MCID: NPH012
MIFTS: 61

Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrotic Syndrome

MalaCards integrated aliases for Nephrotic Syndrome:

Name: Nephrotic Syndrome 12 73 36 29 54 6 44 15 39 17 70 32
Finnish Congenital Nephrotic Syndrome 70

Classifications:



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 70 C0027726 C0403399

Summaries for Nephrotic Syndrome

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 ECM-receptor interaction and Amoebiasis. The drugs Entecavir and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and endothelial, and related phenotypes are homeostasis/metabolism and cardiovascular system

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

Related Diseases for Nephrotic Syndrome

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
Nephrotic Syndrome, Type 24 Familial Nephrotic Syndrome

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

(show top 50) (show all 1309)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 2 33.6 PLCE1 NPHS2 NPHS1 AXDND1
2 nephrotic syndrome, type 1 33.5 WT1 TTC21B-AS1 TTC21B NPHS2 NPHS1 FAT1
3 genetic steroid-resistant nephrotic syndrome 33.5 WT1 TRPC6 PLCE1 PAX2 NUP93 NPHS2
4 lipoid nephrosis 33.4 TRPC6 NPHS2 NPHS1 LMX1B
5 familial nephrotic syndrome 33.3 WT1 TTC21B-AS1 TTC21B TRPC6 PLCE1 NPHS2
6 congenital nephrotic syndrome finnish type 33.3 TTC21B-AS1 TTC21B NPHS1 FAT1
7 galloway-mowat syndrome 33.2 PLCE1 NUP93 NPHS2 NPHS1 LMX1B LAMB2
8 focal segmental glomerulosclerosis 33.2 WT1 TRPC6 PLCE1 PAX2 NUP93 NPHS2
9 pierson syndrome 33.2 WT1 PLCE1 NPHS2 NPHS1 LMX1B LAMB2
10 nephrotic syndrome, type 10 33.2 NPHS2 NPHS1
11 frasier syndrome 33.0 WT1 TRPC6 PLCE1 PAX2 NUP93 NPHS2
12 idiopathic nephrotic syndrome 33.0 NPHS2 AXDND1
13 membranous nephropathy 32.9 WT1 TRPC6 NPHS2 NPHS1
14 focal segmental glomerulosclerosis 1 32.8 TRPC6 PLCE1 NUP93 NPHS2 NPHS1 MYO1E
15 proteinuria, chronic benign 32.8 NPHS2 NPHS1 MFF-DT COL4A5 COL4A4 COL4A3
16 hypoparathyroidism, sensorineural deafness, and renal disease 32.8 NPHS2 NPHS1 LAMB2
17 focal segmental glomerulosclerosis 6 32.7 MYO1E LAMB2 COQ8B
18 denys-drash syndrome 32.7 WT1 TRPC6 PLCE1 PAX2 NPHS2 NPHS1
19 schimke immunoosseous dysplasia 32.7 NUP93 NPHS2 LMX1B
20 focal segmental glomerulosclerosis 2 32.7 TRPC6 NPHS2 NPHS1 LAMB2
21 diffuse mesangial sclerosis 32.6 WT1 PLCE1 PAX2 NPHS2 NPHS1 LAMB2
22 idiopathic steroid-resistant nephrotic syndrome 32.6 WT1 NPHS2 NPHS1
23 focal segmental glomerulosclerosis 7 32.5 PAX2 LAMB2 COQ8B
24 glomerulonephritis 32.5 NPHS2 NPHS1 COL4A5 COL4A4 COL4A3
25 focal segmental glomerulosclerosis 5 32.5 LAMB2 COQ8B
26 kidney disease 32.4 WT1 TTC21B TRPC6 PAX2 NPHS2 NPHS1
27 end stage renal disease 31.9 TRPC6 PAX2 NPHS2 NPHS1 COL4A5 COL4A4
28 chronic kidney disease 31.6 WT1 NPHS2 NPHS1 COL4A5 COL4A4 COL4A3
29 congenital syphilis 31.4 PLCE1 NPHS2 NPHS1
30 focal segmental glomerulosclerosis 9 31.4 LAMB2 COQ8B
31 focal segmental glomerulosclerosis 8 31.3 LAMB2 COQ8B
32 alport syndrome 31.2 TRPC6 NPHS2 NPHS1 MYO1E MFF-DT LMX1B
33 rapidly progressive glomerulonephritis 31.1 NPHS1 COL4A4 COL4A3
34 nail-patella syndrome 31.0 PLCE1 PAX2 NPHS2 NPHS1 LMX1B COL4A4
35 acute proliferative glomerulonephritis 31.0 NPHS2 NPHS1 COL4A3
36 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.8 WT1 NPHS2 NPHS1 LMX1B
37 autosomal recessive alport syndrome 30.6 NPHS2 MFF-DT LMX1B COL4A5 COL4A4 COL4A3
38 goodpasture syndrome 30.5 NPHS1 COL4A5 COL4A4 COL4A3
39 anti-basement membrane glomerulonephritis 30.5 COL4A5 COL4A4 COL4A3
40 cakut 30.5 WT1 PAX2 NPHS1
41 nephronophthisis 30.3 TTC21B-AS1 TTC21B NPHS2 CLCN5
42 alport syndrome 2, autosomal recessive 29.7 MFF-DT COL4A4 COL4A3
43 nephrotic syndrome, type 3 11.7
44 nephrotic syndrome, type 7 11.7
45 nephrotic syndrome, type 4 11.7
46 nephrotic syndrome, type 5, with or without ocular abnormalities 11.7
47 nephrotic syndrome, type 6 11.7
48 nephrotic syndrome, type 14 11.7
49 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.6
50 nephrotic syndrome, type 13 11.6

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



Diseases related to Nephrotic Syndrome

Symptoms & Phenotypes for Nephrotic Syndrome

UMLS symptoms related to Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Nephrotic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 CLCN5 COL4A3 COL4A4 COL4A5 COQ8B FAT1
2 cardiovascular system MP:0005385 9.96 COL4A3 COL4A5 FAT1 LMX1B MYO1E NPHS2
3 mortality/aging MP:0010768 9.77 COL4A3 COL4A4 COL4A5 COQ8B FAT1 LAMB2
4 renal/urinary system MP:0005367 9.47 CLCN5 COL4A3 COL4A4 COL4A5 COQ8B FAT1

Drugs & Therapeutics for Nephrotic Syndrome

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

(show top 50) (show all 155)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
3
Mycophenolic acid Approved Phase 4 24280-93-1 446541
4
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
5
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
6
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
12
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
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 Vaccines Phase 4
19 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
20 Antihypertensive Agents Phase 4
21 Immunoglobulin A Phase 4
22 Gastrointestinal Agents Phase 4
23 Anti-Bacterial Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Mitogens Phase 4
26 Immunosuppressive Agents Phase 4
27 Antiemetics Phase 4
28 Neuroprotective Agents Phase 4
29 Protective Agents Phase 4
30 Calcineurin Inhibitors Phase 4
31 Antibiotics, Antitubercular Phase 4
32 Antitubercular Agents Phase 4
33 Sodium Potassium Chloride Symporter Inhibitors Phase 4
34 Sodium Chloride Symporter Inhibitors Phase 4
35 Anticonvulsants Phase 4
36 Carbonic Anhydrase Inhibitors Phase 4
37 Neurotransmitter Agents Phase 4
38 Endorphins Phase 4
39 Retinol palmitate Phase 4
40 retinol Phase 4
41 Calcium, Dietary Phase 4
42 Methylprednisolone Acetate Phase 4
43 glucocorticoids Phase 4
44 Antineoplastic Agents, Hormonal Phase 4
45 Anti-Inflammatory Agents Phase 4
46 Micronutrients Phase 4
47 Trace Elements Phase 4
48 Nutrients Phase 4
49 Vitamins Phase 4
50 Calciferol Phase 4

Interventional clinical trials:

(show top 50) (show all 125)
# 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 Adjusted Steroid Therapy in Children With Idiopathic Nephrotic Syndrome Unknown status NCT02649413 Phase 4 Prednisone
3 Study of Safety, Immunogenicity and Immunological Memory of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
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 Population Pharmacokinetics of Tacrolimus in Children With Nephrotic Syndrome Completed NCT03347357 Phase 4 Tacrolimus
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 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
11 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
12 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
13 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
14 Myfortic® Combined With Low-dose Steroid in Minimal Change Nephrotic Syndrome Completed NCT01185197 Phase 4 Myfortic plus low-dose steroid;Prednisolone
15 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
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 Multi-center Randomized Controlled Trial of Rituximab for Refractory Nephrotic Syndrome in Children Unknown status NCT01716442 Phase 2, Phase 3 Rituximab;Placebo
24 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
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 The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) Completed NCT01309477 Phase 3 Tacrolimus Sustained-release Capsules (ADVAGRAF)
27 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
28 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3 Tacrolimus;Rituximab
29 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)
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 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)
32 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
33 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome Completed NCT02132195 Phase 3 ACTH
34 Clinical Efficacy of Pentoxifylline on Patients With Primary Nephrotic Syndrome Completed NCT00354731 Phase 3 pentoxifylline;Corticosteroid
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 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
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 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
42 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
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 Randomized Trial Comparing Rituximab Against Mycophenolate Mofetil in Children Wtih Refractory Nephrotic Syndrome (RAMP) Terminated NCT02390362 Phase 3 Rituximab;MMF
45 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
46 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
47 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
48 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
49 Study of Losmapimod to Reduce Proteinuria in Idiopathic Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
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 70 / 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

Genetic Tests for Nephrotic Syndrome

Genetic tests related to Nephrotic Syndrome:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome 29

Anatomical Context for Nephrotic Syndrome

MalaCards organs/tissues related to Nephrotic Syndrome:

40
Kidney, Thyroid, Endothelial, Skin, Liver, Bone, Lung

Publications for Nephrotic Syndrome

Articles related to Nephrotic Syndrome:

(show top 50) (show all 18581)
# Title Authors PMID Year
1
FAT1 mutations cause a glomerulotubular nephropathy. 6 61
26905694 2016
2
Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations. 54 61
20191369 2010
3
Non-immunologic mechanisms of calcineurin inhibitors explain its antiproteinuric effects in genetic glomerulopathies. 61 54
20195644 2010
4
Effect of angiotensin-converting enzyme gene insertion/deletion polymorphism on steroid resistance in Egyptian children with idiopathic nephrotic syndrome. 61 54
20418353 2010
5
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. 54 61
20497763 2010
6
Changes in glomerular mesangium in kidneys with congenital nephrotic syndrome of the Finnish type. 54 61
20020158 2010
7
c-mip impairs podocyte proximal signaling and induces heavy proteinuria. 61 54
20484117 2010
8
Genetic kidney diseases. 61 54
20382325 2010
9
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. 61 54
19956976 2010
10
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. 61 54
20441703 2010
11
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 61 54
19812541 2009
12
Use of recombinant human serum albumin in pediatric patients with nephrotic syndrome. 61 54
19475428 2009
13
Idiopathic nephrotic syndrome and atopy: is there a common link? 61 54
19556042 2009
14
Nephrotic syndrome in diabetic kidney disease: an evaluation and update of the definition. 54 61
19556043 2009
15
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. 61 54
19495806 2009
16
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 54 61
19321760 2009
17
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains. 54 61
19443487 2009
18
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 54 61
19406966 2009
19
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 54 61
19131354 2009
20
Mesothelioma of the testis and nephrotic syndrome: a case report. 54 61
19830148 2009
21
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
22
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 54 61
19127206 2009
23
ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor. 54 61
19404519 2009
24
Paraneoplastic glomerular diseases and malignancies. 54 61
18790651 2009
25
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. 61 54
19282856 2009
26
[Resistance to curative treatment by unfractionned heparin]. 54 61
18814940 2009
27
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. 61 54
19371226 2009
28
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 61 54
19145239 2009
29
NPHS2 mutations in children with steroid-resistant nephrotic syndrome. 61 54
19395786 2009
30
Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses. 61 54
19153070 2009
31
Randomized cross-over trial comparing albumin and frusemide infusions in nephrotic syndrome. 61 54
19142668 2009
32
Atherosclerosis risk factors in young patients formerly treated for idiopathic nephrotic syndrome. 61 54
18972136 2009
33
[Genetic variations of NPHS2 and WT1 genes in 15 Chinese children with sporadic steroid-resistant nephrotic syndrome]. 54 61
19573440 2009
34
A case of membranous nephropathy associated with chronic sinusitis. 54 61
19384848 2009
35
Effects of uroguanylin on natriuresis in experimental nephrotic rats. 61 54
19054333 2009
36
[Immunosuppressive treatment of idiopathic membranous glomerulonephritis with nephrotic syndrome]. 61 54
20088170 2009
37
A new link between steroid resistance, glucocorticoid receptor and nuclear factor kappa B p65 in idiopathic nephrotic syndrome. 54 61
20035271 2009
38
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 54 61
20001346 2009
39
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 61 54
19194555 2009
40
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
41
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. 61 54
19562271 2009
42
The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm. 61 54
18971929 2009
43
Relationship between plasma leptin or soluble cleaved leptin-receptor concentrations and glucocorticoid sensitivity of peripheral blood mononuclear cells in patients with nephrotic syndrome. 54 61
18700169 2008
44
Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation. 54 61
19067903 2008
45
[Successful treatment of early intervention with tacrolimus for a patient with lupus nephritis III+V]. 61 54
19122377 2008
46
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 61 54
18503012 2008
47
[The histological picture of CRF in kidney grafts]. 54 61
19048584 2008
48
The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. 54 61
18499321 2008
49
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 54 61
18614772 2008
50
[Clinical characteristics and WT1 genetic analysis of patients with steroid-resistant nephrotic syndrome accompanied with genitourinary malformations]. 54 61
19099861 2008

Variations for Nephrotic Syndrome

ClinVar genetic disease variations for Nephrotic Syndrome:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2621del (p.Gly874fs) Deletion Pathogenic 870355 GRCh37: 2:228147212-228147212
GRCh38: 2:227282496-227282496
2 NPHS1 NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) SNV Pathogenic 56481 rs386833920 GRCh37: 19:36333093-36333093
GRCh38: 19:35842191-35842191
3 NPHS2 NM_014625.3(NPHS2):c.503G>A (p.Arg168His) SNV Pathogenic 188730 rs530318579 GRCh37: 1:179528845-179528845
GRCh38: 1:179559710-179559710
4 LAMB2 NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter) SNV Pathogenic 974626 GRCh37: 3:49160191-49160191
GRCh38: 3:49122758-49122758
5 LMX1B NM_001174146.2(LMX1B):c.737G>A SNV Pathogenic 498798 rs1191455921 GRCh37: 9:129455598-129455598
GRCh38: 9:126693319-126693319
6 TRPC6 NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) SNV Pathogenic 6155 rs121434394 GRCh37: 11:101323799-101323799
GRCh38: 11:101453068-101453068
7 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
8 COL4A5 NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu) SNV Pathogenic 988185 GRCh37: X:107850114-107850114
GRCh38: X:108606884-108606884
9 CLCN5 NM_001127898.4(CLCN5):c.604-2A>G SNV Pathogenic 988248 GRCh37: X:49845249-49845249
GRCh38: X:50080592-50080592
10 NPHS1 NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser) SNV Pathogenic 988266 GRCh37: 19:36335086-36335086
GRCh38: 19:35844184-35844184
11 NPHS2 NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) SNV Pathogenic 5360 rs74315342 GRCh37: 1:179530462-179530462
GRCh38: 1:179561327-179561327
12 NPHS1 NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) SNV Pathogenic 56469 rs386833909 GRCh37: 19:36334481-36334481
GRCh38: 19:35843579-35843579
13 NPHS1 NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) SNV Pathogenic 6873 rs267606919 GRCh37: 19:36321958-36321958
GRCh38: 19:35831056-35831056
14 NPHS1 NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) Duplication Pathogenic 56497 rs386833935 GRCh37: 19:36322580-36322581
GRCh38: 19:35831678-35831679
15 NPHS1 NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) SNV Pathogenic 188761 rs138656762 GRCh37: 19:36330320-36330320
GRCh38: 19:35839418-35839418
16 NUP93 NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) SNV Likely pathogenic 224968 rs145146218 GRCh37: 16:56865830-56865830
GRCh38: 16:56831918-56831918
17 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3077G>A SNV Likely pathogenic 370718 rs199506378 GRCh37: 1:179520570-179520570
GRCh38: 1:179551435-179551435
18 CLCN5 NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) SNV Likely pathogenic 988249 GRCh37: X:49846442-49846442
GRCh38: X:50081785-50081785
19 NPHS1 NM_004646.4(NPHS1):c.456del (p.Gln154fs) Deletion Likely pathogenic 988124 GRCh37: 19:36341933-36341933
GRCh38: 19:35851031-35851031
20 RUNX2 NM_001024630.4(RUNX2):c.770_771del (p.Met257fs) Deletion Likely pathogenic 988232 GRCh37: 6:45459762-45459763
GRCh38: 6:45492025-45492026
21 PLCE1 NM_016341.4(PLCE1):c.4182_4201dup (p.Tyr1401fs) Duplication Likely pathogenic 988226 GRCh37: 10:96025612-96025613
GRCh38: 10:94265855-94265856
22 MYO1E NM_004998.4(MYO1E):c.1567C>T (p.Arg523Trp) SNV Likely pathogenic 988196 GRCh37: 15:59497648-59497648
GRCh38: 15:59205449-59205449
23 LOC112272600 , MYO1E NM_004998.4(MYO1E):c.3094_3097del (p.Thr1032fs) Microsatellite Likely pathogenic 988197 GRCh37: 15:59430550-59430553
GRCh38: 15:59138351-59138354
24 LAMB2 NM_002292.4(LAMB2):c.2898del (p.Ala967fs) Deletion Likely pathogenic 988164 GRCh37: 3:49162345-49162345
GRCh38: 3:49124912-49124912
25 COL4A4 NM_000092.5(COL4A4):c.158_159del (p.Ser53fs) Microsatellite Likely pathogenic 988181 GRCh37: 2:228004910-228004911
GRCh38: 2:227140194-227140195
26 NPHS2 NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) SNV risk factor 5370 rs61747728 GRCh37: 1:179526214-179526214
GRCh38: 1:179557079-179557079
27 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.923C>T (p.Ala308Val) SNV Likely pathogenic 988166 GRCh37: 1:179520537-179520537
GRCh38: 1:179551402-179551402
28 NPHS2 NM_014625.4(NPHS2):c.550_551del (p.Met184fs) Deletion Likely pathogenic 988167 GRCh37: 1:179526349-179526350
GRCh38: 1:179557214-179557215
29 PAX2 NM_000278.5(PAX2):c.388C>T (p.Pro130Ser) SNV Likely pathogenic 988169 GRCh37: 10:102510626-102510626
GRCh38: 10:100750869-100750869
30 NPHS1 NM_004646.3(NPHS1):c.619del (p.Arg207fs) Deletion Likely pathogenic 370188 rs778217926 GRCh37: 19:36340545-36340545
GRCh38: 19:35849643-35849643
31 NPHS1 NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) Indel Likely pathogenic 56518 rs1555763603 GRCh37: 19:36340543-36340550
GRCh38: 19:35849641-35849648
32 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro) SNV Likely pathogenic 988125 GRCh37: 1:179520495-179520495
GRCh38: 1:179551360-179551360
33 COL4A4 NM_000092.5(COL4A4):c.995G>T (p.Gly332Val) SNV Likely pathogenic 988147 GRCh37: 2:227966254-227966254
GRCh38: 2:227101538-227101538
34 COL4A4 NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) SNV Likely pathogenic 988148 GRCh37: 2:227946875-227946875
GRCh38: 2:227082159-227082159
35 COL4A4 NM_000092.5(COL4A4):c.1045C>T SNV Likely pathogenic 447178 rs534522842 GRCh37: 2:227964390-227964390
GRCh38: 2:227099674-227099674
36 COQ8B NM_024876.4(COQ8B):c.748G>C (p.Asp250His) SNV Likely pathogenic 974478 GRCh37: 19:41209497-41209497
GRCh38: 19:40703592-40703592
37 COL4A5 NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs) Insertion Likely pathogenic 988111 GRCh37: X:107850071-107850072
GRCh38: X:108606841-108606842
38 FAT1 NM_005245.4(FAT1):c.857A>G (p.Asn286Ser) SNV Likely pathogenic 684628 rs201488687 GRCh37: 4:187630125-187630125
GRCh38: 4:186708971-186708971
39 FAT1 NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val) SNV Likely pathogenic 684629 rs369363545 GRCh37: 4:187627974-187627974
GRCh38: 4:186706820-186706820
40 FAT1 NM_005245.4(FAT1):c.4517G>A (p.Arg1506His) SNV Likely pathogenic 684630 rs570583897 GRCh37: 4:187549724-187549724
GRCh38: 4:186628570-186628570
41 FAT1 NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly) SNV Likely pathogenic 684631 rs375998390 GRCh37: 4:187534467-187534467
GRCh38: 4:186613313-186613313
42 FAT1 NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr) SNV Likely pathogenic 684632 rs185078412 GRCh37: 4:187542069-187542069
GRCh38: 4:186620915-186620915
43 LAMA5 NM_005560.5(LAMA5):c.2239C>T (p.Arg747Trp) SNV Uncertain significance 684685 rs370940497 GRCh37: 20:60911480-60911480
GRCh38: 20:62336424-62336424
44 LAMA5 NM_005560.5(LAMA5):c.3002A>G (p.Glu1001Gly) SNV Uncertain significance 684686 rs1601356283 GRCh37: 20:60908639-60908639
GRCh38: 20:62333583-62333583
45 LAMA5 NM_005560.5(LAMA5):c.8842G>A (p.Gly2948Ser) SNV Uncertain significance 684687 rs529211517 GRCh37: 20:60888257-60888257
GRCh38: 20:62313201-62313201
46 FAT1 NM_005245.4(FAT1):c.10481A>G (p.Gln3494Arg) SNV Uncertain significance 870376 GRCh37: 4:187525598-187525598
GRCh38: 4:186604444-186604444
47 MYH9 NM_002473.6(MYH9):c.3964C>T (p.Arg1322Trp) SNV Uncertain significance 930194 GRCh37: 22:36689506-36689506
GRCh38: 22:36293460-36293460
48 MYH9 NM_002473.6(MYH9):c.4358A>G (p.Glu1453Gly) SNV Uncertain significance 930195 GRCh37: 22:36685330-36685330
GRCh38: 22:36289284-36289284
49 MYO1E NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val) SNV Uncertain significance 930196 GRCh37: 15:59500995-59500995
GRCh38: 15:59208796-59208796
50 NPHS1 NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala) SNV Uncertain significance 930198 GRCh37: 19:36339230-36339230
GRCh38: 19:35848328-35848328

Expression for Nephrotic Syndrome

Search GEO for disease gene expression data for Nephrotic Syndrome.

Pathways for Nephrotic Syndrome

GO Terms for Nephrotic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.67 LAMB2 COL4A5 COL4A4 COL4A3
2 endoplasmic reticulum lumen GO:0005788 9.62 LAMB2 COL4A5 COL4A4 COL4A3
3 basement membrane GO:0005604 9.46 LAMB2 COL4A5 COL4A4 COL4A3
4 collagen trimer GO:0005581 9.43 COL4A5 COL4A4 COL4A3
5 slit diaphragm GO:0036057 9.13 TRPC6 NPHS2 NPHS1
6 collagen type IV trimer GO:0005587 8.8 COL4A5 COL4A4 COL4A3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.8 LAMB2 COL4A5 COL4A4 COL4A3
2 camera-type eye development GO:0043010 9.5 WT1 PAX2 FAT1
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.48 COL4A5 COL4A3
4 glomerular visceral epithelial cell development GO:0072015 9.46 NPHS1 MYO1E
5 mesenchymal to epithelial transition GO:0060231 9.43 WT1 PAX2
6 metanephric mesenchyme development GO:0072075 9.4 WT1 PAX2
7 glomerulus development GO:0032835 9.37 WT1 PLCE1
8 excretion GO:0007588 9.33 NPHS2 NPHS1 CLCN5
9 metanephric epithelium development GO:0072207 9.26 WT1 PAX2
10 glomerular basement membrane development GO:0032836 9.02 WT1 NPHS1 MYO1E COL4A4 COL4A3
11 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 NPHS2 LAMB2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL4A5 COL4A4 COL4A3
2 extracellular matrix structural constituent GO:0005201 8.92 LAMB2 COL4A5 COL4A4 COL4A3

Sources for Nephrotic Syndrome

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17 EFO
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29 GTR
30 HMDB
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