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MCID: NPH012
MIFTS: 60

Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Nephrotic Syndrome

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MalaCards integrated aliases for Nephrotic Syndrome:

Name: Nephrotic Syndrome 12 74 36 29 54 6 43 15 39 17 71 32
Finnish Congenital Nephrotic Syndrome 71

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases Blood diseases Endocrine diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:1184
KEGG 36 H01657
ICD9CM 34 581
MeSH 43 D009404
NCIt 49 C34845
SNOMED-CT 67 52254009
ICD10 32 N04 N04.9
UMLS 71 C0027726 C0403399
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Summaries for Nephrotic Syndrome

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KEGG : 36 Nephrotic syndrome is a heterogeneous group of disorders characterized by heavy proteinuria (more than 3.5 grams per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. First line treatment is with oral corticosteroids, but some patients do not respond to this treatment. Steroid-resistant nephrotic syndrome (SRNS) typically manifests histologically as focal segmental glomerulosclerosis. Calcineurin inhibitors with/without intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for SRNS. It has been reported that additional rituximab treatment combined with conventional MPT and immunosuppressive agents is a promising option.

MalaCards based summary : Nephrotic Syndrome, also known as finnish congenital nephrotic syndrome, is related to nephrotic syndrome, type 1 and nephrotic syndrome, type 2, and has symptoms including edema An important gene associated with Nephrotic Syndrome is NPHS2 (NPHS2 Stomatin Family Member, Podocin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Influenza Viral RNA Transcription and Replication. The drugs Entecavir and Valsartan have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.

Wikipedia : 74 Nephrotic syndrome is a collection of symptoms due to kidney damage. This includes protein in the urine,... more...

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Related Diseases for Nephrotic Syndrome

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Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 20 Nephrotic Syndrome, Type 2
Nephrotic Syndrome, Type 3 Nephrotic Syndrome, Type 6
Nephrotic Syndrome, Type 7 Nephrotic Syndrome, Type 8
Nephrotic Syndrome, Type 9 Nephrotic Syndrome, Type 10
Nephrotic Syndrome, Type 11 Nephrotic Syndrome, Type 12
Nephrotic Syndrome, Type 13 Nephrotic Syndrome, Type 14
Nephrotic Syndrome, Type 15 Nephrotic Syndrome, Type 16
Nephrotic Syndrome, Type 17 Nephrotic Syndrome, Type 18
Nephrotic Syndrome, Type 19 Nephrotic Syndrome, Type 21
Familial Nephrotic Syndrome

Diseases related to Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1262)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 35.0 WT1 NPHS2 NPHS1
2 nephrotic syndrome, type 2 34.9 PLCE1 NPHS2 NPHS1
3 nephrotic syndrome, type 10 34.8 NPHS2 NPHS1 EMP2
4 familial nephrotic syndrome 34.6 WT1 PTPRO PLCE1 NPHS2 NPHS1 COQ8B
5 genetic nephrotic syndrome 34.3 WT1 NPHS2
6 coenzyme q10 deficiency, primary, 6 34.0 COQ8B COQ6
7 galloway-mowat syndrome 33.8 NUP133 NUP107 NPHS2 NPHS1 LAMB2
8 pierson syndrome 33.8 WT1 PLCE1 NPHS2 NPHS1 LAMB2 ITGA3
9 hypoparathyroidism, sensorineural deafness, and renal disease 33.6 NPHS2 NPHS1 LAMB2
10 focal segmental glomerulosclerosis 1 33.5 PLCE1 NPHS2 NPHS1 COQ8B
11 membranous nephropathy 33.5 WT1 NPHS2 NPHS1
12 focal segmental glomerulosclerosis 2 33.4 NPHS2 NPHS1 COQ8B
13 frasier syndrome 33.4 WT1 PLCE1 NUP107 NPHS2 NPHS1 COQ8B
14 denys-drash syndrome 33.4 WT1 PLCE1 NPHS2 NPHS1
15 galloway-mowat syndrome 1 33.2 PTPRO PLCE1 NUP93 NUP205 NUP133 NUP107
16 focal segmental glomerulosclerosis 7 33.2 LAMB2 EMP2 COQ8B
17 focal segmental glomerulosclerosis 5 33.1 NPHS2 COQ8B
18 schimke immunoosseous dysplasia 33.1 NUP93 NUP205 NUP107 NPHS2
19 genetic steroid-resistant nephrotic syndrome 33.0 WT1 TBC1D8B PTPRO PLCE1 NUP93 NUP205
20 coenzyme q10 deficiency disease 33.0 COQ8B COQ6
21 diffuse mesangial sclerosis 32.7 WT1 PLCE1 NPHS2 NPHS1 LAMB2 ARHGDIA
22 focal segmental glomerulosclerosis 32.4 WT1 PTPRO PLCE1 NUP93 NUP107 NPHS2
23 coenzyme q10 deficiency, primary, 3 32.3 COQ8B COQ6
24 focal segmental glomerulosclerosis 9 32.0 LAMB2 EMP2 COQ8B
25 focal segmental glomerulosclerosis 8 31.9 LAMB2 EMP2 COQ8B
26 glomerular disease 31.9 NPHS2 NPHS1
27 congenital syphilis 31.1 PLCE1 NPHS2 NPHS1
28 crescentic glomerulonephritis 30.8 WT1 PTPRO NPHS2
29 nail-patella syndrome 30.8 PLCE1 NPHS2 NPHS1
30 iga nephropathy 1 30.8 NPHS2 NPHS1
31 acute proliferative glomerulonephritis 30.2 NPHS2 NPHS1
32 nephrotic syndrome, type 3 12.7
33 nephrotic syndrome, type 4 12.7
34 nephrotic syndrome, type 6 12.7
35 nephrotic syndrome, type 14 12.7
36 nephrotic syndrome, type 13 12.6
37 nephrotic syndrome, type 20 12.6
38 nephrotic syndrome, type 9 12.6
39 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 12.6
40 nephrotic syndrome, type 12 12.6
41 nephrotic syndrome, type 8 12.6
42 congenital nephrotic syndrome finnish type 12.6
43 nephrotic syndrome, type 11 12.6
44 nephrotic syndrome, type 15 12.6
45 nephrotic syndrome, type 17 12.6
46 nephrotic syndrome, type 18 12.6
47 nephrotic syndrome, type 16 12.6
48 nephrotic syndrome, type 7 12.6
49 nephrotic syndrome, type 5, with or without ocular abnormalities 12.6
50 nephrotic syndrome, type 19 12.6

Graphical network of the top 20 diseases related to Nephrotic Syndrome:



Diseases related to Nephrotic Syndrome
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Symptoms & Phenotypes for Nephrotic Syndrome

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UMLS symptoms related to Nephrotic Syndrome:


edema

GenomeRNAi Phenotypes related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.63 TBC1D8B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.63 WT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.63 TBC1D8B WT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.63 NUP93
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 9.63 TBC1D8B
6 Nuclear 60S biogenesis defects GR00209-A-3 9.13 NUP160 NUP205 NUP93
7 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.92 NUP107 NUP160 NUP205 NUP93

MGI Mouse Phenotypes related to Nephrotic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ARHGDIA EMP2 ITGA3 MAGI2 NPHS2 NUP133
2 renal/urinary system MP:0005367 9.28 ARHGDIA ITGA3 LAMB2 MAGI2 NPHS1 NPHS2
Sources

Drugs & Therapeutics for Nephrotic Syndrome

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Drugs for Nephrotic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 207)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
3
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
4
Amlodipine Approved Phase 4 88150-42-9 2162
5
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
9
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
10
Ramipril Approved Phase 4 87333-19-5 5362129
11
Cosyntropin Approved Phase 4 16960-16-0 16129617
12
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
13
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
14
Amiloride Approved Phase 4 2016-88-8, 2609-46-3 16231
15
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
16
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
17
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
18
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
19
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
20 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
21
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
22
Mycophenolic acid Approved Phase 4 24280-93-1 446541
23
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
24
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
25
Pravastatin Approved Phase 4 81093-37-0 54687
26
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
27
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
28
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
29
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
30
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
31
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
32
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
33
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
34
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
35 Tocotrienol Investigational Phase 4 6829-55-6
36 Antiviral Agents Phase 4
37 Angiotensin II Type 1 Receptor Blockers Phase 4
38 Angiotensinogen Phase 4
39 Angiotensin Receptor Antagonists Phase 4
40 Giapreza Phase 4
41 Immunoglobulin A Phase 4
42 Gastrointestinal Agents Phase 4
43 Antiemetics Phase 4
44 Neuroprotective Agents Phase 4
45 Vasodilator Agents Phase 4
46 Anticonvulsants Phase 4
47 Carbonic Anhydrase Inhibitors Phase 4
48 Mitogens Phase 4
49 Calcium, Dietary Phase 4
50 Epinephryl borate Phase 4

Interventional clinical trials:

(show top 50) (show all 196)
# Name Status NCT ID Phase Drugs
1 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
2 Study of Safety, Immunogenicity and Immunological Memory of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
3 Adjusted Steroid Therapy in Children With Idiopathic Nephrotic Syndrome Unknown status NCT02649413 Phase 4 Prednisone
4 Treatment of Nephrotic Syndrome Relapse With Low Steroid Dose Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
5 The Therapy of Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis : A Multicenter, Prospective, Randomized, Controlled, Single-blind Trial. Unknown status NCT03062813 Phase 4 Tacrolimus &entecavir;placebo & entecavir
6 Intensive Medical Treatment for Nephropathy Caused by Type 2 Diabetes With Hypertension Unknown status NCT00407680 Phase 4 Intensive therapy Valsartan,Fluvastatin
7 Population Pharmacokinetics of Tacrolimus in Children With Nephrotic Syndrome Completed NCT03347357 Phase 4 Tacrolimus
8 Open-Label, Randomized, Comparative, Multi-Center Clinical Trial on the Therapeutic Effect of Tacrolimus (Prograf Cap.®) in Combination With Low-Dose Corticosteroid Compared With High-Dose Corticosteroid Alone in Patients With Minimal-Change Nephrotic Syndrome (MCNS) Completed NCT01763580 Phase 4 Tacrolimus;Prednisolone
9 A Prospective, Randomized, Open-label Study Evaluating the Efficacy of Mycophenolate Mofetil in the Prevention of Relapse of Steroid Dependent Nephrotic Syndrome in Children Completed NCT01895894 Phase 4 Mycophenolate mofetil
10 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
11 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
12 A Randomized, Placebo-Controlled, Parallel-Group, Double-Blind Study of H.P. Acthar Gel (Acthar) in Treatment-Resistant Subjects With Persistent Proteinuria and Nephrotic Syndrome Due to Idiopathic Membranous Nephropathy (iMN) Completed NCT01386554 Phase 4 Repository Corticotropin Injection;Placebo
13 Myfortic® Combined With Low-dose Steroid in Minimal Change Nephrotic Syndrome Completed NCT01185197 Phase 4 Myfortic plus low-dose steroid;Prednisolone
14 Acetazolamide and Hydrochlorothiazide Followed by Furosemide Versus Hydrochlorothiazide and Furosemide Followed by Furosemide for the Treatment of Adults With Refractory Nephrotic Edema: A Randomized, Double-Blind Trial Completed NCT02427880 Phase 4 Acetazolamide and Hydrochlorothiazide Followed by Furosemide;Furosemide and Hydrochlorothiazide Followed by Furosemide
15 Tacrolimus vs Prednisolone for the Treatment Minimal Change Disease Completed NCT00982072 Phase 4 tacrolimus;prednisolone
16 Mycophenolate Mofetil and Tacrolimus vs Tacrolimus Alone for the Treatment of Idiopathic Membranous Glomerulonephritis (IMG) Completed NCT00843856 Phase 4 tacrolimus;tacrolimus and mycophenolate mofetil
17 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
18 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4 Methylprednisolone pulses plus prednisone versus Cyclosporine A
19 "Safety and Efficacy of Acthar Gel on Albuminuria and Urinary Transforming Growth Factor Excretion in Type I or Type II Diabetics Requiring Medical Treatment of Hyperglycemia With Nephrotic Range Proteinuria: A Pilot Study" Completed NCT01028287 Phase 4 ACTH;ACTH
20 The Effect of Renin Angiotensin System Blockage (RAS) Blockade On PTX3 Levels In Diabetic Patients With Proteinuria Completed NCT00674596 Phase 4 ramipril
21 Vitamin D Supplementation in Children and Adolescents Seen in the Paediatric Nephrology Service: Study of the Efficacy of Service Usual Care (Cholecalciferol) and Its Impact on Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
22 Effect of Calcium Channel Blocker on the Serum Fibrobalst Growth Factor-23 (FGF-23) Levels in Type-2 Diabetic Patients With Proteinuria Purpose Completed NCT01738945 Phase 4 Amlodipine
23 Effect of Renin Angiotensin System Blockade on CD95 and ADMA Levels in Type-2 Diabetic Patients With Proteinuria Completed NCT00893425 Phase 4 ramipril
24 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
25 FGF-23 and Endothelial Dysfunction in Diabetic Proteinuric Patients Completed NCT01703234 Phase 4 Ramipril
26 The Effects of Renin Angiotensin System Blockage (RAS), Calcium Channel Blocker and Combine Drugs on TWEAK, PTX3 and FMD Levels in Diabetic Proteinuric Patients With Hypertension Completed NCT00921570 Phase 4 Amlodipine;Valsartan
27 Study of Tacrolimus vs Mycophenolate Mofetil in Pediatric Patients With Frequently Relapsing or Steroid Dependent Nephrotic Syndrome: a Randomized, Multicenter, Open-label, Parallel-arm Study Recruiting NCT04048161 Phase 4 Tacrolimus;Mycophenolate Mofetil
28 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
29 A Prospective Randomized, Controlled Trial of Mycophenolate Mofetil Plus Steroid in the Treatment Of Patients With Progressive Idiopathic Membranous Nephropathy Recruiting NCT03170323 Phase 4 Mycophenolate Mofetil;Cyclosporins
30 Treatment of Primary Minimal Change Nephropathy: A Randomized Open-labeled Non-inferiority Study on Prednisolone and Vitamin D Recruiting NCT03210688 Phase 4 Prednisolone;Alfacalcidol
31 Changes in Autoreactive Memory B Cells as Biomarker of Response to Adrenocorticotropic Hormone in Patients With Membranous Nephropathy Recruiting NCT03025828 Phase 4 ACTHar
32 The Effect and Safety of Amiloride in Decreasing Proteinuria for Patients With Chronic Kidney Disease in a Prospective , Crossover, Open-label Study. Recruiting NCT03170336 Phase 4 Amiloride;Hydrochlorothiazide
33 A Multinational Prospective Study on the Duration of Steroid Therapy in Steroid Sensitive Nephrotic Syndrome Not yet recruiting NCT03878914 Phase 4 Corticosteroids
34 Multitarget Therapy for Idiopathic Membranous Nephropathy Not yet recruiting NCT04424862 Phase 4 Prednisone, ciclosporin and mycophenolate mofetil;Ponticelli Regimen
35 Effect of an Oxidative-Stress-Reducing Strategy Consisting of Pravastatin, Vitamin E and Homocysteine-Lowering on Carotid Intima-Media Thickness in Patients With Mild-to-Moderate Chronic Kidney Disease Terminated NCT00384618 Phase 4 pravastatin;vitamin E
36 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
37 ADRENL - ACTHAR Gel for Drug REsistant Nephrotic Syndrome in Children, Pilot Study Withdrawn NCT03408405 Phase 4 Acthar Gel 80 UNT/ML Injectable Solution
38 A Multi-center Randomized Controlled Trial of Rituximab for Refractory Nephrotic Syndrome in Children Unknown status NCT01716442 Phase 2, Phase 3 Rituximab;Placebo
39 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT02896270 Phase 2, Phase 3 Valproic Acid
40 Prospective Randomized Multicentric Open Label Study to Evaluate Rituximab Treatment for Idiopathic Membranous Nephropathy (IMN) Unknown status NCT01508468 Phase 3 symptomatic treatment (Converting Enzyme inhibitor, Angiotensin II, Anti-renin, Aldosterone antagonist diuretic, Beta blocker, Calcium inhibitor, statin);experimental (Non Immunosuppressive Symptomatic Treatment (NIST) and Rituximab)
41 A Multi-center, Randomized, Controlled, Open-label Clinical Study to Evaluate the Efficacy and Safety of Mizoribine in Comparison With Cyclophosphamide in the Treatment of Refractory Nephrotic Syndrome Completed NCT02257697 Phase 3 Mizoribine (MZR);Cyclophosphamide (CTX)
42 The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) Completed NCT01309477 Phase 3 Tacrolimus Sustained-release Capsules (ADVAGRAF)
43 Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS) Completed NCT00615667 Phase 3 tacrolimus (FK506)
44 Phase 3 Study of Tacrolimus Combined With Prednisone Treatment of Idiopathic Membranous Nephropathy and Nephrotic Syndrome Completed NCT00362531 Phase 2, Phase 3 tacrolimus combined with prednisone
45 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
46 A Prospective, Randomized, Double Blind, Placebo-controlled Phase II/III Study Evaluating the Efficacy of Rituximab in the Prevention of Relapse of Calcineurin Inhibitors Dependent Idiopathic Nephrotic Syndrome of Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
47 Clinical Efficacy of Pentoxifylline on Patients With Primary Nephrotic Syndrome Completed NCT00354731 Phase 3 pentoxifylline;Corticosteroid
48 Low Steroid Dose Combined With Mycophenolic Acid (Myfortic) Compared With High Dose Steroid for Minimal Change Nephrotic Syndrome Completed NCT01197040 Phase 3 Prednisone;acid mycophenolic (Myfortic)
49 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3 Tacrolimus;Rituximab
50 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome Completed NCT02132195 Phase 3 ACTH

Search NIH Clinical Center for Nephrotic Syndrome

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


Bendroflumethiazide
benzthiazide
Bumetanide
Chlorothiazide
Chlorothiazide sodium
Chlorthalidone
Cyclophosphamide
cyclothiazide
Ethacrynate Sodium
Ethacrynic Acid
Furosemide
Hydrochlorothiazide
Hydroflumethiazide
Indapamide
Methyclothiazide
Metolazone
Polythiazide
quinethazone
torsemide
Trichlormethiazide

Cochrane evidence based reviews: nephrotic syndrome

Sources

Genetic Tests for Nephrotic Syndrome

About this section

Genetic tests related to Nephrotic Syndrome:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome 29
Sources

Anatomical Context for Nephrotic Syndrome

About this section

MalaCards organs/tissues related to Nephrotic Syndrome:

40
Kidney, Liver, Bone, Testes, Thyroid, Lung, T Cells
Sources

Publications for Nephrotic Syndrome

About this section

Articles related to Nephrotic Syndrome:

(show top 50) (show all 18018)
# Title Authors PMID Year
1
Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations. 54 61
20191369 2010
2
Non-immunologic mechanisms of calcineurin inhibitors explain its antiproteinuric effects in genetic glomerulopathies. 54 61
20195644 2010
3
Effect of angiotensin-converting enzyme gene insertion/deletion polymorphism on steroid resistance in Egyptian children with idiopathic nephrotic syndrome. 54 61
20418353 2010
4
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 61 54
20497763 2010
5
c-mip impairs podocyte proximal signaling and induces heavy proteinuria. 61 54
20484117 2010
6
Changes in glomerular mesangium in kidneys with congenital nephrotic syndrome of the Finnish type. 54 61
20020158 2010
7
Genetic kidney diseases. 61 54
20382325 2010
8
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. 54 61
19956976 2010
9
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. 61 54
20441703 2010
10
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 54 61
19812541 2009
11
Nephrotic syndrome in diabetic kidney disease: an evaluation and update of the definition. 61 54
19556043 2009
12
Idiopathic nephrotic syndrome and atopy: is there a common link? 54 61
19556042 2009
13
Use of recombinant human serum albumin in pediatric patients with nephrotic syndrome. 54 61
19475428 2009
14
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. 54 61
19495806 2009
15
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 61 54
19321760 2009
16
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains. 54 61
19443487 2009
17
Mesothelioma of the testis and nephrotic syndrome: a case report. 54 61
19830148 2009
18
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 61 54
19131354 2009
19
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 61 54
19406966 2009
20
ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor. 54 61
19404519 2009
21
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 61 54
19127206 2009
22
Association of polymorphisms at restriction enzyme recognition sites of apolipoprotein B and E gene with dyslipidemia in children undergoing primary nephrotic syndrome. 61 54
18512131 2009
23
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. 54 61
19371226 2009
24
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 61 54
19145239 2009
25
Paraneoplastic glomerular diseases and malignancies. 54 61
18790651 2009
26
Randomized cross-over trial comparing albumin and frusemide infusions in nephrotic syndrome. 61 54
19142668 2009
27
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. 54 61
19282856 2009
28
Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses. 54 61
19153070 2009
29
NPHS2 mutations in children with steroid-resistant nephrotic syndrome. 61 54
19395786 2009
30
[Resistance to curative treatment by unfractionned heparin]. 61 54
18814940 2009
31
[Genetic variations of NPHS2 and WT1 genes in 15 Chinese children with sporadic steroid-resistant nephrotic syndrome]. 54 61
19573440 2009
32
A case of membranous nephropathy associated with chronic sinusitis. 61 54
19384848 2009
33
Atherosclerosis risk factors in young patients formerly treated for idiopathic nephrotic syndrome. 61 54
18972136 2009
34
Effects of uroguanylin on natriuresis in experimental nephrotic rats. 54 61
19054333 2009
35
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 61 54
20001346 2009
36
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. 61 54
19562271 2009
37
The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm. 54 61
18971929 2009
38
A new link between steroid resistance, glucocorticoid receptor and nuclear factor kappa B p65 in idiopathic nephrotic syndrome. 61 54
20035271 2009
39
Is dyslipidemia sustained during remission of nephrotic syndrome genetically determined? Evaluation of genetic polymorphisms of proteins involved in lipoprotein metabolism in children and adolescents with nephrotic syndrome. 61 54
19341173 2009
40
[Immunosuppressive treatment of idiopathic membranous glomerulonephritis with nephrotic syndrome]. 61 54
20088170 2009
41
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 54 61
19194555 2009
42
[Successful treatment of early intervention with tacrolimus for a patient with lupus nephritis III+V]. 54 61
19122377 2008
43
Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation. 61 54
19067903 2008
44
Relationship between plasma leptin or soluble cleaved leptin-receptor concentrations and glucocorticoid sensitivity of peripheral blood mononuclear cells in patients with nephrotic syndrome. 61 54
18700169 2008
45
The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. 61 54
18499321 2008
46
[The histological picture of CRF in kidney grafts]. 54 61
19048584 2008
47
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 61 54
18503012 2008
48
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 54 61
18614772 2008
49
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. 54 61
18543005 2008
50
[Clinical characteristics and WT1 genetic analysis of patients with steroid-resistant nephrotic syndrome accompanied with genitourinary malformations]. 54 61
19099861 2008
Sources

Variations for Nephrotic Syndrome

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ClinVar genetic disease variations for Nephrotic Syndrome:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAT1 NM_005245.4(FAT1):c.857A>G (p.Asn286Ser)SNV Likely pathogenic 684628 4:187630125-187630125 4:186708971-186708971
2 FAT1 NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val)SNV Likely pathogenic 684629 4:187627974-187627974 4:186706820-186706820
3 FAT1 NM_005245.4(FAT1):c.4517G>A (p.Arg1506His)SNV Likely pathogenic 684630 4:187549724-187549724 4:186628570-186628570
4 FAT1 NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr)SNV Likely pathogenic 684632 4:187542069-187542069 4:186620915-186620915
5 FAT1 NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly)SNV Likely pathogenic 684631 4:187534467-187534467 4:186613313-186613313
6 PLCE1 NM_016341.4(PLCE1):c.-226deldeletion Uncertain significance 301673 rs886047492 10:95790577-95790577 10:94030820-94030820
7 LAMB2 NM_002292.3(LAMB2):c.-279A>TSNV Uncertain significance 346020 rs886058682 3:49170579-49170579 3:49133146-49133146
8 LAMB2 NM_002292.4(LAMB2):c.4489A>G (p.Lys1497Glu)SNV Uncertain significance 345977 rs771769006 3:49160221-49160221 3:49122788-49122788
9 FAT1 NM_005245.4(FAT1):c.10481A>G (p.Gln3494Arg)SNV Uncertain significance 870376 4:187525598-187525598 4:186604444-186604444
10 PLCE1 NM_016341.4(PLCE1):c.-616_-615dupduplication Uncertain significance 301665 rs554480714 10:95753763-95753764 10:93994006-93994007
11 LAMB2 NM_002292.4(LAMB2):c.2884+15deldeletion Uncertain significance 345995 rs769133638 3:49162424-49162424 3:49124991-49124991
12 LAMB2 NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys)SNV Uncertain significance 345989 rs143284092 3:49161923-49161923 3:49124490-49124490
13 LAMB2 NM_002292.3(LAMB2):c.-241T>CSNV Uncertain significance 346018 rs886058680 3:49170541-49170541 3:49133108-49133108
14 LAMB2 NM_002292.3(LAMB2):c.-252T>CSNV Uncertain significance 346019 rs886058681 3:49170552-49170552 3:49133119-49133119
15 LAMB2 NM_002292.3(LAMB2):c.-200C>TSNV Uncertain significance 346017 rs886058679 3:49170500-49170500 3:49133067-49133067
16 LAMB2 NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser)SNV Uncertain significance 345987 rs199570781 3:49161692-49161692 3:49124259-49124259
17 TRPC6 NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)SNV Uncertain significance 222850 rs869025541 11:101375177-101375177 11:101504446-101504446
18 LAMA5 NM_005560.5(LAMA5):c.2239C>T (p.Arg747Trp)SNV Uncertain significance 684685 20:60911480-60911480 20:62336424-62336424
19 LAMA5 NM_005560.5(LAMA5):c.3002A>G (p.Glu1001Gly)SNV Uncertain significance 684686 20:60908639-60908639 20:62333583-62333583
20 LAMA5 NM_005560.5(LAMA5):c.8842G>A (p.Gly2948Ser)SNV Uncertain significance 684687 20:60888257-60888257 20:62313201-62313201
Sources

Expression for Nephrotic Syndrome

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Search GEO for disease gene expression data for Nephrotic Syndrome.
Sources

Pathways for Nephrotic Syndrome

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Pathways related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Glycosaminoglycan metabolism 65
Show member pathways
 12.64 NUP93 NUP205 NUP160 NUP133 NUP107
2
Influenza Viral RNA Transcription and Replication 65
Show member pathways
 12.52 NUP93 NUP205 NUP160 NUP133 NUP107
3
Mitotic Prophase 65
Show member pathways
 12.48 NUP93 NUP205 NUP160 NUP133 NUP107
4
SUMOylation 65
Show member pathways
 12.36 NUP93 NUP205 NUP160 NUP133 NUP107
5
Interferon gamma signaling 65
Show member pathways
 12.29 NUP93 NUP205 NUP160 NUP133 NUP107
6
tRNA processing 65
Show member pathways
 12.14 NUP93 NUP205 NUP160 NUP133 NUP107
7
RNA transport 36
11.97 NUP93 NUP205 NUP160 NUP133 NUP107
8
Cellular response to heat stress 65
Show member pathways
 11.89 NUP93 NUP205 NUP160 NUP133 NUP107
9
Transport of Mature Transcript to Cytoplasm 65
Show member pathways
 11.77 NUP93 NUP205 NUP160 NUP133 NUP107
10
Hexose transport 65
Show member pathways
 11.35 NUP93 NUP205 NUP160 NUP133 NUP107
11
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.04 WT1 PTPRO PLCE1 NPHS2 NPHS1 LAMB2
12
Nephrin interactions 65
10.85 NPHS1 MAGI2
Sources

GO Terms for Nephrotic Syndrome

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Cellular components related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 SGPL1 PTPRO PLCE1 NUP93 NUP205 NUP133
2 nuclear envelope GO:0005635 9.77 NUP93 NUP205 NUP160 NUP133 NUP107
3 nuclear membrane GO:0031965 9.71 NUP93 NUP205 NUP133 NUP107
4 kinetochore GO:0000776 9.65 NUP160 NUP133 NUP107
5 nuclear periphery GO:0034399 9.5 NUP93 NUP205 NUP107
6 extrinsic component of mitochondrial inner membrane GO:0031314 9.43 COQ8B COQ6
7 nuclear pore outer ring GO:0031080 9.43 NUP160 NUP133 NUP107
8 nuclear pore GO:0005643 9.35 NUP93 NUP205 NUP160 NUP133 NUP107
9 slit diaphragm GO:0036057 9.33 NPHS2 NPHS1 MAGI2
10 host cell GO:0043657 9.02 NUP93 NUP205 NUP160 NUP133 NUP107

Biological processes related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10 NUP93 NUP205 NUP160 NUP133 NUP107
2 viral process GO:0016032 9.99 NUP93 NUP205 NUP160 NUP133 NUP107
3 mRNA transport GO:0051028 9.88 NUP93 NUP205 NUP160 NUP133 NUP107
4 viral transcription GO:0019083 9.85 NUP93 NUP205 NUP160 NUP133 NUP107
5 mRNA export from nucleus GO:0006406 9.83 NUP93 NUP205 NUP160 NUP133 NUP107
6 regulation of gene silencing by miRNA GO:0060964 9.8 NUP93 NUP205 NUP160 NUP133 NUP107
7 regulation of cellular response to heat GO:1900034 9.77 NUP93 NUP205 NUP160 NUP133 NUP107
8 protein import into nucleus GO:0006606 9.76 NUP93 NUP133 NUP107
9 protein sumoylation GO:0016925 9.72 NUP93 NUP205 NUP160 NUP133 NUP107
10 nuclear pore complex assembly GO:0051292 9.69 NUP93 NUP205 NUP107
11 glomerulus development GO:0032835 9.67 WT1 PTPRO PLCE1
12 intracellular transport of virus GO:0075733 9.65 NUP93 NUP205 NUP160 NUP133 NUP107
13 female gonad development GO:0008585 9.61 SGPL1 NUP107
14 ubiquinone biosynthetic process GO:0006744 9.6 COQ8B COQ6
15 glomerular visceral epithelial cell development GO:0072015 9.58 NPHS1 MAGI2
16 glomerular basement membrane development GO:0032836 9.57 WT1 NPHS1
17 nuclear pore organization GO:0006999 9.56 NUP205 NUP133
18 glomerular visceral epithelial cell differentiation GO:0072112 9.55 WT1 PTPRO
19 regulation of glomerular filtration GO:0003093 9.54 PTPRO EMP2
20 metanephric glomerular visceral epithelial cell development GO:0072249 9.52 NPHS2 LAMB2
21 nephron development GO:0072006 9.46 NUP160 NUP133 NUP107 ITGA3
22 regulation of glycolytic process GO:0006110 9.35 NUP93 NUP205 NUP160 NUP133 NUP107
23 tRNA export from nucleus GO:0006409 9.02 NUP93 NUP205 NUP160 NUP133 NUP107

Molecular functions related to Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 WT1 TBC1D8B SGPL1 PTPRO PLCE1 NUP93
2 structural constituent of nuclear pore GO:0017056 9.02 NUP93 NUP205 NUP160 NUP133 NUP107
Sources

Sources for Nephrotic Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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