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MCID: IDP091
MIFTS: 47

Idiopathic Nephrotic Syndrome

Categories: Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Idiopathic Nephrotic Syndrome

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MalaCards integrated aliases for Idiopathic Nephrotic Syndrome:

Name: Idiopathic Nephrotic Syndrome 58 29 6

Characteristics:

Orphanet epidemiological data:

58
idiopathic nephrotic syndrome
Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare renal diseases


External Ids:

UMLS via Orphanet 72 C3496337
Orphanet 58 ORPHA357502
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Summaries for Idiopathic Nephrotic Syndrome

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MalaCards based summary : Idiopathic Nephrotic Syndrome is related to nephrotic syndrome, type 2 and nephrotic syndrome, and has symptoms including edema 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 Folate Metabolism. The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include t cells, endothelial and neutrophil, and related phenotypes are cardiovascular system and digestive/alimentary

Sources

Related Diseases for Idiopathic Nephrotic Syndrome

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

(show top 50) (show all 330)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 2 32.3 NPHS2 AXDND1
2 nephrotic syndrome 32.1 NPHS2 ALB ACE
3 proteinuria, chronic benign 31.5 NPHS2 ALB ACE
4 glomerulonephritis 31.2 NPHS2 ALB ACE
5 glomerular disease 31.1 ALB ACE
6 membranous nephropathy 30.9 NPHS2 ALB ACE
7 end stage renal disease 30.8 NPHS2 ALB ACE
8 iga glomerulonephritis 30.6 NPHS2 ALB ACE
9 acute kidney tubular necrosis 30.4 ALB ACE
10 interstitial nephritis 30.4 HLA-DRB1 ALB ACE
11 familial nephrotic syndrome 30.4 NPHS2 ALB
12 kidney disease 30.4 NPHS2 APOE ALB ACE
13 chronic kidney disease 30.3 NPHS2 APOE ALB ACE
14 hypertensive encephalopathy 30.2 ALB ACE
15 anuria 30.1 ALB ACE
16 papilledema 30.1 ALB ACE
17 microvascular complications of diabetes 3 30.1 ALB ACE
18 hypokalemia 29.8 NR3C1 ALB ACE
19 atherosclerosis susceptibility 29.6 APOE ALB ACE
20 alport syndrome 29.6 NPHS2 HLA-DRB1 ALB ACE
21 ulcerative colitis 29.5 IL4 HLA-DRB1 ABCB1
22 guillain-barre syndrome 29.5 HLA-DRB1 HLA-DQB1 ALB
23 headache 29.4 HLA-DQB1 ALB ABCB1
24 cataract 29.2 NR3C1 APOE ALB ACE
25 type 1 diabetes mellitus 28.8 IL4 HLA-DRB1 HLA-DQB1 ALB ACE
26 asthma 28.6 NR3C1 IL4 HLA-DRB1 HLA-DQB1 ABCB1
27 focal segmental glomerulosclerosis 11.5
28 genetic steroid-resistant nephrotic syndrome 11.2
29 mesangial proliferative glomerulonephritis 10.5
30 proliferative glomerulonephritis 10.5
31 ige responsiveness, atopic 10.4
32 membranoproliferative glomerulonephritis 10.4
33 acute kidney failure 10.4
34 fryns syndrome 10.3
35 lipoid nephrosis 10.3
36 orthostatic proteinuria 10.3 ALB ACE
37 granulomatous hepatitis 10.3 ALB ACE
38 kidney papillary necrosis 10.3 ALB ACE
39 severe nonproliferative diabetic retinopathy 10.3 ALB ACE
40 intracranial embolism 10.3 ALB ACE
41 conjunctival deposit 10.3 HLA-DRB1 ACE
42 hypercholesterolemia, familial, 1 10.3
43 neutropenia 10.3
44 hypertensive retinopathy 10.3 ALB ACE
45 heart aneurysm 10.3 ALB ACE
46 constrictive pericarditis 10.2 ALB ACE
47 acute proliferative glomerulonephritis 10.2 NPHS2 ALB
48 renal artery disease 10.2 ALB ACE
49 cranial nerve palsy 10.2 ALB ACE
50 hypertensive nephropathy 10.2 ALB ACE

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



Diseases related to Idiopathic Nephrotic Syndrome
Sources

Symptoms & Phenotypes for Idiopathic Nephrotic Syndrome

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UMLS symptoms related to Idiopathic Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Idiopathic Nephrotic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 ABCB1 ACE ALB APOE HLA-DQB1 NPHS2
2 digestive/alimentary MP:0005381 9.73 ABCB1 ALB APOE HLA-DQB1 IL4 NR3C1
3 endocrine/exocrine gland MP:0005379 9.7 ABCB1 ACE ALB APOE HLA-DQB1 IL4
4 liver/biliary system MP:0005370 9.5 ABCB1 ACE ALB APOE HLA-DQB1 IL4
5 renal/urinary system MP:0005367 9.17 ACE ALB APOE HLA-DQB1 IL4 NPHS2
Sources

Drugs & Therapeutics for Idiopathic Nephrotic Syndrome

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
2 Vaccines Phase 4
3
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
rituximab Approved Phase 3 174722-31-7 10201696
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
8
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
9
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
10 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
11
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
12
Maleic acid Experimental Phase 3 110-16-7 444266
13
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
14 Immunosuppressive Agents Phase 2, Phase 3
15 Anticonvulsants Phase 2, Phase 3
16 Psychotropic Drugs Phase 2, Phase 3
17 Neurotransmitter Agents Phase 2, Phase 3
18 Calcineurin Inhibitors Phase 2, Phase 3
19 Antibiotics, Antitubercular Phase 3
20 Antitubercular Agents Phase 3
21 Anti-Bacterial Agents Phase 3
22 Anti-Infective Agents Phase 3
23 Alkylating Agents Phase 3
24 Immunologic Factors Phase 3
25 Antineoplastic Agents, Immunological Phase 3
26 Antirheumatic Agents Phase 3
27 Anti-Inflammatory Agents Phase 3
28 Hormone Antagonists Phase 3
29 Hormones Phase 3
30 glucocorticoids Phase 3
31 Antineoplastic Agents, Hormonal Phase 3
32 Methylprednisolone Acetate Phase 3
33
ofatumumab Approved Phase 2 679818-59-8 6918251
34
Cetirizine Approved Phase 2 83881-51-0 2678
35
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
36
Mycophenolic acid Approved Phase 2 24280-93-1 446541
37 Anti-HIV Agents Phase 1, Phase 2
38 Antiviral Agents Phase 1, Phase 2
39 Anti-Retroviral Agents Phase 1, Phase 2
40 Immunoglobulins Phase 2
41 Antibodies Phase 2
42 Cyclosporins
43 interferons

Interventional clinical trials:

(show all 22)
# 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 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
4 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
5 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
6 Rituximab in Patients With Low Dose Steroid-dependent Idiopathic Nephrotic Syndrome Completed NCT04494438 Phase 3 Rituximab
7 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
8 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
9 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
10 Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor-dependent Idiopathic Nephrotic Syndrome: an Open-label, Randomized, Controlled, Superiority Trial. Completed NCT02394119 Phase 2 Ofatumumab;Rituximab
11 Use of IL-2 for Pediatric, Multi Drug Resistant, Idiopathic Nephrotic Syndrome Completed NCT02455908 Phase 1, Phase 2 Proleukin®
12 Randomized Controlled Trial Comparing Rituximab to Mycophenolate Mofetil in Children With Steroid-dependent Idiopathic Nephrotic Syndrome. Not yet recruiting NCT04585152 Phase 2 Rituximab Biosimilar
13 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
14 Steroid Treatment of Childhood Idiopathic Nephrotic Syndrome: Epidemiology, Therapeutic Adequacy, Medium and Long Term Outcomes. A Prospective Observational Cohort Study. Unknown status NCT01386957
15 A Prospective Observational Study to Assess the Efficacy an Safety of Glucocorticoid Therapy in the Treatment of Adult Idiopathic Nephrotic Syndrome Completed NCT02298335 prednisone
16 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
17 Viral Infection of Lymphoid Cells Occuring at the First Manifestation of Idiopathic Nephrotic Syndrome Completed NCT00577525
18 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
19 PHARMACOKINETICS OF CYCLOSPORIN - A MICROEMULSION IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME Completed NCT01616446
20 A National Prospective Cohort of Patients With Idiopathic Nephrotic Syndrome Beginning in Childhood. Recruiting NCT04207580
21 Effect of Daily Transcutaneous Auricular Vagus Nerve (taVNS) Stimulation on Proteinuria in Pediatric Patients With Idiopathic Nephrotic Syndrome Recruiting NCT04169776
22 A Pilot Trial of UrApp, a Novel Mobile Application for Childhood Nephrotic Syndrome Management Recruiting NCT04075656

Search NIH Clinical Center for Idiopathic Nephrotic Syndrome

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Genetic Tests for Idiopathic Nephrotic Syndrome

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Genetic tests related to Idiopathic Nephrotic Syndrome:

# Genetic test Affiliating Genes
1 Idiopathic Nephrotic Syndrome 29 NPHS2
Sources

Anatomical Context for Idiopathic Nephrotic Syndrome

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MalaCards organs/tissues related to Idiopathic Nephrotic Syndrome:

40
T Cells, Endothelial, Neutrophil, Kidney, Nk Cells, Myeloid, B Cells
Sources

Publications for Idiopathic Nephrotic Syndrome

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Articles related to Idiopathic Nephrotic Syndrome:

(show top 50) (show all 1282)
# Title Authors PMID Year
1
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 61 6
8589695 1995
2
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 6
17109732 2007
3
Broadening the spectrum of diseases related to podocin mutations. 6
12707396 2003
4
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 6
11854170 2002
5
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 6
11805168 2002
6
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 6
11729243 2001
7
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 6
10742096 2000
8
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. 6
8606597 1996
9
Podocyte sphingomyelin phosphodiesterase acid-like 3b decreases among children with idiopathic nephrotic syndrome. 61
32946006 2021
10
Biomarkers in pediatric glomerulonephritis and nephrotic syndrome. 61
33389089 2021
11
CD80 Insights as Therapeutic Target in the Current and Future Treatment Options of Frequent-Relapse Minimal Change Disease. 61
33506028 2021
12
Thyroid function in patients with idiopathic nephrotic syndrome. 61
33432478 2021
13
[Rituximab treatment in pediatric patients with steroid-dependent nephrotic syndrome: a tertiary hospital]. 61
33518484 2021
14
Selected salivary parameters in children with idiopathic nephrotic syndrome: a preliminary study. 61
33413282 2021
15
Clinical Significance of Probiotics for Children with Idiopathic Nephrotic Syndrome. 61
33530312 2021
16
Hypomethylation of NLRP3 gene promoter discriminates glucocorticoid-resistant from glucocorticoid-sensitive idiopathic nephrotic syndrome patients. 61
33382913 2020
17
Predictive Value of Serum Interleukins in Children with Idiopathic Nephrotic Syndrome. 61
33463132 2020
18
Evaluation of carotid intima media thickness in children with idiopathic nephrotic syndrome. 61
33162364 2020
19
The Effect of Oral Cyclophosphamide in the Treatment of Children with Refractory Idiopathic Nephrotic Syndrome. 61
33277452 2020
20
Rituximab in childhood steroid-sensitive nephrotic syndrome: are multiple subsequent courses safe and effective? 61
33177054 2020
21
Thyroid Dysfunction in Children with Idiopathic Nephrotic Syndrome Attending a Paediatric Hospital in Qazvin, Iran. 61
33414938 2020
22
Influenza virus vaccination in children with nephrotic syndrome: insignificant risk of relapse. 61
32720203 2020
23
Randomized clinical trial to compare efficacy and safety of repeated courses of rituximab to single-course rituximab followed by maintenance mycophenolate-mofetil in children with steroid dependent nephrotic syndrome. 61
33256621 2020
24
Cerebral Venous Sinus Thrombosis in a Child With Idiopathic Nephrotic Syndrome: A Case Report and Review of the Literature. 61
33274130 2020
25
Glomerular endothelial cells and podocytes can express CD80 in patients with minimal change disease during relapse. 61
32399663 2020
26
Dysbiosis of gut microbiota in adult idiopathic membranous nephropathy with nephrotic syndrome. 61
32599137 2020
27
Remission and Relapses in Children with Steroid Sensitive Nephrotic Syndrome in Umuahia, South East Nigeria. 61
33058131 2020
28
Efficacy and safety of rituximab for childhood refractory nephrotic syndrome: A meta-analysis of randomized controlled trials. 61
33070945 2020
29
Population pharmacokinetics of mycophenolic acid in paediatric patients. 61
33118201 2020
30
A case of minimal change disease after the administration of anti receptor activator of nuclear factor kappa B ligand (RANKL) monoclonal antibody: a case report. 61
32993539 2020
31
Concurrent minimal change nephrotic syndrome and type 1 diabetes mellitus in an adult Japanese woman: a case report. 61
32967631 2020
32
Association of Urinary Vitamin D Binding Protein and Neutrophil Gelatinase-Associated Lipocalin with Steroid Responsiveness in Idiopathic Nephrotic Syndrome of Childhood. 61
33229759 2020
33
Behavioral Problems, Quality of Life and Caregiver Burden in Children with Idiopathic Nephrotic Syndrome: Improving Outcomes by Pragmatic Interventions in a Resource-Poor Setting. 61
32965653 2020
34
[Immunologic pathogenesis of idiopathic nephrotic syndrome in children: the present and future]. 61
32872709 2020
35
Timing and predictive factors of developing chronic kidney disease in childhood-onset idiopathic nephrotic syndrome: an Asian experience. 61
31489435 2020
36
Development and Validation of a Highly Sensitive Liquid Chromatography/Tandem Mass Spectrometry Technique to Determine Levamisole in Plasma and Saliva. 61
32910097 2020
37
Health-related quality of life in Egyptian children with nephrotic syndrome. 61
32016684 2020
38
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. 61
32382828 2020
39
Current Perspectives in Management of Edema in Nephrotic Syndrome. 61
32232733 2020
40
Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases. 61
32820208 2020
41
Role of cathepsin L in idiopathic nephrotic syndrome in children. 61
32289645 2020
42
Two cases of idiopathic steroid-resistant nephrotic syndrome complicated with thrombotic microangiopathy. 61
32746791 2020
43
The role of real-time shear wave elastography in the diagnosis of idiopathic nephrotic syndrome and evaluation of the curative effect. 61
32107581 2020
44
Parental understanding of relapsing idiopathic nephrotic syndrome-Where are the knowledge gaps? 61
31773812 2020
45
Oral health conditions in children with idiopathic nephrotic syndrome: a cross-sectional study. 61
32727436 2020
46
Primary nephrotic syndrome in the new millennium in KwaZulu-Natal, South Africa. 61
32880347 2020
47
Case Report on Paediatric Nephrotic Syndrome. 61
32549884 2020
48
Idiopathic nephrotic syndrome in children: role of regulatory T cells and gut microbiota. 61
32570267 2020
49
Annexin V in children with idiopathic nephrotic syndrome treated with cyclosporine A. 61
32469166 2020
50
[Vaccine recommendations for children with idiopathic nephrotic syndrome]. 61
32278737 2020
Sources

Variations for Idiopathic Nephrotic Syndrome

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ClinVar genetic disease variations for Idiopathic Nephrotic Syndrome:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHS2 NM_014625.3(NPHS2):c.104dup (p.Arg36fs) Duplication Pathogenic 447876 rs1320543506 1:179544895-179544896 1:179575760-179575761
2 NPHS2 NPHS2, 1-BP DEL, 419G Deletion Pathogenic 5363
3 NPHS2 NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys) SNV Pathogenic 5366 rs74315345 1:179544726-179544726 1:179575591-179575591
4 NPHS2 NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly) SNV Pathogenic 5367 rs74315346 1:179528869-179528869 1:179559734-179559734
5 NPHS2 NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter) SNV Pathogenic 224481 rs869312746 1:179544885-179544885 1:179575750-179575750
6 NPHS2 NM_144696.6(AXDND1):c.3032-1848G>A SNV Pathogenic 224482 rs869312747 1:179521799-179521799 1:179552664-179552664
7 NPHS2 NM_144696.6(AXDND1):c.3032-3135del Deletion Pathogenic 188990 rs775170915 1:179520512-179520512 1:179551377-179551377
8 NPHS2 NM_014625.3(NPHS2):c.-51G>T SNV Pathogenic 225143 rs12406197 1:179545050-179545050 1:179575915-179575915
9 NPHS2 NM_014625.3(NPHS2):c.452-1G>A SNV Pathogenic 397592 rs1060499703 1:179528897-179528897 1:179559762-179559762
10 NPHS2 NM_014625.3(NPHS2):c.211C>T (p.Arg71Ter) SNV Pathogenic 549953 rs1462028977 1:179544789-179544789 1:179575654-179575654
11 NPHS2 NM_014625.3(NPHS2):c.385C>T (p.Gln129Ter) SNV Pathogenic 555037 rs755972674 1:179530490-179530490 1:179561355-179561355
12 NPHS2 NM_014625.3(NPHS2):c.378+1G>A SNV Pathogenic 553168 rs762631237 1:179533824-179533824 1:179564689-179564689
13 NPHS2 NM_014625.4(NPHS2):c.823dup (p.Gln275fs) Duplication Pathogenic 635471 rs1572262824 1:179521787-179521788 1:179552652-179552653
14 NPHS2 NM_144696.6(AXDND1):c.3032-3116T>A SNV Pathogenic 635511 rs1572255744 1:179520531-179520531 1:179551396-179551396
15 NPHS2 NM_014625.4(NPHS2):c.981del (p.Gln328fs) Deletion Pathogenic 801581 rs1572255047 1:179520479-179520479 1:179551344-179551344
16 NPHS2 NM_014625.4(NPHS2):c.576_577del (p.Ile192fs) Deletion Pathogenic 807638 rs1572277600 1:179526323-179526324 1:179557188-179557189
17 NPHS2 NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter) SNV Pathogenic 917730 1:179544741-179544741 1:179575606-179575606
18 NPHS2 NM_014625.4(NPHS2):c.419del (p.Gly140fs) Deletion Pathogenic 928542 1:179530456-179530456 1:179561321-179561321
19 NPHS2 NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter) SNV Pathogenic 5361 rs74315343 1:179530463-179530463 1:179561328-179561328
20 NPHS2 NM_144696.6(AXDND1):c.3032-1891_3032-1890del Deletion Pathogenic 188823 rs749740335 1:179521755-179521756 1:179552620-179552621
21 NPHS2 NM_014625.3(NPHS2):c.538G>A (p.Val180Met) SNV Pathogenic 5368 rs74315347 1:179526362-179526362 1:179557227-179557227
22 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
23 NPHS2 NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu) SNV Pathogenic 222762 rs869025495 1:179533850-179533850 1:179564715-179564715
24 NPHS2 NM_014625.4(NPHS2):c.868G>A (p.Val290Met) SNV Pathogenic/Likely pathogenic 126418 rs200482683 1:179521743-179521743 1:179552608-179552608
25 NPHS2 NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) SNV Pathogenic/Likely pathogenic 556556 rs748812981 1:179526186-179526186 1:179557051-179557051
26 NPHS2 NM_014625.3(NPHS2):c.503G>A (p.Arg168His) SNV Pathogenic/Likely pathogenic 188730 rs530318579 1:179528845-179528845 1:179559710-179559710
27 NPHS2 NM_014625.3(NPHS2):c.156del (p.Thr53fs) Deletion Pathogenic/Likely pathogenic 495108 rs1272948499 1:179544844-179544844 1:179575709-179575709
28 NPHS2 NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) SNV Pathogenic/Likely pathogenic 370159 rs778055996 1:179526257-179526257 1:179557122-179557122
29 NPHS2 NM_144696.6(AXDND1):c.3032-1907G>A SNV Pathogenic/Likely pathogenic 5369 rs74315348 1:179521740-179521740 1:179552605-179552605
30 NPHS2 NM_014625.3(NPHS2):c.502C>T (p.Arg168Cys) SNV Likely pathogenic 188952 rs786204583 1:179528846-179528846 1:179559711-179559711
31 NPHS2 NM_014625.3(NPHS2):c.451+2T>A SNV Likely pathogenic 189111 rs786204708 1:179530422-179530422 1:179561287-179561287
32 NPHS2 NM_144696.6(AXDND1):c.3032-3077G>A SNV Likely pathogenic 370718 rs199506378 1:179520570-179520570 1:179551435-179551435
33 NPHS2 NM_014625.3(NPHS2):c.3G>A (p.Met1Ile) SNV Likely pathogenic 370679 rs1057516680 1:179544997-179544997 1:179575862-179575862
34 NPHS2 NM_014625.3(NPHS2):c.95_96insTA (p.Gly33fs) Insertion Likely pathogenic 370936 rs1057516880 1:179544904-179544905 1:179575769-179575770
35 NPHS2 NM_014625.3(NPHS2):c.685C>T (p.Arg229Ter) SNV Likely pathogenic 370340 rs1057516414 1:179526215-179526215 1:179557080-179557080
36 NPHS2 NM_014625.3(NPHS2):c.138_142dup (p.Ser48fs) Duplication Likely pathogenic 370759 rs1057516747 1:179544857-179544858 1:179575722-179575723
37 NPHS2 NM_144696.6(AXDND1):c.3032-1830C>T SNV Likely pathogenic 370486 rs1057516523 1:179521817-179521817 1:179552682-179552682
38 NPHS2 NM_144696.6(AXDND1):c.3032-1895G>A SNV Likely pathogenic 371301 rs1057517164 1:179521752-179521752 1:179552617-179552617
39 NPHS2 NM_144696.6(AXDND1):c.3032-3249dup Duplication Likely pathogenic 370964 rs1057516900 1:179520397-179520398 1:179551262-179551263
40 NPHS2 NM_014625.3(NPHS2):c.369del (p.Cys124fs) Deletion Likely pathogenic 370315 rs1057516395 1:179533834-179533834 1:179564699-179564699
41 NPHS2 NM_144696.6(AXDND1):c.3032-3151G>A SNV Likely pathogenic 371673 rs763818901 1:179520496-179520496 1:179551361-179551361
42 NPHS2 NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) SNV Likely pathogenic 807639 rs1572282458 1:179530496-179530496 1:179561361-179561361
43 NPHS2 NM_014625.3(NPHS2):c.738+2T>C SNV Likely pathogenic 553546 rs1212702104 1:179526160-179526160 1:179557025-179557025
44 NPHS2 NM_144696.6(AXDND1):c.3032-1898C>T SNV Likely pathogenic 556281 rs1490010141 1:179521749-179521749 1:179552614-179552614
45 NPHS2 NM_014625.3(NPHS2):c.166dup (p.Glu56fs) Duplication Likely pathogenic 557323 rs1553316611 1:179544833-179544834 1:179575698-179575699
46 NPHS2 NM_144696.6(AXDND1):c.3032-1910C>T SNV Likely pathogenic 555445 rs1553312833 1:179521737-179521737 1:179552602-179552602
47 NPHS2 NM_014625.3(NPHS2):c.166G>T (p.Glu56Ter) SNV Likely pathogenic 555448 rs1167223941 1:179544834-179544834 1:179575699-179575699
48 NPHS2 NM_144696.6(AXDND1):c.3032-3059T>G SNV Likely pathogenic 552789 rs1031744496 1:179520588-179520588 1:179551453-179551453
49 NPHS2 NM_144696.6(AXDND1):c.3032-1911A>T SNV Likely pathogenic 552884 rs967339926 1:179521736-179521736 1:179552601-179552601
50 NPHS2 NM_144696.6(AXDND1):c.3032-3060C>T SNV Likely pathogenic 552959 rs776016942 1:179520587-179520587 1:179551452-179551452
Sources

Expression for Idiopathic Nephrotic Syndrome

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

Pathways for Idiopathic Nephrotic Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Allograft rejection 36 1
Show member pathways
 12 IL4 HLA-DRB1 HLA-DQB1 ABCB1
2
Folate Metabolism 1
Show member pathways
 11.83 IL4 APOE ALB
3
Toxoplasmosis 36
Show member pathways
 11.61 IL4 HLA-DRB1 HLA-DQB1
4
G-protein signaling N-RAS regulation pathway 23
Show member pathways
 11.36 HLA-DRB1 HLA-DQB1
5
A-beta Pathways: Uptake and Degradation 64
10.87 APOE ACE
6
Hematopoietic cell lineage 36
10.79 IL4 HLA-DRB1 HLA-DQB1
7
Cytokines and Inflammatory Response 1
10.72 IL4 HLA-DRB1
Sources

GO Terms for Idiopathic Nephrotic Syndrome

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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 9.73 NPHS2 HLA-DRB1 APOE ALB ACE ABCB1
2 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.16 HLA-DRB1 HLA-DQB1
3 MHC class II protein complex GO:0042613 8.96 HLA-DRB1 HLA-DQB1
4 clathrin-coated endocytic vesicle membrane GO:0030669 8.8 HLA-DRB1 HLA-DQB1 APOE

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

# Name GO ID Score Top Affiliating Genes
1 high-density lipoprotein particle remodeling GO:0034375 9.32 APOE ALB
2 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.26 HLA-DRB1 HLA-DQB1
3 positive regulation of amyloid-beta clearance GO:1900223 9.16 IL4 APOE
4 humoral immune response mediated by circulating immunoglobulin GO:0002455 8.96 HLA-DRB1 HLA-DQB1
5 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.62 HLA-DRB1 HLA-DQB1

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

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 9.16 HLA-DRB1 HLA-DQB1
2 antioxidant activity GO:0016209 8.96 APOE ALB
3 MHC class II receptor activity GO:0032395 8.62 HLA-DRB1 HLA-DQB1
Sources

Sources for Idiopathic Nephrotic Syndrome

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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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