/reticular skin hyperpigmentation
  • telangiectasiae of the skin
  • peripheral neuropathy
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • tight skin/lack of elasticity
  • heart/cardiac failure
  • oral mucosa disease/cheilitis
  • mouth dryness/xerostomia
  • anomalies of tongue, gingiva and oral mucosa
  • gingivitis
  • follicular/erythematous/edematous papules/milium
  • chronic skin infection/ulcerations/ulcers/cancrum
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • lung fibrosis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • cardiomyopathy/hypertrophic/dilated
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • dry/squaly skin/exfoliation
  • thick skin/pachydermia/orange skin

Drugs & Therapeutics for Systemic Scleroderma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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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, Small intestine, Breast, 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
Systemic scleroderma associated with ulnar nerve entrapment at the elbow. (24343497)
2013
2
Associations between a scleroderma-specific gastrointestinal instrument and objective tests of upper gastrointestinal involvements in systemic sclerosis. (23910611)
2013
3
Clinical correlations of hypocomplementaemia in systemic sclerosis: an analysis of the EULAR Scleroderma Trial and Research group (EUSTAR) database. (22309107)
2012
4
The use of adaptive oral hygiene devices and orofacial exercise by adults with systemic sclerosis (scleroderma) seems to improve their gingival health. (22726791)
2012
5
Scleroderma renal crisis in a Swedish systemic sclerosis cohort: survival, renal outcome, and RNA polymerase III antibodies as a risk factor. (22044051)
2012
6
Measures of systemic sclerosis (scleroderma): Health Assessment Questionnaire (HAQ) and Scleroderma HAQ (SHAQ), physician- and patient-rated global assessments, Symptom Burden Index (SBI), University of California, Los Angeles, Scleroderma Clinical Trials Consortium Gastrointestinal Scale (UCLA SCTC GIT) 2.0, Baseline Dyspnea Index (BDI) and Transition Dyspnea Index (TDI) (Mahler's Index), Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR), and Raynaud's Condition Score (RCS). (22588774)
2011
7
Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway. (21803750)
2011
8
Functional disturbance of the stress-adaptation system in patients with scleroderma. (21253801)
2011
9
Normotensive scleroderma renal crisis in a patient with progressive systemic sclerosis: case report and review of literature. (21476377)
2011
10
Prevalence and correlates of sleep disturbance in systemic sclerosis--results from the UCLA scleroderma quality of life study. (21324979)
2011
11
Reduction of regulatory T cells in skin lesions but not in peripheral blood of patients with systemic scleroderma. (21097800)
2011
12
Hearing loss in diffuse cutaneous systemic scleroderma. (21916804)
2011
13
Electrocardiographic evaluation in patients with systemic scleroderma and without clinically evident heart disease. (19614636)
2009
14
Pathogenesis and therapeutic approaches for improved topical treatment in localized scleroderma and systemic sclerosis. (19022832)
2009
15
Esophageal damages in systemic scleroderma. (17582977)
2007
16
Nifedipine effect on red cell rheological properties in patients with systemic scleroderma. (17325434)
2007
17
A survey of TCM studies on systemic scleroderma. (16817284)
2006
18
Systemic and localized scleroderma in children: current and future treatment options. (16608370)
2006
19
Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). (14730633)
2004
20
Surfactant protein D (SP-D) and systemic scleroderma (SSc). (11603386)
2001
21
Localized subcutaneous Nocardia farcinica abscess in a woman with overlap syndrome between systemic scleroderma and polymyositis. (10637675)
1999
22
Hemodynamics in nailfold capillaries of patients with systemic scleroderma: synchronous measurements of capillary blood pressure and red blood cell velocity. (9620310)
1998
23
Systemic scleroderma associated with Graves' disease. (9037923)
1996
24
Antibodies to collagen type I and fibronectin in patients with scleroderma systemic ]. (8992117)
1996
25
Systemic sclerosis sine scleroderma: an unusual presentation in scleroderma renal crisis. (7783082)
1995
26
Lichen planus presenting with erythema-multiforme-like bullous lesions in a patient with systemic scleroderma. (7727839)
1995
27
Histopathological and capillaroscopical features of the cuticles and bleeding clots in ring or middle fingers of systemic scleroderma patients. (7577836)
1995
28
Systemic administration of 2-chloro-2'-deoxyadenosine (2-CdA) in patients with systemic scleroderma. (7503631)
1994
29
Systemic lupus erythematosus and systemic scleroderma in patients from the aboriginal people and the newcomers of Yakutia under the extreme conditions of the far north. (7943620)
1994
30
Echographic diagnosis of cardiac involvement in systemic lupus erythematosus and systemic scleroderma. (1496265)
1992
31
Type III collagen aminopropeptide and laminin P1 levels in serum of patients with silicosis-associated and idiopathic systemic scleroderma. (2117968)
1990
32
Autoantibodies against nuclear, nucleolar, and mitochondrial antigens in systemic sclerosis (scleroderma). (2406806)
1990
33
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. (2787182)
1989
34
Enhanced angiogenic capability of monocyte-enriched mononuclear cell suspensions from patients with systemic scleroderma. (2427611)
1986
35
Pharmacodynamic effect of dipyridamole on thallium-201 myocardial perfusion in progressive systemic sclerosis with diffuse scleroderma. (3490227)
1986
36
Circulating immune complexes in systemic scleroderma. (6335127)
1984
37
Pulmonary function in progressive systemic sclerosis. Comparison of CREST syndrome variant with diffuse scleroderma. (6628005)
1983
38
Hepatocyte giant mitochondria: an almost constant lesion in systemic scleroderma. (142348)
1977
39
Skin capillary changes in early systemic scleroderma. Electron microscopy and "in vitro" autoradiography with tritiated thymidine. (984860)
1976
40
Immunoglobulins in systemic scleroderma. (4100587)
1971
41
Systemic scleroderma. (5424490)
1970
42
Infantile systemic scleroderma. (6054235)
1967
43
Systemic scleroderma. (5904840)
1966
44
Systemic scleroderma with complete heart block. Report of a case with comprehensive study of the conduction system. (5942938)
1966
45
The natural history of progressive systemic sclerosis (diffuse scleroderma). (13974644)
1963
46
Diffuse systemic scleroderma. A comparison with acrosclerosis. (13923026)
1962
47
Systemic scleroderma. (13657383)
1959
48
Systemic scleroderma with portal hypertension. (13489299)
1958
49
Observations on the use of prednisone in patients with progressive systemic sclerosis (diffuse scleroderma). (13275847)
1956
50
Linear scleroderma; association with abnormalities of the spine and nervous system. (18110528)
1948

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