Systemic Scleroderma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SYS005 MIFTS: 73	Systemic Scleroderma Categories: Bone diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Systemic Scleroderma

MalaCards integrated aliases for Systemic Scleroderma:

Name: Systemic Scleroderma ¹¹ ¹⁹ ⁴² ¹⁴ ³⁶ ¹⁶ ⁷¹ ⁷⁵

Scleroderma ¹¹ ¹⁹ ⁵⁸ ⁷⁵ ⁵ ⁴¹ ¹⁴ ¹⁶ ⁷¹

Progressive Systemic Sclerosis ¹¹ ¹⁹ ⁷⁵ ³¹

Systemic Sclerosis ¹¹ ¹⁹ ⁴² ¹⁴

Scleroderma, Systemic ¹⁹ ⁴³

Scleroderma, Familial Progressive ⁷¹

Familial Progressive Scleroderma ⁴²

Progressive Scleroderma ⁴²

Scleroderma, Localized ⁴³

Scleroderma Syndrome ¹¹

Diffuse Scleroderma ⁷¹

Scleroderma Disease ⁵³

Dermatosclerosis ¹¹

Characteristics:

Prevelance:

Scleroderma: 1-9/100000 (Worldwide, Australia) 1-5/10000 (Worldwide, Australia) >1/1000 (Specific population) ⁵⁸

Age Of Onset:

Scleroderma: All ages ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases Immune diseases Nephrological diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the musculoskeletal system and connective tissue

Systemic connective tissue disorders

Systemic sclerosis

Progressive systemic sclerosis

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

Disease Ontology ¹¹ DOID:418 DOID:419

ICD9CM ³⁴ 710.1

MeSH ⁴³ D012594 D012595

NCIt ⁴⁹ C26746 C72070

SNOMED-CT ⁶⁸ 201440007 89155008

ICD10 ³¹ M34.0

UMLS via Orphanet ⁷² C0011644 C0852007

Orphanet ⁵⁸ ORPHA801

EFO ¹⁶ EFO_0000717 EFO_1001993

UMLS ⁷¹ C0011644 C0036421 C1258104 more

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Summaries for Systemic Scleroderma

MedlinePlus Genetics: ⁴² 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.The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud phenomenon, which can occur weeks to years before fibrosis. In Raynaud phenomenon, the fingers and toes of affected individuals turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. Another early sign of systemic scleroderma is puffy or swollen hands before thickening and hardening of the skin due to fibrosis. Skin thickening usually occurs first in the fingers (called sclerodactyly) and may also involve the hands and face. In addition, people with systemic scleroderma often have open sores (ulcers) on their fingers, painful bumps under the skin (calcinosis), or small clusters of enlarged blood vessels just under the skin (telangiectasia).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. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).There are three types of systemic scleroderma, defined by the tissues affected in the disorder. In one type of systemic scleroderma, known as limited cutaneous systemic scleroderma, fibrosis usually affects only the hands, arms, and face. Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of the condition: calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. In another type of systemic scleroderma, known as diffuse cutaneous systemic scleroderma, the fibrosis affects large areas of skin, including the torso and the upper arms and legs, and often involves internal organs. In diffuse cutaneous systemic scleroderma, the condition worsens quickly and organ damage occurs earlier than in other types of the condition. In the third type of systemic scleroderma, called systemic sclerosis sine scleroderma ("sine" means without in Latin), fibrosis affects one or more internal organs but not the skin.Approximately 15 percent to 25 percent of people with features of systemic scleroderma also have signs and symptoms of another condition that affects connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis, Sjögren syndrome, or systemic lupus erythematosus. The combination of systemic scleroderma with other connective tissue abnormalities is known as scleroderma overlap syndrome.

MalaCards based summary: Systemic Scleroderma, also known as scleroderma, is related to scleroderma, familial progressive and diffuse cutaneous systemic sclerosis, and has symptoms including pruritus, exanthema and hidebound skin. An important gene associated with Systemic Scleroderma is TSIX (TSIX Transcript, XIST Antisense RNA), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drugs Bosentan and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are arthralgia and myalgia

MedlinePlus: ⁴¹ 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

GARD: ¹⁹ 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 symptoms usually begin with episodes of Raynaud's phenomenon. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. The fibrosis can also affect internal organs, including the esophagus, heart, lungs, and kidneys.

Orphanet: ⁵⁸ Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).

Disease Ontology ¹¹ Systemic scleroderma: A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.

Scleroderma: A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.

Wikipedia ⁷⁵ Progressive systemic sclerosis: Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by... more...

Scleroderma: Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels,... more...

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Related Diseases for Systemic Scleroderma

Diseases in the Systemic Scleroderma family:

Scleroderma, Familial Progressive

Localized Scleroderma

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

(show top 50) (show all 1923)

#	Related Disease	Score	Top Affiliating Genes
1	scleroderma, familial progressive	33.3	TOP1 EDN1 CENPB CCN2
2	diffuse cutaneous systemic sclerosis	33.2	CCR6 CCN2
3	diffuse scleroderma	32.3	TSSK1B TRIM21 TOP1 SNRNP70 EXOSC10 EDN1
4	limited scleroderma	32.2	TSSK1B TRIM21 TOP1 TNF SNRNP70 IL6
5	raynaud disease	31.7	TRIM21 SNRNP70 EDN1 CENPB
6	nutritional deficiency disease	31.4	IL6 H2AC18 CCR6
7	myocarditis	31.4	TNF IL6 IL17A EDN1 CD4
8	sjogren syndrome	31.3	TRIM21 ICOSLG CENPB CCR6
9	gastrointestinal system disease	31.3	MIR21 MIR151A MIR142 ICOSLG H2AC18 CCR6
10	deficiency anemia	31.3	TNF IL6 ICOSLG H2AC18 CD4 CCR6
11	crest syndrome	31.3	TOP1 SNRNP70 H2AC18 EXOSC10 CENPB
12	common cold	31.2	TNF IL6 IL17A ICOSLG CD4 CCR6
13	purpura	31.2	TNF IL6 IL17A
14	lymphoma, hodgkin, classic	31.1	MIR21 ICOSLG H2AC18 CCR6
15	collagen disease	31.1	TRIM21 SNRNP70 IL6 H2AC18 EXOSC10 CCR6
16	localized scleroderma	31.0	TSSK1B TOP1 TNF SNRNP70 IL6 IL17A
17	dermatitis	31.0	TNF IL6 IL17A CCR6
18	mixed connective tissue disease	31.0	TNF SNRNP70 IL6
19	gastritis	31.0	TNF IL6 IL17A CCR6
20	idiopathic interstitial pneumonia	31.0	TRIM21 TNF IL6 EXOSC10 CD4
21	pulmonary hypertension	31.0	TNF MIR21 IL6 EDN1 CCN2
22	esophageal disease	31.0	MIR21 MIR151A MIR142 ICOSLG H2AC18 CCR6
23	spondylitis	31.0	TNF IL6 IL17A CCR6
24	goodpasture syndrome	30.9	H2AC18 CD4 CCR6
25	aplastic anemia	30.9	TNF IL6 H2AC18 CD4 CCR6
26	thrombocytopenia	30.9	TRIM21 TOP1 TNF MIR21 IL6 EDN1
27	juvenile rheumatoid arthritis	30.9	TNF IL6 ICOSLG CD4 CCR6
28	myositis	30.9	TRIM21 TNF IL6 IL17A ICOSLG
29	telangiectasis	30.9	TRIM21 TOP1 TNF SNRNP70 H2AC18 EXOSC10
30	aspiration pneumonia	30.9	TNF IL6 CD4
31	autoimmune disease	30.9	TRIM21 TNF IL6 IL17A ICOSLG CENPB
32	lipid metabolism disorder	30.9	TNF MIR21 IL6 H2AC18 EDN1 CCR6
33	esophageal candidiasis	30.9	IL17A CD4 CCR6
34	extrinsic allergic alveolitis	30.8	TNF CD4 CCR6
35	heart valve disease	30.8	MIR21 MIR142 IL6 H2AC18 EDN1
36	proliferative glomerulonephritis	30.8	ICOSLG H2AC18 CCR6
37	interstitial lung disease	30.8	TNF MIR21 MIR142 IL6 ICOSLG H2AC18
38	keratoconjunctivitis sicca	30.8	TRIM21 TNF ICOSLG CD4 CCR6
39	henoch-schoenlein purpura	30.8	TNF IL6 ICOSLG CD4 CCR6
40	myeloma, multiple	30.8	MIR21 MIR142 IL6 ICOSLG H2AC18 CCR6
41	thrombocytopenia due to platelet alloimmunization	30.8	ICOSLG CD4 CCR6
42	bronchiolitis obliterans	30.8	TNF IL6 IL17A EDN1
43	skin carcinoma	30.8	TNF MIR21 ICOSLG H2AC18 CD4 CCR6
44	inflammatory bowel disease 1	30.8	TNF IL6 IL17A H2AC18 CCR6
45	takayasu arteritis	30.8	TNF IL6 EDN1
46	human cytomegalovirus infection	30.7	TNF IL6 IL17A CD4 CCR6
47	severe covid-19	30.7	TNF MIR21 IL6 IL17A CD4 CCR6
48	lymphoma, mucosa-associated lymphoid type	30.7	MIR142 ICOSLG CD4 CCR6
49	lung disease	30.7	TNF MIR21 MIR142 IL6 H2AC18 EDN1
50	multiple sclerosis	30.7	TNF MIR21 MIR142 IL6 IL17A CD4

Comorbidity relations with Systemic Scleroderma via Phenotypic Disease Network (PDN): (show all 13)

Active Peptic Ulcer Disease	Acute Cystitis
Deficiency Anemia	Esophagitis
Heart Disease	Hypothyroidism
Localized Scleroderma	Peripheral Vascular Disease
Postinflammatory Pulmonary Fibrosis	Protein-Energy Malnutrition
Pulmonary Hypertension, Primary, 1	Raynaud Disease
Systemic Lupus Erythematosus

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

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Symptoms & Phenotypes for Systemic Scleroderma

Human phenotypes related to Systemic Scleroderma:

⁵⁸ ³⁰ (show top 50) (show all 78)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	arthralgia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002829
2	myalgia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003326
3	raynaud phenomenon ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0030880
4	cutaneous sclerotic plaque ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0031359
5	depression ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000716
6	myopathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003198
7	elevated circulating creatine kinase concentration ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003236
8	narrow mouth ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000160
9	sclerodactyly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011838
10	finger swelling ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0025131
11	anti-topoisomerase i antibody positivity ³⁰	Frequent (33%)		HP:0030859
12	seizure ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001250
13	arthritis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001369
14	flexion contracture ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001371
15	gastroesophageal reflux ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002020
16	cognitive impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100543
17	hypohidrosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000966
18	anxiety ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000739
19	alopecia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001596
20	dyspnea ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002094
21	uveitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000554
22	pericarditis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001701
23	myocarditis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012819
24	osteomyelitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002754
25	keratitis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000491
26	headache ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002315
27	pulmonary arterial hypertension ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002092
28	pruritus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000989
29	irregular hyperpigmentation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007400
30	syncope ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001279
31	intestinal bleeding ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002584
32	trigeminal neuralgia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100661
33	pulmonary fibrosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002206
34	episcleritis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100534
35	acute kidney injury ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001919
36	chronic kidney disease ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012622
37	abnormal large intestine morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002250
38	spotty hypopigmentation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0005590
39	barrett esophagus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100580
40	sensorimotor neuropathy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007141
41	abnormality of the small intestine ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002244
42	osteolytic defects of the phalanges of the hand ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0009771
43	right ventricular failure ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001708
44	hyperintensity of cerebral white matter on mri ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030890
45	calcinosis cutis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0025520
46	interstitial cardiac fibrosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0031329
47	gastrointestinal telangiectasia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002604
48	acral ulceration ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006121
49	abnormal phalangeal joint morphology of the hand ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006261
50	digital pitting scar ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0031293

