NFD
MCID: NPH018
MIFTS: 50

Nephrogenic Systemic Fibrosis (NFD) malady

Skin, Nephrological categories

Summaries for Nephrogenic Systemic Fibrosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 nephritis 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 bone marrow, spinal cord and heart, and related mouse phenotypes are vision/eye and endocrine/exocrine gland.

Wikipedia:64 Nephrogenic systemic fibrosis (NSF) or nephrogenic fibrosing dermopathy is a rare and serious syndrome... more...

Aliases & Classifications for Nephrogenic Systemic Fibrosis

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 58SNOMED-CT via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

nephrogenic systemic fibrosis 43 49
nephrogenic fibrosing dermopathy 43 49 61
nfd 43
nsf 43


External Ids:

SNOMED-CT via Orphanet58 424114000

Related Diseases for Nephrogenic Systemic Fibrosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Nephrogenic Systemic Fibrosis:



Diseases related to nephrogenic systemic fibrosis

Clinical Features for Nephrogenic Systemic Fibrosis

Drugs & Therapeutics for Nephrogenic Systemic Fibrosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Nephrogenic Systemic Fibrosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Nephrogenic Systemic Fibrosis:

33
Bone marrow, Spinal cord, Heart, Kidney, Liver, Breast, Skin, T cells, B cells, Endothelial

Animal Models for Nephrogenic Systemic Fibrosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Nephrogenic Systemic Fibrosis

Sources:
51PubMed
See all sources

Articles related to Nephrogenic Systemic Fibrosis:

(show top 50)    (show all 382)
idTitleAuthorsYear
1
Substitution of gadolinium ethylenediaminetetraacetate with phosphites: towards gadolinium deposit in nephrogenic systemic fibrosis. (24132302)
2013
2
The treatment of nephrogenic systemic fibrosis with therapeutic plasma exchange. (23426620)
2013
3
Gadolinium-induced nephrogenic systemic fibrosis: the rise and fall of an iatrogenic disease. (22833806)
2012
4
Editorial comment from Dr Mori to recent topics related to nephrogenic systemic fibrosis associated with gadolinium-based contrast agents. (22616755)
2012
5
Nephrogenic systemic fibrosis: clinicopathological definition and workup recommendations. (21724294)
2011
6
New insights into the mechanism of abnormal calcification in nephrogenic systemic fibrosis - gadolinium promotes calcium deposition of mesenchymal stem cells and dermal fibroblasts. (21334857)
2011
7
Nephrogenic systemic fibrosis, in patients with end-stage kidney disease on dialysis, in the greater Auckland region, from 2000-2006. (21272139)
2011
8
Risk of nephrogenic systemic fibrosis in liver transplantation patients. (21862808)
2011
9
Nephrogenic systemic fibrosis: a review. (20677539)
2010
10
Nephrogenic systemic fibrosis with a spectrum of clinical and histopathological presentation: a disorder of aberrant dermal remodeling. (19341434)
2010
11
Nephrogenic systemic fibrosis in a patient with spinal cord injury: a unique case presentation. (21145526)
2010
12
Balance of profibrotic and antifibrotic [corrected] signaling in nephrogenic systemic fibrosis skin lesions. (20430497)
2010
13
Acetazolamide therapy in meningeal involvement of nephrogenic systemic fibrosis. (21260956)
2010
14
Nephrogenic systemic fibrosis: a concise review for cardiologists. (20978560)
2010
15
Nephrogenic systemic fibrosis. A debilitating disease causing fibrosis of the skin and inner organs in patients with kidney failure. (20406611)
2010
16
Cardiac autotransplantation for aortic and mitral valve replacement in a patient with nephrogenic systemic fibrosis. (20118047)
2010
17
Synchrotron X-ray analyses demonstrate phosphate-bound gadolinium in skin in nephrogenic systemic fibrosis. (20560953)
2010
18
Low risk for nephrogenic systemic fibrosis in nondialysis patients who have chronic kidney disease and are investigated with gadolinium-enhanced magnetic resonance imaging. (20093350)
2010
19
Nephrogenic systemic fibrosis: clinical picture and treatment. (19744598)
2009
20
The evolution of osseous metaplasia in localized cutaneous nephrogenic systemic fibrosis: a case report. (19633532)
2009
21
Nephrogenic systemic fibrosis in a patient with a p-ANCA systemic vasculitis. (21794627)
2009
22
How to avoid nephrogenic systemic fibrosis: current guidelines in Europe and the United States. (19744601)
2009
23
Gadolinium-associated nephrogenic systemic fibrosis. (19817341)
2009
24
Nephrogenic fibrosing dermopathy/nephrogenic systemic fibrosis. (19171533)
2009
25
Decorin is significantly overexpressed in nephrogenic systemic fibrosis. (19864245)
2009
26
Gadolinium-based contrast agents and nephrogenic systemic fibrosis. (19244061)
2009
27
The involvement of pro-inflammatory cytokines in nephrogenic systemic fibrosis - a mechanistic hypothesis based on preclinical results from a rat model treated with gadodiamide. (19131226)
2009
28
Epoetin and nephrogenic systemic fibrosis. (18158932)
2008
29
Tissue distribution and kinetics of gadolinium and nephrogenic systemic fibrosis. (18374532)
2008
30
Nephrogenic systemic fibrosis: a report of 29 cases. (18287446)
2008
31
Nephrogenic systemic fibrosis: early recognition and treatment. (18226008)
2008
32
Response to editorial: animal models for nephrogenic systemic fibrosis. (18798020)
2008
33
Implications of NSF-active and NSF-inert in nephrogenic systemic fibrosis. (19020261)
2008
34
Nephrogenic systemic fibrosis: an epidemic of gadolinium toxicity. (18638427)
2008
35
Response to the FDA's May 23, 2007, nephrogenic systemic fibrosis update. (17855656)
2008
36
Treatment of nephrogenic systemic fibrosis: limited options but hope for the future. (18226000)
2008
37
Absence of human herpes virus-8 (HHV8) in nephrogenic systemic fibrosis. (18799006)
2008
38
A timely reminder about an evolving clinical entity: nephrogenic systemic fibrosis and gadolinium use in CKD. (17498132)
2007
39
Gadolinium-associated nephrogenic systemic fibrosis: double dose, not single dose. (17515358)
2007
40
The role of gadolinium in triggering nephrogenic systemic fibrosis/nephrogenic fibrosing dermopathy. (17922586)
2007
41
Nephrogenic systemic fibrosis: a case series suggesting gadolinium as a possible aetiological factor. (17627792)
2007
42
Nephrogenic systemic fibrosis following the administration of extracellular gadolinium based contrast agents: is the stability of the contrast agent molecule an important factor in the pathogenesis of this condition? (17392401)
2007
43
Nephrogenic systemic fibrosis is not exclusively associated with gadodiamide. (17458550)
2007
44
Evaluating the role of recombinant erythropoietin in nephrogenic systemic fibrosis. (17689832)
2007
45
Conventional or Gadolinium containing contrast media: the choice between acute renal failure or Nephrogenic Systemic Fibrosis? (17571229)
2007
46
Nephrogenic systemic fibrosis: risk factors and incidence estimation. (17267695)
2007
47
Nephrogenic systemic fibrosis following exposure to gadolinium-containing contrast agent. (17969494)
2007
48
Are patients with moderate renal failure at risk for developing nephrogenic systemic fibrosis? (17709844)
2007
49
Enhanced computed tomography or magnetic resonance imaging: a choice between contrast medium-induced nephropathy and nephrogenic systemic fibrosis? (17611863)
2007
50
Nephrogenic fibrosing dermopathy/nephrogenic systemic fibrosis: report of a new case with literature review. (16183432)
2005

Genetic Variations for Nephrogenic Systemic Fibrosis

Expression for genes affiliated with Nephrogenic Systemic Fibrosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 56SinoBiological, 12EMD Millipore, 4Cell Signaling Technology, 53R&D Systems, 52QIAGEN
See all sources

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
9.9TIMP1, F13A1
39.8SMAD2, SMAD3
4
Hide members
9.8SMAD2, SMAD3
59.8TGFB1, TGM2
69.6TIMP1, PIK3CA, EPO
79.5TGFB1, SMAD2, DCN
8
Hide members
9.5SMAD2, SMAD3, PIK3CA
9
Hide members
9.5SMAD2, SMAD3, PIK3CA
10
Hide members
9.5PIK3CA, SMAD3, SMAD2
119.5PIK3CA, SMAD3, SMAD2
12
Cell cycle Cell cycle (generic schema)
Hide members
9.4TGFB1, SMAD2, SMAD3
13
Cytokine production by Th17 cells in CF (Mouse model)
9.4TGFB1, SMAD2, SMAD3
149.4TGFB1, SMAD2, SMAD3
15
Development TGF-beta receptor signaling
Hide members
9.4TGFB1, SMAD2, SMAD3
16
Hide members
9.4SMAD3, SMAD2, TGFB1
17
Hide members
9.4SMAD3, SMAD2, TGFB1
18
Transcription Androgen Receptor nuclear signaling
Hide members
9.4PIK3CA, SMAD3, TGFB1
19
Hide members
9.4CTGF, SPP1, TGM2
20
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.3SMAD3, SPP1, CYP27B1
219.2TGFB1, SMAD2, DCN, PIK3CA
229.2TGFB1, SMAD2, SMAD3, CTGF
239.2CTGF, SMAD3, SMAD2, TGFB1
249.1DCN, SMAD3, SMAD2, TGFB1
25
Hide members
9.1TGFB1, SMAD2, SMAD3, PIK3CA
269.1TGFB1, SMAD2, SMAD3, PIK3CA
279.1PIK3CA, SMAD3, SMAD2, TGFB1
28
Hide members
9.0TIMP1, F13A1, DCN, SPP1
29
Hide members
8.9PIK3CA, SPP1, SMAD3, SMAD2
30
Hide members
8.8TGFB1, EPO, CTGF, CCL7, TIMP1
31
Hide members
8.6TIMP1, CCL7, CTGF, CXCL2, TGFB1
32
Hide members
8.6TIMP1, CCL7, CTGF, CXCL2, TGFB1
33
Hide members
8.0TIMP1, CCL7, CTGF, CXCL2, SPP1, TGFB1
34
Hide members
7.4CCL7, PIK3CA, MAPKAP1, CXCL2, SPP1, SMAD3

Compounds for genes affiliated with Nephrogenic Systemic Fibrosis

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Nephrogenic Systemic Fibrosis according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1vitamin d4510.3SMAD3, CYP27B1
2procollagen4510.2F13A1, TGFB1
3estrogen4510.0CXCL2, F13A1
4cyclosporin a45 29 6012.0PIK3CA, DCN, CTGF
5matrigel4510.0DCN, SMAD3, SMAD2
6pge24510.0CXCL2, TGFB1
7tranilast459.9SMAD2, TGFB1, TIMP1
8aristolochic acid45 210.9TGFB1, TIMP1, CTGF
9hydroxyproline45 11 2411.7TGFB1, DCN, TIMP1, CTGF
10bleomycin45 1110.5DCN, SMAD3, TIMP1, CTGF, SMAD2
11retinoid459.4CYP27B1, TGM2, CTGF, SPP1
12glucose459.4SMAD2, SMAD3, CYP27B1, PIK3CA, CTGF
13alginate459.3DCN, TIMP1, TGFB1, SPP1
14h2o2459.3SMAD2, CXCL2, PIK3CA, CTGF
15rapamycin459.1SMAD3, CTGF, TGM2, PIK3CA, EPO
161,25 dihydroxy vitamin d3459.1SPP1, SMAD3, TGFB1, CYP27B1
17lysine459.1SMAD3, TGM2, SMAD2, F13A1, DCN, CYP27B1
18n acetylcysteine459.1TIMP1, SMAD2, SMAD3, CXCL2, CTGF
19calcitriol45 60 11 2412.0TIMP1, SPP1, EPO, CYP27B1, TGFB1
20nifedipine45 50 29 1112.0TIMP1, CTGF, SPP1, TGFB1
21serine458.9PIK3CA, CTGF, SMAD2, TIMP1, TGFB1, CXCL2
22curcumin458.9TGFB1, CTGF, CCL7, TIMP1, SPP1
23thymidine45 249.9CTGF, PIK3CA, EPO, TGFB1, SMAD2, SMAD3
24cytochalasin d45 609.9TIMP1, CTGF, SPP1, TGFB1
25rantes458.9CCL7, TGFB1, CXCL2, MAPKAP1
26oxygen45 249.8DCN, EPO, CXCL2, CYP27B1, TGM2, CCL7
27hyaluronic acid45 249.8TGFB1, SPP1, CXCL2, DCN, TIMP1
28paraffin458.7F13A1, DCN, CYP27B1, SPP1, TGFB1, TIMP1
29fibrinogen458.7CTGF, TGM2, SPP1, CXCL2, F13A1
30heparin45 29 11 2411.7TIMP1, CTGF, DCN, PIK3CA, F13A1, SPP1
31genistein45 29 60 2 11 2413.7TIMP1, CCL7, PIK3CA, CYP27B1, DCN, SPP1
32ribonucleic acid458.6TGFB1, SPP1, CTGF, CCL7, TIMP1, DCN
33nitric oxide45 11 2410.6SMAD2, SMAD3, CXCL2, DCN, PIK3CA, CTGF
34cysteine458.6TGM2, DCN, TIMP1, CTGF, CYP27B1, SPP1
35cholesterol45 29 11 2411.5SPP1, CYP27B1, DCN, PIK3CA, TIMP1, SMAD3
36tgf beta1458.5SMAD2, SMAD3, SPP1, DCN, CTGF, TIMP1
37phosphatidylinositol458.4SMAD3, SPP1, EPO, PIK3CA, CTGF, TIMP1
38alanine458.4DCN, TIMP1, SPP1, SMAD3, TGM2, SMAD2
39tyrosine458.3SMAD2, CTGF, EPO, CYP27B1, CXCL2, PIK3CA
40threonine458.3SMAD2, TGM2, SMAD3, SPP1, TGFB1, PIK3CA
41retinoic acid45 249.3TIMP1, SPP1, CTGF, PIK3CA, DCN, CYP27B1
42lactate458.2TGFB1, PIK3CA, SPP1, CXCL2, EPO, CTGF
43sb 20358045 609.2CTGF, CXCL2, SMAD3, SMAD2, TGFB1, TIMP1
44actinomycin d458.1PIK3CA, SPP1, CCL7, TIMP1, TGFB1
45pd 98,059457.6SMAD2, SPP1, SMAD3, DCN, CXCL2, PIK3CA
46ly294002457.6EPO, SMAD3, PIK3CA, SPP1, CXCL2, CTGF
47dexamethasone45 50 29 1110.5TIMP1, CCL7, CTGF, PIK3CA, DCN, SPP1
48oligonucleotide457.2CYP27B1, DCN, TGFB1, SPP1, SMAD2, CXCL2
49vegf457.0TGFB1, SMAD2, SMAD3, EPO, SPP1, DCN
50calcium45 50 11 249.7RCN1, CTGF, PIK3CA, TGM2, CCL7, CYP27B1

