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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 44 15 39 17 71 32
Finnish Congenital Nephrotic Syndrome 71

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases Endocrine diseases Blood 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 44 D009404
NCIt 50 C34845
SNOMED-CT 67 155851004
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 2 and nephrotic syndrome, type 1, 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 SUMOylation and Interferon gamma signaling. The drugs Entecavir and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and endothelial, 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
Nephrotic Syndrome, Type 22 Nephrotic Syndrome, Type 23
Familial Nephrotic Syndrome

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

(show top 50) (show all 1273)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 2 33.2 WT1 PLCE1 NPHS2 NPHS1
2 nephrotic syndrome, type 1 33.0 WT1 NPHS2 NPHS1 FAT1
3 nephrotic syndrome, type 10 33.0 NPHS2 NPHS1 EMP2
4 congenital nephrotic syndrome finnish type 32.9 NPHS1 FAT1
5 pierson syndrome 32.8 WT1 PLCE1 NPHS2 NPHS1 LAMB2
6 coenzyme q10 deficiency, primary, 6 32.7 COQ8B COQ6
7 genetic nephrotic syndrome 32.5 WT1 NPHS2 NPHS1
8 membranous nephropathy 32.5 WT1 NPHS2 NPHS1
9 familial nephrotic syndrome 32.5 WT1 PTPRO PLCE1 NPHS2 NPHS1 MYO1E
10 hypoparathyroidism, sensorineural deafness, and renal disease 32.4 NPHS2 NPHS1 LAMB2
11 schimke immunoosseous dysplasia 32.3 NUP93 NUP205 NPHS2
12 focal segmental glomerulosclerosis 2 32.3 NPHS2 NPHS1 LAMB2
13 focal segmental glomerulosclerosis 6 32.2 MYO1E LAMB2
14 frasier syndrome 32.2 WT1 PLCE1 NUP93 NUP107 NPHS2 NPHS1
15 coenzyme q10 deficiency disease 32.2 COQ8B COQ6
16 focal segmental glomerulosclerosis 7 32.2 LAMB2 EMP2 COQ8B
17 focal segmental glomerulosclerosis 5 32.2 LAMB2 COQ8B
18 denys-drash syndrome 32.2 WT1 PLCE1 NUP107 NPHS2 NPHS1
19 galloway-mowat syndrome 32.0 PTPRO PLCE1 NUP93 NUP205 NUP133 NUP107
20 diffuse mesangial sclerosis 32.0 WT1 PLCE1 NPHS2 NPHS1 LAMB2 ARHGDIA
21 coenzyme q10 deficiency, primary, 3 31.9 COQ8B COQ6
22 genetic steroid-resistant nephrotic syndrome 31.7 WT1 TBC1D8B PTPRO PLCE1 NUP93 NUP205
23 focal segmental glomerulosclerosis 1 31.6 PTPRO PLCE1 NUP93 NUP107 NPHS2 NPHS1
24 focal segmental glomerulosclerosis 31.3 WT1 PTPRO PLCE1 NUP93 NUP205 NUP107
25 focal segmental glomerulosclerosis 9 31.1 LAMB2 EMP2 COQ8B
26 congenital syphilis 31.1 PLCE1 NPHS2 NPHS1
27 focal segmental glomerulosclerosis 8 31.0 LAMB2 EMP2 COQ8B
28 crescentic glomerulonephritis 30.8 WT1 PTPRO NPHS2
29 nail-patella syndrome 30.7 WT1 PLCE1 NPHS2 NPHS1
30 alport syndrome 30.4 PTPRO PLCE1 NPHS2 NPHS1 MYO1E LAMB2
31 acute proliferative glomerulonephritis 30.4 NPHS2 NPHS1
32 nephrotic syndrome, type 3 11.7
33 nephrotic syndrome, type 4 11.7
34 nephrotic syndrome, type 7 11.7
35 lipoid nephrosis 11.7
36 nephrotic syndrome, type 5, with or without ocular abnormalities 11.7
37 nephrotic syndrome, type 6 11.7
38 nephrotic syndrome, type 14 11.7
39 nephrotic syndrome, type 13 11.6
40 nephrotic syndrome, type 20 11.6
41 nephrotic syndrome, type 9 11.6
42 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.6
43 nephrotic syndrome, type 12 11.6
44 nephrotic syndrome, type 8 11.6
45 nephrotic syndrome, type 15 11.6
46 nephrotic syndrome, type 11 11.6
47 nephrotic syndrome, type 17 11.6
48 nephrotic syndrome, type 16 11.6
49 nephrotic syndrome, type 18 11.6
50 nephrotic syndrome, type 21 11.5