UMLS symptoms related to Systemic Scleroderma:

pruritus; exanthema; hidebound skin

Sources

Drugs & Therapeutics for Systemic Scleroderma

Drugs for Systemic Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 290)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Bosentan

Approved, Investigational

Phase 4

147536-97-8

104865

Metronidazole

Approved

Phase 4

443-48-1, 69198-10-3

4173

Tadalafil

Approved, Investigational

Phase 4

171596-29-5

110635

Acetylsalicylic acid

Approved, Vet_approved

Phase 4

50-78-2

2244

Silver sulfadiazine

Approved, Vet_approved

Phase 4

22199-08-2

441244

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Phosphodiesterase Inhibitors

Phase 4

Phosphodiesterase 5 Inhibitors

Phase 4

Endothelin Receptor Antagonists

Phase 4

Anti-Inflammatory Agents, Non-Steroidal

Phase 4

Antiprotozoal Agents

Phase 4

Antiparasitic Agents

Phase 4

Fibrinolytic Agents

Phase 4

Antipyretics

Phase 4

Cyclooxygenase Inhibitors

Phase 4

Pirfenidone

Approved, Investigational

Phase 3

53179-13-8

40632

Acetylcysteine

Approved, Investigational

Phase 2, Phase 3

616-91-1

581 12035

Lidocaine

Approved, Vet_approved

Phase 2, Phase 3

137-58-6

3676

Domperidone

Approved, Investigational, Vet_approved

Phase 3

57808-66-9

3151

Iloprost

Approved, Investigational

Phase 3

78919-13-8

6443959 6435378 5311181

Nitroglycerin

Approved, Investigational

Phase 3

55-63-0

4510

Acetylcholine

Approved, Investigational

Phase 3

51-84-3

187

Dopamine

Approved

Phase 3

62-31-7, 51-61-6

681

Esomeprazole

Approved, Investigational, Vet_approved

Phase 3

73590-58-6, 119141-88-7

9568614 4594

Methocarbamol

Approved, Vet_approved

Phase 3

532-03-6

4107

Nitrous oxide

Approved, Vet_approved

Phase 3

10024-97-2

948

Prilocaine

Approved

Phase 3

721-50-6

4906

Lactulose

Approved

Phase 3

4618-18-2

11333

Clopidogrel

Approved

Phase 2, Phase 3

120202-66-6, 113665-84-2

60606

Brodalumab

Approved, Investigational

Phase 3

1174395-19-7

Nintedanib

Approved

Phase 3

656247-17-5

135423438 9809715

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Prednisolone phosphate

Approved, Vet_approved

Phase 2, Phase 3

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 2, Phase 3

52-21-1

Prednisolone

Approved, Vet_approved

Phase 2, Phase 3

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 2, Phase 3

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 2, Phase 3

83-43-2

4159 6741

Macitentan

Approved

Phase 3

441798-33-0

16004692

Lenograstim

Approved, Investigational

Phase 2, Phase 3

135968-09-1

Rituximab

Approved

Phase 2, Phase 3

174722-31-7

Coenzyme M

Approved, Investigational

Phase 2, Phase 3

3375-50-6

598 23662354

Fludarabine

Approved

Phase 2, Phase 3

75607-67-9, 21679-14-1

30751 657237

Ifosfamide

Approved

Phase 2, Phase 3

3778-73-2

3690

Bupivacaine

Approved, Investigational

Phase 2, Phase 3

2180-92-9, 38396-39-3

2474

Dronabinol

Approved, Illicit

Phase 3

1972-08-3

16078

Leuprolide

Approved, Investigational

Phase 3

53714-56-0

657181

Fasudil

Investigational

Phase 3

103745-39-7

3547

Prednisolone hemisuccinate

Experimental

Phase 2, Phase 3

2920-86-7

4897

Palifosfamide

Investigational

Phase 2, Phase 3

31645-39-3

100427

Ajulemic acid

Investigational

Phase 3

137945-48-3

11689875 3083542

Interventional clinical trials:

(show top 50) (show all 515)

#	Name	Status	NCT ID	Phase	Drugs
1	Safety and Efficacy of Vaccination Against Influenza in Patients With Scleroderma	Unknown status	NCT01002508	Phase 4
2	Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis	Unknown status	NCT03053739	Phase 4	Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
3	Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases	Unknown status	NCT01151644	Phase 4
4	Efectividad de Saccharomyces Oulardii Para Reducir Los síntomas Gastrointestinales y Evitar el Sobrecrecimiento Bacteriano en Esclerosis sistémica	Completed	NCT03692299	Phase 4	Saccharomyces Boulardii Oral Tablet;Metronidazole
5	Evaluation of Effectiveness of Acetylsalicylic Acid on Markers of Vascular Dysfunction in Patients With Systemic Sclerosis	Completed	NCT03558854	Phase 4	Acetylsalicylic acid;Placebo oral capsule
6	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis	Completed	NCT01042158	Phase 4	tadalafil and ambrisentan upfront combination therapy
7	The Clinical Efficacy And Subclinical Effects on Arterial STIFFNESS of Bosentan Therapy Added to Usual Care in Patients With Systemic Sclerosis With Digital Ulcers	Completed	NCT02480335	Phase 4	bosentan
8	Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study	Completed	NCT01051960	Phase 4	Ambrisentan
9	Effects of Bosentan in a Homogenous Population of Systemic Sclerosis Subjects With a Predefined Restriction of Blood Flow in the Hands	Completed	NCT01395732	Phase 4	Bosentan
10	Efficacy and Safety of Baricitinib in Systemic Sclerosis: a Phase IV, Double-blinded, Controlled Study.	Recruiting	NCT05300932	Phase 4	Baricitinib;Cyclophosphamide
11	A Phase IV, Single-arm, Open-label Clinical Trial to Evaluate the Efficacy and Safety of PLACENTEX ® Polydeoxyribonucleotide i.m. in Patients With Fibrotic and Atrophic Cutaneous Lesions in Scleroderma Diseases	Terminated	NCT03388255	Phase 4	Polydeoxyribonucleotides
12	Comparison of Solid-State Esophageal Manometry and Water Perfused Anorectal Manometry Catheters With Air Filled Multi-Balloon Esophageal and Anorectal Manometry Catheters	Terminated	NCT00204763	Phase 4
13	A Prospective Study of the Utility of Intraoperative, Quantitative Indocyanine Green Angiography in Microvascular Surgery for Systemic Scerlosis	Withdrawn	NCT03155464	Phase 4	Indocyanine Green
14	Probiotics in Patients With Moderate-to-severe Distention/ Bloating From Systemic Sclerosis	Withdrawn	NCT01497743	Phase 4	Lactobacillus
15	CompRehensive Phenotypic Characterization of Patients With Scleroderma-Associated Interstitial Lung DiseasE and Pulmonary Hypertension (PH): The CRuSADE PH Study	Unknown status	NCT03726398	Phase 2, Phase 3	Opsumit 10 Mg Tablet
16	Effects of Probiotics on Gastrointestinal Symptoms and on the Immune System in Patients With Systemic Sclerosis: a Randomized Double-blind Placebo-controlled Clinical Trial	Unknown status	NCT02302352	Phase 3
17	A Randomized, Double-blinded, Placebo Controlled Study to Evaluate Clinical Efficacy and Safety of Pirfenidone for Skin Fibrosis in Systemic Sclerosis	Unknown status	NCT03068234	Phase 2, Phase 3	Pirfenidone;Placebo oral capsule;Steroids
18	Rare Disease With Microvascular Involvement: High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis	Unknown status	NCT00428883	Phase 2, Phase 3	N-acetylcysteine (NAC)
19	A Phase III, Randomized, Double-blind, Placebo Controlled, Multicenter Clinical Trial to Evaluate the Efficacy and Safety of Pirfenidone in Subjects With Systemic Sclerosis-associated Interstitial Lung Disease (SSc-ILD)	Unknown status	NCT03856853	Phase 3	Pirfenidone
20	Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial	Unknown status	NCT00463125	Phase 2, Phase 3	Platelet Gel
21	A Study of a Topical Formulation of Nitroglycerin, MQX-503, and Matching Vehicle in the Treatment and Prevention of Raynaud's Phenomenon	Unknown status	NCT00577304	Phase 3	Nitroglycerin;Topical AmphiMatrix
22	Evaluation of Serial Night Time Position Splint on Range of Motion for Patients With Systemic Sclerosis	Unknown status	NCT01586663	Phase 3	Drug treatment
23	Effect of Sildenafil on the Microcirculatory Blood Flow and on the Endothelial Progenitor Cells in Patients With Systemic Sclerosis: a Randomized, Double-blind, Placebo-controlled Clinical Trial	Completed	NCT01347008	Phase 3	Sildenafil citrate;Placebo (Sugar pill)
24	Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial	Completed	NCT00740285	Phase 2, Phase 3	Lidocaine 2% without vessel constrictor
25	High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma)	Completed	NCT00501995	Phase 3	IV Cyclophosphamide
26	Cyclophosphamide Versus Placebo in Scleroderma Lung Study	Completed	NCT00004563	Phase 3	Cyclophosphamide;Placebo
27	Evaluation of the Efficacy and Safety of the Imiquimod 5% Topical Cream in Plaque Morphea: A Prospective, Multiple Baseline, Open Label Pilot Study	Completed	NCT00147771	Phase 3	Imiquimod 5% cream
28	A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma: A Double Blind, Parallel Group, Multicentric Study	Completed	NCT01117298	Phase 3	Tadalafil;Placebo
29	A Randomized, Double-Blinded, Placebo-Controlled Clinical Trial Assessing the Therapeutic Efficacy of Botulinum Toxin In Treating Scleroderma-Associated Raynaud's Syndrome	Completed	NCT02165111	Phase 3	Onabotulinumtoxin A;sterile saline solution
30	Evaluation of the Efficacy of Sildenafil on Time to Healing in Patients With Scleroderma and Ischaemic Digital Ulcers: a Prospective, Longitudinal, Randomized, Comparative, Double-blind, 2-parallel-arm, Placebo-controlled Study	Completed	NCT01295736	Phase 3	Sildenafil;placebo
31	A Randomized, Double Blind Controlled Trial Comparing Rituximab Against Intravenous Cyclophosphamide in Connective Tissue Disease Associated Interstitial Lung Disease	Completed	NCT01862926	Phase 2, Phase 3	Rituximab;Cyclophosphamide
32	The Effectiveness of Domperidone Versus Alginic Acid Add on Omeprazole Therapy in Omeprazole Resistance Gastroesophageal Reflux in Systemic Sclerosis	Completed	NCT01878526	Phase 3	Alginic acid;placebo (for domperidone);Domperidone;placebo (of alginic acid)
33	A Double Blind, Randomised, Placebo-controlled Trial Evaluating Efficacy and Safety of Oral Nintedanib Treatment for at Least 52 Weeks in Patients With Systemic Sclerosis Associated Interstitial Lung Disease (SSc-ILD)	Completed	NCT02597933	Phase 3	Nintedanib;Placebo
34	A Randomized, Double-Blind, Placebo-Controlled Trial of Recombinant Human Relaxin in the Treatment of Systemic Sclerosis With Diffuse Scleroderma	Completed	NCT00704665	Phase 3	Relaxin
35	Double-Blind, Parallel-group Comparison, Investigators Initiated Phase II Clinical Trial of IDEC-C2B8 (Rituximab) in Patients With Systemic Sclerosis	Completed	NCT04274257	Phase 2, Phase 3	Double-Blind Placebo;Double-Blind Rituximab
36	Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon	Completed	NCT00498615	Phase 3	Fasudil
37	Multicenter, Double-Blind, Randomized, Placebo-Controlled, Parallel Group, Study to Assess Efficacy of Botulinum Toxin A in Adult Subjects With Raynaud Phenomenon Secondary to Systemic Sclerosis	Completed	NCT03717961	Phase 3	BOTOX® solution;Placebo group
38	Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome	Completed	NCT00025818	Phase 3	Ophthalmic Emulsion
39	A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy and Safety of Tocilizumab Versus Placebo in Patients With Systemic Sclerosis	Completed	NCT02453256	Phase 3	Placebo;Tocilizumab
40	A Randomized, Open-Label, Phase II Multicenter Study of High-Dose Immunosuppressive Therapy Using Total Body Irradiation, Cyclophosphamide, ATGAM, and Autologous Transplantation With Auto-CD34+HPC Versus Intravenous Pulse Cyclophosphamide for the Treatment of Severe Systemic Sclerosis (SCSSc-01)	Completed	NCT00114530	Phase 2, Phase 3	cyclophosphamide
41	A Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Effect of Bosentan on Healing and Prevention of Ischemic Digital Ulcers in Patients With Systemic Sclerosis	Completed	NCT00077584	Phase 3	Bosentan 62.5 mg;Bosentan 125 mg;Placebo
42	A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Efficacy, Safety and Tolerability of Bosentan in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis	Completed	NCT00070590	Phase 2, Phase 3	Bosentan
43	A Multicenter, Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study Evaluating the Safety and Efficacy of Intravenous Iloprost in Subjects With Systemic Sclerosis Experiencing Symptomatic Digital Ischemic Episodes (AURORA Study)	Completed	NCT04040322	Phase 3	Placebo IV infusion;Iloprost Injection, for intravenous use
44	The Effect of Rosuvastatin on Vascular Dysfunction and Inflammatory Markers in Systemic Sclerosis-related Pulmonary Hypertension: Randomized, Double-Blind Placebo-Controlled Trial	Completed	NCT00984932	Phase 3	Rosuvastatin
45	Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma	Completed	NCT00626665	Phase 3	Tadalafil
46	A Randomized, Double-blind, Placebo-controlled Multi-center Study of GB-0998 for Treatment of Systemic Sclerosis	Completed	NCT00348296	Phase 3	High-dose intravenous immunoglobulin (Venoglobulin-IH)
47	Long-term Open-label Study in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis Who Completed the Protocol AC-052-330.	Completed	NCT00319033	Phase 2, Phase 3	bosentan
48	Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis	Completed	NCT00004786	Phase 3	iloprost
49	A Phase II/III, Multicenter, Randomized, Double-blind, Placebo-controlled Study To Assess The Efficacy And Safety Of Tocilizumab Versus Placebo In Patients With Systemic Sclerosis	Completed	NCT01532869	Phase 3	Placebo;tocilizumab [RoActemra/Actemra]
50	Evaluation of Rituximab in Systemic Sclerosis Associated Polyarthritis	Completed	NCT01748084	Phase 2, Phase 3	Rituximab;Placebo (NaCl)