GO Terms for genes affiliated with Nephrogenic Systemic Fibrosis

Sources:
16Gene Ontology
See all sources

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:03809210.2SMAD3, SMAD2
4common-partner SMAD protein phosphorylationGO:00718210.1SMAD2, TGFB1
5erythrocyte maturationGO:04324910.1EPO, TIMP1
6response to cholesterolGO:07072310.1TGFB1, SMAD2
7pericardium developmentGO:06003910.1SMAD3, SMAD2
8evasion or tolerance of host defenses by virusGO:01904910.1TGFB1, SMAD3
9activin receptor signaling pathwayGO:03292410.1SMAD3, SMAD2
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, SMAD2, SMAD3
15SMAD protein complex assemblyGO:0071839.8SMAD3, SMAD2, TGFB1
16regulation of transforming growth factor beta receptor signaling pathwayGO:0170159.8SMAD3, SMAD2, TGFB1
17positive regulation of epithelial to mesenchymal transitionGO:0107189.8SMAD3, SMAD2, TGFB1
18ureteric bud developmentGO:0016579.8SMAD3, SMAD2, TGFB1
19response to lipopolysaccharideGO:0324969.8DCN, EPO, CYP27B1
20platelet degranulationGO:0025769.8TGFB1, F13A1, TIMP1
21negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.7SMAD3, SMAD2, TGFB1
22decidualizationGO:0466979.6SPP1, CYP27B1
23agingGO:0075689.6TGFB1, EPO, DCN, TIMP1
24response to vitamin DGO:0332809.6TGFB1, SPP1, CYP27B1
25negative regulation of mitotic cell cycleGO:0459309.6TGFB1, SMAD3
26platelet activationGO:0301689.5TIMP1, PIK3CA, F13A1, TGFB1
27negative regulation of cell growthGO:0303089.5CYP27B1, SMAD3, TGFB1
28positive regulation of cell migrationGO:0303359.3TGFB1, SMAD3, CCL7
29extracellular matrix organizationGO:0301989.2TIMP1, DCN, SPP1, TGFB1
30transforming growth factor beta receptor signaling pathwayGO:0071799.1TGFB1, SMAD2, SMAD3
31inflammatory responseGO:0069548.7TGFB1, SPP1, CXCL2, CCL7

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

Sources for Nephrogenic Systemic Fibrosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet