MCID: SYS005
MIFTS: 58

Systemic Scleroderma malady

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

Summaries for Systemic Scleroderma

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NIH Rare Diseases:41 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 is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. 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 based summary: Systemic Scleroderma, also known as systemic sclerosis, is related to connective tissue disease and pneumonia, and has symptoms including chondrocalcinosis, hyperkeratosis and edema. An important gene associated with Systemic Scleroderma is HOXD13 (homeobox D13). The drugs chloroquine and epoprostenol 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:9 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.

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

Aliases & Classifications for Systemic Scleroderma

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Systemic Scleroderma, Aliases & Descriptions:

Name: Systemic Scleroderma 30 9 41 21 11 47 60
Systemic Sclerosis 9 41 21 47
Progressive Systemic Sclerosis 9 41
Scleroderma 9 60
Scleroderma, Familial Progressive 60
Familial Progressive Scleroderma 21
Progressive Scleroderma 21
 
Scleroderma, Systemic 41
Scleroderma Syndrome 9
Scleroderma Disease 43
Diffuse Scleroderma 60
Sclerosis Systemic 43
Pss 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
systemic scleroderma:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology9 DOID:418
NCIt38 C72070
ICD9CM27 710.1
MeSH33 D012595
Orphanet47 90291
ICD10 via Orphanet26 M34.0, M34.1, M34.2 M34.8, M34.9, more
ICD1025 M34, M34.0

Related Diseases for Systemic Scleroderma

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Diseases in the Scleroderma family:

systemic scleroderma Localized Scleroderma
Juvenile Scleroderma

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

(show top 50)    (show all 422)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue disease30.5SFTPD, APOH, PLOD2
2pneumonia30.4HRH2, SFTPD
3vascular disease30.4APOH
4systemic lupus erythematosus30.3IRF5, APOH
5collagen disease30.0SFTPD, APOH
6thrombocytopenia30.0APOH, HRH2
7rheumatoid arthritis29.2SFTPD, APOH, IRF5, HOXD13
8scleroderma11.1
9localized scleroderma11.1
10linear scleroderma10.9
11interstitial lung disease10.6
12pulmonary hypertension10.5
13mixed connective tissue disease10.5
14vasculitis10.4
15lupus erythematosus10.4
16melorheostosis10.3
17calcinosis10.3
18glomerulonephritis10.3
19pulmonary systemic sclerosis10.3
20crescentic glomerulonephritis10.3
21myositis10.3
22diffuse scleroderma10.3
23potocki-shaffer syndrome10.2
24peeling skin syndrome 210.2
25breast cancer10.2
26keloids10.2
27skin disease10.2
28myopathy10.2
29purpura10.2
30carcinoid syndrome10.2
31scleredema10.2
32scleromyxedema10.2
33megacolon10.2
34hepatitis10.2
35cerebritis10.2
36progeria10.2
37pneumatosis cystoides intestinalis10.2
38malignant hypertension10.2
39idiopathic interstitial pneumonia10.1
40neuropathy10.1
41microscopic polyangiitis10.1
42pulmonary function10.1
43stiff skin syndrome10.1
44bronchiolitis obliterans10.1
45primary biliary cirrhosis10.1
46bronchiolitis10.1
47panniculitis10.1
48chronic graft versus host disease10.1
49cutaneous sclerosis10.1
50toxic oil syndrome10.1

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



Diseases related to systemic scleroderma

Symptoms for Systemic Scleroderma

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Symptoms:

 47 (show all 59)
  • 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
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • myalgia/muscular pain
  • articular/joint pain/arthralgia
  • 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
  • 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
  • telangiectasiae of mucosae
  • 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
  • chronic arterial hypertension
  • gangrena/necrosis
  • dyspareunia/coital pain/vaginal dryness
  • myositis
  • musculo-tendinous retractions
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • microstomia/little mouth
  • irregular/in bands/reticular skin hyperpigmentation
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • encopresis/fecal incontinence
  • pulmonary hypertension
  • 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

HPO human phenotypes related to Systemic Scleroderma:

(show all 45)
id Description Frequency HPO Source Accession
1 chondrocalcinosis hallmark (90%) HP:0000934
2 hyperkeratosis hallmark (90%) HP:0000962
3 edema hallmark (90%) HP:0000969
4 atypical scarring of skin hallmark (90%) HP:0000987
5 acrocyanosis hallmark (90%) HP:0001063
6 arthritis hallmark (90%) HP:0001369
7 weight loss hallmark (90%) HP:0001824
8 nausea and vomiting hallmark (90%) HP:0002017
9 arthralgia hallmark (90%) HP:0002829
10 autoimmunity hallmark (90%) HP:0002960
11 amyotrophy hallmark (90%) HP:0003202
12 myalgia hallmark (90%) HP:0003326
13 abnormality of the gastric mucosa hallmark (90%) HP:0004295
14 lack of skin elasticity hallmark (90%) HP:0100679
15 chest pain hallmark (90%) HP:0100749
16 trismus typical (50%) HP:0000211
17 xerostomia typical (50%) HP:0000217
18 carious teeth typical (50%) HP:0000670
19 abnormality of the myocardium typical (50%) HP:0001637
20 abnormality of the pericardium typical (50%) HP:0001697
21 malabsorption typical (50%) HP:0002024
22 respiratory insufficiency typical (50%) HP:0002093
23 pulmonary infiltrates typical (50%) HP:0002113
24 pulmonary fibrosis typical (50%) HP:0002206
25 mucosal telangiectasiae typical (50%) HP:0100579
26 teleangiectasia of the skin typical (50%) HP:0100585
27 myositis typical (50%) HP:0100614
28 gangrene typical (50%) HP:0100758
29 skin ulcer typical (50%) HP:0200042
30 narrow mouth occasional (7.5%) HP:0000160
31 seizures occasional (7.5%) HP:0001250
32 coronary artery disease occasional (7.5%) HP:0001677
33 migraine occasional (7.5%) HP:0002076
34 pulmonary hypertension occasional (7.5%) HP:0002092
35 bowel incontinence occasional (7.5%) HP:0002607
36 osteomyelitis occasional (7.5%) HP:0002754
37 osteolysis occasional (7.5%) HP:0002797
38 irregular hyperpigmentation occasional (7.5%) HP:0007400
39 feeding difficulties in infancy occasional (7.5%) HP:0008872
40 peripheral neuropathy occasional (7.5%) HP:0009830
41 arrhythmia occasional (7.5%) HP:0011675
42 abnormal renal physiology occasional (7.5%) HP:0012211
43 abnormal tendon morphology occasional (7.5%) HP:0100261
44 erectile abnormalities occasional (7.5%) HP:0100639
45 hypertensive crisis occasional (7.5%) HP:0100735

Drugs & Therapeutics for Systemic Scleroderma

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Drug clinical trials:

Search ClinicalTrials for Systemic Scleroderma

Search NIH Clinical Center for Systemic Scleroderma

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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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MalaCards organs/tissues related to Systemic Scleroderma:

31
Skin, Lung, Heart, Kidney, Bone, Liver, T cells, Breast, Testes, Monocytes, Endothelial

Animal Models for Systemic Scleroderma or affiliated genes

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MGI Mouse Phenotypes related to Systemic Scleroderma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.1HRH2, IRF5, APOH, SFTPD

Publications for Systemic Scleroderma

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Articles related to Systemic Scleroderma:

(show top 50)    (show all 207)
idTitleAuthorsYear
1
Oesophageal stenosis dilatation through retrograde trans-gastrostomal approach in a patient with systemic scleroderma. (24956348)
2014
2
Fat embolism syndrome: an autopsy-proven case involving a patient on dialysis and systemic scleroderma. (24526839)
2014
3
Systemic scleroderma associated with ulnar nerve entrapment at the elbow. (24343497)
2013
4
Functional impairment of systemic scleroderma patients with digital ulcerations: results from the DUO Registry. (23910613)
2013
5
MicroRNA array analysis of microRNAs related to systemic scleroderma. (21052672)
2012
6
The optimal management of patients with systemic scleroderma and coronary artery disease. (22774391)
2012
7
Antibodies to enzymes of purine metabolism as a factor of gastrointestinal tract lesions in systemic scleroderma]. (19551958)
2009
8
Management of cutaneous vascular complications in systemic scleroderma: experience from the German network. (18320192)
2008
9
Esophageal damages in systemic scleroderma. (17582977)
2007
10
Bilateral acquired Brown syndrome in systemic scleroderma. (15838452)
2005
11
'Grape-sultana' sign represents a favourable response to aggressive treatment of early diffuse systemic scleroderma. (15958118)
2005
12
Systemic scleroderma: a spatiotemporal clustering. (15836501)
2005
13
Effects of a nonsurgical exercise program on the decreased mouth opening in patients with systemic scleroderma. (14513305)
2003
14
Localized and systemic scleroderma show different histological responses to methotrexate therapy. (11276011)
2001
15
Pitting oedema in early diffuse systemic scleroderma. (11688491)
2001
16
Chronic constipation--a lethal danger in patients with systemic scleroderma. (11785605)
2001
17
Effects of acute pharmacological blockade of the renin-angiotensin system on intrarenal hemodynamics in patients with systemic lupus erythematosus and systemic scleroderma]. (11521515)
2001
18
Oral psoralen-UV-A for systemic scleroderma. (10328211)
1999
19
Increased cutaneous immunoreactive stem cell factor expression and serum stem cell factor level in systemic scleroderma. (10342750)
1998
20
Pancreatitis in systemic scleroderma. (9360294)
1997
21
Systemic scleroderma associated with Graves' disease. (9037923)
1996
22
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
23
Pigmentation abnormalities in systemic scleroderma examined by using a colorimeter (Choromo Meter CR-200). (8785175)
1996
24
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
25
Systemic administration of 2-chloro-2'-deoxyadenosine (2-CdA) in patients with systemic scleroderma. (7503631)
1994
26
Decreased bradykinin binding sites in fibroblasts from progressive systemic scleroderma. (8002664)
1994
27
Circulating androgens in male patients suffering from systemic scleroderma. (1929551)
1991
28
Clinical aspects of localized and systemic scleroderma. (1772753)
1991
29
Type III collagen aminopropeptide and laminin P1 levels in serum of patients with silicosis-associated and idiopathic systemic scleroderma. (2117968)
1990
30
Anti-cardiolipin antibodies and other immunological disorders in patients with systemic scleroderma]. (2098888)
1990
31
Capillary microscopy during eosinophilic fasciitis in 15 patients: distinction from systemic scleroderma. (2346160)
1990
32
Progressive systemic scleroderma in an infant with partial phenylketonuria. (2516181)
1989
33
Paget's disease of the breast with underlying carcinoma arising in systemic scleroderma. (2836488)
1988
34
Significant increase of urinary low-sulfated heparan-sulfate-related protein in patients with severe systemic scleroderma. (3108042)
1987
35
Enhanced angiogenic capability of monocyte-enriched mononuclear cell suspensions from patients with systemic scleroderma. (2427611)
1986
36
A cytogenetic analysis of twenty cases of systemic scleroderma. (3495226)
1986
37
Type III collagen aminopropeptide levels in serum of patients with progressive systemic scleroderma. (3782862)
1986
38
Clinical significance of lymphocyte responsiveness to scleroderma-inducing glycosaminoglycan-associated antigen in systemic scleroderma. (4092798)
1985
39
Activation of fibroblasts induced by mononuclear cells from patients with systemic scleroderma and inactivation by mitogen stimulation. (6840370)
1983
40
Lymphocyte responsiveness to urinary glycosaminoglycan in systemic scleroderma. (312217)
1979
41
Migraine and systemic scleroderma. (646367)
1978
42
Ultrastructure of the microvasculature in skin affected by systemic scleroderma. (15633966)
1976
43
Erosive arthropathy in systemic scleroderma. (1079058)
1975
44
Alteration of subcutaneous tissue in systemic scleroderma. (5009623)
1972
45
An objective evaluation of the treatment of systemic scleroderma with disodium EDTA, pyridoxine and reserpine. (4967134)
1968
46
Gastrointestinal involvement in systemic scleroderma. (5670091)
1968
47
SYSTEMIC SCLERODERMA, CALCINOSIS CUTIS AND PARATHYROID HYPERPLASIA. (14334660)
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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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:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank, 28IUPHAR
See all sources

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1phosphorus439.7APOH, HRH2
2warfarin43 49 24 1212.7APOH, HRH2
3carbon dioxide43 2410.7SFTPD, PLOD2
4vitamin b12439.7HRH2, APOH
5carbon439.6SFTPD, HRH2
6prednisolone43 28 1211.5SFTPD, APOH
7agarose439.5SFTPD, APOH
8mannose439.4APOH, SFTPD
9ethanol43 49 24 1212.4HRH2, APOH
10phosphatidylcholine439.3SFTPD, APOH
11aspirin43 49 28 2412.3APOH, HRH2
12endotoxin439.2SFTPD, APOH, HRH2
13lactate439.2APOH, HRH2, SFTPD
14cholesterol43 28 24 1212.1SFTPD, APOH, HRH2
15nitric oxide43 24 1211.1HRH2, APOH, SFTPD
16oxygen43 249.7HRH2, PLOD2, SFTPD, APOH
17lipid438.6HRH2, 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
  • Proteins
  • Kits and Assays

Sources for Systemic Scleroderma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet