PSS
MCID: SYS005
MIFTS: 66

Systemic Scleroderma (PSS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Immune diseases categories
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Summaries for Systemic Scleroderma

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 65Wikipedia, 47OMIM, 33MalaCards
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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

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

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.

NIH Rare Diseases:43 Scleroderma is a group of widespread connective tissue diseases that involve changes in the skin, blood vessels, muscles, and internal organs. there are two main types. localized scleroderma affects only the skin. systemic scleroderma affects the blood vessels and internal organs, as well as the skin. although the cause of scleroderma is unknown, it is believed to be related to an overproduction and accumulation of collagen which results when the immune system turns against the body (autoimmune reaction). there is no cure, but various treatments can relieve symptoms. last updated: 10/11/2010

Wikipedia:65 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

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8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 34MedlinePlus, 62UMLS, 21Genetics Home Reference, 10DISEASES, 31LifeMap Discovery™, 47OMIM, 45Novoseek, 58SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
scleroderma:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Elderly
systemic scleroderma:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

systemic scleroderma 8 43 21 10 49 31 62
systemic sclerosis 8 43 21 49 47
scleroderma 8 43 49 34 62
progressive systemic sclerosis 8 43
scleroderma, familial progressive 62
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
NCIt40 C72070
MeSH35 D012595
ICD9CM27 710.1
SNOMED-CT via Orphanet59 89155008
ICD10 via Orphanet26 M34.0, M34.1, M34.2 M34.8, M34.9, L94.0, P83.8, more
UMLS via Orphanet63 C0011644
OMIM47 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 424)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue disease30.7PLOD2, APOH, SFTPD
2systemic lupus erythematosus30.5IRF5, APOH
3pneumonia30.3HRH2, SFTPD
4vascular disease30.2APOH
5collagen disease29.9APOH, SFTPD
6thrombocytopenia29.9HRH2, APOH
7rheumatoid arthritis29.8HOXD13, SFTPD, APOH, IRF5
8scleroderma11.1
9localized scleroderma11.1
10linear scleroderma10.9
11interstitial lung disease10.5
12mixed connective tissue disease10.4
13lupus erythematosus10.4
14peeling skin syndrome10.4
15graft versus host disease10.3
16vasculitis10.3
17calcinosis10.3
18melorheostosis10.3
19glomerulonephritis10.3
20crescentic glomerulonephritis10.3
21potocki-shaffer syndrome10.2
22breast cancer10.2
23myositis10.2
24idiopathic pulmonary fibrosis10.2
25purpura10.2
26carcinoid syndrome10.2
27scleredema10.2
28scleromyxedema10.2
29keloids10.2
30diffuse scleroderma10.2
31megacolon10.2
32pulmonary systemic sclerosis10.2
33cerebritis10.2
34vitiligo10.2
35progeria10.2
36pneumatosis cystoides intestinalis10.2
37hepatitis10.2
38malignant hypertension10.2
39myopathy10.2
40skin disease10.2
41chronic graft versus host disease10.2
42idiopathic interstitial pneumonia10.1
43neuropathy10.1
44microscopic polyangiitis10.1
45bronchiolitis10.1
46bronchiolitis obliterans10.1
47primary biliary cirrhosis10.1
48panniculitis10.1
49cutaneous sclerosis10.1
50progressive hemifacial atrophy10.1

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



Diseases related to systemic scleroderma

Symptoms for Systemic Scleroderma

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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

181750

Symptoms:

49 (show all 89)
  • autoimmunity/autoimmune reaction/autoantibodies
  • periarticular tissue anomaly/extraarticular calcifications
  • arthritis/synovitis/synovial proliferation
  • articular/joint pain/arthralgia
  • myalgia/muscular pain
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • 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
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • cough
  • gingivorrhagia/gingival bleeding
  • 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
  • joint/articular deformation
  • telangiectasiae of the skin
  • 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
  • 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
  • chronic arterial hypertension
  • gangrena/necrosis
  • dyspareunia/coital pain/vaginal dryness
  • myositis
  • musculo-tendinous retractions
  • microstomia/little mouth
  • irregular/in bands/reticular skin hyperpigmentation
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • 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:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Systemic Scleroderma

Search NIH Clinical Center for Systemic Scleroderma

Inferred drug relations via UMLS62/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

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Anatomical Context for Systemic Scleroderma

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33MalaCards
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MalaCards organs/tissues related to Systemic Scleroderma:

33
Skin, Lung, Heart, Testes, Kidney, Bone, Tongue, T cells, Liver, Endothelial, Breast, Monocytes

Animal Models for Systemic Scleroderma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Systemic Scleroderma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.1HRH2, IRF5, APOH, SFTPD

Publications for Systemic Scleroderma

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Sources:
52PubMed
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Articles related to Systemic Scleroderma:

(show top 50)    (show all 203)
idTitleAuthorsYear
1
Systemic scleroderma associated with ulnar nerve entrapment at the elbow. (24343497)
2013
2
Functional impairment of systemic scleroderma patients with digital ulcerations: results from the DUO Registry. (23910613)
2013
3
MicroRNA array analysis of microRNAs related to systemic scleroderma. (21052672)
2012
4
The optimal management of patients with systemic scleroderma and coronary artery disease. (22774391)
2012
5
Antibodies to enzymes of purine metabolism as a factor of gastrointestinal tract lesions in systemic scleroderma]. (19551958)
2009
6
Management of cutaneous vascular complications in systemic scleroderma: experience from the German network. (18320192)
2008
7
Esophageal damages in systemic scleroderma. (17582977)
2007
8
Bilateral acquired Brown syndrome in systemic scleroderma. (15838452)
2005
9
'Grape-sultana' sign represents a favourable response to aggressive treatment of early diffuse systemic scleroderma. (15958118)
2005
10
Systemic scleroderma: a spatiotemporal clustering. (15836501)
2005
11
Effects of a nonsurgical exercise program on the decreased mouth opening in patients with systemic scleroderma. (14513305)
2003
12
Localized and systemic scleroderma show different histological responses to methotrexate therapy. (11276011)
2001
13
Pitting oedema in early diffuse systemic scleroderma. (11688491)
2001
14
Chronic constipation--a lethal danger in patients with systemic scleroderma. (11785605)
2001
15
Effects of acute pharmacological blockade of the renin-angiotensin system on intrarenal hemodynamics in patients with systemic lupus erythematosus and systemic scleroderma]. (11521515)
2001
16
Oral psoralen-UV-A for systemic scleroderma. (10328211)
1999
17
Increased cutaneous immunoreactive stem cell factor expression and serum stem cell factor level in systemic scleroderma. (10342750)
1998
18
Pancreatitis in systemic scleroderma. (9360294)
1997
19
Systemic scleroderma associated with Graves' disease. (9037923)
1996
20
Differential regulation of transcription and transcript stability of pro-alpha 1(I) collagen and fibronectin in activated fibroblasts derived from patients with systemic scleroderma. (8615828)
1996
21
Pigmentation abnormalities in systemic scleroderma examined by using a colorimeter (Choromo Meter CR-200). (8785175)
1996
22
Comparative assessment of the effects of vasodilators on peripheral vascular reactivity in patients with systemic scleroderma and Raynaud's phenomenon: color Doppler flow imaging study. (8644944)
1996
23
Systemic administration of 2-chloro-2'-deoxyadenosine (2-CdA) in patients with systemic scleroderma. (7503631)
1994
24
Decreased bradykinin binding sites in fibroblasts from progressive systemic scleroderma. (8002664)
1994
25
Circulating androgens in male patients suffering from systemic scleroderma. (1929551)
1991
26
Clinical aspects of localized and systemic scleroderma. (1772753)
1991
27
Type III collagen aminopropeptide and laminin P1 levels in serum of patients with silicosis-associated and idiopathic systemic scleroderma. (2117968)
1990
28
Anti-cardiolipin antibodies and other immunological disorders in patients with systemic scleroderma]. (2098888)
1990
29
Capillary microscopy during eosinophilic fasciitis in 15 patients: distinction from systemic scleroderma. (2346160)
1990
30
Progressive systemic scleroderma in an infant with partial phenylketonuria. (2516181)
1989
31
Paget's disease of the breast with underlying carcinoma arising in systemic scleroderma. (2836488)
1988
32
Significant increase of urinary low-sulfated heparan-sulfate-related protein in patients with severe systemic scleroderma. (3108042)
1987
33
Enhanced angiogenic capability of monocyte-enriched mononuclear cell suspensions from patients with systemic scleroderma. (2427611)
1986
34
A cytogenetic analysis of twenty cases of systemic scleroderma. (3495226)
1986
35
Type III collagen aminopropeptide levels in serum of patients with progressive systemic scleroderma. (3782862)
1986
36
Clinical significance of lymphocyte responsiveness to scleroderma-inducing glycosaminoglycan-associated antigen in systemic scleroderma. (4092798)
1985
37
Activation of fibroblasts induced by mononuclear cells from patients with systemic scleroderma and inactivation by mitogen stimulation. (6840370)
1983
38
Electron microscope study of connective tissue in systemic scleroderma using ruthenium red staining. (6183176)
1982
39
Lymphocyte responsiveness to urinary glycosaminoglycan in systemic scleroderma. (312217)
1979
40
Migraine and systemic scleroderma. (646367)
1978
41
Ultrastructure of the microvasculature in skin affected by systemic scleroderma. (15633966)
1976
42
Erosive arthropathy in systemic scleroderma. (1079058)
1975
43
Alteration of subcutaneous tissue in systemic scleroderma. (5009623)
1972
44
An objective evaluation of the treatment of systemic scleroderma with disodium EDTA, pyridoxine and reserpine. (4967134)
1968
45
Gastrointestinal involvement in systemic scleroderma. (5670091)
1968
46
SYSTEMIC SCLERODERMA, CALCINOSIS CUTIS AND PARATHYROID HYPERPLASIA. (14334660)
1965
47
DUODENAL AND GASTRIC ULCERS IN SYSTEMIC SCLERODERMA. (14277903)
1965
48
SYSTEMIC SCLERODERMA IN PREGNANCY. REPORT OF A CASE. (14211045)
1964
49
Diffuse systemic scleroderma. A comparison with acrosclerosis. (13923026)
1962
50
Prognostic significance of Raynaud's phenomenon and other clinical characteristics of systemic scleroderma. A study of 271 cases. (13821594)
1960

