NFD
MCID: NPH018
MIFTS: 44

Nephrogenic Systemic Fibrosis (NFD) malady

Skin diseases, Nephrological diseases categories

Summaries for Nephrogenic Systemic Fibrosis

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Nephrogenic systemic fibrosis is a condition that affects different parts of the body, particularly the skin. symptoms of the condition may include progressive swelling and tightening of the skin, sometimes resulting in contractures, and pruritis (itching).  the skin findings are similar to those seen in patients with scleroderma.  nephrogenic systemic fibrosis was first described in 1997. being exposed to gadolinium-containing contrast agents during mri testing has been identified as a significant risk factor for development of this disease. last updated: 4/24/2013

MalaCards: Nephrogenic Systemic Fibrosis, also known as nephrogenic fibrosing dermopathy, is related to sarcoma and systemic scleroderma. An important gene associated with Nephrogenic Systemic Fibrosis is CYP27B1 (cytochrome P450, family 27, subfamily B, polypeptide 1), and among its related pathways are TGF Beta Signaling Pathway and Platelet degranulation . The compounds vitamin d and procollagen have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are vision/eye and endocrine/exocrine gland.

Wikipedia:63 Nephrogenic systemic fibrosis (NSF) or nephrogenic fibrosing dermopathy is a rare and serious syndrome... more...

Aliases & Classifications for Nephrogenic Systemic Fibrosis

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42NIH Rare Diseases, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases, Nephrological diseases


Aliases & Descriptions:

nephrogenic systemic fibrosis 42 48
nephrogenic fibrosing dermopathy 42 48 60
nfd 42
nsf 42


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SNOMED-CT via Orphanet57 424114000

Related Diseases for Nephrogenic Systemic Fibrosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Nephrogenic Systemic Fibrosis:



Diseases related to nephrogenic systemic fibrosis

Clinical Features for Nephrogenic Systemic Fibrosis

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Drugs & Therapeutics for Nephrogenic Systemic Fibrosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Nephrogenic Systemic Fibrosis

Drug clinical trials:

Search ClinicalTrials for Nephrogenic Systemic Fibrosis

Search NIH Clinical Center for Nephrogenic Systemic Fibrosis

Search CenterWatch for Nephrogenic Systemic Fibrosis

Genetic Tests for Nephrogenic Systemic Fibrosis

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Anatomical Context for Nephrogenic Systemic Fibrosis

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32MalaCards
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MalaCards organs/tissues related to Nephrogenic Systemic Fibrosis:

32
Skin, Eye, Kidney, Testes

Animal Models for Nephrogenic Systemic Fibrosis or affiliated genes

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36MGI
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Publications for Nephrogenic Systemic Fibrosis

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Genetic Variations for Nephrogenic Systemic Fibrosis

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Expression for genes affiliated with Nephrogenic Systemic Fibrosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephrogenic Systemic Fibrosis

Search GEO for disease gene expression data for Nephrogenic Systemic Fibrosis.

Pathways for genes affiliated with Nephrogenic Systemic Fibrosis

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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 55SinoBiological, 12EMD Millipore, 52R&D Systems, 4Cell Signaling Technology, 51QIAGEN
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Pathways related to Nephrogenic Systemic Fibrosis according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2SMAD2
2
Hide members
9.9F13A1, TIMP1
39.8SMAD2, SMAD3
4
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9.8SMAD3, SMAD2
59.8TGFB1, TGM2
69.6EPO, PIK3CA, TIMP1
79.5TGFB1, SMAD2, DCN
89.5SMAD2, SMAD3, PIK3CA
9
Hide members
9.5SMAD2, SMAD3, PIK3CA
10
Hide members
9.5PIK3CA, SMAD3, SMAD2
11
Hide members
9.5PIK3CA, SMAD2, SMAD3
12
Development TGF-beta receptor signaling
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9.4TGFB1, SMAD2, SMAD3
13
Cell cycle Cell cycle (generic schema)
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9.4TGFB1, SMAD3, SMAD2
14
Hide members
9.4SMAD2, TGFB1, SMAD3
15
Cytokine production by Th17 cells in CF (Mouse model)
9.4TGFB1, SMAD3, SMAD2
16
Hide members
9.4TGFB1, SMAD2, SMAD3
179.4SMAD3, TGFB1, SMAD2
18
Transcription Androgen Receptor nuclear signaling
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9.4TGFB1, PIK3CA, SMAD3
19
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9.4CTGF, SPP1, TGM2
20
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.3CYP27B1, SPP1, SMAD3
219.2PIK3CA, DCN, SMAD2, TGFB1
229.2SMAD2, TGFB1, SMAD3, CTGF
239.2SMAD3, SMAD2, TGFB1, CTGF
249.1TGFB1, SMAD2, SMAD3, DCN
259.1TGFB1, SMAD2, SMAD3, PIK3CA
269.1SMAD3, PIK3CA, SMAD2, TGFB1
27
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9.1PIK3CA, SMAD3, TGFB1, SMAD2
28
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9.0F13A1, DCN, SPP1, TIMP1
29
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8.9PIK3CA, SPP1, SMAD3, SMAD2
30
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8.8CTGF, EPO, TIMP1, TGFB1, CCL7
31
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8.6CCL7, TGFB1, CXCL2, CTGF, TIMP1
32
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8.6TIMP1, CCL7, CTGF, CXCL2, TGFB1
33
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8.0CTGF, TIMP1, SPP1, TGFB1, CCL7, CXCL2
34
Hide members
7.4CCL7, SMAD2, SPP1, PIK3CA, MAPKAP1, CXCL2

Compounds for genes affiliated with Nephrogenic Systemic Fibrosis

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Nephrogenic Systemic Fibrosis according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1vitamin d4410.3SMAD3, CYP27B1
2procollagen4410.2F13A1, TGFB1
3estrogen4410.0CXCL2, F13A1
4cyclosporin a44 28 5912.0PIK3CA, DCN, CTGF
5matrigel4410.0DCN, SMAD3, SMAD2
6pge24410.0CXCL2, TGFB1
7tranilast449.9SMAD2, TGFB1, TIMP1
8aristolochic acid44 210.9TGFB1, TIMP1, CTGF
9hydroxyproline44 11 2411.7TGFB1, DCN, TIMP1, CTGF
10bleomycin44 1110.5DCN, SMAD3, TIMP1, CTGF, SMAD2
11retinoid449.4CYP27B1, TGM2, CTGF, SPP1
12glucose449.4SMAD2, SMAD3, CYP27B1, PIK3CA, CTGF
13alginate449.3DCN, TIMP1, TGFB1, SPP1
14h2o2449.3SMAD2, CXCL2, PIK3CA, CTGF
15rapamycin449.1SMAD3, CTGF, TGM2, PIK3CA, EPO
161,25 dihydroxy vitamin d3449.1SPP1, SMAD3, TGFB1, CYP27B1
17lysine449.1SMAD3, TGM2, SMAD2, F13A1, DCN, CYP27B1
18n acetylcysteine449.1TIMP1, SMAD2, SMAD3, CXCL2, CTGF
19calcitriol44 59 11 2412.0TIMP1, SPP1, EPO, CYP27B1, TGFB1
20nifedipine44 49 28 1112.0TIMP1, CTGF, SPP1, TGFB1
21serine448.9PIK3CA, CTGF, SMAD2, TIMP1, TGFB1, CXCL2
22curcumin448.9TGFB1, CTGF, CCL7, TIMP1, SPP1
23thymidine44 249.9CTGF, PIK3CA, EPO, TGFB1, SMAD2, SMAD3
24cytochalasin d44 599.9TIMP1, CTGF, SPP1, TGFB1
25rantes448.9CCL7, TGFB1, CXCL2, MAPKAP1
26oxygen44 249.8DCN, EPO, CXCL2, CYP27B1, TGM2, CCL7
27hyaluronic acid44 249.8TGFB1, SPP1, CXCL2, DCN, TIMP1
28paraffin448.7F13A1, DCN, CYP27B1, SPP1, TGFB1, TIMP1
29fibrinogen448.7CTGF, TGM2, SPP1, CXCL2, F13A1
30heparin44 28 11 2411.7TIMP1, CTGF, DCN, PIK3CA, F13A1, SPP1
31genistein44 28 59 2 11 2413.7TIMP1, CCL7, PIK3CA, CYP27B1, DCN, SPP1
32ribonucleic acid448.6TGFB1, SPP1, CTGF, CCL7, TIMP1, DCN
33nitric oxide44 11 2410.6SMAD2, SMAD3, CXCL2, DCN, PIK3CA, CTGF
34cysteine448.6TGM2, DCN, TIMP1, CTGF, CYP27B1, SPP1
35cholesterol44 28 11 2411.5SPP1, CYP27B1, DCN, PIK3CA, TIMP1, SMAD3
36tgf beta1448.5SMAD2, SMAD3, SPP1, DCN, CTGF, TIMP1
37phosphatidylinositol448.4SMAD3, SPP1, EPO, PIK3CA, CTGF, TIMP1
38alanine448.4DCN, TIMP1, SPP1, SMAD3, TGM2, SMAD2
39tyrosine448.3SMAD2, CTGF, EPO, CYP27B1, CXCL2, PIK3CA
40threonine448.3SMAD2, TGM2, SMAD3, SPP1, TGFB1, PIK3CA
41retinoic acid44 249.3TIMP1, SPP1, CTGF, PIK3CA, DCN, CYP27B1
42lactate448.2TGFB1, PIK3CA, SPP1, CXCL2, EPO, CTGF
43sb 20358044 599.2CTGF, CXCL2, SMAD3, SMAD2, TGFB1, TIMP1
44actinomycin d448.1PIK3CA, SPP1, CCL7, TIMP1, TGFB1
45pd 98,059447.6SMAD2, SPP1, SMAD3, DCN, CXCL2, PIK3CA
46ly294002447.6EPO, SMAD3, PIK3CA, SPP1, CXCL2, CTGF
47dexamethasone44 49 28 1110.5TIMP1, CCL7, CTGF, PIK3CA, DCN, SPP1
48oligonucleotide447.2CYP27B1, DCN, TGFB1, SPP1, SMAD2, CXCL2
49vegf447.0TGFB1, SMAD2, SMAD3, EPO, SPP1, DCN
50calcium44 49 11 249.7RCN1, CTGF, PIK3CA, TGM2, CCL7, CYP27B1

GO Terms for genes affiliated with Nephrogenic Systemic Fibrosis

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16Gene Ontology
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Cellular components related to Nephrogenic Systemic Fibrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SMAD protein complexGO:0711419.5SMAD2, SMAD3
2platelet alpha granule lumenGO:0310939.5TGFB1, F13A1, TIMP1
3extracellular spaceGO:0056157.5CCL7, CTGF, DCN, EPO, CXCL2, SPP1
4extracellular regionGO:0055767.1TGFB1, TIMP1, CCL7, CTGF, F13A1, DCN

Biological processes related to Nephrogenic Systemic Fibrosis according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1paraxial mesoderm morphogenesisGO:04834010.2SMAD2, SMAD3
2primary miRNA processingGO:03105310.2SMAD2, SMAD3
3nodal signaling pathwayGO:03809210.1SMAD3, SMAD2
4common-partner SMAD protein phosphorylationGO:00718210.1SMAD2, TGFB1
5erythrocyte maturationGO:04324910.1EPO, TIMP1
6response to cholesterolGO:07072310.1SMAD2, TGFB1
7pericardium developmentGO:06003910.1SMAD3, SMAD2
8evasion or tolerance of host defenses by virusGO:01904910.1TGFB1, SMAD3
9activin receptor signaling pathwayGO:03292410.1SMAD2, SMAD3
10regulation of striated muscle tissue developmentGO:01620210.0TGFB1, SMAD3
11embryonic foregut morphogenesisGO:04861710.0SMAD3, SMAD2
12lens fiber cell differentiationGO:0703069.9SMAD3, TGFB1
13response to glucose stimulusGO:0097499.9TGFB1, SMAD2, CTGF
14regulation of bindingGO:0510989.8TGFB1, SMAD3, SMAD2
15SMAD protein complex assemblyGO:0071839.8SMAD2, SMAD3, TGFB1
16regulation of transforming growth factor beta receptor signaling pathwayGO:0170159.8TGFB1, SMAD2, SMAD3
17positive regulation of epithelial to mesenchymal transitionGO:0107189.8SMAD2, TGFB1, SMAD3
18ureteric bud developmentGO:0016579.8SMAD2, SMAD3, TGFB1
19response to lipopolysaccharideGO:0324969.8EPO, CYP27B1, DCN
20platelet degranulationGO:0025769.8TIMP1, F13A1, TGFB1
21negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.7SMAD2, TGFB1, SMAD3
22decidualizationGO:0466979.6CYP27B1, SPP1
23agingGO:0075689.6TIMP1, EPO, TGFB1, DCN
24response to vitamin DGO:0332809.6CYP27B1, SPP1, TGFB1
25negative regulation of mitotic cell cycleGO:0459309.6SMAD3, TGFB1
26platelet activationGO:0301689.5TGFB1, TIMP1, PIK3CA, F13A1
27negative regulation of cell growthGO:0303089.5CYP27B1, SMAD3, TGFB1
28positive regulation of cell migrationGO:0303359.3TGFB1, CCL7, SMAD3
29extracellular matrix organizationGO:0301989.2SPP1, DCN, TIMP1, TGFB1
30transforming growth factor beta receptor signaling pathwayGO:0071799.1SMAD3, SMAD2, TGFB1
31inflammatory responseGO:0069548.7CCL7, TGFB1, CXCL2, SPP1

Molecular functions related to Nephrogenic Systemic Fibrosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein-glutamine gamma-glutamyltransferase activityGO:00381010.0TGM2, F13A1
2transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:03061810.0SMAD2, SMAD3
3co-SMAD bindingGO:0704109.9SMAD3, SMAD2
4transforming growth factor beta receptor bindingGO:0051609.8SMAD3, SMAD2
5R-SMAD bindingGO:0704129.8SMAD2, SMAD3
6protein kinase activator activityGO:0302959.8EPO, PIK3CA
7extracellular matrix bindingGO:0508409.3SPP1, DCN

Products for genes affiliated with Nephrogenic Systemic Fibrosis

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  • Antibodies
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Sources for Nephrogenic Systemic Fibrosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet