MCID: IDP091
MIFTS: 49

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 58 29 6

Characteristics:

Orphanet epidemiological data:

58
idiopathic nephrotic syndrome
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

UMLS via Orphanet 71 C3496337
Orphanet 58 ORPHA357502

Summaries for Idiopathic Nephrotic Syndrome

MalaCards based summary : Idiopathic Nephrotic Syndrome is related to nephrotic syndrome, type 2 and proteinuria, chronic benign, 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 Cytokine Signaling in Immune system and Immune response NFAT in immune response. The drugs Vaccines and Heptavalent Pneumococcal Conjugate Vaccine have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are cardiovascular system and digestive/alimentary

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 461)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 2 32.3 NPHS2 AXDND1
2 proteinuria, chronic benign 31.7 NPHS2 ALB ACE
3 focal segmental glomerulosclerosis 31.6 TGFB1 NPHS2 IL6 ALB ACE
4 glomerular disease 31.2 ALB ACE
5 glomerulonephritis 31.0 TGFB1 NPHS2 ALB ACE
6 idiopathic steroid-resistant nephrotic syndrome 30.6 NPHS2 ALB
7 membranous nephropathy 30.5 NPHS2 IL6 ALB ACE
8 nephrotic syndrome 30.4 NR3C1 NPHS2 IL6 IL4 AXDND1 APOE
9 hypertensive encephalopathy 30.3 ALB ACE
10 urinary tract infection 30.1 TGFB1 ACE
11 food allergy 30.1 IL4 IGHE ALB
12 acute kidney tubular necrosis 30.0 IL6 ALB ACE
13 hypokalemia 30.0 NR3C1 ALB ACE
14 exanthem 30.0 IL6 ALB ACE
15 end stage renal disease 30.0 TGFB1 NPHS2 IL6 ALB ACE
16 peritonitis 29.9 IL6 IL4 ALB
17 guillain-barre syndrome 29.9 HLA-DRB1 HLA-DQB1 ALB
18 microvascular complications of diabetes 3 29.9 TGFB1 ALB ACE
19 lipid metabolism disorder 29.9 IL6 APOE ACE
20 headache 29.9 HLA-DQB1 ALB ABCB1
21 iga glomerulonephritis 29.7 TGFB1 NPHS2 IL6 ALB ACE
22 toxocariasis 29.7 IL4 IGHE
23 purpura 29.7 IL6 IL4 ACE
24 kidney disease 29.7 TGFB1 NPHS2 IL6 APOE ALB ACE
25 acute pyelonephritis 29.7 IL6 ALB ACE
26 pyelonephritis 29.7 IL6 ALB ACE
27 acute cystitis 29.7 IL6 ALB ACE
28 tetanus 29.6 IL6 IL4 ALB
29 glucose intolerance 29.5 IL6 ALB ACE
30 alport syndrome 29.5 TGFB1 NPHS2 HLA-DRB1 ALB ACE
31 allergic disease 29.5 NR3C1 IL6 IL4 IGHE
32 atherosclerosis susceptibility 29.3 IL6 APOE ALB ACE
33 chronic kidney disease 29.2 TGFB1 NPHS2 IL6 AXDND1 APOE ALB
34 conjunctivitis 29.2 IL6 IL4 IGHE
35 cataract 29.2 NR3C1 IL6 APOE ALB ACE
36 colitis 29.2 IL6 IL4 HLA-DRB1 ABCB1
37 rhinitis 29.2 NR3C1 IL6 IL4 IGHE
38 ulcerative colitis 29.1 IL6 IL4 HLA-DRB1 ABCB1
39 vascular disease 28.9 TGFB1 IL6 APOE ALB ACE
40 type 1 diabetes mellitus 28.6 IL6 IL4 HLA-DRB1 HLA-DQB1 ALB ACE
41 thrombocytopenia 28.4 TGFB1 IL6 IL4 APOE ALB ABCB1
42 asthma 27.6 TGFB1 NR3C1 IL6 IL4 IGHE HLA-DRB1
43 genetic steroid-resistant nephrotic syndrome 11.2
44 mesangial proliferative glomerulonephritis 10.5
45 proliferative glomerulonephritis 10.5
46 ige responsiveness, atopic 10.4
47 membranoproliferative glomerulonephritis 10.4
48 acute kidney failure 10.4
49 orthostatic proteinuria 10.3 ALB ACE
50 conjunctival deposit 10.3 HLA-DRB1 ACE

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



Diseases related to Idiopathic Nephrotic Syndrome

Symptoms & Phenotypes for Idiopathic Nephrotic Syndrome

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 10.06 ABCB1 ACE ALB APOE HLA-DQB1 IL6
2 digestive/alimentary MP:0005381 9.97 ABCB1 ALB APOE HLA-DQB1 IL4 IL6
3 endocrine/exocrine gland MP:0005379 9.97 ABCB1 ACE ALB APOE HLA-DQB1 IL4
4 immune system MP:0005387 9.91 ABCB1 ACE ALB APOE HLA-DQB1 IL4
5 liver/biliary system MP:0005370 9.81 ABCB1 ACE ALB APOE HLA-DQB1 IL4
6 renal/urinary system MP:0005367 9.61 ACE ALB APOE HLA-DQB1 IL4 IL6
7 reproductive system MP:0005389 9.23 ABCB1 ACE APOE HLA-DQB1 IL4 IL6

Drugs & Therapeutics for Idiopathic Nephrotic Syndrome

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Heptavalent Pneumococcal Conjugate Vaccine 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
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
8
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
9
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
10
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
11
Maleic acid Experimental Phase 3 110-16-7 444266
12
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
13 Psychotropic Drugs Phase 2, Phase 3
14 Anticonvulsants Phase 2, Phase 3
15 Neurotransmitter Agents Phase 2, Phase 3
16 Calcineurin Inhibitors Phase 2, Phase 3
17 Immunosuppressive Agents Phase 3
18 Anti-Bacterial Agents Phase 3
19 Antibiotics, Antitubercular Phase 3
20 Antitubercular Agents Phase 3
21 Alkylating Agents Phase 3
22 Anti-Infective Agents Phase 3
23 Hormones Phase 3
24 Hormone Antagonists Phase 3
25 Anti-Inflammatory Agents Phase 3
26 glucocorticoids Phase 3
27 Antineoplastic Agents, Hormonal Phase 3
28 Methylprednisolone Acetate Phase 3
29
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
30
Cetirizine Approved Phase 2 83881-51-0 2678
31
ofatumumab Approved Phase 2 679818-59-8 6918251
32
rituximab Approved Phase 2 174722-31-7 10201696
33
Mycophenolic acid Approved Phase 2 24280-93-1 446541
34 Anti-Retroviral Agents Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Anti-HIV Agents Phase 1, Phase 2
37 Antineoplastic Agents, Immunological Phase 2
38 Antirheumatic Agents Phase 2
39 Immunologic Factors Phase 2
40 Immunoglobulins Phase 2
41 Antibodies Phase 2
42
Montelukast Approved 158966-92-8 5281040
43 Cyclosporins
44 interferons
45 Respiratory System Agents
46 Anti-Asthmatic Agents
47 Tin Fluorides
48 Leukotriene Antagonists

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Adjusted Steroid Therapy in Children With Idiopathic Nephrotic Syndrome Unknown status NCT02649413 Phase 4 Prednisone
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 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 Use of IL-2 for Pediatric, Multi Drug Resistant, Idiopathic Nephrotic Syndrome Completed NCT02455908 Phase 1, Phase 2 Proleukin®
11 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
12 Efficacy and Safety of Rituximab in the First Episode of Pediatric Idiopathic Nephrotic Syndrome Recruiting NCT04783675 Phase 2 Rituximab
13 Randomized Controlled Trial Comparing Rituximab to Mycophenolate Mofetil in Children With Steroid-dependent Idiopathic Nephrotic Syndrome. Not yet recruiting NCT04585152 Phase 2 Rituximab Biosimilar
14 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
15 Steroid Treatment of Childhood Idiopathic Nephrotic Syndrome: Epidemiology, Therapeutic Adequacy, Medium and Long Term Outcomes. A Prospective Observational Cohort Study. Unknown status NCT01386957
16 A Prospective Observational Study to Assess the Efficacy an Safety of Glucocorticoid Therapy in the Treatment of Adult Idiopathic Nephrotic Syndrome Completed NCT02298335 prednisone
17 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
18 Role of Montelukast in Preventing Relapse in Childhood Idiopathic Nephrotic Syndrome Completed NCT04818723 Montelukast
19 Viral Infection of Lymphoid Cells Occuring at the First Manifestation of Idiopathic Nephrotic Syndrome Completed NCT00577525
20 PHARMACOKINETICS OF CYCLOSPORIN - A MICROEMULSION IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME Completed NCT01616446
21 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
22 Effect of Daily Transcutaneous Auricular Vagus Nerve (taVNS) Stimulation on Proteinuria in Pediatric Patients With Idiopathic Nephrotic Syndrome Recruiting NCT04169776
23 A National Prospective Cohort of Patients With Idiopathic Nephrotic Syndrome Beginning in Childhood. Recruiting NCT04207580
24 A Pilot Trial of UrApp, a Novel Mobile Application for Childhood Nephrotic Syndrome Management Recruiting NCT04075656

Search NIH Clinical Center for Idiopathic Nephrotic Syndrome

Genetic Tests for Idiopathic Nephrotic Syndrome

Genetic tests related to Idiopathic Nephrotic Syndrome:

# Genetic test Affiliating Genes
1 Idiopathic Nephrotic Syndrome 29 NPHS2

Anatomical Context for Idiopathic Nephrotic Syndrome

MalaCards organs/tissues related to Idiopathic Nephrotic Syndrome:

40
Kidney, Heart, Bone, Brain, Lung, T Cells, Endothelial

Publications for Idiopathic Nephrotic Syndrome

Articles related to Idiopathic Nephrotic Syndrome:

(show top 50) (show all 1364)
# Title Authors PMID Year
1
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children. 61 6
28476686 2017
2
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 61 6
22578956 2012
3
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 6 61
19406966 2009
4
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 6 61
17899208 2007
5
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. 61 6
15769810 2005
6
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 6 61
8589695 1995
7
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
8
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. 6
30655312 2019
9
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. 6
30260545 2018
10
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children. 6
30450462 2018
11
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 6
29382718 2018
12
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. 6
30013592 2018
13
Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant. 6
28658201 2017
14
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 6
28204945 2017
15
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 6
28117080 2017
16
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 6
26668027 2016
17
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis. 6
26467726 2016
18
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 6
26413278 2015
19
NPHS2 mutations account for only 15% of nephrotic syndrome cases. 6
26420286 2015
20
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. 6
25720465 2015
21
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 6
25349199 2015
22
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
23
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 6
26138234 2015
24
Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 6
25599733 2015
25
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. 6
24500309 2014
26
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 6
24742477 2014
27
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. 6
25852895 2014
28
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 6
24856380 2014
29
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 6
24509478 2014
30
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 6
24227627 2014
31
Steroid-resistant nephrotic syndrome: impact of genetic testing. 6
24413855 2013
32
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 6
24072147 2013
33
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 6
23645318 2013
34
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 6
23595123 2013
35
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 6
23515051 2013
36
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 6
23242530 2013
37
CD80, suPAR and nephrotic syndrome in a case of NPHS2 mutation. 6
24089165 2013
38
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 6
22565185 2012
39
NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. 6
23013956 2012
40
Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss. 6
21636722 2011
41
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 6
21415313 2011
42
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 6
20947785 2011
43
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 6
20798252 2010
44
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 6
20507940 2010
45
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. 6
21171529 2010
46
R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms. 6
19674119 2009
47
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. 6
19371226 2009
48
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 6
19145239 2009
49
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 6
20001346 2009
50
Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation. 6
19067903 2008

Variations for Idiopathic Nephrotic Syndrome

ClinVar genetic disease variations for Idiopathic Nephrotic Syndrome:

6 (show top 50) (show all 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPHS2 NM_014625.3(NPHS2):c.104dup (p.Arg36fs) Duplication Pathogenic 447876 rs1320543506 GRCh37: 1:179544895-179544896
GRCh38: 1:179575760-179575761
2 NPHS2 NPHS2, 1-BP DEL, 419G Deletion Pathogenic 5363 GRCh37:
GRCh38:
3 NPHS2 NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys) SNV Pathogenic 5366 rs74315345 GRCh37: 1:179544726-179544726
GRCh38: 1:179575591-179575591
4 NPHS2 NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly) SNV Pathogenic 5367 rs74315346 GRCh37: 1:179528869-179528869
GRCh38: 1:179559734-179559734
5 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1848G>A SNV Pathogenic 224482 rs869312747 GRCh37: 1:179521799-179521799
GRCh38: 1:179552664-179552664
6 NPHS2 NM_014625.3(NPHS2):c.452-1G>A SNV Pathogenic 397592 rs1060499703 GRCh37: 1:179528897-179528897
GRCh38: 1:179559762-179559762
7 NPHS2 NM_014625.3(NPHS2):c.211C>T (p.Arg71Ter) SNV Pathogenic 549953 rs1462028977 GRCh37: 1:179544789-179544789
GRCh38: 1:179575654-179575654
8 NPHS2 NM_014625.3(NPHS2):c.385C>T (p.Gln129Ter) SNV Pathogenic 555037 rs755972674 GRCh37: 1:179530490-179530490
GRCh38: 1:179561355-179561355
9 NPHS2 NM_014625.3(NPHS2):c.378+1G>A SNV Pathogenic 553168 rs762631237 GRCh37: 1:179533824-179533824
GRCh38: 1:179564689-179564689
10 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.823dup (p.Gln275fs) Duplication Pathogenic 635471 rs1572262824 GRCh37: 1:179521787-179521788
GRCh38: 1:179552652-179552653
11 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3116T>A SNV Pathogenic 635511 rs1572255744 GRCh37: 1:179520531-179520531
GRCh38: 1:179551396-179551396
12 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.981del (p.Gln328fs) Deletion Pathogenic 801581 rs1572255047 GRCh37: 1:179520479-179520479
GRCh38: 1:179551344-179551344
13 NPHS2 NM_014625.4(NPHS2):c.576_577del (p.Ile192fs) Deletion Pathogenic 807638 rs1572277600 GRCh37: 1:179526323-179526324
GRCh38: 1:179557188-179557189
14 NPHS2 NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter) SNV Pathogenic 917730 GRCh37: 1:179544741-179544741
GRCh38: 1:179575606-179575606
15 NPHS2 NM_014625.4(NPHS2):c.419del (p.Gly140fs) Deletion Pathogenic 928542 GRCh37: 1:179530456-179530456
GRCh38: 1:179561321-179561321
16 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3135del Deletion Pathogenic 188990 rs775170915 GRCh37: 1:179520512-179520512
GRCh38: 1:179551377-179551377
17 NPHS2 NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter) SNV Pathogenic 224481 rs869312746 GRCh37: 1:179544885-179544885
GRCh38: 1:179575750-179575750
18 NPHS2 NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter) SNV Pathogenic 5361 rs74315343 GRCh37: 1:179530463-179530463
GRCh38: 1:179561328-179561328
19 NPHS2 NM_014625.3(NPHS2):c.538G>A (p.Val180Met) SNV Pathogenic 5368 rs74315347 GRCh37: 1:179526362-179526362
GRCh38: 1:179557227-179557227
20 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1891_3032-1890del Deletion Pathogenic 188823 rs749740335 GRCh37: 1:179521755-179521756
GRCh38: 1:179552620-179552621
21 NPHS2 NM_014625.3(NPHS2):c.-51G>T SNV Pathogenic 225143 rs12406197 GRCh37: 1:179545050-179545050
GRCh38: 1:179575915-179575915
22 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 GRCh37: 1:179526366-179526366
GRCh38: 1:179557231-179557231
23 NPHS2 NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu) SNV Pathogenic 222762 rs869025495 GRCh37: 1:179533850-179533850
GRCh38: 1:179564715-179564715
24 NPHS2 NM_014625.3(NPHS2):c.156del (p.Thr53fs) Deletion Pathogenic/Likely pathogenic 495108 rs1272948499 GRCh37: 1:179544844-179544844
GRCh38: 1:179575709-179575709
25 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.868G>A (p.Val290Met) SNV Pathogenic/Likely pathogenic 126418 rs200482683 GRCh37: 1:179521743-179521743
GRCh38: 1:179552608-179552608
26 NPHS2 NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) SNV Pathogenic/Likely pathogenic 556556 rs748812981 GRCh37: 1:179526186-179526186
GRCh38: 1:179557051-179557051
27 NPHS2 NM_014625.3(NPHS2):c.503G>A (p.Arg168His) SNV Pathogenic/Likely pathogenic 188730 rs530318579 GRCh37: 1:179528845-179528845
GRCh38: 1:179559710-179559710
28 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1907G>A SNV Pathogenic/Likely pathogenic 5369 rs74315348 GRCh37: 1:179521740-179521740
GRCh38: 1:179552605-179552605
29 NPHS2 NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) SNV Pathogenic/Likely pathogenic 370159 rs778055996 GRCh37: 1:179526257-179526257
GRCh38: 1:179557122-179557122
30 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1911A>T SNV Likely pathogenic 552884 rs967339926 GRCh37: 1:179521736-179521736
GRCh38: 1:179552601-179552601
31 NPHS2 NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) SNV Likely pathogenic 807639 rs1572282458 GRCh37: 1:179530496-179530496
GRCh38: 1:179561361-179561361
32 NPHS2 NM_014625.3:c.452delG Deletion Likely pathogenic 996286 GRCh37: 1:179528896-179528896
GRCh38: 1:179559761-179559761
33 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1887G>A SNV Likely pathogenic 562398 rs780761368 GRCh37: 1:179521760-179521760
GRCh38: 1:179552625-179552625
34 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3151G>A SNV Likely pathogenic 371673 rs763818901 GRCh37: 1:179520496-179520496
GRCh38: 1:179551361-179551361
35 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.953_955del (p.Ala318del) Deletion Likely pathogenic 974486 GRCh37: 1:179520505-179520507
GRCh38: 1:179551370-179551372
36 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3077G>A SNV Likely pathogenic 370718 rs199506378 GRCh37: 1:179520570-179520570
GRCh38: 1:179551435-179551435
37 NPHS2 NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) SNV Likely pathogenic 188892 rs12568913 GRCh37: 1:179526314-179526314
GRCh38: 1:179557179-179557179
38 NPHS2 NM_014625.3(NPHS2):c.249del (p.Leu84fs) Deletion Likely pathogenic 557597 rs1553316575 GRCh37: 1:179544751-179544751
GRCh38: 1:179575616-179575616
39 NPHS2 NM_014625.3(NPHS2):c.275-2A>G SNV Likely pathogenic 557752 rs1553315173 GRCh37: 1:179533930-179533930
GRCh38: 1:179564795-179564795
40 NPHS2 NM_014625.3(NPHS2):c.479A>T (p.Asp160Val) SNV Likely pathogenic 599118 rs74315346 GRCh37: 1:179528869-179528869
GRCh38: 1:179559734-179559734
41 NPHS2 NM_014625.3(NPHS2):c.167del (p.Glu56fs) Deletion Likely pathogenic 599119 rs1558355124 GRCh37: 1:179544833-179544833
GRCh38: 1:179575698-179575698
42 NPHS2 NM_014625.4(NPHS2):c.561G>A (p.Met187Ile) SNV Likely pathogenic 989252 GRCh37: 1:179526339-179526339
GRCh38: 1:179557204-179557204
43 NPHS2 NM_014625.3(NPHS2):c.738+2T>C SNV Likely pathogenic 553546 rs1212702104 GRCh37: 1:179526160-179526160
GRCh38: 1:179557025-179557025
44 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1898C>T SNV Likely pathogenic 556281 rs1490010141 GRCh37: 1:179521749-179521749
GRCh38: 1:179552614-179552614
45 NPHS2 NM_014625.3(NPHS2):c.166dup (p.Glu56fs) Duplication Likely pathogenic 557323 rs1553316611 GRCh37: 1:179544833-179544834
GRCh38: 1:179575698-179575699
46 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1910C>T SNV Likely pathogenic 555445 rs1553312833 GRCh37: 1:179521737-179521737
GRCh38: 1:179552602-179552602
47 NPHS2 NM_014625.3(NPHS2):c.166G>T (p.Glu56Ter) SNV Likely pathogenic 555448 rs1167223941 GRCh37: 1:179544834-179544834
GRCh38: 1:179575699-179575699
48 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3059T>G SNV Likely pathogenic 552789 rs1031744496 GRCh37: 1:179520588-179520588
GRCh38: 1:179551453-179551453
49 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3060C>T SNV Likely pathogenic 552959 rs776016942 GRCh37: 1:179520587-179520587
GRCh38: 1:179551452-179551452
50 NPHS2 NM_014625.3(NPHS2):c.102delinsGG (p.Arg36fs) Indel Likely pathogenic 551115 rs1553316648 GRCh37: 1:179544898-179544898
GRCh38: 1:179575763-179575763

Expression for Idiopathic Nephrotic Syndrome

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

Pathways for Idiopathic Nephrotic Syndrome

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 TGFB1 IL6 IL4 IGHE HLA-DRB1 HLA-DQB1
2
Show member pathways
12.45 IL4 IGHE HLA-DRB1 HLA-DQB1
3
Show member pathways
12.37 TGFB1 IL6 IL4 HLA-DRB1 HLA-DQB1 ABCB1
4
Show member pathways
12.34 TGFB1 IL6 IL4 HLA-DRB1 HLA-DQB1
5 12.15 TGFB1 IL6 HLA-DRB1 HLA-DQB1
6
Show member pathways
12.13 IL6 IL4 APOE ALB
7
Show member pathways
12.05 TGFB1 IL4 HLA-DRB1 HLA-DQB1
8 12.01 TGFB1 IL6 HLA-DRB1 HLA-DQB1
9 11.9 TGFB1 IL6 ALB
10 11.9 TGFB1 NR3C1 IL6
11 11.83 TGFB1 IL6 IL4
12 11.73 TGFB1 IL6 IL4 IGHE
13
Show member pathways
11.69 TGFB1 IL6 IL4
14 11.64 NR3C1 IL6 IL4
15 11.62 IL6 IL4 HLA-DRB1 HLA-DQB1
16 11.53 TGFB1 IL6 IL4
17 11.53 TGFB1 IL6 HLA-DRB1 HLA-DQB1
18 11.5 TGFB1 IL6 IL4
19 11.26 NR3C1 IL6 APOE
20 10.81 TGFB1 IL4
21 10.39 TGFB1 IL6 IL4 HLA-DRB1
22 10.21 TGFB1 IL6 IL4

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 space GO:0005615 9.5 TGFB1 IL6 IL4 HLA-DRB1 APOE ALB
2 blood microparticle GO:0072562 9.43 TGFB1 APOE ALB
3 MHC class II protein complex GO:0042613 9.16 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 TGFB1 IL6 IL4 HLA-DRB1 APOE
2 cytokine-mediated signaling pathway GO:0019221 9.71 TGFB1 IL6 IL4 IGHE
3 immune response GO:0006955 9.55 IL6 IL4 IGHE HLA-DRB1 HLA-DQB1
4 myeloid dendritic cell differentiation GO:0043011 9.54 TGFB1 IL4
5 high-density lipoprotein particle remodeling GO:0034375 9.52 APOE ALB
6 positive regulation of interleukin-17 production GO:0032740 9.51 TGFB1 IL6
7 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.49 HLA-DRB1 HLA-DQB1
8 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.46 TGFB1 IL6
9 neutrophil mediated immunity GO:0002446 9.43 IL6 ACE
10 positive regulation of amyloid-beta clearance GO:1900223 9.37 IL4 APOE
11 positive regulation of mononuclear cell migration GO:0071677 9.32 TGFB1 IL4
12 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.26 HLA-DRB1 HLA-DQB1
13 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.96 HLA-DRB1 HLA-DQB1
14 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 MHC class II receptor activity GO:0032395 8.62 HLA-DRB1 HLA-DQB1

Sources for Idiopathic Nephrotic Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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