Variations for Systemic Scleroderma

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Expression for genes affiliated with Systemic Scleroderma

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2BioGPS, 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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Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Systemic Scleroderma according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1phosphorus459.7APOH, HRH2
2warfarin45 51 24 1112.7APOH, HRH2
3carbon dioxide45 2410.7SFTPD, PLOD2
4vitamin b12459.7HRH2, APOH
5carbon459.6SFTPD, HRH2
6prednisolone45 29 1111.5SFTPD, APOH
7agarose459.5SFTPD, APOH
8mannose459.4APOH, SFTPD
9ethanol45 51 24 1112.4HRH2, APOH
10phosphatidylcholine459.3SFTPD, APOH
11aspirin45 51 29 2412.3APOH, HRH2
12endotoxin459.2SFTPD, APOH, HRH2
13lactate459.2APOH, HRH2, SFTPD
14cholesterol45 29 24 1112.1SFTPD, APOH, HRH2
15nitric oxide45 24 1111.1HRH2, APOH, SFTPD
16oxygen45 249.7HRH2, PLOD2, SFTPD, APOH
17lipid458.6HRH2, SFTPD, APOH

GO Terms for genes affiliated with Systemic Scleroderma

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Products for genes affiliated with Systemic Scleroderma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Systemic Scleroderma

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet