NPHS2
MCID: NPH049
MIFTS: 45

Nephrotic Syndrome, Type 2 (NPHS2)

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

Aliases & Classifications for Nephrotic Syndrome, Type 2

MalaCards integrated aliases for Nephrotic Syndrome, Type 2:

Name: Nephrotic Syndrome, Type 2 57 13 40
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 57 72
Nephrotic Syndrome Type 2 12 15
Nphs2 57 74
Srn1 57 74
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; Srn1 57
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome 12
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome 74
Nephrotic Syndrome, Type 2, Susceptibility to 6
Idiopathic Nephrotic Syndrome 72
Nephrotic Syndrome 2 74
Srn 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
rapidly progressive disorder
onset ranges from first to third decade
end-stage renal failure in first or second decade
usually poor response to steroid treatment


HPO:

32
nephrotic syndrome, type 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity juvenile onset rapidly progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080379
MeSH 44 D009404
UMLS 72 C1868672 C3496337

Summaries for Nephrotic Syndrome, Type 2

OMIM : 57 Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). (600995)

MalaCards based summary : Nephrotic Syndrome, Type 2, also known as nephrotic syndrome, steroid-resistant, autosomal recessive, is related to nephrotic syndrome, idiopathic, steroid-resistant and focal segmental glomerulosclerosis, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 2 is NPHS2 (NPHS2 Stomatin Family Member, Podocin). The drugs rituximab and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are proteinuria and edema

Disease Ontology : 12 A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has material basis in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.

UniProtKB/Swiss-Prot : 74 Nephrotic syndrome 2: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder.

Related Diseases for Nephrotic Syndrome, Type 2

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 Familial Nephrotic Syndrome
Congenital and Infantile Nephrotic Syndrome

Diseases related to Nephrotic Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 68, show less)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, idiopathic, steroid-resistant 31.3 NPHS2 AXDND1
2 focal segmental glomerulosclerosis 11.8
3 kidney disease 11.7
4 idiopathic nephrotic syndrome 11.7
5 nephrotic syndrome, type 1 11.7
6 end stage renal failure 11.7
7 chronic kidney disease 11.7
8 membranous nephropathy 11.7
9 lipoid nephrosis 11.6
10 glomerulonephritis 11.6
11 wilms tumor 1 11.6
12 frasier syndrome 11.6
13 familial nephrotic syndrome 11.6
14 glomerular disease 11.5
15 iga nephropathy 1 11.5
16 diffuse mesangial sclerosis 11.5
17 nail-patella syndrome 11.3
18 denys-drash syndrome 11.3
19 galloway-mowat syndrome 11.3
20 nephrosclerosis 11.3
21 crescentic glomerulonephritis 11.3
22 coenzyme q10 deficiency, primary, 6 11.3
23 hypoparathyroidism, sensorineural deafness, and renal disease 11.2
24 pierson syndrome 11.2
25 atrial septal defect 3 11.2
26 urinary system disease 11.2
27 discrete subaortic stenosis 11.2
28 subvalvular aortic stenosis 11.2
29 kidney hypertrophy 11.2
30 nephrotic syndrome, type 6 11.0
31 sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 11.0
32 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 11.0
33 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 11.0
34 chronic interstitial cystitis 10.4
35 macular degeneration, age-related, 1 10.3
36 iga glomerulonephritis 10.3
37 wilms tumor 5 10.2
38 polycystic kidney disease 10.2
39 chromophobe renal cell carcinoma 10.2
40 renal oncocytoma 10.2
41 parkinson disease, late-onset 10.2
42 visual epilepsy 10.2
43 hypoxia 10.2
44 seizure disorder 10.2
45 hypercholesterolemia, familial, 1 10.0
46 hypertriglyceridemia, familial 10.0
47 fryns syndrome 10.0
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
49 nephrotic syndrome, type 3 10.0
50 microvascular complications of diabetes 3 10.0
51 microvascular complications of diabetes 4 10.0
52 microvascular complications of diabetes 6 10.0
53 microvascular complications of diabetes 7 10.0
54 autosomal recessive disease 10.0
55 alport syndrome 10.0
56 heart disease 10.0
57 polyneuropathy 10.0
58 gonadal dysgenesis 10.0
59 rheumatic disease 10.0
60 enthesopathy 10.0
61 anuria 10.0
62 purpura 10.0
63 uremia 10.0
64 vasculitis 10.0
65 amyloidosis 10.0
66 nephrotic syndrome 9.8
67 food allergy 9.7
68 thrombophlebitis 9.7

Graphical network of the top 20 diseases related to Nephrotic Syndrome, Type 2:



Diseases related to Nephrotic Syndrome, Type 2

Symptoms & Phenotypes for Nephrotic Syndrome, Type 2

Human phenotypes related to Nephrotic Syndrome, Type 2:

32 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 edema 32 HP:0000969
3 nephrotic syndrome 32 HP:0000100
4 hyperlipidemia 32 HP:0003077
5 stage 5 chronic kidney disease 32 HP:0003774
6 hypoalbuminemia 32 HP:0003073
7 focal segmental glomerulosclerosis 32 HP:0000097

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
mesangial cell proliferation
loss of podocyte foot processes
more
Laboratory Abnormalities:
hyperlipidemia
hypoalbuminemia

Muscle Soft Tissue:
edema

Clinical features from OMIM:

600995

UMLS symptoms related to Nephrotic Syndrome, Type 2:


edema

Drugs & Therapeutics for Nephrotic Syndrome, Type 2

Drugs for Nephrotic Syndrome, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 75, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4 174722-31-7 10201696
2
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
17
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
18
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
19
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
20
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
21
Mycophenolic acid Approved Phase 3 24280-93-1 446541
22
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
23
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
24
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
25
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
51 Protective Agents Phase 3
52 Autonomic Agents Phase 3
53
Cetirizine Approved Phase 2 83881-51-0 2678
54
ofatumumab Approved Phase 2 679818-59-8 6918251
55
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
56
Acetaminophen Approved Phase 2 103-90-2 1983
57
Promethazine Approved, Investigational Phase 2 60-87-7 4927
58
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
59 Antibodies, Monoclonal Phase 2
60 Anti-HIV Agents Phase 1, Phase 2
61 Antiviral Agents Phase 1, Phase 2
62 Anti-Retroviral Agents Phase 1, Phase 2
63 Immunologic Factors Phase 2
64 Immunosuppressive Agents Phase 2
65 Pharmaceutical Solutions Phase 2
66
Zoledronic Acid Approved 118072-93-8 68740
67
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
68
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
69 Bone Density Conservation Agents
70 interferons
71 Cyclosporins
72 Antifungal Agents
73 Dermatologic Agents
74 Angiotensinogen
75 Giapreza

Interventional clinical trials:

(showing 40, show less)
# 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 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
27 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
28 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
29 Viral Infection of Lymphoid Cells Occuring at the First Manifestation of Idiopathic Nephrotic Syndrome Completed NCT00577525
30 PHARMACOKINETICS OF CYCLOSPORIN - A MICROEMULSION IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME Completed NCT01616446
31 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910
32 Kidney Disease Biomarkers Completed NCT00255398
33 Fluid Balance, Hormones and Urine Proteomics in Nephrotic Syndrome in Childhood Completed NCT00690586
34 Assessment of the Educational Experience for Patients With Newly Diagnosed Nephrotic Syndrome Completed NCT02190955
35 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
36 Diagnostic and Prognostic Value of Miss-1 Study in Children and Adult With Nephrotic Syndrome MISSNEPHROTIQUE Recruiting NCT03592030
37 The FOrMe Registry (The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry) Recruiting NCT03949972
38 Nephrotic Syndrome Study Network Under the Rare Diseases Clinical Research Network Recruiting NCT01209000
39 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
40 Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East Active, not recruiting NCT03326037

Search NIH Clinical Center for Nephrotic Syndrome, Type 2

Genetic Tests for Nephrotic Syndrome, Type 2

Anatomical Context for Nephrotic Syndrome, Type 2

MalaCards organs/tissues related to Nephrotic Syndrome, Type 2:

41
Kidney, Bone, Testes, Heart, Eye, Liver, Cortex

Publications for Nephrotic Syndrome, Type 2

Articles related to Nephrotic Syndrome, Type 2:

(showing 342, show less)
# Title Authors PMID Year
1
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 38 8 71
24509478 2014
2
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 38 8 71
23242530 2013
3
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 38 8 71
17109732 2007
4
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 38 8 71
12464671 2002
5
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 38 8 71
11729243 2001
6
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 38 8 71
10742096 2000
7
Broadening the spectrum of diseases related to podocin mutations. 8 71
12707396 2003
8
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. 8 71
8606597 1996
9
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 8 71
8589695 1995
10
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 38 71
23800802 2013
11
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 38 71
11854170 2002
12
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 38 71
11805168 2002
13
Disruption of PTPRO causes childhood-onset nephrotic syndrome. 71
21722858 2011
14
Familial forms of nephrotic syndrome. 8
19066979 2010
15
A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. 8
10966492 2000
16
Familial focal segmental glomerulosclerosis. 8
6229501 1983
17
Familial nephrotic syndrome with focal glomerular sclerosis. 8
7001902 1980
18
[Familial nephrotic syndrome with focal glomerular sclerosis (author's transl)]. 8
997538 1976
19
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology. 38
30099615 2019
20
Identification of key pathways and genes in different types of chronic kidney disease based on WGCNA. 38
31257514 2019
21
Urinary nephrospheres indicate recovery from acute kidney injury in renal allograft recipients - a pilot study. 38
31288784 2019
22
Cathepsin B increases ENaC activity leading to hypertension early in nephrotic syndrome. 38
31368174 2019
23
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome. 38
31308032 2019
24
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation. 38
31209189 2019
25
Podocytes and autophagy: a potential therapeutic target in lupus nephritis. 38
30755075 2019
26
Podocyte-specific expression of Cre recombinase promotes glomerular basement membrane thickening. 38
30810063 2019
27
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome. 38
30712057 2019
28
The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic? 38
31013750 2019
29
Genetics of congenital and infantile nephrotic syndrome. 38
30721404 2019
30
Spironolactone alleviates diabetic nephropathy through promoting autophagy in podocytes. 38
30734886 2019
31
Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant. 38
30777632 2019
32
In Reply to 'Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant'. 38
30777635 2019
33
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling. 38
30241959 2019
34
Treatment and outcome of congenital nephrotic syndrome. 38
29474669 2019
35
Inhibiting 4E-BP1 re-activation represses podocyte cell cycle re-entry and apoptosis induced by adriamycin. 38
30858353 2019
36
Non-collagen genes role in digenic Alport syndrome. 38
30808327 2019
37
Global polysome analysis of normal and injured podocytes. 38
30379099 2019
38
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. 38
30778115 2019
39
Glycated albumin level is significantly decreased in patients suffering nephrotic syndrome. 38
30905459 2019
40
Serum CA153 as biomarker for cancer and noncancer diseases. 38
30905456 2019
41
NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis. 38
30793612 2019
42
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. 38
30260545 2018
43
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. 38
30594156 2018
44
BDNF: mRNA expression in urine cells of patients with chronic kidney disease and its role in kidney function. 38
30133147 2018
45
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children. 38
30450462 2018
46
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93. 38
29869118 2018
47
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. 38
29637272 2018
48
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. 38
29663071 2018
49
C-terminal oligomerization of podocin mediates interallelic interactions. 38
29660491 2018
50
Management of children with congenital nephrotic syndrome: challenging treatment paradigms. 38
30215773 2018
51
Advances in molecular diagnosis and therapeutics in nephrotic syndrome and focal and segmental glomerulosclerosis. 38
29465426 2018
52
Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis. 38
29038887 2018
53
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 38
29382718 2018
54
Serum Response Factor Is Essential for Maintenance of Podocyte Structure and Function. 38
29114040 2018
55
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. 38
28921387 2018
56
Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome. 38
28385484 2018
57
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait. 38
30533233 2018
58
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. 38
29127259 2018
59
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. 38
30013592 2018
60
Weighted Gene Correlation Network Analysis (WGCNA) Detected Loss of MAGI2 Promotes Chronic Kidney Disease (CKD) by Podocyte Damage. 38
30448842 2018
61
Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant. 38
28658201 2017
62
Down-regulation of PAX2 promotes in vitro differentiation of podocytes from human CD34+ cells. 38
28852936 2017
63
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 38
28780565 2017
64
Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings. 38
29259860 2017
65
Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children. 38
28712774 2017
66
Changes in podocyte TRPC channels evoked by plasma and sera from patients with recurrent FSGS and by putative glomerular permeability factors. 38
28629718 2017
67
Combination of coenzyme Q10-loaded liposomes with ultrasound targeted microbubbles destruction (UTMD) for early theranostics of diabetic nephropathy. 38
28642201 2017
68
The Effect of Cortex/Medulla Proportions on Molecular Diagnoses in Kidney Transplant Biopsies: Rejection and Injury Can Be Assessed in Medulla. 38
28226404 2017
69
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. 38
27573339 2017
70
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children. 38
28476686 2017
71
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 38
28204945 2017
72
Proximal Tubular Expression Patterns of Megalin and Cubilin in Proteinuric Nephropathies. 38
29142988 2017
73
Construction of a viral T2A-peptide based knock-in mouse model for enhanced Cre recombinase activity and fluorescent labeling of podocytes. 38
28187984 2017
74
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 38
28117080 2017
75
Podocyte-specific chemokine (C-C motif) receptor 2 overexpression mediates diabetic renal injury in mice. 38
27914709 2017
76
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. 38
27885584 2017
77
Erratum to: Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. 38
27465543 2017
78
Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. 38
26820844 2017
79
Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report. 38
27701157 2017
80
R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome. 38
28529802 2017
81
NPHS2 Mutations: A Closer Look to Latin American Countries. 38
28785586 2017
82
An inducible mouse model of podocin-mutation-related nephrotic syndrome. 38
29049388 2017
83
Recurrent Nephrotic Syndrome After Renal Transplant in Children. 38
27934559 2016
84
Expansion of phenotype and genotypic data in CRB2-related syndrome. 38
27004616 2016
85
Recurrent Focal Segmental Glomerulosclerosis and Abatacept: Case Report. 38
25432003 2016
86
In silico Structural characterization of podocin and assessment of nephrotic syndrome-associated podocin mutants. 38
27193387 2016
87
Partial podocyte replenishment in experimental FSGS derives from nonpodocyte sources. 38
27076646 2016
88
[ManNAc, a new therapeutic agent to reduce Angptl4-induced proteinuria in MCD]. 38
27406771 2016
89
Post-Transplant Recurrence of Focal Segmental Glomerulosclerosis in a Child With Heterozygous Mutations in NPHS1 and NPHS2. 38
27312921 2016
90
The etiology of congenital nephrotic syndrome: current status and challenges. 38
26961288 2016
91
Identification of the dopamine transporter SLC6A3 as a biomarker for patients with renal cell carcinoma. 38
26831905 2016
92
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 38
26668027 2016
93
[NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome]. 38
26455708 2016
94
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 38
25967120 2016
95
Notch1 and Notch2 in Podocytes Play Differential Roles During Diabetic Nephropathy Development. 38
26293507 2015
96
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 38
26413278 2015
97
Integration of Cistromic and Transcriptomic Analyses Identifies Nphs2, Mafb, and Magi2 as Wilms' Tumor 1 Target Genes in Podocyte Differentiation and Maintenance. 38
25556170 2015
98
NPHS2 mutations account for only 15% of nephrotic syndrome cases. 38
26420286 2015
99
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. 38
25407002 2015
100
Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible. 38
25903641 2015
101
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. 38
25720465 2015
102
Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders. 38
25568173 2015
103
Focal segmental glomerulosclerosis: molecular genetics and targeted therapies. 38
26156092 2015
104
Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family. 38
25143137 2015
105
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 38
25349199 2015
106
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. 38
25635037 2015
107
Ret is critical for podocyte survival following glomerular injury in vivo. 38
25587123 2015
108
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'. 38
25713721 2015
109
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. 38
25729976 2015
110
Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 38
25599733 2015
111
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 38
26138234 2015
112
Steroid Resistant Nephrotic Syndrome-Genetic Consideration. 38
27442391 2015
113
Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation. 38
29043128 2015
114
Lmx1b and FoxC combinatorially regulate podocin expression in podocytes. 38
24854274 2014
115
Overexpression of Toll-like receptor 8 correlates with the progression of podocyte injury in murine autoimmune glomerulonephritis. 38
25468389 2014
116
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. 38
24682440 2014
117
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome. 38
25501161 2014
118
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. 38
24500309 2014
119
Integrative DNA methylation and gene expression analysis identifies discoidin domain receptor 1 association with idiopathic nonobstructive azoospermia. 38
25064398 2014
120
NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome. 38
25112471 2014
121
Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction? 38
25165177 2014
122
TGF-β-activated kinase 1 is crucial in podocyte differentiation and glomerular capillary formation. 38
24652804 2014
123
Therapeutic target for nephrotic syndrome: Identification of novel slit diaphragm associated molecules. 38
25332898 2014
124
mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis. 38
24969201 2014
125
NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians. 38
24674236 2014
126
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. 38
24715228 2014
127
[Mutational analysis of MYO1E in children with sporadic steroid-resistant nephrotic syndrome in Chinese Han ethnic group]. 38
25224051 2014
128
The calcium-activated chloride channel Anoctamin 1 contributes to the regulation of renal function. 38
24476694 2014
129
NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: is it responsive to immunosuppressive therapy? 38
24519673 2014
130
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. 38
25852895 2014
131
Re: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in south-west Iranian children. 38
24878955 2014
132
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 38
24856380 2014
133
Direct action of endothelin-1 on podocytes promotes diabetic glomerulosclerosis. 38
24722437 2014
134
A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin. 38
24596097 2014
135
Gene-gene interactions in APOL1-associated nephropathy. 38
24157943 2014
136
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 38
24227627 2014
137
Podocyte injury caused by indoxyl sulfate, a uremic toxin and aryl-hydrocarbon receptor ligand. 38
25244654 2014
138
CD2AP mRNA in urinary exosome as biomarker of kidney disease. 38
24144866 2014
139
[Recent advances in the research on mechanisms underlying podocyte-specific gene mutation-related steroid-resistant nephrotic syndrome]. 38
24461191 2014
140
Steroid-resistant nephrotic syndrome: impact of genetic testing. 38
24413855 2013
141
Does NPHS1 polymorphism modulate P118l mutation in NPHS2? 38
24231487 2013
142
Proteinuria impairs podocyte regeneration by sequestering retinoic acid. 38
23949798 2013
143
Hsf-1 affects podocyte markers NPHS1, NPHS2 and WT1 in a transgenic mouse model of TTRVal30Met-related amyloidosis. 38
23829269 2013
144
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 38
23686279 2013
145
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 38
24072147 2013
146
R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study. 38
24072153 2013
147
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 38
23645318 2013
148
The podocin mutation R229Q and early recurrence (within the first year) of glomerular disease after renal transplantation. 38
23982418 2013
149
Opposing effects of podocin on the gating of podocyte TRPC6 channels evoked by membrane stretch or diacylglycerol. 38
23657570 2013
150
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 38
23515051 2013
151
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 38
23595123 2013
152
Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 38
23913389 2013
153
Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China. 38
23778422 2013
154
Characterization of a short isoform of the kidney protein podocin in human kidney. 38
23648087 2013
155
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. 38
23349334 2013
156
Close relations between podocyte injuries and membranous proliferative glomerulonephritis in autoimmune murine models. 38
23817053 2013
157
A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems. 38
23437316 2013
158
CD80, suPAR and nephrotic syndrome in a case of NPHS2 mutation. 38
24089165 2013
159
Treatment of idiopathic focal segmental glomerulosclerosis: options in the event of resistance to corticosteroids and calcineurin inhibitors. 38
23897176 2013
160
Circulating suPAR in two cohorts of primary FSGS. 38
23138488 2012
161
Familial focal segmental glomerulosclerosis (FSGS) in a Nigerian family and exclusion of mutations in NPHS2,WT1 and APOL1. 38
23468032 2012
162
Telmisartan improves kidney function through inhibition of the oxidative phosphorylation pathway in diabetic rats. 38
22591908 2012
163
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. 38
22144119 2012
164
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 38
22732337 2012
165
[Correlation between Chinese medicine syndromes and the NPHS1 gene and NPHS2 gene polymorphism as well as corticosteroid sensitivity in patients with minimal change disease]. 38
23019946 2012
166
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 38
22565185 2012
167
Inducible podocyte injury and proteinuria in transgenic zebrafish. 38
22440901 2012
168
Gα12 activation in podocytes leads to cumulative changes in glomerular collagen expression, proteinuria and glomerulosclerosis. 38
22249312 2012
169
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. 38
22228437 2012
170
NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. 38
22080622 2012
171
Genetic association and gene-gene interaction analyses in African American dialysis patients with nondiabetic nephropathy. 38
22119407 2012
172
Role of the polarity protein Scribble for podocyte differentiation and maintenance. 38
22586490 2012
173
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 38
22578956 2012
174
NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. 38
23013956 2012
175
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome. 38
21614510 2012
176
[Therapeutic apheresis in idiopathic nephrotic syndrome]. 38
22388834 2012
177
Messenger RNA expression of B7-1 and NPHS1 in urinary sediment could be useful to differentiate between minimal-change disease and focal segmental glomerulosclerosis in adult patients. 38
21414970 2011
178
Nephrotic syndrome in infancy can spontaneously resolve. 38
21611885 2011
179
[The correlation between NPHS2 polymorphism and IgA nephropathy in northern Chinese patients]. 38
22321327 2011
180
Foothold of NPHS2 mutations in primary nephrotic syndrome. 38
22120861 2011
181
Marker expression, behaviors, and responses vary in different lines of conditionally immortalized cultured podocytes. 38
21632959 2011
182
New perspectives on the renal slit diaphragm protein podocin. 38
21499232 2011
183
Identification of the nephropathy-susceptibility locus HIVAN4. 38
21784893 2011
184
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 38
21415313 2011
185
Rituximab for refractory cases of childhood nephrotic syndrome. 38
21279725 2011
186
Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. 38
21355056 2011
187
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 38
20947785 2011
188
Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children. 38
21125408 2011
189
Podocyte-secreted angiopoietin-like-4 mediates proteinuria in glucocorticoid-sensitive nephrotic syndrome. 38
21151138 2011
190
A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family. 38
25949463 2010
191
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 38
20798252 2010
192
Simultaneous onset of steroid resistant nephrotic syndrome and IDDM in two young children. 38
22798086 2010
193
WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 38
20442690 2010
194
Podocyte-specific expression of tamoxifen-inducible Cre recombinase in mice. 38
20150167 2010
195
Tamoxifen-inducible podocyte-specific iCre recombinase transgenic mouse provides a simple approach for modulation of podocytes in vivo. 38
20641128 2010
196
Systematic analysis of a novel human renal glomerulus-enriched gene expression dataset. 38
20634963 2010
197
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 38
20507940 2010
198
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. 38
20591883 2010
199
Notch signaling, wt1 and foxc2 are key regulators of the podocyte gene regulatory network in Xenopus. 38
20431116 2010
200
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. 38
19956976 2010
201
Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome. 38
19876656 2010
202
[Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation]. 38
20441703 2010
203
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. 38
21171529 2010
204
Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy. 38
20025681 2009
205
Kidney disease in nail-patella syndrome. 38
18535845 2009
206
Induction of mesenchymal/epithelial marker expression in human amniotic fluid stem cells. 38
20031026 2009
207
Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children. 38
19808243 2009
208
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. 38
19495806 2009
209
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 38
19321760 2009
210
Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients. 38
19520069 2009
211
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 38
19406966 2009
212
Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression. 38
19381020 2009
213
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. 38
19371226 2009
214
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 38
19145239 2009
215
NPHS2 mutations in children with steroid-resistant nephrotic syndrome. 38
19395786 2009
216
[Genetic variations of NPHS2 and WT1 genes in 15 Chinese children with sporadic steroid-resistant nephrotic syndrome]. 38
19573440 2009
217
Genetic forms of nephrotic syndrome: a single-center experience in Brussels. 38
18709391 2009
218
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 38
20001346 2009
219
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. 38
19562271 2009
220
Tetracycline-inducible gene expression in conditionally immortalized mouse podocytes. 38
18753740 2009
221
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. 38
18726620 2008
222
Podocyte-specific loss of functional microRNAs leads to rapid glomerular and tubular injury. 38
18832437 2008
223
Podocyte-derived BMP7 is critical for nephron development. 38
18923055 2008
224
The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. 38
18499321 2008
225
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 38
18614772 2008
226
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. 38
18443213 2008
227
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. 38
18543005 2008
228
NPHS2 variation in focal and segmental glomerulosclerosis. 38
18823551 2008
229
[Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group]. 38
19099831 2008
230
NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome. 38
18392643 2008
231
Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome. 38
18385421 2008
232
Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis. 38
18462046 2008
233
Ectopic notch activation in developing podocytes causes glomerulosclerosis. 38
18337488 2008
234
Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation. 38
18208440 2008
235
A missense mutation in podocin leads to early and severe renal disease in mice. 38
18288100 2008
236
Eye involvement in children with primary focal segmental glomerulosclerosis. 38
18058136 2008
237
NPHS2 mutations. 38
18334793 2008
238
Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome. 38
18000687 2008
239
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. 38
18216321 2008
240
Electronic microarray screening of podocin mutations: a single-center study. 38
18683072 2008
241
WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. 38
17934764 2008
242
Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. 38
17968527 2008
243
Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome. 38
18380020 2007
244
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 38
17899208 2007
245
NPHS2 variation in sporadic focal segmental glomerulosclerosis. 38
17942957 2007
246
Steroid-resistant nephrotic syndrome: long-term evolution after sequential therapy. 38
17876609 2007
247
Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS. 38
17530296 2007
248
Lack of association between NPHS2 gene polymorphisms and sporadic IgA nephropathy. 38
17635752 2007
249
Lack of association between NPHS2 gene polymorphisms and Henoch-Schönlein purpura nephritis. 38
17393177 2007
250
Lack of cardiac anomalies in children with NPHS2 mutations. 38
17218332 2007
251
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. 38
17216259 2007
252
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). 38
17371932 2007
253
The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes. 38
17316599 2007
254
NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. 38
17211152 2007
255
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. 38
17699384 2007
256
Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected]. 38
17175312 2006
257
Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases. 38
16900088 2006
258
Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. 38
16721582 2006
259
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. 38
16909243 2006
260
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation. 38
16780544 2006
261
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 38
16912710 2006
262
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. 38
16810518 2006
263
Simvastatin maintains steady patterns of GFR and improves AER and expression of slit diaphragm proteins in type II diabetes. 38
16710349 2006
264
Neonatal nephrotic presentation of a child with heterozygous NPHS1 mutation. 38
16703378 2006
265
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. 38
16874699 2006
266
The relationship among nephrin, podocin, CD2AP, and alpha-actinin might not be a true 'interaction' in podocyte. 38
16501493 2006
267
Discordant evolution of nephrotic syndrome in mono- and dizygotic twins. 38
16382323 2006
268
Podocyte cell-specific expression of doxycycline inducible Cre recombinase in mice. 38
16467448 2006
269
NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. 38
16481888 2006
270
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. 38
16439601 2006
271
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin? 38
16291839 2006
272
Genetic basis of nephrotic syndrome--review. 38
16752799 2006
273
Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome. 38
16572591 2006
274
Identification of mouse mslp2 gene from EST databases by repeated searching, comparison, and assembling. 38
16324911 2006
275
[Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report]. 38
16898497 2006
276
Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene. 38
16354237 2005
277
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. 38
16316524 2005
278
Genetics of idiopathic nephrotic syndrome. 38
16186681 2005
279
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects. 38
16286890 2005
280
Circulating anti-actin and anti-ATP synthase antibodies identify a sub-set of patients with idiopathic nephrotic syndrome. 38
16045739 2005
281
Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. 38
15954915 2005
282
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. 38
15817495 2005
283
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. 38
15769810 2005
284
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 38
15780077 2005
285
[Structure and function of the glomerular filtration barrier]. 38
15997642 2005
286
[Steroid-resistant nephrotic syndrome and NPHS2 gene]. 38
15833180 2005
287
Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. 38
15627790 2005
288
Molecular basis of steroid-resistant nephrotic syndrome. 38
16050398 2005
289
Altered transcapillary escape of albumin and microalbuminuria reflects two different pathogenetic mechanisms. 38
15616033 2005
290
Genetic forms of nephrotic syndrome. 38
15503167 2004
291
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 38
15338398 2004
292
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. 38
15509792 2004
293
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 38
15367484 2004
294
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. 38
15496146 2004
295
A novel mutation of NPHS2 identified in a Chinese family. 38
15322893 2004
296
A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome. 38
15504144 2004
297
Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria. 38
15458479 2004
298
[Novel functional molecules of slit membrane]. 38
15500125 2004
299
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. 38
15327385 2004
300
Three siblings with steroid-resistant nephrotic syndrome: new NPHS2 mutations in a Turkish family. 38
15264208 2004
301
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. 38
15253708 2004
302
Genetic analysis of 22 candidate genes for hypertension in the Japanese population. 38
15167446 2004
303
NPHS2 mutation associated with recurrence of proteinuria after transplantation. 38
15015071 2004
304
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin. 38
15042551 2004
305
NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. 38
14871423 2004
306
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. 38
14978175 2004
307
[A novel mutation of NPHS2 identified in a Chinese family with steroid-resistant nephrotic syndrome]. 38
15059485 2004
308
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. 38
14675423 2004
309
Early glomerular filtration defect and severe renal disease in podocin-deficient mice. 38
14701729 2004
310
Racial and ethnic differences in the incidence and progression of focal segmental glomerulosclerosis in children. 38
14730545 2004
311
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. 38
14570703 2003
312
In situ evaluation of podocin in normal and glomerular diseases. 38
14633131 2003
313
Inducible podocyte-specific gene expression in transgenic mice. 38
12874453 2003
314
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis. 38
12953036 2003
315
Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. 38
12832477 2003
316
Linkage analysis of candidate loci for end-stage renal disease due to diabetic nephropathy. 38
12819328 2003
317
[A genetic viewpoint of focal glomerular sclerosis: fom genes to glomerular pathophysiology [corrected]]. 38
14523896 2003
318
Clinical, histopathologic, and genetic studies in nine families with focal segmental glomerulosclerosis. 38
12776268 2003
319
Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin. 38
12776285 2003
320
NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. 38
12687458 2003
321
Mutated podocin manifesting as CMV-associated congenital nephrotic syndrome. 38
12644922 2003
322
Intracellular mislocalization of mutant podocin and correction by chemical chaperones. 38
12649741 2003
323
The genetic basis of FSGS and steroid-resistant nephrosis. 38
12704574 2003
324
WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis. 38
12608558 2003
325
NEPH1 defines a novel family of podocin interacting proteins. 38
12424224 2003
326
Podocyte-specific expression of cre recombinase in transgenic mice. 38
12481297 2003
327
The mouse Kreisler (Krml1/MafB) segmentation gene is required for differentiation of glomerular visceral epithelial cells. 38
12217315 2002
328
Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome. 38
12089392 2002
329
Two gene fragments that direct podocyte-specific expression in transgenic mice. 38
12039985 2002
330
Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. 38
11956244 2002
331
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. 38
11956245 2002
332
Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease. 38
11914252 2002
333
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 38
11805166 2002
334
Podocin localizes in the kidney to the slit diaphragm area. 38
11786407 2002
335
Liver protein synthesis in physiology and in disease states. 38
11790949 2002
336
Another autosomal recessive form of focal glomerulosclerosis with neurological findings. 38
11793129 2002
337
Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. 38
11733557 2001
338
Interaction with podocin facilitates nephrin signaling. 38
11562357 2001
339
Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese. 38
11241850 2001
340
Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. 38
11158229 2001
341
A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family. 38
11139267 2001
342
Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome" 38
10802674 2000

Variations for Nephrotic Syndrome, Type 2

ClinVar genetic disease variations for Nephrotic Syndrome, Type 2:

6 (showing 87, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NPHS2 NM_014625.3(NPHS2): c.452-1G> A single nucleotide variant Pathogenic rs1060499703 1:179528897-179528897 1:179559762-179559762
2 NPHS2 NM_014625.3(NPHS2): c.104dup (p.Arg36fs) duplication Pathogenic rs1320543506 1:179544896-179544896 1:179575761-179575761
3 NPHS2 NM_014625.3(NPHS2): c.535-1G> T single nucleotide variant Pathogenic rs1291398331 1:179526366-179526366 1:179557231-179557231
4 NPHS2 NM_014625.3(NPHS2): c.385C> T (p.Gln129Ter) single nucleotide variant Pathogenic rs755972674 1:179530490-179530490 1:179561355-179561355
5 NPHS2 NM_014625.3(NPHS2): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs1462028977 1:179544789-179544789 1:179575654-179575654
6 NPHS2 NM_014625.3(NPHS2): c.378+1G> A single nucleotide variant Pathogenic rs762631237 1:179533824-179533824 1:179564689-179564689
7 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 1:179530463-179530463 1:179561328-179561328
8 NPHS2 NPHS2, 1-BP DEL, 419G deletion Pathogenic
9 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 1:179544726-179544726 1:179575591-179575591
10 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 1:179528869-179528869 1:179559734-179559734
11 NPHS2 NM_014625.3(NPHS2): c.353C> T (p.Pro118Leu) single nucleotide variant Pathogenic rs869025495 1:179533850-179533850 1:179564715-179564715
12 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 1:179521799-179521799 1:179552664-179552664
13 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 1:179544885-179544885 1:179575750-179575750
14 NPHS2 NM_014625.3(NPHS2): c.929A> T (p.Glu310Val) single nucleotide variant Pathogenic 1:179520531-179520531 1:179551396-179551396
15 NPHS2 NM_014625.3(NPHS2): c.823dup (p.Gln275fs) duplication Pathogenic 1:179521788-179521788 1:179552653-179552653
16 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 1:179528845-179528845 1:179559710-179559710
17 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic rs200482683 1:179521743-179521743 1:179552608-179552608
18 NPHS2 NM_014625.3(NPHS2): c.948del (p.Ala317fs) deletion Pathogenic/Likely pathogenic rs775170915 1:179520512-179520512 1:179551377-179551377
19 NPHS2 NM_014625.3(NPHS2): c.855_856del (p.Arg286fs) deletion Pathogenic/Likely pathogenic rs749740335 1:179521755-179521756 1:179552620-179552621
20 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 1:179526362-179526362 1:179557227-179557227
21 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315348 1:179521740-179521740 1:179552605-179552605
22 NPHS2 NM_014625.3(NPHS2): c.714G> T (p.Arg238Ser) single nucleotide variant Pathogenic/Likely pathogenic rs748812981 1:179526186-179526186 1:179557051-179557051
23 NPHS2 NM_014625.3(NPHS2): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic/Likely pathogenic rs778055996 1:179526257-179526257 1:179557122-179557122
24 NPHS2 NM_014625.3(NPHS2): c.369del (p.Cys124fs) deletion Likely pathogenic rs1057516395 1:179533834-179533834 1:179564699-179564699
25 NPHS2 NM_014625.3(NPHS2): c.138_142dup (p.Ser48fs) duplication Likely pathogenic rs1057516747 1:179544858-179544862 1:179575723-179575727
26 NPHS2 NM_014625.3(NPHS2): c.95_96insTA (p.Gly33fs) insertion Likely pathogenic rs1057516880 1:179544904-179544905 1:179575769-179575770
27 NPHS2 NM_014625.3(NPHS2): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1057516680 1:179544997-179544997 1:179575862-179575862
28 NPHS2 NM_014625.3(NPHS2): c.1062dup (p.Asn355fs) duplication Likely pathogenic rs1057516900 1:179520398-179520398 1:179551263-179551263
29 NPHS2 NM_014625.3(NPHS2): c.964C> T (p.Arg322Ter) single nucleotide variant Likely pathogenic rs763818901 1:179520496-179520496 1:179551361-179551361
30 NPHS2 NM_014625.3(NPHS2): c.890C> T (p.Ala297Val) single nucleotide variant Likely pathogenic rs199506378 1:179520570-179520570 1:179551435-179551435
31 NPHS2 NM_014625.3(NPHS2): c.859C> T (p.Gln287Ter) single nucleotide variant Likely pathogenic rs1057517164 1:179521752-179521752 1:179552617-179552617
32 NPHS2 NM_014625.3(NPHS2): c.795-1G> A single nucleotide variant Likely pathogenic rs1057516523 1:179521817-179521817 1:179552682-179552682
33 NPHS2 NM_014625.3(NPHS2): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic rs1057516414 1:179526215-179526215 1:179557080-179557080
34 NPHS2 NM_014625.3(NPHS2): c.874-1G> A single nucleotide variant Likely pathogenic rs776016942 1:179520587-179520587 1:179551452-179551452
35 NPHS2 NM_014625.3(NPHS2): c.874-2A> C single nucleotide variant Likely pathogenic rs1031744496 1:179520588-179520588 1:179551453-179551453
36 NPHS2 NM_014625.3(NPHS2): c.156del (p.Thr53fs) deletion Likely pathogenic rs1272948499 1:179544844-179544844 1:179575709-179575709
37 NPHS2 NM_014625.3(NPHS2): c.738+2T> C single nucleotide variant Likely pathogenic rs1212702104 1:179526160-179526160 1:179557025-179557025
38 NPHS2 NM_014625.3(NPHS2): c.249del (p.Leu84fs) deletion Likely pathogenic rs1553316575 1:179544750-179544751 1:179575616-179575616
39 NPHS2 NM_014625.3(NPHS2): c.873+1G> A single nucleotide variant Likely pathogenic rs1553312833 1:179521737-179521737 1:179552602-179552602
40 NPHS2 NM_014625.3(NPHS2): c.873+2T> A single nucleotide variant Likely pathogenic rs967339926 1:179521736-179521736 1:179552601-179552601
41 NPHS2 NM_014625.3(NPHS2): c.862G> A (p.Ala288Thr) single nucleotide variant Likely pathogenic rs1490010141 1:179521749-179521749 1:179552614-179552614
42 NPHS2 NM_014625.3(NPHS2): c.166G> T (p.Glu56Ter) single nucleotide variant Likely pathogenic rs1167223941 1:179544834-179544834 1:179575699-179575699
43 NPHS2 NM_014625.3(NPHS2): c.275-2A> G single nucleotide variant Likely pathogenic rs1553315173 1:179533930-179533930 1:179564795-179564795
44 NPHS2 NM_014625.3(NPHS2): c.102delinsGG (p.Arg36fs) indel Likely pathogenic rs1553316648 1:179544897-179544898 1:179575763-179575763
45 NPHS2 NM_014625.3(NPHS2): c.166dup (p.Glu56fs) duplication Likely pathogenic rs1553316611 1:179544833-179544833 1:179575699-179575699
46 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 1:179526314-179526314 1:179557179-179557179
47 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 1:179528846-179528846 1:179559711-179559711
48 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 1:179530422-179530422 1:179561287-179561287
49 NPHS2 NM_014625.3(NPHS2): c.479A> T (p.Asp160Val) single nucleotide variant Likely pathogenic 1:179528869-179528869 1:179559734-179559734
50 NPHS2 NM_014625.3(NPHS2): c.167del (p.Glu56fs) deletion Likely pathogenic 1:179544833-179544833 1:179575698-179575698
51 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61747728 1:179526214-179526214 1:179557079-179557079
52 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 1:179530462-179530462 1:179561327-179561327
53 NPHS2 NM_014625.3(NPHS2): c.467dup (p.Leu156fs) duplication Conflicting interpretations of pathogenicity rs528833893 1:179528880-179528880 1:179559746-179559746
54 NPHS2 NM_014625.3(NPHS2): c.790G> C (p.Glu264Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs369697947 1:179523615-179523615 1:179554480-179554480
55 NPHS2 NM_014625.3(NPHS2): c.779T> A (p.Val260Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs775006954 1:179523626-179523626 1:179554491-179554491
56 NPHS2 NM_014625.3(NPHS2): c.795-12T> G single nucleotide variant Uncertain significance rs376637418 1:179521828-179521828 1:179552693-179552693
57 NPHS2 NM_014625.3(NPHS2): c.934C> G (p.Leu312Val) single nucleotide variant Uncertain significance rs1553312393 1:179520526-179520526 1:179551391-179551391
58 NPHS2 NM_014625.3(NPHS2): c.372C> G (p.Cys124Trp) single nucleotide variant Uncertain significance rs139290621 1:179533831-179533831 1:179564696-179564696
59 NPHS2 NM_014625.3(NPHS2): c.191_193TGG[1] (p.Val65del) short repeat Uncertain significance rs1553316600 1:179544803-179544806 1:179575669-179575671
60 NPHS2 NM_014625.3(NPHS2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs138545216 1:179526229-179526229 1:179557094-179557094
61 NPHS2 NM_014625.3(NPHS2): c.523C> T (p.Pro175Ser) single nucleotide variant Uncertain significance rs1472510122 1:179528825-179528825 1:179559690-179559690
62 NPHS2 NM_014625.3(NPHS2): c.770G> A (p.Gly257Glu) single nucleotide variant Uncertain significance rs1553313479 1:179523635-179523635 1:179554500-179554500
63 NPHS2 NM_014625.3(NPHS2): c.631T> A (p.Ser211Thr) single nucleotide variant Uncertain significance rs779736229 1:179526269-179526269 1:179557134-179557134
64 NPHS2 NM_014625.3(NPHS2): c.695C> T (p.Thr232Ile) single nucleotide variant Uncertain significance rs774199987 1:179526205-179526205 1:179557070-179557070
65 NPHS2 NM_014625.3(NPHS2): c.1012_1023del (p.Val338_Pro341del) deletion Uncertain significance rs1553312282 1:179520436-179520448 1:179551302-179551313
66 NPHS2 NM_014625.3(NPHS2): c.1129_1134del (p.Lys377_Lys378del) deletion Uncertain significance rs1553312159 1:179520325-179520331 1:179551191-179551196
67 NPHS2 NM_014625.3(NPHS2): c.979C> T (p.Leu327Phe) single nucleotide variant Uncertain significance rs748203170 1:179520481-179520481 1:179551346-179551346
68 NPHS2 NM_014625.3(NPHS2): c.872G> A (p.Arg291Gln) single nucleotide variant Uncertain significance rs751767084 1:179521739-179521739 1:179552604-179552604
69 NPHS2 NM_014625.3(NPHS2): c.965G> A (p.Arg322Gln) single nucleotide variant Uncertain significance rs776859868 1:179520495-179520495 1:179551360-179551360
70 NPHS2 NM_014625.3(NPHS2): c.67_69del (p.Glu23del) deletion Uncertain significance rs1398961188 1:179544930-179544933 1:179575796-179575798
71 NPHS2 NM_014625.3(NPHS2): c.85G> A (p.Ala29Thr) single nucleotide variant Uncertain significance rs561887984 1:179544915-179544915 1:179575780-179575780
72 NPHS2 NM_014625.3(NPHS2): c.7_9AGG[1] (p.Arg4del) short repeat Uncertain significance rs1553316672 1:179544987-179544990 1:179575853-179575855
73 NPHS2 NM_014625.3(NPHS2): c.88G> A (p.Glu30Lys) single nucleotide variant Uncertain significance rs1477180313 1:179544912-179544912 1:179575777-179575777
74 NPHS2 NM_014625.3(NPHS2): c.622G> A (p.Ala208Thr) single nucleotide variant Uncertain significance rs200587413 1:179526278-179526278 1:179557143-179557143
75 NPHS2 NM_014625.3(NPHS2): c.451+22dup duplication Likely benign rs748179295 1:179530401-179530401 1:179561267-179561267
76 NPHS2 NM_014625.3(NPHS2): c.124G> A (p.Gly42Arg) single nucleotide variant Likely benign rs559836164 1:179544876-179544876 1:179575741-179575741
77 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 1:179545050-179545050 1:179575915-179575915
78 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 1:179545051-179545051 1:179575916-179575916
79 NPHS2 NM_144696.6(AXDND1): c.3032-3597T> C single nucleotide variant Likely benign rs2274622 1:179520050-179520050 1:179550915-179550915
80 NPHS2 NM_144696.6(AXDND1): c.3032-3539C> T single nucleotide variant Likely benign rs2274623 1:179520108-179520108 1:179550973-179550973
81 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 1:179520422-179520422 1:179551287-179551287
82 NPHS2 NM_014625.3(NPHS2): c.954C> T (p.Ala318=) single nucleotide variant Benign/Likely benign rs1410592 1:179520506-179520506 1:179551371-179551371
83 NPHS2 NM_014625.3(NPHS2): c.288C> T (p.Ser96=) single nucleotide variant Benign/Likely benign rs3738423 1:179533915-179533915 1:179564780-179564780
84 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Benign/Likely benign rs74315344 1:179544941-179544941 1:179575806-179575806
85 NPHS2 NM_014625.3(NPHS2): c.102A> G (p.Gly34=) single nucleotide variant Benign rs1079292 1:179544898-179544898 1:179575763-179575763
86 NPHS2 NM_144696.6(AXDND1): c.3032-3767T> C single nucleotide variant Benign rs1060775 1:179519880-179519880 1:179550745-179550745
87 NPHS2 NM_144696.6(AXDND1): c.3032-3496C> T single nucleotide variant Benign rs1410590 1:179520151-179520151 1:179551016-179551016

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 2:

74 (showing 51, show less)
# Symbol AA change Variation ID SNP ID
1 NPHS2 p.Gly92Cys VAR_010232 rs74315345
2 NPHS2 p.Arg138Gln VAR_010233 rs74315342
3 NPHS2 p.Asp160Gly VAR_010234 rs74315346
4 NPHS2 p.Val180Met VAR_010235 rs74315347
5 NPHS2 p.Arg291Trp VAR_010236 rs74315348
6 NPHS2 p.Ala29Thr VAR_071212 rs561887984
7 NPHS2 p.Leu107Pro VAR_071217
8 NPHS2 p.Thr116Pro VAR_071218
9 NPHS2 p.Pro118Leu VAR_071219 rs869025495
10 NPHS2 p.Trp122Ser VAR_071220 rs750332447
11 NPHS2 p.Arg168Cys VAR_071221 rs786204583
12 NPHS2 p.Arg168His VAR_071222 rs530318579
13 NPHS2 p.Arg168Ser VAR_071223
14 NPHS2 p.Pro175Val VAR_071225
15 NPHS2 p.Asp183Tyr VAR_071226
16 NPHS2 p.Ala208Thr VAR_071228 rs200587413
17 NPHS2 p.Thr221Ile VAR_071229
18 NPHS2 p.Arg229Gln VAR_071230 rs61747728
19 NPHS2 p.Arg238Ser VAR_071233 rs748812981
20 NPHS2 p.Val260Glu VAR_071235 rs775006954
21 NPHS2 p.Glu281Ala VAR_071237
22 NPHS2 p.Glu281Lys VAR_071238
23 NPHS2 p.Val290Met VAR_071239 rs200482683
24 NPHS2 p.Glu296Lys VAR_071240
25 NPHS2 p.Ala309Val VAR_071241
26 NPHS2 p.Arg3Gly VAR_072134
27 NPHS2 p.Arg18Thr VAR_072135
28 NPHS2 p.Arg26Met VAR_072136
29 NPHS2 p.Lys28Met VAR_072137 rs134019594
30 NPHS2 p.Glu30Lys VAR_072138 rs147718031
31 NPHS2 p.Glu30Gln VAR_072139
32 NPHS2 p.Gln39Leu VAR_072140
33 NPHS2 p.Pro89Thr VAR_072141
34 NPHS2 p.Met115Thr VAR_072142
35 NPHS2 p.Trp122Leu VAR_072143 rs750332447
36 NPHS2 p.Cys124Trp VAR_072144
37 NPHS2 p.Lys126Asn VAR_072145
38 NPHS2 p.Leu139Arg VAR_072146 rs134526081
39 NPHS2 p.Leu142Pro VAR_072147 rs12240233
40 NPHS2 p.Ile192Val VAR_072148
41 NPHS2 p.Ser211Ala VAR_072149
42 NPHS2 p.Ala213Thr VAR_072150
43 NPHS2 p.Val218Gly VAR_072151
44 NPHS2 p.His228Asp VAR_072152
45 NPHS2 p.Arg229Leu VAR_072153
46 NPHS2 p.Asp267Asn VAR_072154
47 NPHS2 p.Val268Leu VAR_072155
48 NPHS2 p.His276Leu VAR_072156
49 NPHS2 p.Arg322Gln VAR_072158 rs776859868
50 NPHS2 p.Pro341Ser VAR_072159 rs121404767
51 NPHS2 p.Val370Gly VAR_072160

Expression for Nephrotic Syndrome, Type 2

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 2.

Pathways for Nephrotic Syndrome, Type 2

GO Terms for Nephrotic Syndrome, Type 2

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