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 9.43 TBC1D8B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.43 WT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.43 TBC1D8B WT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.43 NUP93
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 9.43 TBC1D8B
6 Increased gamma-H2AX phosphorylation GR00053-A 9.23 FAT1 KANK2 MYO1E NPHS1 NUP107 NUP133

MGI Mouse Phenotypes related to Nephrotic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 ARHGDIA COQ6 EMP2 FAT1 ITGA3 MYO1E
2 homeostasis/metabolism MP:0005376 9.97 ARHGDIA COQ6 COQ8B FAT1 ITGA3 LAMB2
3 mortality/aging MP:0010768 9.77 ARHGDIA COQ6 COQ8B FAT1 ITGA3 LAMB2
4 renal/urinary system MP:0005367 9.4 ARHGDIA COQ6 COQ8B FAT1 ITGA3 LAMB2
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 149)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Mycophenolic acid Approved Phase 4 24280-93-1 446541
3
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
4
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
5
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
12
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
13
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
15
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
16
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
17
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
18 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
19 Vaccines Phase 4
20 Antihypertensive Agents Phase 4
21 Mitogens Phase 4
22 Protective Agents Phase 4
23 Gastrointestinal Agents Phase 4
24 Neuroprotective Agents Phase 4
25 Anti-Infective Agents Phase 4
26 Antiemetics Phase 4
27 Immunoglobulin A Phase 4
28 Anti-Bacterial Agents Phase 4
29 Antibiotics, Antitubercular Phase 4
30 Antitubercular Agents Phase 4
31 Neurotransmitter Agents Phase 4
32 Endorphins Phase 4
33 diuretics Phase 4
34 Sodium Potassium Chloride Symporter Inhibitors Phase 4
35 Anticonvulsants Phase 4
36 Sodium Chloride Symporter Inhibitors Phase 4
37 Carbonic Anhydrase Inhibitors Phase 4
38 retinol Phase 4
39 Retinol palmitate Phase 4
40 Calcium, Dietary Phase 4
41 Anti-Inflammatory Agents Phase 4
42 Immunosuppressive Agents Phase 4
43 glucocorticoids Phase 4
44 Antineoplastic Agents, Hormonal Phase 4
45 Methylprednisolone Acetate Phase 4
46 Calcineurin Inhibitors Phase 4
47 Nutrients Phase 4
48 Micronutrients Phase 4
49 Trace Elements Phase 4
50 Vitamins Phase 4

Interventional clinical trials:

(show top 50) (show all 122)
# Name Status NCT ID Phase Drugs
1 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
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 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
5 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
6 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
7 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4 Methylprednisolone pulses plus prednisone versus Cyclosporine A
8 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
9 Population Pharmacokinetics of Tacrolimus in Children With Nephrotic Syndrome Completed NCT03347357 Phase 4 Tacrolimus
10 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
11 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
12 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
13 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
14 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
15 Myfortic® Combined With Low-dose Steroid in Minimal Change Nephrotic Syndrome Completed NCT01185197 Phase 4 Myfortic plus low-dose steroid;Prednisolone
16 "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
17 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)
18 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
19 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
20 Treatment of Primary Minimal Change Nephropathy: A Randomized Open-labeled Non-inferiority Study on Prednisolone and Vitamin D Recruiting NCT03210688 Phase 4 Prednisolone;Alfacalcidol
21 A Multinational Prospective Study on the Duration of Steroid Therapy in Steroid Sensitive Nephrotic Syndrome Active, not recruiting NCT03878914 Phase 4 Corticosteroids
22 ADRENL - ACTHAR Gel for Drug REsistant Nephrotic Syndrome in Children, Pilot Study Withdrawn NCT03408405 Phase 4 Acthar Gel 80 UNT/ML Injectable Solution
23 A Multicenter, Randomised, Double-blind Placebo-controlled Trial Assessing the Efficiency of Levamisole for Maintaining Remission After the First Flare of Steroid Sensitive Nephrotic Syndrome in Children. Unknown status NCT02818738 Phase 3 Levamisole Hydrochloride
24 A Multi-center Randomized Controlled Trial of Rituximab for Refractory Nephrotic Syndrome in Children Unknown status NCT01716442 Phase 2, Phase 3 Rituximab;Placebo
25 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
26 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
27 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)
28 The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) Completed NCT01309477 Phase 3 Tacrolimus Sustained-release Capsules (ADVAGRAF)
29 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome Completed NCT02132195 Phase 3 ACTH
30 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
31 Clinical Efficacy of Pentoxifylline on Patients With Primary Nephrotic Syndrome Completed NCT00354731 Phase 3 pentoxifylline;Corticosteroid
32 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)
33 A Prospective, Sequential Study to Assess the Efficacy of Rituximab Therapy in Maintaining Remission of Nephrotic Syndrome After Steroid and Immunosuppressive Therapy Withdrawal in Patients With Steroid-dependant or Multirelapsing Minimal Change Disease or Focal Segmental Glomerulosclerosis (NEMO Study) Completed NCT00981838 Phase 3 Rituximab
34 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3 Tacrolimus;Rituximab
35 Rituximab in Patients With Low Dose Steroid-dependent Idiopathic Nephrotic Syndrome Completed NCT04494438 Phase 3 Rituximab
36 Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS) Completed NCT00615667 Phase 3 tacrolimus (FK506)
37 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
38 A Phase II/III Study of the Safety and Efficacy of NC-503 in Patients Suffering From Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
39 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Unresponsive to 8 Weeks of High Dose Prednisone Recruiting NCT03298698 Phase 3 Rituximab;Prednisone
40 Efficacy and Safety of Immunoglobulin Associated With Rituximab Versus Rituximab Alone in Childhood-Onset Steroid-dependent Nephrotic Syndrome Recruiting NCT03560011 Phase 2, Phase 3 immunoglobulin IV
41 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
42 Randomized Clinical Trial to Compare Efficacy and Safety of Repeated Courses of Rituximab to That of Maintenance Mycophenolate Mofetil Following Single Course of Rituximab in Maintaining Remission Over 24 Months Among Children With Steroid Dependent Nephrotic Syndrome Recruiting NCT03899103 Phase 3 Rituximab;Mycophenolate Mofetil
43 Randomized, Multicentric, Open Label, Parallel Group Trial to Compare the Efficacy of 6-months Versus 3-months Therapy With Prednisolone for the First Episode of Idiopathic Nephrotic Syndrome in Children Younger Than 4 Years Active, not recruiting NCT03141970 Phase 3 Prednisolone
44 Assessment of Coagulation Disorders and of Enoxaparin's Anti-Xa Activity, When Used for Thromboprophylaxis, in Severe Nephrotic Syndrome. Terminated NCT04558892 Phase 2, Phase 3 Enoxaparin
45 Randomized Trial Comparing Rituximab Against Mycophenolate Mofetil in Children Wtih Refractory Nephrotic Syndrome (RAMP) Terminated NCT02390362 Phase 3 Rituximab;MMF
46 Comparative Study of 3 or 6 Months Initial Steroid Treatment in Children Under 6 Years of Age With Steroid Sensitive Nephrotic Syndrome：a Randomized, Double-blind, Placebo-controlled Study Withdrawn NCT04536181 Phase 3 Prednisolone;Placebo
47 Efficacy and Safety of Mycophenolate Mofetil as Maintenance Therapy After Rituximab Treatment in Childhood-onset, Frequently-relapsing or Steroid-dependent Nephrotic Syndrome: a Multicenter Double-blind, Randomized, Placebo-controlled Trial Withdrawn NCT04531865 Phase 3 Rituximab;Mycophenolate Mofetil;Placebo tablets matching Mycophenolate Mofetil
48 Study of Losmapimod to Reduce Proteinuria in Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
49 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Adaptive Design Pilot Safety and Efficacy Study of H.P. Acthar Gel (Acthar) in Patients With Diabetic Nephropathy and Proteinuria. Completed NCT01601236 Phase 2 Repository Corticotropin Injection;Placebo
50 Temozolomide Plus Bevacizumab Chemotherapy in Supratentorial Glioblastoma in 70 Years and Older Patients With an Impaired Functional Status (KPS<70) Completed NCT02898012 Phase 2 Temozolomide;Bevacizumab

Search NIH Clinical Center for Nephrotic Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

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MalaCards organs/tissues related to Nephrotic Syndrome:

40
Kidney, Thyroid, Endothelial, Skin, Bone Marrow, Pituitary, T Cells
Sources

Publications for Nephrotic Syndrome

About this section

Articles related to Nephrotic Syndrome:

(show top 50) (show all 18449)
# Title Authors PMID Year
1
Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations. 61 54
20191369 2010
2
Non-immunologic mechanisms of calcineurin inhibitors explain its antiproteinuric effects in genetic glomerulopathies. 54 61
20195644 2010
3
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 61 54
20497763 2010
4
Effect of angiotensin-converting enzyme gene insertion/deletion polymorphism on steroid resistance in Egyptian children with idiopathic nephrotic syndrome. 54 61
20418353 2010
5
Changes in glomerular mesangium in kidneys with congenital nephrotic syndrome of the Finnish type. 54 61
20020158 2010
6
c-mip impairs podocyte proximal signaling and induces heavy proteinuria. 61 54
20484117 2010
7
Genetic kidney diseases. 54 61
20382325 2010
8
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. 61 54
19956976 2010
9
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. 54 61
20441703 2010
10
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 54 61
19812541 2009
11
Use of recombinant human serum albumin in pediatric patients with nephrotic syndrome. 61 54
19475428 2009
12
Nephrotic syndrome in diabetic kidney disease: an evaluation and update of the definition. 54 61
19556043 2009
13
Idiopathic nephrotic syndrome and atopy: is there a common link? 54 61
19556042 2009
14
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. 54 61
19495806 2009
15
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains. 54 61
19443487 2009
16
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 54 61
19321760 2009
17
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 61 54
19131354 2009
18
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 54 61
19406966 2009
19
Mesothelioma of the testis and nephrotic syndrome: a case report. 61 54
19830148 2009
20
Association of polymorphisms at restriction enzyme recognition sites of apolipoprotein B and E gene with dyslipidemia in children undergoing primary nephrotic syndrome. 54 61
18512131 2009
21
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 61 54
19127206 2009
22
ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor. 61 54
19404519 2009
23
[Resistance to curative treatment by unfractionned heparin]. 61 54
18814940 2009
24
Randomized cross-over trial comparing albumin and frusemide infusions in nephrotic syndrome. 61 54
19142668 2009
25
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. 54 61
19282856 2009
26
NPHS2 mutations in children with steroid-resistant nephrotic syndrome. 54 61
19395786 2009
27
Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses. 61 54
19153070 2009
28
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 54 61
19145239 2009
29
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. 54 61
19371226 2009
30
Paraneoplastic glomerular diseases and malignancies. 54 61
18790651 2009
31
Atherosclerosis risk factors in young patients formerly treated for idiopathic nephrotic syndrome. 61 54
18972136 2009
32
[Genetic variations of NPHS2 and WT1 genes in 15 Chinese children with sporadic steroid-resistant nephrotic syndrome]. 61 54
19573440 2009
33
A case of membranous nephropathy associated with chronic sinusitis. 54 61
19384848 2009
34
Effects of uroguanylin on natriuresis in experimental nephrotic rats. 61 54
19054333 2009
35
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. 54 61
19341173 2009
36
A new link between steroid resistance, glucocorticoid receptor and nuclear factor kappa B p65 in idiopathic nephrotic syndrome. 54 61
20035271 2009
37
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 54 61
19194555 2009
38
The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm. 61 54
18971929 2009
39
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. 54 61
19562271 2009
40
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 61 54
20001346 2009
41
[Immunosuppressive treatment of idiopathic membranous glomerulonephritis with nephrotic syndrome]. 61 54
20088170 2009
42
Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation. 61 54
19067903 2008
43
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
44
[Successful treatment of early intervention with tacrolimus for a patient with lupus nephritis III+V]. 61 54
19122377 2008
45
[The histological picture of CRF in kidney grafts]. 54 61
19048584 2008
46
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 61 54
18503012 2008
47
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
48
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 61 54
18614772 2008
49
[Clinical characteristics and WT1 genetic analysis of patients with steroid-resistant nephrotic syndrome accompanied with genitourinary malformations]. 61 54
19099861 2008
50
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. 61 54
18543005 2008
Sources

Variations for Nephrotic Syndrome

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ClinVar genetic disease variations for Nephrotic Syndrome:

6 (show all 26)
# 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 rs201488687 4:187630125-187630125 4:186708971-186708971
2 FAT1 NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val) SNV Likely pathogenic 684629 rs369363545 4:187627974-187627974 4:186706820-186706820
3 FAT1 NM_005245.4(FAT1):c.4517G>A (p.Arg1506His) SNV Likely pathogenic 684630 rs570583897 4:187549724-187549724 4:186628570-186628570
4 FAT1 NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly) SNV Likely pathogenic 684631 rs375998390 4:187534467-187534467 4:186613313-186613313
5 FAT1 NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr) SNV Likely pathogenic 684632 rs185078412 4:187542069-187542069 4:186620915-186620915
6 LAMA5 NM_005560.5(LAMA5):c.2239C>T (p.Arg747Trp) SNV Uncertain significance 684685 rs370940497 20:60911480-60911480 20:62336424-62336424
7 LAMA5 NM_005560.5(LAMA5):c.3002A>G (p.Glu1001Gly) SNV Uncertain significance 684686 rs1601356283 20:60908639-60908639 20:62333583-62333583
8 LAMA5 NM_005560.5(LAMA5):c.8842G>A (p.Gly2948Ser) SNV Uncertain significance 684687 rs529211517 20:60888257-60888257 20:62313201-62313201
9 FAT1 NM_005245.4(FAT1):c.10481A>G (p.Gln3494Arg) SNV Uncertain significance 870376 4:187525598-187525598 4:186604444-186604444
10 MYH9 NM_002473.6(MYH9):c.3964C>T (p.Arg1322Trp) SNV Uncertain significance 930194 22:36689506-36689506 22:36293460-36293460
11 MYH9 NM_002473.6(MYH9):c.4358A>G (p.Glu1453Gly) SNV Uncertain significance 930195 22:36685330-36685330 22:36289284-36289284
12 MYO1E NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val) SNV Uncertain significance 930196 15:59500995-59500995 15:59208796-59208796
13 NPHS1 NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala) SNV Uncertain significance 930198 19:36339230-36339230 19:35848328-35848328
14 TRPC6 NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) SNV Uncertain significance 222850 rs869025541 11:101375177-101375177 11:101504446-101504446
15 PLCE1 NM_016341.4(PLCE1):c.-616_-615dup Duplication Uncertain significance 301665 rs554480714 10:95753763-95753764 10:93994006-93994007
16 LAMB2 NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys) SNV Uncertain significance 345989 rs143284092 3:49161923-49161923 3:49124490-49124490
17 LAMB2 NM_002292.3(LAMB2):c.-252T>C SNV Uncertain significance 346019 rs886058681 3:49170552-49170552 3:49133119-49133119
18 LAMB2 NM_002292.4(LAMB2):c.4489A>G (p.Lys1497Glu) SNV Uncertain significance 345977 rs771769006 3:49160221-49160221 3:49122788-49122788
19 LAMB2 NM_002292.3(LAMB2):c.-241T>C SNV Uncertain significance 346018 rs886058680 3:49170541-49170541 3:49133108-49133108
20 LAMB2 NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) SNV Uncertain significance 345987 rs199570781 3:49161692-49161692 3:49124259-49124259
21 LAMB2 NM_002292.3(LAMB2):c.-200C>T SNV Uncertain significance 346017 rs886058679 3:49170500-49170500 3:49133067-49133067
22 LAMB2 NM_002292.4(LAMB2):c.2884+15del Deletion Uncertain significance 345995 rs769133638 3:49162424-49162424 3:49124991-49124991
23 PLCE1 NM_016341.4(PLCE1):c.-226del Deletion Uncertain significance 301673 rs886047492 10:95790577-95790577 10:94030820-94030820
24 LAMB2 NM_002292.3(LAMB2):c.-279A>T SNV Uncertain significance 346020 rs886058682 3:49170579-49170579 3:49133146-49133146
25 TBC1D8B NM_017752.3(TBC1D8B):c.1316T>G (p.Phe439Cys) SNV Uncertain significance 977139 X:106082650-106082650 X:106839420-106839420
26 NPHS1 NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln) SNV Likely benign 930199 19:36333382-36333382 19:35842480-35842480
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:

# Super pathways Score Top Affiliating Genes
1
SUMOylation 65
Show member pathways
 12.27 NUP93 NUP205 NUP133 NUP107
2
Interferon gamma signaling 65
Show member pathways
 12.2 NUP93 NUP205 NUP133 NUP107
3
tRNA processing 65
Show member pathways
 12.04 NUP93 NUP205 NUP133 NUP107
4
RNA transport 36
11.89 NUP93 NUP205 NUP133 NUP107
5
Cellular response to heat stress 65
Show member pathways
 11.79 NUP93 NUP205 NUP133 NUP107
6
Transport of Mature Transcript to Cytoplasm 65
Show member pathways
 11.67 NUP93 NUP205 NUP133 NUP107
7
Hexose transport 65
Show member pathways
 11.26 NUP93 NUP205 NUP133 NUP107
8
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.15 WT1 PTPRO PLCE1 NPHS2 NPHS1 MYO1E
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 extracellular exosome GO:0070062 10.08 PTPRO NPHS2 NPHS1 MYO1E LAMB2 ITGA3
3 nuclear membrane GO:0031965 9.67 NUP93 NUP205 NUP133 NUP107
4 nuclear envelope GO:0005635 9.56 NUP93 NUP205 NUP133 NUP107
5 nuclear pore GO:0005643 9.46 NUP93 NUP205 NUP133 NUP107
6 extrinsic component of mitochondrial inner membrane GO:0031314 9.43 COQ8B COQ6
7 nuclear pore outer ring GO:0031080 9.4 NUP133 NUP107
8 slit diaphragm GO:0036057 9.32 NPHS2 NPHS1
9 nuclear periphery GO:0034399 9.13 NUP93 NUP205 NUP107
10 host cell GO:0043657 8.92 NUP93 NUP205 NUP133 NUP107

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.02 NPHS1 LAMB2 ITGA3 FAT1 EMP2
2 viral transcription GO:0019083 9.84 NUP93 NUP205 NUP133 NUP107
3 mRNA transport GO:0051028 9.83 NUP93 NUP205 NUP133 NUP107
4 actin filament organization GO:0007015 9.81 MYO1E FAT1 EMP2
5 kidney development GO:0001822 9.8 WT1 SGPL1 MYO1E
6 mRNA export from nucleus GO:0006406 9.8 NUP93 NUP205 NUP133 NUP107
7 regulation of gene silencing by miRNA GO:0060964 9.78 NUP93 NUP205 NUP133 NUP107
8 protein import into nucleus GO:0006606 9.77 NUP93 NUP133 NUP107
9 regulation of cellular response to heat GO:1900034 9.76 NUP93 NUP205 NUP133 NUP107
10 vasculogenesis GO:0001570 9.73 WT1 SGPL1 MYO1E
11 protein sumoylation GO:0016925 9.73 NUP93 NUP205 NUP133 NUP107
12 female gonad development GO:0008585 9.63 SGPL1 NUP107
13 poly(A)+ mRNA export from nucleus GO:0016973 9.63 NUP93 NUP133
14 nitrogen compound metabolic process GO:0006807 9.61 SGPL1 MYO1E
15 ubiquinone biosynthetic process GO:0006744 9.61 COQ8B COQ6
16 glomerular filtration GO:0003094 9.6 TBC1D8B MYO1E
17 glomerular visceral epithelial cell development GO:0072015 9.58 NPHS1 MYO1E
18 glomerular visceral epithelial cell differentiation GO:0072112 9.58 WT1 PTPRO
19 nephron development GO:0072006 9.58 NUP133 NUP107 ITGA3
20 nuclear pore organization GO:0006999 9.57 NUP205 NUP133
21 intracellular transport of virus GO:0075733 9.56 NUP93 NUP205 NUP133 NUP107
22 regulation of glomerular filtration GO:0003093 9.55 PTPRO EMP2
23 nuclear pore complex assembly GO:0051292 9.54 NUP93 NUP205 NUP107
24 metanephric glomerular visceral epithelial cell development GO:0072249 9.51 NPHS2 LAMB2
25 glomerular basement membrane development GO:0032836 9.5 WT1 NPHS1 MYO1E
26 regulation of glycolytic process GO:0006110 9.46 NUP93 NUP205 NUP133 NUP107
27 glomerulus development GO:0032835 9.13 WT1 PTPRO PLCE1
28 tRNA export from nucleus GO:0006409 8.92 NUP93 NUP205 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 9.93 WT1 TBC1D8B SGPL1 PTPRO PLCE1 NUP93
2 structural constituent of nuclear pore GO:0017056 8.92 NUP93 NUP205 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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