Search NIH Clinical Center for Systemic Scleroderma

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Chloroquine

Chloroquine hydrochloride

chloroquine phosphate

Epoprostenol

Epoprostenol Sodium

Potassium aminobenzoate

Tolazoline

Tolazoline Hydrochloride

Cell-based therapeutics:

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

Cochrane evidence based reviews: scleroderma, localized

Sources

Genetic Tests for Systemic Scleroderma

Sources

Anatomical Context for Systemic Scleroderma

Organs/tissues related to Systemic Scleroderma:

MalaCards : Skin, Lung, Heart, Kidney, Endothelial, T Cells, Small Intestine

Sources

Publications for Systemic Scleroderma

Articles related to Systemic Scleroderma:

(show top 50) (show all 27882)

#	Title	Authors	PMID	Year
1	Thyroid Disorders in Patients with Systemic Sclerosis: Biochemical and Sonographic Characteristics. A Prospective Cohort Study. ⁶² ⁴¹	Meridor K...Levy Y	36436040	2022
2	Exploring the effects of a combined exercise programme on pain and fatigue outcomes in people with systemic sclerosis: study protocol for a large European multi-centre randomised controlled trial. ⁶² ⁴¹	Mitropoulos A...Klonizakis M	36443836	2022
3	Photoacoustic imaging is a novel tool to measure finger artery structure and oxygenation in patients with SSc. ⁶² ⁴¹	Wilkinson S...Murray AK	36443311	2022
4	Prostacyclin derivatives prevent the fibrotic response to TGF-beta by inhibiting the Ras/MEK/ERK pathway. ⁵³ ⁶²	Stratton R...Leask A	12368229	2002
5	DNA-specific antiidiotypic antibodies in the sera of patients with autoimmune diseases. ⁵³ ⁶²	Bronshtein IB...Gabibov AG	1468555	1992
6	Autoantibodies against nuclear, nucleolar, and mitochondrial antigens in systemic sclerosis (scleroderma). ⁵³ ⁶²	Reimer G	2406806	1990
7	Myocardial Involvement in Systemic Autoimmune Rheumatic Diseases. ⁶²	Zagouras AA...Tang WHW	36424026	2023
8	Total glucosides of paeony alleviates scleroderma by inhibiting type I interferon responses. ⁶²	Li S...Liu R	36334818	2023
9	Rheumatological manifestations of chronic graft versus host disease - Case series. ⁶²	Sabela J...Zielinska A	36371928	2023
10	Using the Bleomycin-Induced Model of Fibrosis to Study the Contribution of CCN Proteins to Scleroderma Fibrosis. ⁶²	Peidl A...Leask A	36370359	2023
11	Pulmonary Arterial Hypertension in Connective Tissue Diseases Beyond Systemic Sclerosis. ⁶²	Lewis C...Visovatti S	36435572	2023
12	Autoimmune conditions and pancreatic cancer risk in older American adults. ⁶²	Yuan F...Stolzenberg-Solomon RZ	36059225	2023
13	Asymmetric dimethylarginine correlates with worsening peripheral microangiopathy in systemic sclerosis. ⁶²	Pagkopoulou E...Dimitroulas T	36374797	2023
14	Association between oxygen delivery and digital ulcers in systemic sclerosis. ⁶²	Akdogan A...Ertenli AI	36374796	2023
15	Cardiovascular Manifestations of Systemic Sclerosis: An Overview of Pathophysiology, Screening Modalities, and Treatment Options. ⁶²	Lee KI...Wasserman A	34619709	2023
16	Study the Relationship of MDCT Staging in Disease Extent with the Systemic Sclerosis Disease Parameters. ⁶²	Ghandour AM...Abozaid HSM	36435556	2022
17	Appropriate immunoassay systems are needed to evaluate various anticentromere antibodies as biomarkers for disease progression in systemic sclerosis. ⁶²	Muro Y...Akiyama M	36473535	2022
18	Response to "Subclinical interstitial lung disease in patients with systemic sclerosis. A pilot study on the role of ultrasound". ⁶²	Vicente-Rabaneda EF...Castaneda S	34764057	2022
19	Urinary incontinence in systemic sclerosis: a prospective multicentre cohort study. ⁶²	John G...Chizzolini C	35945297	2022
20	Correspondence on 'Safety and tolerability of nintedanib in patients with systemic sclerosis-associated interstitial lung disease: data from the SENSCIS trial'. ⁶²	Bredemeier M	33023963	2022
21	Response to: 'Correspondence on 'Safety and tolerability of nintedanib in patients with systemic sclerosis-associated interstitial lung disease: data from the SENSCIS trial'' by Bredemeier. ⁶²	Seibold JR...Distler O	33023957	2022
22	Systemic Sclerosis Association with Malignancy. ⁶²	Lepri G...Guiducci S	36121543	2022
23	Direct and indirect health-related costs of systemic sclerosis in New Zealand. ⁶²	Padala SD...White D	36135601	2022
24	Absolute decrease in regulatory T cells and low-dose interleukin-2 therapy: restoring and expanding regulatory T cells to treat systemic sclerosis: a 24-week study. ⁶²	Yu Z...Wen H	36184784	2022
25	Ultra-high frequency ultrasound for digital arteries: improving the characterization of vasculopathy in systemic sclerosis. ⁶²	Di Battista M...Mosca M	36335687	2022
26	Beneficial effects of nintedanib on cardiomyopathy in patients with systemic sclerosis: a pilot study. ⁶²	Ninagawa K...Atsumi T	36458921	2022
27	Crystalline silica exposure in patients with rheumatoid arthritis and systemic sclerosis: a nationwide cross-sectional survey. ⁶²	Cavalin C...Rosental PA	36458909	2022
28	Association of HLA-DRB115:02:01, DQB105:01:24 and DPB1*13:01:01 in Thai patients with systemic sclerosis. ⁶²	Louthrenoo W...Takeuchi F	36054790	2022
29	Immune cell dysregulation as a mediator of fibrosis in systemic sclerosis. ⁶²	Fang D...Mu R	36352098	2022
30	TGFB1 mRNA expression and frequency of the + 869T>C and + 915G>C genetic variants: impact on risk for systemic sclerosis. ⁶²	Lomeli-Nieto JA...Hernandez-Bello J	36464760	2022
31	New-Onset Salt-and-Pepper Skin Changes Associated With Vaccination and Trauma in Systemic Sclerosis: Immunity Matters. ⁶²	Yin H...Lu L	36455934	2022
32	Extension-elicited blanching of the dorsal phalanges in systemic sclerosis: A case series. ⁶²	Schunkert EM...Merola JF	36411842	2022
33	Detection of Epstein-Barr virus in systemic sclerosis patients: A molecular and serological based study. ⁶²	Machhua S...Minz RW	36102054	2022
34	Autoantibodies and Cancer Association: the Case of Systemic Sclerosis and Dermatomyositis. ⁶²	Fiorentino DF...Casciola-Rosen L	35593962	2022
35	CD146 at the Interface between Oxidative Stress and the Wnt Signaling Pathway in Systemic Sclerosis. ⁶²	Heim X...Bardin N	35690141	2022
36	Continued treatment with nintedanib in patients with systemic sclerosis-associated interstitial lung disease: data from SENSCIS-ON. ⁶²	Allanore Y...SENSCIS-ON trial investigators	35973804	2022
37	Ribosomal S6 Protein Kinase 2 Aggravates the Process of Systemic Scleroderma. ⁶²	Jiang M...Cong W	35853487	2022
38	Systemic sclerosis and vaccinations: a three-year register-based cohort study about vaccination rate and uptake from Liguria referral center, northwest Italy. ⁶²	Murdaca G...Orsi A	35258440	2022
39	Potential of Photon-Counting Detector CT for Radiation Dose Reduction for the Assessment of Interstitial Lung Disease in Patients With Systemic Sclerosis. ⁶²	Jungblut L...Martini K	35640003	2022
40	Role of miR-155 in inflammatory autoimmune diseases: a comprehensive review. ⁶²	Xu WD...Huang AF	36308539	2022
41	Concomitant extrahepatic autoimmune diseases do not compromise the long-term outcomes of primary biliary cholangitis. ⁶²	Chen S...Jia JD	35668014	2022
42	Capillary pathology with prominent basement membrane reduplication is the hallmark histopathological feature of scleromyositis. ⁶²	Ellezam B...Landon-Cardinal O	35894636	2022
43	Thoracic Involvement in Systemic Autoimmune Rheumatic Diseases: Pathogenesis and Management. ⁶²	De Zorzi E...Zanatta E	35303257	2022
44	Long-term survival analysis of free flap reconstruction in patients with collagen vascular disorders. ⁶²	Yan M...Vijayasekaran A	36274012	2022
45	[Renal manifestations in connective tissue diseases]. ⁶²	Herrnstadt GR...Melderis S	36348023	2022
46	Comparison of current methods for anti-dsDNA antibody detection and reshaping diagnostic strategies. ⁶²	Infantino M...Bizzaro N	36373656	2022
47	High prevalence and risk factors for osteoporosis in 1839 patients with systemic sclerosis: a systematic review and meta-analysis. ⁶²	Tu X...Wang J	36474110	2022
48	Nailfold capillaroscopy: tips and challenges. ⁶²	El Miedany Y...Hassan M	36040673	2022
49	Cumulative Disease Damage and Anti-PM/Scl Antibodies Are Associated with a Heavy Burden of Calcinosis in Systemic Sclerosis. ⁶²	Richardson C...Shah AA	36469337	2022
50	Narrow-band reflectance spectrophotometry and infrared thermography for assessment of skin lesions in localized scleroderma. ⁶²	Szczepanek M...Lis-Swiety A	35925826	2022

Sources

Genes for Systemic Scleroderma

Genes related to Systemic Scleroderma (0 elite genes):

(show top 50) (show all 54)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TSIX	TSIX Transcript, XIST Antisense RNA	RNA Gene	158.5	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ ¹⁴	26566700
2	CCN2	Cellular Communication Network Factor 2	Protein Coding	23.87	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12368229
3	TOP1	DNA Topoisomerase I	Protein Coding	23.1	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	2406806 1468555
4	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	23.08	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
5	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	19.82	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
6	H2AC18	H2A Clustered Histone 18	Protein Coding	18.03	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
7	MIR21	MicroRNA 21	RNA Gene	17.44	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
8	MIR142	MicroRNA 142	RNA Gene	16.83	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
9	CXCL16	C-X-C Motif Chemokine Ligand 16	Protein Coding	16.45	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Summaries (show sections)
10	SNRNP70	Small Nuclear Ribonucleoprotein U1 Subunit 70	Protein Coding	15.84	DISEASES inferred ¹⁴ ¹⁴
11	EXOSC10	Exosome Component 10	Protein Coding	15.79	DISEASES inferred ¹⁴ ¹⁴
12	CENPB	Centromere Protein B	Protein Coding	15.43	DISEASES inferred ¹⁴ ¹⁴
13	TRIM21	Tripartite Motif Containing 21	Protein Coding	15.27	DISEASES inferred ¹⁴ ¹⁴
14	IL6	Interleukin 6	Protein Coding	15.18	DISEASES inferred ¹⁴ ¹⁴
15	CD4	CD4 Molecule	Protein Coding	14.94	DISEASES inferred ¹⁴ ¹⁴
16	EDN1	Endothelin 1	Protein Coding	14.8	DISEASES inferred ¹⁴ ¹⁴
17	TNF	Tumor Necrosis Factor	Protein Coding	14.77	DISEASES inferred ¹⁴ ¹⁴
18	MIR151A	MicroRNA 151a	RNA Gene	14.67	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
19	TSSK1B	Testis Specific Serine Kinase 1B	Protein Coding	14.64	DISEASES inferred ¹⁴ ¹⁴
20	IL17A	Interleukin 17A	Protein Coding	14.56	DISEASES inferred ¹⁴ ¹⁴
21	IL4	Interleukin 4	Protein Coding	14.39	DISEASES inferred ¹⁴ ¹⁴
22	MIR30A	MicroRNA 30a	RNA Gene	14.38	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
23	CRP	C-Reactive Protein	Protein Coding	14.15	DISEASES inferred ¹⁴ ¹⁴
24	IL13	Interleukin 13	Protein Coding	14.13	DISEASES inferred ¹⁴ ¹⁴
25	FN1	Fibronectin 1	Protein Coding	14.11	DISEASES inferred ¹⁴ ¹⁴
26	CD8A	CD8a Molecule	Protein Coding	14.09	DISEASES inferred ¹⁴ ¹⁴
27	IL10	Interleukin 10	Protein Coding	14.09	DISEASES inferred ¹⁴ ¹⁴
28	IL1B	Interleukin 1 Beta	Protein Coding	14.06	DISEASES inferred ¹⁴ ¹⁴
29	RO60	Ro60, Y RNA Binding Protein	Protein Coding	13.99	DISEASES inferred ¹⁴ ¹⁴
30	IRF5	Interferon Regulatory Factor 5	Protein Coding	13.94	DISEASES inferred ¹⁴ ¹⁴
31	FBL	Fibrillarin	Protein Coding	13.91	DISEASES inferred ¹⁴ ¹⁴
32	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	13.72	DISEASES inferred ¹⁴ ¹⁴
33	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	13.65	DISEASES inferred ¹⁴ ¹⁴
34	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	13.64	DISEASES inferred ¹⁴ ¹⁴
35	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	13.62	DISEASES inferred ¹⁴ ¹⁴
36	STAT4	Signal Transducer And Activator Of Transcription 4	Protein Coding	13.55	DISEASES inferred ¹⁴ ¹⁴
37	SMAD2	SMAD Family Member 2	Protein Coding	13.48	DISEASES inferred ¹⁴ ¹⁴
38	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	13.48	DISEASES inferred ¹⁴ ¹⁴
39	EDNRA	Endothelin Receptor Type A	Protein Coding	13.42	DISEASES inferred ¹⁴ ¹⁴
40	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	13.41	DISEASES inferred ¹⁴ ¹⁴
41	IFNA1	Interferon Alpha 1	Protein Coding	13.39	DISEASES inferred ¹⁴ ¹⁴
42	GIT2	GIT ArfGAP 2	Protein Coding	13.39	DISEASES inferred ¹⁴ ¹⁴
43	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	13.37	DISEASES inferred ¹⁴ ¹⁴
44	SMAD3	SMAD Family Member 3	Protein Coding	13.36	DISEASES inferred ¹⁴ ¹⁴
45	ACE	Angiotensin I Converting Enzyme	Protein Coding	13.32	DISEASES inferred ¹⁴ ¹⁴
46	IL2	Interleukin 2	Protein Coding	13.26	DISEASES inferred ¹⁴ ¹⁴
47	SSB	Small RNA Binding Exonuclease Protection Factor La	Protein Coding	13.24	DISEASES inferred ¹⁴ ¹⁴
48	PRTN3	Proteinase 3	Protein Coding	13.23	DISEASES inferred ¹⁴ ¹⁴
49	FOXP3	Forkhead Box P3	Protein Coding	13.16	DISEASES inferred ¹⁴ ¹⁴
50	IFIH1	Interferon Induced With Helicase C Domain 1	Protein Coding	13.16	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Systemic Scleroderma

