MCID: NPH018
MIFTS: 51

Nephrogenic Systemic Fibrosis malady

Categories: Rare diseases, Skin diseases, Nephrological diseases

Aliases & Classifications for Nephrogenic Systemic Fibrosis

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Nephrogenic Systemic Fibrosis:

Name: Nephrogenic Systemic Fibrosis 45 51 65
Nephrogenic Fibrosing Dermopathy 45 51 65
 
Nfd 45
Nsf 45

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Orphanet51 137617
UMLS via Orphanet66 C1619692
UMLS65 C1619692, C3888044

Summaries for Nephrogenic Systemic Fibrosis

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NIH Rare Diseases:45 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 based summary: Nephrogenic Systemic Fibrosis, also known as nephrogenic fibrosing dermopathy, is related to liver disease and neuronal intranuclear inclusion disease, and has symptoms including uraemia odour, skin manifestations and pruritus. An important gene associated with Nephrogenic Systemic Fibrosis is ALB (Albumin), and among its related pathways are Cytokines and Inflammatory Response and EGFR Transactivation by Gastrin. Affiliated tissues include skin, kidney and liver, and related mouse phenotypes are tumorigenesis and renal/urinary system.

Wikipedia:68 Nephrogenic systemic fibrosis (NSF) or nephrogenic fibrosing dermopathy (NFD) is a rare and serious... more...

Related Diseases for Nephrogenic Systemic Fibrosis

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1liver disease29.9ALB, EDN1, TGFB1, TIMP1
2neuronal intranuclear inclusion disease11.3
3tetanus11.1
4n syndrome10.9
5foodborne botulism10.9
6episodic ataxia10.7ALB, TGFB1
7somatoform disorder10.6ALB, EPO
8congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency10.6EDNRA, TGFB1
9kosztolanyi syndrome10.6ALB, EDNRA
10angioid streaks10.5ALB, EPO
11diffuse meningeal melanocytosis10.5ALB, EPO
12blood group incompatibility10.5ALB, EPO
13retinitis pigmentosa 1710.4ALB, TGFB1
14discitis10.4ALB, EPO
15leukomelanoderma mental redardation hypotrichosis10.4EPO, SPP1
16elastoderma10.4EDN1, TGFB1
17tenosynovitis of foot and ankle10.4ALB, PIK3CA, TGFB1
18epidermolysis bullosa dystrophica10.4ALB, EPO, TGFB1
19cell type cancer10.4ALB, PIK3CA, TGFB1
20ossifying fibroma10.4ALB, EPO, TGFB1
21marasmus10.4EDN1, TGFB1
22thymus mucoepidermoid carcinoma10.3ALB, EPO, SPP1
23kidney disease10.3
24lethal congenital contractural syndrome 210.3EDN1, EPO
25malignant acrospiroma10.3ALB, EPO, TGFB1
26hyperekplexia 2, autosomal recessive10.3EDN1, EDNRA
27hereditary ataxia10.3ALB, PIK3CA, TGFB1
28multicentric reticulohistiocytosis10.2ALB, EDN1
29thrombocytopenia10.2EDN1, TIMP1
30whipple disease10.2DCN, TGFB1
31lymphedema10.2ALB, TGFB1, TIMP1
32cerebral lipidosis10.2ALB, EDN1, EPO
33brain ischemia10.2ALB, EDN1, EPO
34heart disease10.1ALB, EDN1, EPO
35liver lymphoma10.1ALB, EDN1, EDNRA
36thrombotic thrombocytopenic purpura10.1ALB, EDN1, EDNRA
37cystic echinococcosis10.0TGFB1, TIMP1
38gonadal dysgenesis10.0EDN1, TGFB1, TIMP1
39extrahepatic cholestasis10.0ALB, SPP1, TGFB1, TIMP1
40grn-related frontotemporal dementia10.0
41cerebellar angioblastoma10.0EDN1, EDNRA, SPP1
42pulmonary sarcoidosis10.0EDN1, TGFB1, TIMP1
43pulmonary hypertension10.0DCN, TGFB1
44sarcoma10.0
45gingivitis9.9DCN, TGFB1, TIMP1
46retinitis pigmentosa9.9
47retinitis9.9
48neuronal ceroid-lipofuscinoses9.9DCN, TIMP1
49kaposi sarcoma9.8
50atherosclerosis9.8

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



Diseases related to nephrogenic systemic fibrosis

Symptoms for Nephrogenic Systemic Fibrosis

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UMLS symptoms related to Nephrogenic Systemic Fibrosis:


uraemia odour, skin manifestations, pruritus, exanthema

Drugs & Therapeutics for Nephrogenic Systemic Fibrosis

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Ferrosoferric OxidePhase 462
2Pharmaceutical SolutionsPhase 47004
3Parenteral Nutrition SolutionsPhase 471
4HematinicsPhase 41121
5Liver ExtractsPhase 33572
6Imatinib MesylatePhase 3, Phase 2577123596
7Protein Kinase InhibitorsPhase 3, Phase 23162
8Plasma-lyte 148Phase 1, Phase 248
9
Iodine4947553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
10cadexomer iodine456

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1Primovist / Eovist in Renally Impaired PatientsCompletedNCT00908596Phase 4
2Risk of Nephrogenic Systemic Fibrosis (NSF) in Patients With Moderate Renal Insufficiency After the Administration of MagnevistCompletedNCT00744939Phase 4
3Safety of Gadovist in Renally Impaired PatientsCompletedNCT00828737Phase 4
4Post-marketing Safety Study in Patients With Moderate Renal Insufficiency Who Receive Omniscan for Contrast-enhanced Magnetic Resonance Imaging (MRI)CompletedNCT00908310Phase 4
5Feraheme As An MRI Contrast Agent For Pediatric Congenital Heart DiseaseRecruitingNCT02752191Phase 4
6Plasmapheresis for Nephrogenic Fibrosing Dermopathy (NFD)/Nephrogenic Systemic Fibrosis (NSF)TerminatedNCT01078987Phase 4
7Treatment of Patients With Nephrogenic Systemic Fibrosis With GlivecCompletedNCT00981942Phase 3
8Efficacy and Safety of Primovist in Chinese PatientsCompletedNCT00526188Phase 3
9Nephrogenic Systemic Fibrosis With GadollinumEnrolling by invitationNCT01359345Phase 2, Phase 3
10The Effect of Crystalloids and Colloids on Visceral Blood FlowCompletedNCT01087853Phase 1, Phase 2
11Pilot Study of Imatinib Mesylate to Treat Nephrogenic Systemic FibrosisActive, not recruitingNCT00677092Phase 2
12Nephrogenic Systemic Fibrosis (NSF): Analysis of Tissue Gadolinium LevelsCompletedNCT01014754
13Validation of a Questionnaire to Identify Signs and Symptoms of Nephrogenic Systemic FibrosisCompletedNCT00869479
14Prospective Evaluation of the Incidence of NSF in Patients With Kidney Disease Undergoing MRCompletedNCT01135316
15Evaluation of the Risk of Nephrogenic Systemic Fibrosis (NSF) in Patients With Chronic Kidney Disease Without Exposure to Gadolinium Based Contrast Agents (GBCA)CompletedNCT00773409
16Evaluation of the Risk of NSF Following ProHance Injection in Patients With Chronic Kidney DiseaseCompletedNCT00600834
17Evaluation of the Risk of NSF Following MultiHance Injection in Patients With Chronic Kidney DiseaseCompletedNCT00600951
18Magnevist Post-marketing Surveillance in JapanCompletedNCT01376739
19Observational Post-marketing Study on the Safety and Efficacy of Dotarem® (SECURE Study)CompletedNCT01523873
20Adverse Reactions to MR and CT-examinations (Enhanced and Unenhanced)CompletedNCT01132339
21Pilot Study of the Effect of Laser on Reversing Chronic Radiation InjuryRecruitingNCT01910818
22Observational Study on the Incidence of NSF in Renal Impaired Patients Following DOTAREM AdministrationActive, not recruitingNCT01467271
23Evaluation of Nephrogenic Systemic Fibrosis (NSF) in Patients With Chronic Kidney Disease Following OptiMARK InjectionSuspendedNCT00811863

Search NIH Clinical Center for Nephrogenic Systemic Fibrosis

Genetic Tests for Nephrogenic Systemic Fibrosis

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Anatomical Context for Nephrogenic Systemic Fibrosis

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MalaCards organs/tissues related to Nephrogenic Systemic Fibrosis:

33
Skin, Kidney, Liver, Eye, Testes, Heart, Breast

Animal Models for Nephrogenic Systemic Fibrosis or affiliated genes

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MGI Mouse Phenotypes related to Nephrogenic Systemic Fibrosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3ALB, DCN, PIK3CA, SPP1, TGFB1, TGM2
2MP:00053678.0ALB, DCN, EDN1, EDNRA, SPP1, TGFB1
3MP:00053697.8ALB, DCN, EDN1, EDNRA, PIK3CA, SPP1
4MP:00053797.7ALB, DCN, EDN1, EDNRA, PIK3CA, TGFB1
5MP:00053907.6DCN, EDN1, EDNRA, PIK3CA, SPP1, TGFB1
6MP:00053847.5ALB, DCN, EDNRA, EPO, MAPKAP1, PIK3CA
7MP:00053766.8ALB, DCN, EDN1, EDNRA, EPO, PIK3CA
8MP:00053856.4CXCL2, EDN1, EDNRA, EPO, MAPKAP1, PIK3CA
9MP:00107686.2ALB, DCN, EDN1, EDNRA, EPO, MAPKAP1

Publications for Nephrogenic Systemic Fibrosis

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Articles related to Nephrogenic Systemic Fibrosis:

(show top 50)    (show all 415)
idTitleAuthorsYear
1
Nephrogenic systemic fibrosis: a serious adverse reaction to gadolinium - 1997-2006-2016. Part 1. (26802069)
2016
2
Compensatory biliary and urinary excretion of gadobenate ion after administration of gadobenate dimeglumine (MultiHance(Ar)) in cases of impaired hepatic or renal function: a mechanism that may aid in the prevention of nephrogenic systemic fibrosis? (25651409)
2015
3
Nephrogenic Systemic Fibrosis Risk After Liver Magnetic Resonance Imaging With Gadoxetate Disodium in Patients With Moderate to Severe Renal Impairment: Results of a Prospective, Open-Label, Multicenter Study. (25756684)
2015
4
Nephrogenic systemic fibrosis is associated with hypophosphataemia: a case-control study. (24706993)
2014
5
Substitution of gadolinium ethylenediaminetetraacetate with phosphites: towards gadolinium deposit in nephrogenic systemic fibrosis. (24132302)
2013
6
Nephrogenic systemic fibrosis in denmark- a nationwide investigation. (24349178)
2013
7
Contrast-induced nephropathy and nephrogenic systemic fibrosis: minimizing the risk. (22316507)
2012
8
Understanding nephrogenic systemic fibrosis. (23193473)
2012
9
Quantification of gadolinium in fresh skin and serum samples from patients with nephrogenic systemic fibrosis. (21036418)
2011
10
Nephrogenic systemic fibrosis and gadolinium-containing radiological contrast agents: an update. (21471962)
2011
11
Quantitative assessment of dermal cellularity in nephrogenic systemic fibrosis: a diagnostic aid. (21414498)
2011
12
Nephrogenic systemic fibrosis: a brief review. (21572794)
2011
13
Nephrogenic systemic fibrosis: clinicopathological definition and workup recommendations. (21724294)
2011
14
Gadolinium deposition in nephrogenic systemic fibrosis: an examination of tissue using synchrotron x-ray fluorescence spectroscopy. (19896750)
2010
15
Gadolinium-associated nephrogenic systemic fibrosis in patients with renal failure: the need for an interdisciplinary helping network. (20032228)
2010
16
Nephrogenic systemic fibrosis: a review. (20677539)
2010
17
Nephrogenic systemic fibrosis with a spectrum of clinical and histopathological presentation: a disorder of aberrant dermal remodeling. (19341434)
2010
18
Nephrogenic systemic fibrosis in a patient with spinal cord injury: a unique case presentation. (21145526)
2010
19
NFI_B activation and stimulation of chemokine production in normal human macrophages by the gadolinium-based magnetic resonance contrast agent Omniscan: possible role in the pathogenesis of nephrogenic systemic fibrosis. (20959327)
2010
20
Estimates of risk, empirical treatment observations, and unexpected laboratory findings reveal the complexity of nephrogenic systemic fibrosis. (19841408)
2009
21
Nephrogenic systemic fibrosis in patients with chronic kidney disease who received gadopentetate dimeglumine. (19151610)
2009
22
Effects of gadolinium contrast agents in naA^ve and nephrectomized rats: relevance to nephrogenic systemic fibrosis. (19160079)
2009
23
Nephrogenic systemic fibrosis: clinical picture and treatment. (19744598)
2009
24
High-dose gadodiamide for catheter angiography and CT in patients with varying degrees of renal insufficiency: Prevalence of subsequent nephrogenic systemic fibrosis and decline in renal function. (19457816)
2009
25
Nephrogenic systemic fibrosis: incidence, associations, and effect of risk factor assessment--report of 33 cases. (19188312)
2009
26
Involvement of gadolinium chelates in the mechanism of nephrogenic systemic fibrosis: an update. (19744600)
2009
27
Nephrogenic systemic fibrosis and management of high-risk patients. (19375360)
2009
28
Nephrogenic systemic fibrosis in rats treated with erythropoietin and intravenous iron. (19789237)
2009
29
Nephrogenic systemic fibrosis: more questions and some answers. (18688172)
2008
30
Association of gadolinium based magnetic resonance imaging contrast agents and nephrogenic systemic fibrosis. (18635232)
2008
31
Nephrogenic systemic fibrosis: a new concern for rheumatologists. (18756271)
2008
32
An epidemic outbreak of nephrogenic systemic fibrosis in a Danish hospital. (18328659)
2008
33
Cardiac and vascular metal deposition with high mortality in nephrogenic systemic fibrosis. (18401336)
2008
34
Nephrogenic systemic fibrosis and gadolinium: a perfect storm. (18806157)
2008
35
Epoetin and nephrogenic systemic fibrosis. (18158932)
2008
36
Gadolinium-contrast toxicity in patients with kidney disease: nephrotoxicity and nephrogenic systemic fibrosis. (18690983)
2008
37
Nephrogenic systemic fibrosis: chronic imaging findings and review of the medical literature. (18324398)
2008
38
Nephrogenic systemic fibrosis associated with gadolinium use. (18400614)
2008
39
Treatment of nephrogenic systemic fibrosis with Re-PUVA. (18625379)
2008
40
Canadian Association of Radiologists national advisory on gadolinium administration and nephrogenic systemic fibrosis. (19385151)
2008
41
Nephrogenic systemic fibrosis: possible association with a predisposing infection. (18356457)
2008
42
Gadolinium-based contrast agents and their potential role in the pathogenesis of nephrogenic systemic fibrosis: the role of excess ligand. (18425843)
2008
43
A timely reminder about an evolving clinical entity: nephrogenic systemic fibrosis and gadolinium use in CKD. (17498132)
2007
44
Treatment with corticosteroids does not seem to benefit nephrogenic systemic fibrosis. (17602192)
2007
45
Safety update on the possible causal relationship between gadolinium-containing MRI agents and nephrogenic systemic fibrosis. (17457808)
2007
46
Long-term retention of gadolinium in tissues from nephrogenic systemic fibrosis patient after multiple gadolinium-enhanced MRI scans: case report and implications. (17712863)
2007
47
Nephrogenic systemic fibrosis associated with gadolinium-containing contrast media administration in patients with reduced glomerular filtration rate. (17504326)
2007
48
The role of the hospital dermatologist in the diagnosis and treatment of calciphylaxis and nephrogenic systemic fibrosis. (18070683)
2007
49
Nephrogenic systemic fibrosis--the beginning of the end? (17572281)
2007
50
Nephrogenic fibrosing dermopathy/nephrogenic systemic fibrosis with diaphragmatic involvement in a patient with respiratory failure. (16427988)
2006

Variations for Nephrogenic Systemic Fibrosis

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Expression for genes affiliated with Nephrogenic Systemic Fibrosis

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

Pathways for genes affiliated with Nephrogenic Systemic Fibrosis

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GO Terms for genes affiliated with Nephrogenic Systemic Fibrosis

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Biological processes related to Nephrogenic Systemic Fibrosis according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1histamine secretionGO:000182110.2EDN1, EDNRA
2cell activationGO:000177510.2TGFB1, TIMP1
3positive regulation of odontogenesisGO:004248210.1EDN1, EDNRA
4artery smooth muscle contractionGO:001482410.1EDN1, EDNRA
5neural crest cell developmentGO:001403210.1EDN1, EDNRA
6maternal process involved in parturitionGO:006013710.1EDN1, EDNRA
7vasoconstrictionGO:004231010.1EDN1, EDNRA
8phosphatidylinositol 3-kinase signalingGO:001406510.1EDN1, PIK3CA
9respiratory gaseous exchangeGO:000758510.1EDN1, EDNRA
10response to testosteroneGO:003357410.0EDN1, EPO
11regulation of blood pressureGO:000821710.0EDN1, EDNRA
12platelet activationGO:003016810.0ALB, PIK3CA, TGFB1
13positive regulation of neutrophil chemotaxisGO:00900239.9CXCL2, EDNRA
14response to vitamin DGO:00332809.9SPP1, TGFB1
15protein kinase C-activating G-protein coupled receptor signaling pathwayGO:00072059.8EDN1, EDNRA
16negative regulation of cAMP biosynthetic processGO:00308189.8EDN1, EDNRA
17response to organic substanceGO:00100339.7ALB, SPP1, TGFB1
18agingGO:00075689.5DCN, EDNRA, TGFB1
19extracellular matrix disassemblyGO:00226179.3DCN, SPP1, TIMP1
20response to lipopolysaccharideGO:00324968.2CXCL2, DCN, EDN1, EPO

Sources for Nephrogenic Systemic Fibrosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet