MCID: NPH018
MIFTS: 55

Nephrogenic Systemic Fibrosis

Categories: Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nephrogenic Systemic Fibrosis

MalaCards integrated aliases for Nephrogenic Systemic Fibrosis:

Name: Nephrogenic Systemic Fibrosis 54 60 74
Nephrogenic Fibrosing Dermopathy 54 60 17 74
Nfd 54
Nsf 54

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

UMLS via Orphanet 75 C1619692 C3888044
Orphanet 60 ORPHA137617

Summaries for Nephrogenic Systemic Fibrosis

NIH Rare Diseases : 54 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.

MalaCards based summary : Nephrogenic Systemic Fibrosis, also known as nephrogenic fibrosing dermopathy, is related to chronic kidney failure and keloids, and has symptoms including pruritus and exanthema. An important gene associated with Nephrogenic Systemic Fibrosis is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Parenteral Nutrition Solutions and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and testes, and related phenotypes are cardiovascular system and cellular

Wikipedia : 77 Nephrogenic systemic fibrosis is a rare syndrome that involves fibrosis of skin, joints, eyes, and... more...

Related Diseases for Nephrogenic Systemic Fibrosis

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 chronic kidney failure 30.5 EDN1 EPO SPP1 TGFB1
2 keloids 30.0 SMAD2 SMAD3 SMAD7 TGFB1
3 kidney disease 29.9 CCN2 EDN1 EDNRA EPO SPP1 TGFB1
4 systemic scleroderma 29.7 CCN2 EDN1 TGFB1
5 tetanus 11.7
6 neuronal intranuclear inclusion disease 11.5
7 infant botulism 11.1
8 systemic lupus erythematosus 10.4
9 pseudoxanthoma elasticum 10.4
10 lupus erythematosus 10.4
11 liver disease 10.2
12 tubulointerstitial nephritis with uveitis 10.2
13 dermatomyositis 10.2
14 uveitis 10.2
15 cutis laxa 10.2
16 homologous wasting disease 10.2
17 obstructive nephropathy 10.2 SMAD2 SMAD3 TGFB1
18 localized scleroderma 10.2 DCN SMAD3 TGFB1
19 perinephritis 10.2 EDN1 EDNRA
20 calcific tendinitis 10.2 EDNRA SPP1 TGFB1
21 cervical intraepithelial neoplasia 10.2
22 sarcoma 10.2
23 hypochondrogenesis 10.2 SMAD2 SMAD3 SMAD7
24 clear cell adenocarcinoma 10.1 SMAD2 SMAD3 SMAD4
25 mandibulofacial dysostosis with alopecia 10.1 EDN1 EDNRA
26 biliary atresia 10.1 SPP1 TGFB1 TIMP1
27 hypertrophic scars 10.1 SMAD2 SMAD3 TGFB1 TIMP1
28 interstitial lung disease 10.1 EDN1 TGFB1 TIMP1
29 arts syndrome 10.1
30 transient cerebral ischemia 10.1
31 ischemia 10.1
32 breast cancer 10.1
33 kaposi sarcoma 10.1
34 end stage renal failure 10.1
35 inflammatory breast carcinoma 10.1
36 scleredema 10.1
37 scleromyxedema 10.1
38 pauci-immune glomerulonephritis 10.0 CCN2 SMAD2
39 achondroplasia 9.9
40 pulmonary hypertension, primary, 1 9.9
41 bloom syndrome 9.9
42 retinitis pigmentosa 9.9
43 retinitis pigmentosa 2 9.9
44 leber congenital amaurosis 4 9.9
45 late-onset retinal degeneration 9.9
46 spastic paraplegia, ataxia, and mental retardation 9.9
47 blood group, junior system 9.9
48 legionnaires' disease 9.9
49 retinitis 9.9
50 cocaine dependence 9.9

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



Diseases related to Nephrogenic Systemic Fibrosis

Symptoms & Phenotypes for Nephrogenic Systemic Fibrosis

UMLS symptoms related to Nephrogenic Systemic Fibrosis:


pruritus, exanthema

MGI Mouse Phenotypes related to Nephrogenic Systemic Fibrosis:

47 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.5 CCN2 CXCL2 EDN1 EDNRA EPO F13A1
2 cellular MP:0005384 10.4 CCN2 DCN EDNRA EPO MAPKAP1 PIK3CA
3 homeostasis/metabolism MP:0005376 10.4 CCN2 DCN EDN1 EDNRA EPO F13A1
4 growth/size/body region MP:0005378 10.39 CCN2 DCN EDN1 EDNRA MAPKAP1 PIK3CA
5 endocrine/exocrine gland MP:0005379 10.37 CCN2 DCN EDN1 EDNRA F13A1 PIK3CA
6 mortality/aging MP:0010768 10.36 CCN2 DCN EDN1 EDNRA EPO F13A1
7 embryo MP:0005380 10.31 CCN2 EDN1 EDNRA EPO MAPKAP1 PIK3CA
8 hematopoietic system MP:0005397 10.31 DCN EDNRA EPO F13A1 SMAD2 SMAD3
9 behavior/neurological MP:0005386 10.3 DCN EDNRA PIK3CA SMAD2 SMAD3 SMAD4
10 immune system MP:0005387 10.29 DCN EDNRA EPO PIK3CA SMAD2 SMAD3
11 craniofacial MP:0005382 10.28 CCN2 DCN EDN1 EDNRA SMAD2 SMAD3
12 integument MP:0010771 10.24 CCN2 DCN EDNRA EPO PIK3CA SMAD2
13 digestive/alimentary MP:0005381 10.23 CCN2 DCN EDN1 EDNRA SMAD2 SMAD3
14 muscle MP:0005369 10.09 DCN EDN1 EDNRA EPO PIK3CA SMAD4
15 neoplasm MP:0002006 10.06 DCN PIK3CA SMAD2 SMAD3 SMAD4 SPP1
16 liver/biliary system MP:0005370 10.02 CCN2 EPO SMAD2 SMAD3 SMAD4 SPP1
17 normal MP:0002873 9.97 CCN2 DCN EDN1 EDNRA EPO SMAD2
18 reproductive system MP:0005389 9.96 DCN F13A1 PIK3CA SMAD2 SMAD3 SMAD4
19 renal/urinary system MP:0005367 9.92 DCN EDN1 EDNRA SMAD3 SMAD4 SPP1
20 respiratory system MP:0005388 9.81 CCN2 DCN EDNRA EPO F13A1 SMAD2
21 skeleton MP:0005390 9.73 CCN2 DCN EDN1 EDNRA EPO PIK3CA
22 vision/eye MP:0005391 9.23 CCN2 DCN EDNRA MAPKAP1 PIK3CA SMAD2

Drugs & Therapeutics for Nephrogenic Systemic Fibrosis

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Parenteral Nutrition Solutions Phase 4,Phase 3,Phase 1
2 Hematinics Phase 4,Phase 3,Phase 1
3 Ferrosoferric Oxide Phase 4,Phase 3,Phase 1
4 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
5 Protein Kinase Inhibitors Phase 3,Phase 2
6 Imatinib Mesylate Phase 3,Phase 2 220127-57-1 123596
7 Liver Extracts Phase 3
8 Plasma-lyte 148 Phase 1, Phase 2
9
Iodine Approved, Investigational 7553-56-2 807
10 cadexomer iodine

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Primovist / Eovist in Renally Impaired Patients Completed NCT00908596 Phase 4 Gadoxetic acid disodium (Primovist, BAY86-4873)
2 Safety of Gadovist in Renally Impaired Patients Completed NCT00828737 Phase 4 Gadobutrol (Gadovist, BAY86-4875)
3 Post-marketing Safety Study in Patients With Moderate Renal Insufficiency Who Receive Omniscan for Contrast-enhanced Magnetic Resonance Imaging (MRI) Completed NCT00908310 Phase 4 Omniscan
4 Feraheme As An MRI Contrast Agent For Pediatric Congenital Heart Disease Recruiting NCT02752191 Phase 4 ferumoxytol;gadofosveset
5 Plasmapheresis for Nephrogenic Fibrosing Dermopathy (NFD)/Nephrogenic Systemic Fibrosis (NSF) Terminated NCT01078987 Phase 4
6 Nephrogenic Systemic Fibrosis With Gadollinum Unknown status NCT01359345 Phase 2, Phase 3 gadollinum
7 Treatment of Patients With Nephrogenic Systemic Fibrosis With Glivec Completed NCT00981942 Phase 3 Imatinib mesylate (Glivec)
8 Efficacy and Safety of Primovist in Chinese Patients Completed NCT00526188 Phase 3 Gadoxetic Acid Disodium (Primovist, BAY86-4873)
9 Ferumoxytol for Magnetic Resonance Imaging in Patients With Severe Kidney Disease Enrolling by invitation NCT02954510 Phase 3 ferumoxytol
10 Pilot Study of Imatinib Mesylate to Treat Nephrogenic Systemic Fibrosis Completed NCT00677092 Phase 2 Imatinib mesylate
11 The Effect of Crystalloids and Colloids on Visceral Blood Flow Completed NCT01087853 Phase 1, Phase 2 Crystalloid;Colloid
12 MRA With Feraheme in HHT Completed NCT02977637 Phase 1
13 Nephrogenic Systemic Fibrosis (NSF): Analysis of Tissue Gadolinium Levels Completed NCT01014754
14 Validation of a Questionnaire to Identify Signs and Symptoms of Nephrogenic Systemic Fibrosis Completed NCT00869479
15 Prospective Evaluation of the Incidence of NSF in Patients With Kidney Disease Undergoing MR Completed NCT01135316 Ablavar
16 Risk of Nephrogenic Systemic Fibrosis (NSF) in Patients With Moderate Renal Insufficiency After the Administration of Magnevist Completed NCT00744939 Gadopentetate dimeglumine (Magnevist, BAY86-4882)
17 Evaluation of the Risk of Nephrogenic Systemic Fibrosis (NSF) in Patients With Chronic Kidney Disease Without Exposure to Gadolinium Based Contrast Agents (GBCA) Completed NCT00773409
18 Observational Study on the Incidence of NSF in Renal Impaired Patients Following Dotarem Administration Completed NCT01467271
19 Evaluation of the Risk of NSF Following ProHance Injection in Patients With Chronic Kidney Disease Completed NCT00600834
20 Evaluation of the Risk of NSF Following MultiHance Injection in Patients With Chronic Kidney Disease Completed NCT00600951
21 Observational Post-marketing Study on the Safety and Efficacy of Dotarem® (SECURE Study) Completed NCT01523873
22 Ferumoxytol Enhanced Magnetic Resonance Angiography in Chronic Kidney Disease Completed NCT02997046
23 Adverse Reactions to MR and CT-examinations (Enhanced and Unenhanced) Completed NCT01132339
24 Magnevist Post-marketing Surveillance in Japan Completed NCT01376739 Gadopentetate dimeglumine (Magnevist, BAY86-4882)
25 Evaluation of Gd Retention in Human Bone and Skin After MultiHance or ProHance Administration Compared With Control Recruiting NCT03108378
26 Pilot Study of the Effect of Laser on Reversing Chronic Radiation Injury Recruiting NCT01910818 Not Applicable
27 Evaluation of Nephrogenic Systemic Fibrosis (NSF) in Patients With Chronic Kidney Disease Following OptiMARK Injection Withdrawn NCT00811863

Search NIH Clinical Center for Nephrogenic Systemic Fibrosis

Genetic Tests for Nephrogenic Systemic Fibrosis

Anatomical Context for Nephrogenic Systemic Fibrosis

MalaCards organs/tissues related to Nephrogenic Systemic Fibrosis:

42
Skin, Kidney, Testes, Eye, Bone, Spinal Cord, Skeletal Muscle

Publications for Nephrogenic Systemic Fibrosis

Articles related to Nephrogenic Systemic Fibrosis:

(show top 50) (show all 521)
# Title Authors Year
1
Influence of excess ligand on Nephrogenic Systemic Fibrosis associated with nonionic, linear gadolinium-based contrast agents. ( 30471330 )
2019
2
Nephrogenic systemic fibrosis: in a child with primary hyperoxaluria. ( 30198190 )
2019
3
Calciphylaxis and nephrogenic fibrosing dermopathy with pseudoxanthoma elasticum-like changes: Successful treatment with sodium thiosulfate. ( 30663093 )
2019
4
Letter on 'European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 2: Scleromyxedema, scleredema and nephrogenic systemic fibrosis'. ( 29283443 )
2018
5
10 Years of Nephrogenic Systemic Fibrosis: A Comprehensive Analysis of Nephrogenic Systemic Fibrosis Reports Received by a Pharmaceutical Company from 2006 to 2016. ( 29547493 )
2018
6
Notice of Withdrawal: MR Imaging and Gadolinium: Reassessing the Risk of Nephrogenic Systemic Fibrosis in Patients with Severe Renal Disease. ( 29261455 )
2018
7
Notice of Withdrawal: No Incidence of Nephrogenic Systemic Fibrosis after Gadobenate Dimeglumine Administration in Patients Undergoing Dialysis or Those with Severe Chronic Kidney Disease. ( 28731375 )
2018
8
Nephrogenic Systemic Fibrosis in a Patient With Multiple Inflammatory Disorders. ( 30766365 )
2018
9
Gadolinium-Induced Nephrogenic Systemic Fibrosis. ( 29744004 )
2017
10
A unique case of nephrogenic systemic fibrosis from gadolinium exposure in a patient with normal eGFR. ( 29025775 )
2017
11
Nephrogenic systemic fibrosis: A survey of the use of gadolinium-based contrast agents in Ghana. ( 28965904 )
2017
12
GBCAs and Risk for Nephrogenic Systemic Fibrosis: A Literature Review. ( 28900045 )
2017
13
European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 2: Scleromyxedema, scleredema and nephrogenic systemic fibrosis. ( 28786499 )
2017
14
Erythema nodosum masking nephrogenic systemic fibrosis as initial skin manifestation. ( 28738858 )
2017
15
Photopheresis Provides Significant Long-Lasting Benefit in Nephrogenic Systemic Fibrosis. ( 28695022 )
2017
16
Nephrogenic systemic fibrosis. ( 28680623 )
2017
17
Prophylactic Hemodialysis for Protection Against Gadolinium-Induced Nephrogenic Systemic Fibrosis: A Doll's House. ( 28501073 )
2017
18
Nephrogenic systemic fibrosis: A 15-year retrospective study at a single tertiary care center. ( 28318680 )
2017
19
Gadolinium-Naive Nephrogenic Systemic Fibrosis of Breast Mimicking Inflammatory Breast Carcinoma. ( 28323787 )
2017
20
Nephrogenic systemic fibrosis: fibrotic plaques and contracture following exposure to gadolinium-based contrast media. ( 27073153 )
2016
21
Interaction of Gd-DTPA with phosphate and phosphite: toward the reaction intermediate in nephrogenic systemic fibrosis. ( 26906409 )
2016
22
Incidence of Nephrogenic Systemic Fibrosis Using Gadobenate Dimeglumine in 1423 Patients With Renal Insufficiency Compared With Gadodiamide. ( 26885631 )
2016
23
Nephrogenic systemic fibrosis: a serious adverse reaction to gadolinium - 1997-2006-2016. Part 2. ( 26802070 )
2016
24
Nephrogenic systemic fibrosis: a serious adverse reaction to gadolinium - 1997-2006-2016. Part 1. ( 26802069 )
2016
25
Involvement of the renin-angiotensin system in the development of nephrogenic systemic fibrosis-like lesions in the RenTag mouse model. ( 26138357 )
2016
26
Do ASARM peptides play a role in nephrogenic systemic fibrosis? ( 26336161 )
2015
27
Evidence Suggesting a Role of Iron in a Mouse Model of Nephrogenic Systemic Fibrosis. ( 26305890 )
2015
28
Prospective Cohort Study of Nephrogenic Systemic Fibrosis in Patients With Stage 3-5 Chronic Kidney Disease Undergoing MRI With Injected Gadobenate Dimeglumine or Gadoteridol. ( 26295633 )
2015
29
Nephrogenic systemic fibrosis following gadolinium administration. ( 26244362 )
2015
30
An Updated Study to Determine Association between Gadolinium-Based Contrast Agents and Nephrogenic Systemic Fibrosis. ( 26076348 )
2015
31
Nephrogenic Systemic Fibrosis Manifesting a Decade After Exposure to Gadolinium. ( 26017458 )
2015
32
Gadobenate Dimeglumine Administration and Nephrogenic Systemic Fibrosis: Is There a Real Risk in Patients with Impaired Renal Function? ( 25875973 )
2015
33
Nephrogenic Systemic Fibrosis on Mammography. ( 25858556 )
2015
34
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
35
Diagnosis of nephrogenic systemic fibrosis by means of elemental bioimaging and speciation analysis. ( 25708271 )
2015
36
Safety of magnetic resonance contrast media: a review with special focus on nephrogenic systemic fibrosis. ( 25654421 )
2015
37
Compensatory biliary and urinary excretion of gadobenate ion after administration of gadobenate dimeglumine (MultiHance(®)) in cases of impaired hepatic or renal function: a mechanism that may aid in the prevention of nephrogenic systemic fibrosis? ( 25651409 )
2015
38
Half-dose gadoxetic acid-enhanced liver magnetic resonance imaging in patients at risk for nephrogenic systemic fibrosis. ( 25591579 )
2015
39
Nephrogenic systemic fibrosis in a gadolinium-naïve patient: successful treatment with oral sirolimus. ( 25330850 )
2015
40
Perforating osteoma cutis in the setting of longstanding nephrogenic systemic fibrosis. ( 24962809 )
2015
41
Diagnosing nephrogenic systemic fibrosis in the post-FDA restriction era. ( 24903851 )
2015
42
Risk of nephrogenic systemic fibrosis is low in patients with chronic liver disease exposed to gadolinium-based contrast agents. ( 24811860 )
2015
43
The role of gadolinium chelates in the mechanism of nephrogenic systemic fibrosis: A critical update. ( 25257840 )
2014
44
Advancing pharmacovigilance through academic-legal collaboration: the case of gadolinium-based contrast agents and nephrogenic systemic fibrosis-a Research on Adverse Drug Events and Reports (RADAR) report. ( 25230161 )
2014
45
Role of endothelin-1/endothelin receptor signaling in fibrosis and calcification in nephrogenic systemic fibrosis. ( 25048859 )
2014
46
Renal function, nephrogenic systemic fibrosis and other adverse reactions associated with gadolinium-based contrast media. ( 25036056 )
2014
47
Superior vena cava obstruction associated with nephrogenic systemic fibrosis. ( 24809889 )
2014
48
Nephrogenic systemic fibrosis risk and liver disease. ( 24778878 )
2014
49
Nephrogenic systemic fibrosis is associated with hypophosphataemia: a case-control study. ( 24706993 )
2014
50
Current status of nephrogenic systemic fibrosis. ( 24582176 )
2014

Variations for Nephrogenic Systemic Fibrosis

Expression for Nephrogenic Systemic Fibrosis

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

Pathways for Nephrogenic Systemic Fibrosis

Pathways related to Nephrogenic Systemic Fibrosis according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 CCL7 CXCL2 EDN1 EDNRA EPO SMAD3
2
Show member pathways
13.52 CCL7 CCN2 EPO PIK3CA SMAD2 SMAD3
3
Show member pathways
13.3 CCL7 CCN2 CXCL2 SMAD3 SMAD4 TGFB1
4
Show member pathways
13.1 CXCL2 PIK3CA SMAD2 SMAD3 SPP1 TGFB1
5
Show member pathways
12.85 PIK3CA SMAD2 SMAD3 SMAD4 TGFB1
6 12.84 EDNRA EPO PIK3CA SMAD2 SMAD3 SMAD4
7
Show member pathways
12.82 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
8
Show member pathways
12.76 PIK3CA SMAD2 SMAD3 SMAD4 TGFB1
9
Show member pathways
12.54 PIK3CA SMAD2 SMAD3 SMAD4 TGFB1
10
Show member pathways
12.5 SMAD2 SMAD3 SMAD4 TGFB1
11
Show member pathways
12.46 SMAD2 SMAD3 SMAD4 TGFB1
12 12.37 PIK3CA SMAD2 SMAD3 SMAD4 TGFB1
13 12.36 SMAD2 SMAD3 SMAD4 TGFB1
14
Show member pathways
12.35 SMAD2 SMAD3 SMAD4 SMAD7
15
Show member pathways
12.31 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
16 12.3 DCN PIK3CA SMAD2 TGFB1
17 12.26 CCN2 SMAD2 SMAD3 SMAD4 TGFB1
18
Show member pathways
12.23 SMAD2 SMAD3 SMAD4 TGFB1
19 12.18 SMAD2 SMAD3 SMAD4 TGFB1
20 12.17 PIK3CA SMAD2 SMAD3 TGFB1
21
Show member pathways
12.11 PIK3CA SMAD2 SMAD3 SMAD4 TGFB1
22 12.1 PIK3CA SMAD2 SMAD3 SMAD4
23 12.1 CCN2 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
24 12.09 CCN2 SMAD2 SMAD3 SMAD4 SPP1
25
Show member pathways
12.07 SMAD2 SMAD3 SMAD4 TGFB1
26 12.07 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
27 12.06 SMAD2 SMAD3 SMAD4 TGFB1
28 12 PIK3CA SMAD3 SMAD4 TGFB1
29 11.95 F13A1 TGFB1 TIMP1
30 11.94 CXCL2 EDN1 PIK3CA
31 11.93 EDN1 EPO PIK3CA TIMP1
32 11.92 SMAD3 SMAD4 TGFB1
33 11.9 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
34
Show member pathways
11.89 SMAD2 SMAD3 SMAD4 TGFB1
35 11.85 EDN1 PIK3CA SMAD2 SMAD3 SMAD4 TGFB1
36
Show member pathways
11.82 CCL7 CCN2 PIK3CA SMAD2 SMAD3 SMAD4
37 11.79 SMAD2 SMAD3 SMAD4 SMAD7
38 11.77 DCN SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
39 11.73 SMAD2 SMAD3 SMAD4
40 11.73 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
41 11.71 EDN1 EPO SMAD3 SMAD4
42 11.7 SMAD2 SMAD3 SMAD4 TGFB1
43
Show member pathways
11.7 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
44
Show member pathways
11.62 PIK3CA SMAD2 SMAD3 SMAD4 TGFB1
45 11.56 SMAD3 SMAD4 TGFB1
46
Show member pathways
11.55 SMAD2 SMAD3 SMAD4
47 11.5 SMAD2 SMAD3 SMAD4 SMAD7 SPP1 TGFB1
48 11.29 SMAD2 SMAD3 SMAD4 TGFB1
49
Show member pathways
11.25 SMAD4 SMAD7 TGFB1
50
Show member pathways
11.21 PIK3CA SMAD3 SMAD4

GO Terms for Nephrogenic Systemic Fibrosis

Cellular components related to Nephrogenic Systemic Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 CCL7 CCN2 CXCL2 DCN EDN1 EPO
2 extracellular region GO:0005576 9.85 CCL7 CCN2 CXCL2 DCN EDN1 EPO
3 extracellular matrix GO:0031012 9.76 CCN2 DCN TGFB1 TIMP1
4 collagen-containing extracellular matrix GO:0062023 9.73 DCN F13A1 TGFB1 TGM2
5 transcription factor complex GO:0005667 9.71 SMAD2 SMAD3 SMAD4 SMAD7
6 platelet alpha granule lumen GO:0031093 9.54 F13A1 TGFB1 TIMP1
7 activin responsive factor complex GO:0032444 9.32 SMAD2 SMAD4
8 heteromeric SMAD protein complex GO:0071144 8.96 SMAD2 SMAD3
9 SMAD protein complex GO:0071141 8.8 SMAD2 SMAD3 SMAD4

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.99 CCL7 CCN2 EPO TGFB1
2 heart development GO:0007507 9.99 EDN1 EDNRA SMAD2 TGFB1
3 cytokine-mediated signaling pathway GO:0019221 9.99 CXCL2 F13A1 PIK3CA TGFB1 TIMP1
4 positive regulation of cell migration GO:0030335 9.97 CCL7 EDN1 SMAD3 TGFB1
5 aging GO:0007568 9.93 CCN2 DCN EPO TGFB1 TIMP1
6 response to organic substance GO:0010033 9.89 SPP1 TGFB1 TIMP1
7 neutrophil chemotaxis GO:0030593 9.87 CCL7 CXCL2 EDN1
8 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.87 MAPKAP1 PIK3CA TGFB1
9 regulation of signaling receptor activity GO:0010469 9.86 CCL7 CCN2 CXCL2 EDN1 EPO SPP1
10 response to glucose GO:0009749 9.85 CCN2 SMAD2 TGFB1
11 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.85 SMAD2 SMAD3 SMAD7 TGFB1
12 transforming growth factor beta receptor signaling pathway GO:0007179 9.85 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 EDN1 SMAD3 SMAD7 TGFB1
14 wound healing GO:0042060 9.83 DCN SMAD2 SMAD3 TGFB1 TIMP1
15 SMAD protein signal transduction GO:0060395 9.81 SMAD2 SMAD3 SMAD4 TGFB1
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.8 SMAD2 SMAD3 SMAD4 TGFB1
17 response to hypoxia GO:0001666 9.8 EDN1 EDNRA EPO SMAD3 SMAD4 TGFB1
18 ureteric bud development GO:0001657 9.78 SMAD2 SMAD3 SMAD7 TGFB1
19 gastrulation GO:0007369 9.77 SMAD2 SMAD3 SMAD4
20 in utero embryonic development GO:0001701 9.77 EDN1 EDNRA SMAD2 SMAD3 SMAD4
21 developmental growth GO:0048589 9.76 SMAD2 SMAD3 SMAD4
22 activin receptor signaling pathway GO:0032924 9.72 SMAD2 SMAD3
23 vasoconstriction GO:0042310 9.72 EDN1 EDNRA
24 secondary palate development GO:0062009 9.72 SMAD2 SMAD4
25 lens fiber cell differentiation GO:0070306 9.71 SMAD3 TGFB1
26 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 SMAD7 TGFB1
27 cell activation GO:0001775 9.71 TGFB1 TIMP1
28 positive regulation of SMAD protein signal transduction GO:0060391 9.71 SMAD4 TGFB1
29 endoderm development GO:0007492 9.71 SMAD2 SMAD3 SMAD4 TGFB1
30 response to dexamethasone GO:0071548 9.7 EDN1 EPO
31 response to transforming growth factor beta GO:0071559 9.7 EDN1 SMAD4
32 artery smooth muscle contraction GO:0014824 9.68 EDN1 EDNRA
33 nodal signaling pathway GO:0038092 9.68 SMAD2 SMAD3
34 primary miRNA processing GO:0031053 9.68 SMAD2 SMAD3
35 response to cholesterol GO:0070723 9.67 SMAD2 TGFB1
36 embryonic foregut morphogenesis GO:0048617 9.66 SMAD2 SMAD3
37 pericardium development GO:0060039 9.66 SMAD2 SMAD3
38 response to laminar fluid shear stress GO:0034616 9.65 SMAD7 TGFB1
39 regulation of glucose transmembrane transport GO:0010827 9.65 EDN1 EDNRA
40 common-partner SMAD protein phosphorylation GO:0007182 9.64 SMAD2 TGFB1
41 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.64 TGFB1 TIMP1
42 positive regulation of extracellular matrix assembly GO:1901203 9.63 SMAD3 TGFB1
43 response to salt GO:1902074 9.63 EDN1 TGFB1
44 positive regulation of odontogenesis GO:0042482 9.62 EDN1 TGFB1
45 regulation of striated muscle tissue development GO:0016202 9.61 SMAD3 TGFB1
46 regulation of transforming growth factor beta2 production GO:0032909 9.61 SMAD3 SMAD4
47 evasion or tolerance of host defenses by virus GO:0019049 9.57 SMAD3 TGFB1
48 paraxial mesoderm morphogenesis GO:0048340 9.56 SMAD2 SMAD3
49 SMAD protein complex assembly GO:0007183 9.46 SMAD2 SMAD3 SMAD4 TGFB1
50 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.35 SMAD2 SMAD3 SMAD4 SMAD7 TGFB1

Molecular functions related to Nephrogenic Systemic Fibrosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 9.58 SMAD2 SMAD3 TGFB1
2 collagen binding GO:0005518 9.56 DCN SMAD3 SMAD4 SMAD7
3 R-SMAD binding GO:0070412 9.54 SMAD2 SMAD3 SMAD4
4 enhancer binding GO:0035326 9.51 SMAD2 SMAD3
5 co-SMAD binding GO:0070410 9.49 SMAD2 SMAD3
6 protein-glutamine gamma-glutamyltransferase activity GO:0003810 9.48 F13A1 TGM2
7 primary miRNA binding GO:0070878 9.46 SMAD2 SMAD3
8 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.43 SMAD2 SMAD3
9 type I transforming growth factor beta receptor binding GO:0034713 9.33 SMAD2 SMAD7 TGFB1
10 cytokine activity GO:0005125 9.17 CCL7 CXCL2 EDN1 EPO SPP1 TGFB1
11 I-SMAD binding GO:0070411 9.13 SMAD2 SMAD4 SMAD7
12 protein binding GO:0005515 10.28 CCL7 CCN2 CXCL2 DCN EDN1 EDNRA

Sources for Nephrogenic Systemic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
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47 MGI
50 NCI
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55 NINDS
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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