ClinVar genetic disease variations for Systemic Scleroderma:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SLC39A13	NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)	SNV	Uncertain Significance	196579	rs140574574	GRCh37: 11:47433573-47433573 GRCh38: 11:47412022-47412022

Sources

Expression for Systemic Scleroderma

Genes differentially expressed in tissues of Systemic Scleroderma patients vs. healthy controls: ³⁵

#	Gene	Description	Tissue	Up/Dn	Fold Change (log2)	P value
1	TET2	tet methylcytosine dioxygenase 2	Blood	+	3.12	0.000

Search GEO for disease gene expression data for Systemic Scleroderma.

Sources

Pathways for Systemic Scleroderma

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

(show all 18)

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.25	TNF IL6 IL17A CXCL16 CD4 CCR6
2	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.09	CCN2 CCR6 CD4 CXCL16 IL17A IL6
3	Th17 Differentiation ⁶⁵ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.71	IL6 IL17A CD4
4	Acute viral myocarditis ⁷⁴	11.6	IL6 EDN1 CD4
5	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.58	TNF IL6 CD4
6	Extrafollicular B cell activation by SARS-CoV-2 ⁷⁴	11.55	TNF IL6 ICOSLG
7	Th17 cell differentiation pathway ⁷⁴	11.53	IL6 IL17A CD4
8	miRNAs involvement in the immune response in sepsis ⁷⁴	11.46	TNF MIR21 IL6
9	IL27-mediated signaling events ⁶¹ Show member pathways IL12 signaling pathway ⁶⁷ Th1 Differentiation ⁶⁵	11.46	TNF IL6 IL17A CD4
10	Innate Lymphoid Cells Differentiation ⁶⁵	11.16	TNF IL17A CD4 CCR6
11	Development and heterogeneity of the ILC family ⁷⁴	11.11	TNF IL6 IL17A
12	Cytokines and inflammatory response ⁷⁴	11.04	TNF IL6 CD4
13	amb2 Integrin signaling ⁶¹	11.01	TNF IL6 CCN2
14	Prostaglandin signaling ⁷⁴	10.94	TNF IL6 IL17A
15	G-protein signaling_Rap2B regulation pathway ²²	10.87	TNF IL6 IL17A CXCL16 CCN2
16	Immune infiltration in pancreatic cancer ⁷⁴	10.86	TNF IL6 IL17A
17	Lung fibrosis ⁷⁴	10.72	TNF IL6 EDN1 CCN2
18	Cells and molecules involved in local acute inflammatory response ⁷⁴ Show member pathways IL8-mediated signaling events ⁶¹	10.16	TNF IL6

Sources

GO Terms for Systemic Scleroderma

Biological processes related to Systemic Scleroderma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	response to activity	GO:0014823	9.93	TNF IL6 EDN1
2	positive regulation of DNA-binding transcription factor activity	GO:0051091	9.92	TRIM21 TNF IL6 EDN1
3	calcium-mediated signaling	GO:0019722	9.86	CCR6 CD4 EDN1 TNF
4	positive regulation of vascular associated smooth muscle cell proliferation	GO:1904707	9.8	TNF MIR21 EDN1
5	negative regulation of interleukin-1-mediated signaling pathway	GO:2000660	9.61	MIR21 IL6
6	positive regulation of leukocyte adhesion to vascular endothelial cell	GO:1904996	9.55	TNF MIR21 IL6
7	negative regulation of bicellular tight junction assembly	GO:1903347	9.54	TNF MIR142
8	positive regulation of neuroinflammatory response	GO:0150078	9.35	TNF MIR142 IL6
9	positive regulation of cytokine production involved in inflammatory response	GO:1900017	9.17	TNF MIR21 IL6 IL17A