Idiopathic Nephrotic Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Idiopathic Nephrotic Syndrome

MalaCards integrated aliases for Idiopathic Nephrotic Syndrome:

Name: Idiopathic Nephrotic Syndrome 59 6


Orphanet epidemiological data:

idiopathic nephrotic syndrome
Age of onset: All ages;


Orphanet: 59  
Rare renal diseases

External Ids:

UMLS via Orphanet 73 C3496337
Orphanet 59 ORPHA357502

Summaries for Idiopathic Nephrotic Syndrome

MalaCards based summary : Idiopathic Nephrotic Syndrome is related to focal segmental glomerulosclerosis and lipoid nephrosis. An important gene associated with Idiopathic Nephrotic Syndrome is NPHS2 (NPHS2 Stomatin Family Member, Podocin), and among its related pathways/superpathways are Allograft rejection and Selenium Micronutrient Network. The drugs rituximab and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and t cells, and related phenotypes are endocrine/exocrine gland and cardiovascular system

Related Diseases for Idiopathic Nephrotic Syndrome

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

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 32.5 TGFB1 NPHS2 ALB ACE
2 lipoid nephrosis 31.7 NPHS2 ALB
3 glomerulonephritis 30.6 TGFB1 NPHS2 ALB
4 interstitial nephritis 30.6 ALB ACE
5 anuria 30.4 ALB ACE
6 microvascular complications of diabetes 3 30.4 ALB ACE
7 renal hypertension 30.3 ALB ACE
8 pyelonephritis 30.1 ALB ACE
9 end stage renal failure 30.0 TGFB1 NPHS2 ALB ACE
10 membranous nephropathy 29.8 TGFB1 NPHS2 ALB ACE
11 diffuse mesangial sclerosis 29.7 TGFB1 NPHS2
12 iga glomerulonephritis 29.4 TGFB1 NPHS2 ALB ACE
13 kidney disease 29.0 TGFB1 NPHS2 APOE ALB ACE
14 diabetes mellitus, insulin-dependent 28.8 IL4 HLA-DRB1 ALB ACE
15 systemic lupus erythematosus 28.0 TGFB1 IL4 HLA-DRB1 ALB ACE
16 nephrotic syndrome, type 2 11.6
17 nephrotic syndrome, idiopathic, steroid-resistant 11.6
18 nephrotic syndrome 11.2
19 loeffler syndrome 10.5 ALB ACE
20 orthostatic proteinuria 10.5 ALB ACE
21 syndrome of inappropriate antidiuretic hormone 10.5 ALB ACE
22 hypertensive nephropathy 10.5 ALB ACE
23 mesangial proliferative glomerulonephritis 10.5
24 phenytoin toxicity 10.4 ALB ABCB1
25 hepatorenal syndrome 10.4 ALB ACE
26 proliferative glomerulonephritis 10.4
27 moderate and severe traumatic brain injury 10.4 APOE ACE
28 generalized atherosclerosis 10.4 APOE ACE
29 cerebral atherosclerosis 10.3 APOE ACE
30 familial lcat deficiency 10.3 APOE ALB
31 ige responsiveness, atopic 10.3
32 membranoproliferative glomerulonephritis 10.3
33 anteroseptal myocardial infarction 10.3 HLA-DRB1 ALB
34 intermittent claudication 10.3 ALB ACE
35 acute kidney failure 10.3
36 glomerular disease 10.3
37 hypersensitivity vasculitis 10.3 HLA-DRB1 ACE
38 corticosteroid-binding globulin deficiency 10.3 NR3C1 ALB
39 aortic atherosclerosis 10.3 APOE ACE
40 chronic inflammatory demyelinating polyradiculoneuropathy 10.3 HLA-DRB1 ALB
41 polyradiculoneuropathy 10.3 HLA-DRB1 ALB
42 pure red-cell aplasia 10.3 HLA-DRB1 ALB
43 hemorrhage, intracerebral 10.2 APOE ACE
44 fryns syndrome 10.2
45 neutropenia 10.2
46 mesial temporal lobe epilepsy with hippocampal sclerosis 10.2 HLA-DRB1 APOE
47 hypercholesterolemia, familial, 1 10.2
48 hydrops, lactic acidosis, and sideroblastic anemia 10.2
49 chronic kidney disease 10.2
50 hemorrhagic fever with renal syndrome 10.2 HLA-DRB1 ALB

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

Diseases related to Idiopathic Nephrotic Syndrome

Symptoms & Phenotypes for Idiopathic Nephrotic Syndrome

MGI Mouse Phenotypes related to Idiopathic Nephrotic Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.95 ABCB1 ACE ALB APOE IL4 NR3C1
2 cardiovascular system MP:0005385 9.93 ABCB1 ACE APOE NPHS2 NR3C1 TGFB1
3 homeostasis/metabolism MP:0005376 9.92 ABCB1 ACE ALB APOE IL4 NPHS2
4 digestive/alimentary MP:0005381 9.91 ABCB1 ALB APOE IL4 NR3C1 TGFB1
5 growth/size/body region MP:0005378 9.91 ABCB1 ACE APOE IL4 NPHS2 NR3C1
6 liver/biliary system MP:0005370 9.8 ABCB1 ACE ALB APOE IL4 NR3C1
7 mortality/aging MP:0010768 9.76 ABCB1 ACE ALB APOE IL4 NPHS2
8 renal/urinary system MP:0005367 9.5 ACE ALB APOE IL4 NPHS2 NR3C1
9 reproductive system MP:0005389 9.1 ABCB1 ACE APOE IL4 NR3C1 TGFB1

Drugs & Therapeutics for Idiopathic Nephrotic Syndrome

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

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
rituximab Approved Phase 4 174722-31-7 10201696
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
3 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
4 Vaccines Phase 4
5 Hormones Phase 4
6 Hormone Antagonists Phase 4
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
8 Adrenocorticotropic Hormone Phase 4
9 beta-endorphin Phase 4
10 Melanocyte-Stimulating Hormones Phase 4
11 Immunoglobulin A Phase 4
12 Antineoplastic Agents, Immunological Phase 4
13 Antirheumatic Agents Phase 4
14 Calcineurin Inhibitors Phase 4
15 Antibodies Phase 4
16 Immunoglobulins Phase 4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
Mycophenolic acid Approved Phase 3 24280-93-1 446541
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
26 Alkylating Agents Phase 3
27 Antineoplastic Agents, Alkylating Phase 3
28 Prednisolone acetate Phase 3
29 Methylprednisolone Acetate Phase 3
30 Peripheral Nervous System Agents Phase 3
31 Anti-Inflammatory Agents Phase 3
32 glucocorticoids Phase 3
33 Antineoplastic Agents, Hormonal Phase 3
34 Anti-Infective Agents Phase 3
35 Anti-Bacterial Agents Phase 3
36 Antitubercular Agents Phase 3
37 Antibiotics, Antitubercular Phase 3
38 Tranquilizing Agents Phase 2, Phase 3
39 GABA Agents Phase 2, Phase 3
40 Antimanic Agents Phase 2, Phase 3
41 Neurotransmitter Agents Phase 2, Phase 3
42 Central Nervous System Depressants Phase 2, Phase 3
43 Psychotropic Drugs Phase 2, Phase 3
44 Anticonvulsants Phase 2, Phase 3
45 Adjuvants, Immunologic Phase 3
46 Antiparasitic Agents Phase 3
47 Anthelmintics Phase 3
48 Gastrointestinal Agents Phase 3
49 Antiemetics Phase 3
50 Neuroprotective Agents Phase 3

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Study of Safety, Immunogenicity and Immunological Memory of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Adjusted Steroid Therapy in Children With Idiopathic Nephrotic Syndrome Unknown status NCT02649413 Phase 4 Prednisone
3 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
4 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
5 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
6 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
7 A Multinational Prospective Study on the Duration of Steroid Therapy in Steroid Sensitive Nephrotic Syndrome Not yet recruiting NCT03878914 Phase 4 Corticosteroids
8 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
9 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
10 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
11 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
12 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
13 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
14 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. Recruiting NCT02818738 Phase 3 Levamisole Hydrochloride
15 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 Recruiting NCT03141970 Phase 3 Prednisolone
16 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
17 Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor-dependent Idiopathic Nephrotic Syndrome: an Open-label, Randomized, Controlled, Superiority Trial. Unknown status NCT02394119 Phase 2 Ofatumumab;Rituximab
18 Use of IL-2 for Pediatric, Multi Drug Resistant, Idiopathic Nephrotic Syndrome Completed NCT02455908 Phase 1, Phase 2 Proleukin®
19 Anti-CD20, Rituximab, for the Treatment of Recurrent or Primary Resistant Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00550342 Phase 2 rituximab
20 A Phase 2 Open-label Study to Evaluate the Efficacy of Allogeneic Human Cord Blood-derived Mesenchymal Stromal Cells in Maintaining Remission After Immunosuppressive Therapy Withdrawal in Pediatric Patients With Steroid-dependent Nephrotic Syndrome Enrolling by invitation NCT04034316 Phase 2
21 Treatment of Steroid Dependent Idiopathic Nephrotic Syndrome in Children With Low Doses of Interleukin 2: a Pilot Study Withdrawn NCT02997150 Phase 2 IL-2 Low dose
22 Allogenic Adipose Derived Mesenchymal Stromal Cells Transplantation to Improve Kidney Function in Refractory Primary Nephrotic Syndrome (Focal Segmental Glomerulosclerosis,FSGS) ,a Phase I Clinical Trial Unknown status NCT02382874 Phase 1
23 A Dose-Finding Pilot Study of ACTH on the Serum Lipoprotein Profile and Proteinuria in Patients With Idiopathic Membranous Nephropathy (MN) Completed NCT00805753 Phase 1 ACTH
24 Steroid Treatment of Childhood Idiopathic Nephrotic Syndrome: Epidemiology, Therapeutic Adequacy, Medium and Long Term Outcomes. A Prospective Observational Cohort Study. Unknown status NCT01386957
25 Safety and Efficacy of Combination Acthar Gel and Tacrolimus in the Treatment of Steroid Resistant Nephrotic Syndrome Unknown status NCT03042637 Acthar Gel and Tacrolimus
26 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
27 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
28 Viral Infection of Lymphoid Cells Occuring at the First Manifestation of Idiopathic Nephrotic Syndrome Completed NCT00577525
30 Kidney Disease Biomarkers Completed NCT00255398
31 Fluid Balance, Hormones and Urine Proteomics in Nephrotic Syndrome in Childhood Completed NCT00690586
32 Effect of Oral Galactose on the Level of Focal Sclerosis Permeability Factor and Proteinuria in Children With Steroid Resistant Nephrotic Syndrome: A Pilot Study Completed NCT01113385 D-Galactose
33 Diagnostic and Prognostic Value of Miss-1 Study in Children and Adult With Nephrotic Syndrome MISSNEPHROTIQUE Recruiting NCT03592030
34 The FOrMe Registry (The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry) Recruiting NCT03949972
35 Nephrotic Syndrome Study Network Under the Rare Diseases Clinical Research Network Recruiting NCT01209000
36 A Prospective Observational Study to Assess the Efficacy an Safety of Glucocorticoid Therapy in the Treatment of Adult Idiopathic Nephrotic Syndrome Active, not recruiting NCT02298335 prednisone

Search NIH Clinical Center for Idiopathic Nephrotic Syndrome

Genetic Tests for Idiopathic Nephrotic Syndrome

Anatomical Context for Idiopathic Nephrotic Syndrome

MalaCards organs/tissues related to Idiopathic Nephrotic Syndrome:

Kidney, Bone, T Cells, B Cells, Endothelial, Neutrophil, Monocytes

Publications for Idiopathic Nephrotic Syndrome

Articles related to Idiopathic Nephrotic Syndrome:

(show top 50) (show all 1208)
# Title Authors PMID Year
Impact of acute kidney injury at the onset of idiopathic nephrotic syndrome in Japanese children. 38
31055685 2019
Study protocol: multicenter double-blind, randomized, placebo-controlled trial of rituximab for the treatment of childhood-onset early-stage uncomplicated frequently relapsing or steroid-dependent nephrotic syndrome (JSKDC10 trial). 38
31375087 2019
Bone mineral density and its influencing factors in children with idiopathic nephrotic syndrome: a prospective observational study. 38
31408410 2019
Prevention of relapses with levamisole as adjuvant therapy in children with a first episode of idiopathic nephrotic syndrome: study protocol for a double blind, randomised placebo-controlled trial (the LEARNS study). 38
31375606 2019
Amelioration of Lipopolysaccharide-Induced Nephrotic Proteinuria by NFAT5 Depletion Involves Suppressed NF-κB Activity. 38
30826989 2019
Human Th17 cells produce a soluble mediator that increases podocyte motility via signalling pathways which mimic PAR-1 activation. 38
31339775 2019
Carotid intima-media thickness in children with idiopathic nephrotic syndrome: A single center cross-sectional study
. 38
31079597 2019
Levamisole in Children with Idiopathic Nephrotic Syndrome: Clinical Efficacy and Pathophysiological Aspects. 38
31208104 2019
Quality of life in children with severe forms of idiopathic nephrotic syndrome in stable remission-A cross-sectional study. 38
31240744 2019
Atypical IgM on T cells predict relapse and steroid dependence in idiopathic nephrotic syndrome. 38
31285081 2019
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome. 38
30712057 2019
Plasma Free Homocysteine Levels in Children with Idiopathic Nephrotic Syndrome. 38
31142965 2019
Treating the idiopathic nephrotic syndrome: are steroids the answer? 38
29869116 2019
European Society of Pediatric Nephrology survey on current practice regarding recurrent focal segmental glomerulosclerosis after pediatric kidney transplantation. 38
30825259 2019
Remission of proteinuria in multidrug-resistant idiopathic nephrotic syndrome following immunoglobulin immunoadsorption. 38
30230027 2019
Five-year outcome of children with idiopathic nephrotic syndrome: the NEPHROVIR population-based cohort study. 38
30552564 2019
Idiopathic nephrotic syndrome and rituximab: may we predict circulating B lymphocytes recovery? 38
30542932 2019
Outcomes of Older Patients (≥60 years) with New-Onset Idiopathic Nephrotic Syndrome Receiving Immunosuppressive Regimen: A Multicentre Study of 116 Patients. 38
30832362 2019
Association of endothelin receptor type A rs5333 gene polymorphism with steroid response in Egyptian children with idiopathic nephrotic syndrome. 38
30672385 2019
Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices. 38
30803442 2019
Profile of Acute Kidney Injury in Hospitalized Children with Idiopathic Nephrotic Syndrome. 38
30819990 2019
Bayesian treatment comparison using parametric mixture priors computed from elicited histograms. 38
28870123 2019
Evidence for a role of angiotensin converting enzyme 2 in proteinuria of idiopathic nephrotic syndrome. 38
30514826 2019
Quality Improvement Initiative to Reduce Admissions for Nephrotic Syndrome Relapse in Pediatric Patients. 38
30984729 2019
Nephrotic syndrome co-existing with type 1 diabetes in a 12-year-old boy: Case report and literature review. 38
30728982 2019
Association of Cytotoxic T-Lymphocyte Antigen-4 (CTLA4) Gene and CD80 Expression in Children with Idiopathic Nephrotic Syndrome. 38
30328084 2019
Pediatric Patients With Steroid-Sensitive Nephrotic Syndrome Have Higher Expression of T Regulatory Lymphocytes in Comparison to Steroid-Resistant Disease. 38
31001501 2019
Central Precocious Puberty as a Complication of Therapy with Adrenocorticotropin (ACTH) and an Aromatase Inhibitor for Refractory Nephrotic Syndrome. 38
31093404 2019
Assessment of the Concentration of Bone Metabolism Markers: Sclerostin and FGF-23 in Children with Idiopathic Nephrotic Syndrome Treated with Glucocorticosteroids. 38
31354894 2019
B cell phenotype in pediatric idiopathic nephrotic syndrome. 38
30267238 2019
Increased urinary exosomal microRNAs in children with idiopathic nephrotic syndrome. 38
30467011 2019
Are microRNA potential biomarkers in children with idiopathic nephrotic syndrome? 38
30584009 2019
Open-Label Clinical Trials of Oral Pulse Dexamethasone for Adults with Idiopathic Nephrotic Syndrome. 38
30965344 2019
Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) Gene Expression and Urinary CTLA4 Levels in Idiopathic Nephrotic Syndrome. 38
29968132 2019
Prolonged Impairment of Immunological Memory After Anti-CD20 Treatment in Pediatric Idiopathic Nephrotic Syndrome. 38
31379849 2019
Management of steroid-resistant nephrotic syndrome in children and adolescents. 38
30342869 2018
Interleukin-7 stimulation inhibits nephrin activation and induces podocyte injury. 38
30454893 2018
[Up to date of pathophysiology mechanism of idiopathic nephrotic syndromes: Minimal change disease and focal and segmental glomerulosclerosis]. 38
30150079 2018
[Association of an Idiopathic nephrotic syndrome and Ulcerative colitis]. 38
30343829 2018
Study protocol: mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicenter double-blind, randomized, placebo-controlled trial (JSKDC07). 38
30382824 2018
Brachial Artery Flow-mediated Dilatation and Carotid Intima-Media Thickness in Children With Idiopathic Nephrotic Syndrome. 38
30595562 2018
Difficult-to-treat idiopathic nephrotic syndrome: established drugs, open questions and future options. 38
28879428 2018
Multicenter analysis of the efficacy and safety of a non-standard immunosuppressive therapy with rituximab in children with steroid-resistant nephrotic syndrome. 38
30346047 2018
Initial treatment of steroid-sensitive idiopathic nephrotic syndrome in children with mycophenolate mofetil versus prednisone: protocol for a randomised, controlled, multicentre trial (INTENT study). 38
30309995 2018
Cerebral Venous Sinus Thrombosis in a Child with Idiopathic Nephrotic Syndrome: a case report. 38
30080915 2018
Rituximab in steroid-sensitive nephrotic syndrome: lessons from clinical trials. 38
28717938 2018
Idiopathic Nephrotic Syndrome: Characteristics and Identification of Prognostic Factors. 38
30205613 2018
T-lymphocyte-expressing inflammatory cytokines underlie persistence of proteinuria in children with idiopathic nephrotic syndrome. 38
28963877 2018
Effect of prednisolone on linear growth in children with nephrotic syndrome. 38
30240629 2018
Puromycin aminonucleoside triggers apoptosis in podocytes by inducing endoplasmic reticulum stress. 38
30254845 2018

Variations for Idiopathic Nephrotic Syndrome

ClinVar genetic disease variations for Idiopathic Nephrotic Syndrome:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic rs200482683 1:179521743-179521743 1:179552608-179552608
2 NPHS2 NM_014625.3(NPHS2): c.855_856del (p.Arg286fs) deletion Pathogenic/Likely pathogenic rs749740335 1:179521755-179521756 1:179552620-179552621
3 NPHS2 NM_014625.3(NPHS2): c.851C> T (p.Ala284Val) single nucleotide variant Pathogenic/Likely pathogenic 1:179521760-179521760 1:179552625-179552625
4 NPHS2 NM_014625.3(NPHS2): c.714G> T (p.Arg238Ser) single nucleotide variant Pathogenic/Likely pathogenic rs748812981 1:179526186-179526186 1:179557051-179557051
5 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 1:179530462-179530462 1:179561327-179561327
6 NPHS2 NM_014625.3(NPHS2): c.779T> A (p.Val260Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs775006954 1:179523626-179523626 1:179554491-179554491
7 NPHS2 NM_014625.3(NPHS2): c.467dup (p.Leu156fs) duplication Conflicting interpretations of pathogenicity rs528833893 1:179528880-179528880 1:179559746-179559746

Expression for Idiopathic Nephrotic Syndrome

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

Pathways for Idiopathic Nephrotic Syndrome

GO Terms for Idiopathic Nephrotic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.43 NPHS2 HLA-DRB1 APOE ALB ACE ABCB1
2 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DRB1 APOE
3 blood microparticle GO:0072562 8.8 TGFB1 APOE ALB

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.5 TGFB1 APOE ACE
2 T cell activation GO:0042110 9.43 TGFB1 IL4
3 negative regulation of T cell proliferation GO:0042130 9.4 TGFB1 HLA-DRB1
4 negative regulation of blood vessel endothelial cell migration GO:0043537 9.37 TGFB1 APOE
5 cellular response to dexamethasone stimulus GO:0071549 9.26 TGFB1 NR3C1
6 myeloid dendritic cell differentiation GO:0043011 9.16 TGFB1 IL4
7 high-density lipoprotein particle remodeling GO:0034375 8.96 APOE ALB
8 mononuclear cell proliferation GO:0032943 8.62 TGFB1 ACE

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.13 NR3C1 APOE ALB
2 antioxidant activity GO:0016209 8.62 APOE ALB

Sources for Idiopathic Nephrotic Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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