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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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

MalaCards based summary: Systemic Scleroderma, also known as systemic sclerosis, is related to connective tissue disease and vascular disease, and has symptoms including anomalies of skin, subcutaneous tissue and mucosae, hyperkeratosis/ainhum/hyperkeratotic skin fissures and abnormal scarring/cheloids/hypertrophic scars. 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:42 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:46 181750

Aliases & Classifications for Systemic Scleroderma

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Systemic Scleroderma, Aliases & Descriptions:

Name: Systemic Scleroderma 30 8 42 21 10 48 62
Systemic Sclerosis 8 42 21 48 46
Scleroderma 8 42 33 62
Progressive Systemic Sclerosis 8 42 62
Scleroderma Disease 44 62
Scleroderma, Familial Progressive 62
Familial Progressive Scleroderma 21
 
Scleroderma, Progressive 62
Progressive Scleroderma 21
Scleroderma, Systemic 42
Scleroderma Syndrome 8
Sclerosis Systemic 44
Pss 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
systemic scleroderma:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Adulthood; Age of death: Adult


External Ids:

Disease Ontology8 DOID:418
ICD9CM27 710.1
NCIt39 C72070
MeSH34 D012595
OMIM46 181750
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 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 430)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue disease30.4SFTPD, APOH, PLOD2
2vascular disease30.4APOH
3systemic lupus erythematosus30.3IRF5, APOH
4collagen disease30.1SFTPD, APOH
5pneumonia30.1HRH2, SFTPD
6thrombocytopenia30.0APOH, HRH2
7rheumatoid arthritis29.2SFTPD, APOH, IRF5, HOXD13
8scleroderma11.1
9linear scleroderma10.9
10pulmonary hypertension10.5
11mixed connective tissue disease10.4
12lupus erythematosus10.4
13localized scleroderma10.4
14vasculitis10.4
15graft versus host disease10.4
16melorheostosis10.3
17calcinosis10.3
18pneumatosis cystoides intestinalis10.3
19pulmonary systemic sclerosis10.3
20potocki-shaffer syndrome10.3
21peeling skin syndrome 110.3
22peeling skin syndrome 210.3
23crescentic glomerulonephritis10.3
24myositis10.2
25idiopathic pulmonary fibrosis10.2
26keloids10.2
27skin disease10.2
28progeria10.2
29myopathy10.2
30purpura10.2
31carcinoid syndrome10.2
32scleredema10.2
33scleromyxedema10.2
34diffuse scleroderma10.2
35megacolon10.2
36nephrotic syndrome10.2
37periarteritis nodosa10.2
38hepatitis10.2
39vitiligo10.2
40malignant hypertension10.2
41chronic graft versus host disease10.2
42idiopathic interstitial pneumonia10.1
43neuropathy10.1
44microscopic polyangiitis10.1
45bronchiolitis obliterans10.1
46primary biliary cirrhosis10.1
47progressive hemifacial atrophy10.1
48bronchiolitis10.1
49panniculitis10.1
50cutaneous sclerosis10.1

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



Diseases related to systemic scleroderma

Symptoms for Systemic Scleroderma

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Clinical features from OMIM:

181750

Symptoms:

48 (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 105)
id Description Frequency HPO Source Accession
1 xerostomia hallmark (90%) HP:0000217
2 gingivitis hallmark (90%) HP:0000230
3 dry skin hallmark (90%) HP:0000958
4 acrocyanosis hallmark (90%) HP:0001063
5 muscle weakness hallmark (90%) HP:0001324
6 arthritis hallmark (90%) HP:0001369
7 nausea and vomiting hallmark (90%) HP:0002017
8 restrictive lung disease hallmark (90%) HP:0002091
9 abnormality of the stomach hallmark (90%) HP:0002577
10 arthralgia hallmark (90%) HP:0002829
11 autoimmunity hallmark (90%) HP:0002960
12 myalgia hallmark (90%) HP:0003326
13 lack of skin elasticity hallmark (90%) HP:0100679
14 chest pain hallmark (90%) HP:0100749
15 gangrene hallmark (90%) HP:0100758
16 cheilitis hallmark (90%) HP:0100825
17 skin ulcer hallmark (90%) HP:0200042
18 chondrocalcinosis hallmark (90%) HP:0000934
19 hyperkeratosis hallmark (90%) HP:0000962
20 edema hallmark (90%) HP:0000969
21 atypical scarring of skin hallmark (90%) HP:0000987
22 acrocyanosis hallmark (90%) HP:0001063
23 arthritis hallmark (90%) HP:0001369
24 weight loss hallmark (90%) HP:0001824
25 nausea and vomiting hallmark (90%) HP:0002017
26 arthralgia hallmark (90%) HP:0002829
27 autoimmunity hallmark (90%) HP:0002960
28 amyotrophy hallmark (90%) HP:0003202
29 myalgia hallmark (90%) HP:0003326
30 abnormality of the gastric mucosa hallmark (90%) HP:0004295
31 lack of skin elasticity hallmark (90%) HP:0100679
32 chest pain hallmark (90%) HP:0100749
33 recurrent urinary tract infections typical (50%) HP:0000010
34 nephropathy typical (50%) HP:0000112
35 decreased nerve conduction velocity typical (50%) HP:0000762
36 chondrocalcinosis typical (50%) HP:0000934
37 hyperkeratosis typical (50%) HP:0000962
38 urticaria typical (50%) HP:0001025
39 hypopigmented skin patches typical (50%) HP:0001053
40 coronary artery disease typical (50%) HP:0001677
41 abnormality of the pericardium typical (50%) HP:0001697
42 weight loss typical (50%) HP:0001824
43 malabsorption typical (50%) HP:0002024
44 abdominal pain typical (50%) HP:0002027
45 pulmonary fibrosis typical (50%) HP:0002206
46 bowel incontinence typical (50%) HP:0002607
47 abnormal pattern of respiration typical (50%) HP:0002793
48 cranial nerve paralysis typical (50%) HP:0006824
49 feeding difficulties in infancy typical (50%) HP:0008872
50 arrhythmia typical (50%) HP:0011675
51 abnormal tendon morphology typical (50%) HP:0100261
52 mucosal telangiectasiae typical (50%) HP:0100579
53 teleangiectasia of the skin typical (50%) HP:0100585
54 myositis typical (50%) HP:0100614
55 trismus typical (50%) HP:0000211
56 xerostomia typical (50%) HP:0000217
57 carious teeth typical (50%) HP:0000670
58 abnormality of the myocardium typical (50%) HP:0001637
59 abnormality of the pericardium typical (50%) HP:0001697
60 malabsorption typical (50%) HP:0002024
61 respiratory insufficiency typical (50%) HP:0002093
62 pulmonary infiltrates typical (50%) HP:0002113
63 pulmonary fibrosis typical (50%) HP:0002206
64 mucosal telangiectasiae typical (50%) HP:0100579
65 teleangiectasia of the skin typical (50%) HP:0100585
66 myositis typical (50%) HP:0100614
67 gangrene typical (50%) HP:0100758
68 skin ulcer typical (50%) HP:0200042
69 renal insufficiency occasional (7.5%) HP:0000083
70 narrow mouth occasional (7.5%) HP:0000160
71 gingival bleeding occasional (7.5%) HP:0000225
72 behavioral abnormality occasional (7.5%) HP:0000708
73 hematuria occasional (7.5%) HP:0000790
74 seizures occasional (7.5%) HP:0001250
75 cirrhosis occasional (7.5%) HP:0001394
76 congestive heart failure occasional (7.5%) HP:0001635
77 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
78 pulmonary hypertension occasional (7.5%) HP:0002092
79 pulmonary infiltrates occasional (7.5%) HP:0002113
80 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
81 memory impairment occasional (7.5%) HP:0002354
82 tracheoesophageal fistula occasional (7.5%) HP:0002575
83 osteomyelitis occasional (7.5%) HP:0002754
84 osteolysis occasional (7.5%) HP:0002797
85 amyotrophy occasional (7.5%) HP:0003202
86 peripheral neuropathy occasional (7.5%) HP:0009830
87 arrhythmia occasional (7.5%) HP:0011675
88 neoplasm of the lung occasional (7.5%) HP:0100526
89 erectile abnormalities occasional (7.5%) HP:0100639
90 narrow mouth occasional (7.5%) HP:0000160
91 seizures occasional (7.5%) HP:0001250
92 coronary artery disease occasional (7.5%) HP:0001677
93 migraine occasional (7.5%) HP:0002076
94 pulmonary hypertension occasional (7.5%) HP:0002092
95 bowel incontinence occasional (7.5%) HP:0002607
96 osteomyelitis occasional (7.5%) HP:0002754
97 osteolysis occasional (7.5%) HP:0002797
98 irregular hyperpigmentation occasional (7.5%) HP:0007400
99 feeding difficulties in infancy occasional (7.5%) HP:0008872
100 peripheral neuropathy occasional (7.5%) HP:0009830
101 arrhythmia occasional (7.5%) HP:0011675
102 abnormal renal physiology occasional (7.5%) HP:0012211
103 abnormal tendon morphology occasional (7.5%) HP:0100261
104 erectile abnormalities occasional (7.5%) HP:0100639
105 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 UMLS62/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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MalaCards organs/tissues related to Systemic Scleroderma:

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

Animal Models for Systemic Scleroderma or affiliated genes

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MGI Mouse Phenotypes related to Systemic Scleroderma:

36
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 208)
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
Electron microscope study of connective tissue in systemic scleroderma using ruthenium red staining. (6183176)
1982
41
Lymphocyte responsiveness to urinary glycosaminoglycan in systemic scleroderma. (312217)
1979
42
Migraine and systemic scleroderma. (646367)
1978
43
Ultrastructure of the microvasculature in skin affected by systemic scleroderma. (15633966)
1976
44
Erosive arthropathy in systemic scleroderma. (1079058)
1975
45
Alteration of subcutaneous tissue in systemic scleroderma. (5009623)
1972
46
An objective evaluation of the treatment of systemic scleroderma with disodium EDTA, pyridoxine and reserpine. (4967134)
1968
47
Gastrointestinal involvement in systemic scleroderma. (5670091)
1968
48
SYSTEMIC SCLERODERMA, CALCINOSIS CUTIS AND PARATHYROID HYPERPLASIA. (14334660)
1965
49
SYSTEMIC SCLERODERMA IN PREGNANCY. REPORT OF A CASE. (14211045)
1964
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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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:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Systemic Scleroderma according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1phosphorus449.7APOH, HRH2
2warfarin44 50 24 1112.7APOH, HRH2
3carbon dioxide44 2410.7SFTPD, PLOD2
4vitamin b12449.7HRH2, APOH
5carbon449.6SFTPD, HRH2
6prednisolone44 28 1111.5SFTPD, APOH
7agarose449.5SFTPD, APOH
8mannose449.4APOH, SFTPD
9ethanol44 50 24 1112.4HRH2, APOH
10phosphatidylcholine449.3SFTPD, APOH
11aspirin44 50 28 2412.3APOH, HRH2
12endotoxin449.2SFTPD, APOH, HRH2
13lactate449.2APOH, HRH2, SFTPD
14cholesterol44 28 24 1112.1SFTPD, APOH, HRH2
15nitric oxide44 24 1111.1HRH2, APOH, SFTPD
16oxygen44 249.7HRH2, PLOD2, SFTPD, APOH
17lipid448.6HRH2, 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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet