NPHS2
MCID: NPH049
MIFTS: 42

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 58 13 41
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 58 74
Nephrotic Syndrome Type 2 12 15
Nphs2 58 76
Srn1 58 76
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; Srn1 58
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome 12
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome 76
Nephrotic Syndrome, Type 2, Susceptibility to 6
Idiopathic Nephrotic Syndrome 74
Nephrotic Syndrome 2 76
Srn 76

Characteristics:

OMIM:

58
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:

33
nephrotic syndrome, type 2:
Onset and clinical course variable expressivity rapidly progressive juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 2

OMIM : 58 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 Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, 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 : 76 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 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

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

(showing 43, show less)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, idiopathic, steroid-resistant 31.7 AXDND1 NPHS2
2 focal segmental glomerulosclerosis 11.7
3 glomerulonephritis 11.5
4 iga glomerulonephritis 11.5
5 wilms tumor 1 11.5
6 nephrotic syndrome, type 1 11.5
7 lipoid nephrosis 11.5
8 familial nephrotic syndrome 11.4
9 nail-patella syndrome 11.2
10 membranous nephropathy 11.2
11 kidney disease 11.2
12 frasier syndrome 11.2
13 denys-drash syndrome 11.2
14 chronic kidney failure 11.2
15 end stage renal failure 11.2
16 galloway-mowat syndrome 11.2
17 nephrosclerosis 11.2
18 crescentic glomerulonephritis 11.2
19 coenzyme q10 deficiency, primary, 6 11.1
20 hypoparathyroidism, sensorineural deafness, and renal disease 11.1
21 pierson syndrome 11.1
22 atrial septal defect 3 11.1
23 urinary system disease 11.1
24 discrete subaortic stenosis 11.1
25 subvalvular aortic stenosis 11.1
26 kidney hypertrophy 11.1
27 diffuse mesangial sclerosis 11.1
28 nephrotic syndrome, type 6 10.9
29 sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.9
30 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.9
31 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.9
32 focal segmental glomerulosclerosis 1 10.6
33 chronic interstitial cystitis 10.3
34 childhood absence epilepsy 10.1
35 chromophobe renal cell carcinoma 10.1
36 renal oncocytoma 10.1
37 polycystic kidney disease 10.1
38 wilms tumor 5 10.0
39 wilms tumor 6 10.0
40 henoch-schoenlein purpura 10.0
41 purpura 10.0
42 amyloidosis 10.0
43 nephrotic syndrome 9.8

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:

33 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 proteinuria 33 HP:0000093
2 edema 33 HP:0000969
3 nephrotic syndrome 33 HP:0000100
4 hyperlipidemia 33 HP:0003077
5 stage 5 chronic kidney disease 33 HP:0003774
6 hypoalbuminemia 33 HP:0003073
7 focal segmental glomerulosclerosis 33 HP:0000097

Symptoms via clinical synopsis from OMIM:

58
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 65, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2 302-25-0
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
4
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
5
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2 2921-57-5
6
Prednisone Approved, Vet_approved Phase 4,Phase 3,Not Applicable 53-03-2 5865
7
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
8
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
9
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2 2920-86-7
10 Methylprednisolone Acetate Phase 4,Phase 3,Phase 2
11 Prednisolone acetate Phase 4,Phase 3,Phase 2
12 Immunologic Factors Phase 4,Phase 2,Phase 3
13 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
14 Vaccines Phase 4
15 Cyclosporins Phase 4
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Not Applicable
17 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
18 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Not Applicable
19 glucocorticoids Phase 4,Phase 3,Not Applicable
20 Hormones Phase 4,Phase 3,Phase 1,Not Applicable
21 Hormone Antagonists Phase 4,Phase 3,Phase 1,Not Applicable
22 Calcineurin Inhibitors Phase 4,Phase 2,Phase 3
23 Antirheumatic Agents Phase 4,Phase 2,Phase 3
24 Antibodies Phase 4,Phase 2,Phase 3
25 Antineoplastic Agents, Immunological Phase 4,Phase 2,Phase 3
26 Immunoglobulins Phase 4,Phase 2,Phase 3
27 Antitubercular Agents Phase 4,Phase 3
28 Antibiotics, Antitubercular Phase 4,Phase 3
29 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
30 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
31 Anti-Bacterial Agents Phase 4,Phase 3
32
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
33
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
34 Antineoplastic Agents, Alkylating Phase 3
35 Alkylating Agents Phase 3
36 Psychotropic Drugs Phase 2, Phase 3
37 Neurotransmitter Agents Phase 2, Phase 3
38 Antimanic Agents Phase 2, Phase 3
39 Central Nervous System Depressants Phase 2, Phase 3
40 Tranquilizing Agents Phase 2, Phase 3
41 Anticonvulsants Phase 2, Phase 3
42 GABA Agents Phase 2, Phase 3
43 Peripheral Nervous System Agents Phase 3,Phase 2
44 Gastrointestinal Agents Phase 3
45 Antiemetics Phase 3
46 Autonomic Agents Phase 3
47 Protective Agents Phase 3
48 Neuroprotective Agents Phase 3
49 Antiparasitic Agents Phase 3
50 Adjuvants, Immunologic Phase 3
51 Anthelmintics Phase 3
52
Cetirizine Approved Phase 2 83881-51-0 2678
53
ofatumumab Approved Phase 2 679818-59-8 6918251
54
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
55 Antibodies, Monoclonal Phase 2
56 Anti-HIV Agents Phase 1, Phase 2
57 Antiviral Agents Phase 1, Phase 2
58 Anti-Retroviral Agents Phase 1, Phase 2
59 Adrenocorticotropic Hormone Phase 1
60 Melanocyte-Stimulating Hormones Phase 1
61 beta-endorphin Phase 1
62
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
63 interferons
64 Dermatologic Agents
65 Antifungal Agents

Interventional clinical trials:

(showing 34, show less)
# Name Status NCT ID Phase Drugs
1 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
3 Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome Completed NCT01895894 Phase 4 Mycophenolate mofetil
4 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
5 Adjusted Steroids Therapy in Childerens With Idiopathic Nephrotic Syndrome Not yet recruiting NCT02649413 Phase 4 Prednisone
6 Steroid Sensitive Nephrotic Syndrome in Children Not yet recruiting NCT03878914 Phase 4 Corticosteroids
7 Efficacy of Rituximab For the Treatment of Calcineurin Inhibitors Dependent Nephrotic Syndrome During Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
8 Cyclophosphamide Versus Mycophenolate Mofetil for the Treatment of Steroid-dependent Nephrotic Syndrome in Children Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
9 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Recruiting NCT03298698 Phase 3 Rituximab;Prednisone
10 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
11 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
12 Prednisolone Trial in Children Younger Than 4 Years Recruiting NCT03141970 Phase 3 Prednisolone
13 Efficiency of Levamisole for Maintaining Remission After the First Flare of Steroid Sensitive Nephrotic Syndrome in Children Recruiting NCT02818738 Phase 3 Levamisole Hydrochloride
14 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
15 Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome Unknown status NCT02394119 Phase 2 Ofatumumab;Rituximab
16 Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome Unknown status NCT02394106 Phase 2 Ofatumumab
17 IL-2 for Multi Drug Resistant Nephrotic Syndrome Completed NCT02455908 Phase 1, Phase 2 Proleukin®
18 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
19 Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) Unknown status NCT02382874 Phase 1
20 Dose-Finding Pilot Study of ACTH in Patients With Idiopathic Membranous Nephropathy Completed NCT00805753 Phase 1 ACTH
21 Glucocorticoid in Treatment of Adult Idiopathic Nephrotic Syndrome:a Prospective Observational Study Unknown status NCT02298335 Not Applicable prednisone
22 Steroid Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT01386957
23 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
24 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910
25 Latent Viral Infection of Lymphoid Cells in Idiopathic Nephrotic Syndrome Completed NCT00577525
26 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
27 Pharmacokinetics of Cyclosporin in Nephrotic Syndrome Completed NCT01616446
28 Kidney Disease Biomarkers Completed NCT00255398
29 Steroid-Induced Osteoporosis in the Pediatric Population - Canadian Incidence Study Completed NCT01663129
30 The FOrMe Registry (The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry) Recruiting NCT03949972
31 Diagnostic and Prognostic Value of Miss-1 Study in Children and Adult With Nephrotic Syndrome MISSNEPHROTIQUE Recruiting NCT03592030
32 Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East Active, not recruiting NCT03326037
33 Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis Terminated NCT00883636
34 The Inova Type 2 Diabetes Mellitus Study Withdrawn NCT02222623 Not Applicable Glargine;NPH

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:

42
Kidney

Publications for Nephrotic Syndrome, Type 2

Articles related to Nephrotic Syndrome, Type 2:

(showing 113, show less)
# Title Authors Year
1
NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis. ( 30793612 )
2019
2
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling. ( 30241959 )
2019
3
Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant. ( 30777632 )
2019
4
In Reply to 'Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant'. ( 30777635 )
2019
5
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. ( 30013592 )
2018
6
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children. ( 30450462 )
2018
7
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. ( 29663071 )
2018
8
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. ( 30260545 )
2018
9
R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome. ( 28529802 )
2017
10
Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children. ( 28712774 )
2017
11
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. ( 27885584 )
2017
12
Erratum to: Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. ( 27465543 )
2017
13
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. ( 27573339 )
2017
14
Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. ( 26820844 )
2017
15
NPHS2 Mutations: A Closer Look to Latin American Countries. ( 28785586 )
2017
16
Post-Transplant Recurrence of Focal Segmental Glomerulosclerosis in a Child With Heterozygous Mutations in NPHS1 and NPHS2. ( 27312921 )
2016
17
NPHS2 mutations account for only 15% of nephrotic syndrome cases. ( 26420286 )
2015
18
Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family. ( 25143137 )
2015
19
Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. ( 25599733 )
2015
20
Integration of Cistromic and Transcriptomic Analyses Identifies Nphs2, Mafb, and Magi2 as Wilms' Tumor 1 Target Genes in Podocyte Differentiation and Maintenance. ( 25556170 )
2015
21
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. ( 24715228 )
2014
22
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. ( 24856380 )
2014
23
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. ( 25852895 )
2014
24
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. ( 24509478 )
2014
25
NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: is it responsive to immunosuppressive therapy? ( 24519673 )
2014
26
NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians. ( 24674236 )
2014
27
Re: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in south-west Iranian children. ( 24878955 )
2014
28
NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome. ( 25112471 )
2014
29
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. ( 24227627 )
2014
30
mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis. ( 24969201 )
2014
31
Hsf-1 affects podocyte markers NPHS1, NPHS2 and WT1 in a transgenic mouse model of TTRVal30Met-related amyloidosis. ( 23829269 )
2013
32
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. ( 23800802 )
2013
33
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. ( 24072147 )
2013
34
R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study. ( 24072153 )
2013
35
CD80, suPAR and nephrotic syndrome in a case of NPHS2 mutation. ( 24089165 )
2013
36
Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. ( 23913389 )
2013
37
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. ( 23242530 )
2013
38
Does NPHS1 polymorphism modulate P118l mutation in NPHS2? ( 24231487 )
2013
39
Familial focal segmental glomerulosclerosis (FSGS) in a Nigerian family and exclusion of mutations in NPHS2,WT1 and APOL1. ( 23468032 )
2012
40
NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. ( 23013956 )
2012
41
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. ( 22565185 )
2012
42
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. ( 22578956 )
2012
43
NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. ( 22080622 )
2012
44
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. ( 22228437 )
2012
45
Foothold of NPHS2 mutations in primary nephrotic syndrome. ( 22120861 )
2011
46
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. ( 21697813 )
2011
47
Disruption of PTPRO causes childhood-onset nephrotic syndrome. ( 21722858 )
2011
48
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. ( 20947785 )
2011
49
Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. ( 21355056 )
2011
50
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. ( 21171529 )
2010
51
A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family. ( 25949463 )
2010
52
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. ( 20001346 )
2009
53
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. ( 19371226 )
2009
54
NPHS2 mutations in children with steroid-resistant nephrotic syndrome. ( 19395786 )
2009
55
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. ( 19406966 )
2009
56
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation. ( 19495806 )
2009
57
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. ( 19145239 )
2009
58
The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. ( 19562271 )
2009
59
Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy. ( 20025681 )
2009
60
Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation. ( 18208440 )
2008
61
NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome. ( 18392643 )
2008
62
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. ( 18543005 )
2008
63
WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. ( 17934764 )
2008
64
Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome. ( 18000687 )
2008
65
NPHS2 mutations. ( 18334793 )
2008
66
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. ( 18726620 )
2008
67
NPHS2 variation in focal and segmental glomerulosclerosis. ( 18823551 )
2008
68
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. ( 17699384 )
2007
69
NPHS2 variation in sporadic focal segmental glomerulosclerosis. ( 17942957 )
2007
70
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. ( 17899208 )
2007
71
Novel human pathological mutations. Gene symbol: NPHS2. Disease: steroid-resistant nephrotic syndrome. ( 18380020 )
2007
72
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. ( 17109732 )
2007
73
NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. ( 17211152 )
2007
74
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. ( 17216259 )
2007
75
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). ( 17371932 )
2007
76
Lack of association between NPHS2 gene polymorphisms and sporadic IgA nephropathy. ( 17635752 )
2007
77
Lack of cardiac anomalies in children with NPHS2 mutations. ( 17218332 )
2007
78
Lack of association between NPHS2 gene polymorphisms and Henoch-Schönlein purpura nephritis. ( 17393177 )
2007
79
NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. ( 16481888 )
2006
80
Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. ( 16721582 )
2006
81
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. ( 16874699 )
2006
82
Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome. ( 16572591 )
2006
83
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. ( 16810518 )
2006
84
Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases. ( 16900088 )
2006
85
Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. ( 15627790 )
2005
86
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. ( 15769810 )
2005
87
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. ( 15780077 )
2005
88
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. ( 15817495 )
2005
89
Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. ( 15954915 )
2005
90
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. ( 15338398 )
2004
91
Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria. ( 15458479 )
2004
92
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. ( 15496146 )
2004
93
A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome. ( 15504144 )
2004
94
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. ( 14675423 )
2004
95
NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. ( 14871423 )
2004
96
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. ( 14978175 )
2004
97
NPHS2 mutation associated with recurrence of proteinuria after transplantation. ( 15015071 )
2004
98
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. ( 15253708 )
2004
99
Three siblings with steroid-resistant nephrotic syndrome: new NPHS2 mutations in a Turkish family. ( 15264208 )
2004
100
A novel mutation of NPHS2 identified in a Chinese family. ( 15322893 )
2004
101
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. ( 15327385 )
2004
102
WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis. ( 12608558 )
2003
103
NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. ( 12687458 )
2003
104
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. ( 14570703 )
2003
105
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. ( 12464671 )
2002
106
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. ( 11805166 )
2002
107
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. ( 11805168 )
2002
108
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. ( 11854170 )
2002
109
Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome. ( 12089392 )
2002
110
A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family. ( 11139267 )
2001
111
Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese. ( 11241850 )
2001
112
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. ( 10742096 )
2000
113
Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome" ( 10802674 )
2000

Variations for Nephrotic Syndrome, Type 2

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

76 (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

ClinVar genetic disease variations for Nephrotic Syndrome, Type 2:

6 (showing 167, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 GRCh37 Chromosome 1, 179530462: 179530462
2 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 GRCh38 Chromosome 1, 179561327: 179561327
3 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh37 Chromosome 1, 179530463: 179530463
4 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh38 Chromosome 1, 179561328: 179561328
5 NPHS2 NPHS2, 1-BP DEL, 419G deletion Pathogenic
6 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315344 GRCh37 Chromosome 1, 179544941: 179544941
7 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315344 GRCh38 Chromosome 1, 179575806: 179575806
8 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh37 Chromosome 1, 179544726: 179544726
9 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh38 Chromosome 1, 179575591: 179575591
10 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh37 Chromosome 1, 179528869: 179528869
11 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh38 Chromosome 1, 179559734: 179559734
12 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh37 Chromosome 1, 179526362: 179526362
13 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh38 Chromosome 1, 179557227: 179557227
14 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315348 GRCh37 Chromosome 1, 179521740: 179521740
15 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315348 GRCh38 Chromosome 1, 179552605: 179552605
16 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh37 Chromosome 1, 179526214: 179526214
17 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh38 Chromosome 1, 179557079: 179557079
18 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh37 Chromosome 1, 179521743: 179521743
19 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh38 Chromosome 1, 179552608: 179552608
20 NPHS2 NM_014625.3(NPHS2): c.948del (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh38 Chromosome 1, 179551377: 179551377
21 NPHS2 NM_014625.3(NPHS2): c.948del (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh37 Chromosome 1, 179520512: 179520512
22 NPHS2 NM_014625.3(NPHS2): c.855_856del (p.Arg286Thrfs) deletion Pathogenic/Likely pathogenic rs749740335 GRCh37 Chromosome 1, 179521755: 179521756
23 NPHS2 NM_014625.3(NPHS2): c.855_856del (p.Arg286Thrfs) deletion Pathogenic/Likely pathogenic rs749740335 GRCh38 Chromosome 1, 179552620: 179552621
24 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh38 Chromosome 1, 179557179: 179557179
25 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh37 Chromosome 1, 179526314: 179526314
26 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh37 Chromosome 1, 179528845: 179528845
27 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh38 Chromosome 1, 179559710: 179559710
28 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh38 Chromosome 1, 179559711: 179559711
29 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh37 Chromosome 1, 179528846: 179528846
30 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh38 Chromosome 1, 179561287: 179561287
31 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh37 Chromosome 1, 179530422: 179530422
32 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh37 Chromosome 1, 179519880: 179519880
33 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh38 Chromosome 1, 179550745: 179550745
34 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh37 Chromosome 1, 179520050: 179520050
35 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh38 Chromosome 1, 179550915: 179550915
36 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh38 Chromosome 1, 179550973: 179550973
37 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh37 Chromosome 1, 179520108: 179520108
38 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh37 Chromosome 1, 179520151: 179520151
39 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh38 Chromosome 1, 179551016: 179551016
40 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh38 Chromosome 1, 179552664: 179552664
41 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh37 Chromosome 1, 179521799: 179521799
42 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh37 Chromosome 1, 179544885: 179544885
43 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh38 Chromosome 1, 179575750: 179575750
44 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh37 Chromosome 1, 179545050: 179545050
45 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh38 Chromosome 1, 179575915: 179575915
46 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh37 Chromosome 1, 179545051: 179545051
47 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh38 Chromosome 1, 179575916: 179575916
48 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh38 Chromosome 1, 179551287: 179551287
49 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh37 Chromosome 1, 179520422: 179520422
50 NPHS2 NM_014625.3(NPHS2): c.954C> T (p.Ala318=) single nucleotide variant Benign/Likely benign rs1410592 GRCh37 Chromosome 1, 179520506: 179520506
51 NPHS2 NM_014625.3(NPHS2): c.954C> T (p.Ala318=) single nucleotide variant Benign/Likely benign rs1410592 GRCh38 Chromosome 1, 179551371: 179551371
52 NPHS2 NM_014625.3(NPHS2): c.288C> T (p.Ser96=) single nucleotide variant Benign/Likely benign rs3738423 GRCh37 Chromosome 1, 179533915: 179533915
53 NPHS2 NM_014625.3(NPHS2): c.288C> T (p.Ser96=) single nucleotide variant Benign/Likely benign rs3738423 GRCh38 Chromosome 1, 179564780: 179564780
54 NPHS2 NM_014625.3(NPHS2): c.102A> G (p.Gly34=) single nucleotide variant Benign rs1079292 GRCh38 Chromosome 1, 179575763: 179575763
55 NPHS2 NM_014625.3(NPHS2): c.102A> G (p.Gly34=) single nucleotide variant Benign rs1079292 GRCh37 Chromosome 1, 179544898: 179544898
56 NPHS2 NM_014625.3(NPHS2): c.1062dup (p.Asn355Glnfs) duplication Likely pathogenic rs1057516900 GRCh37 Chromosome 1, 179520398: 179520398
57 NPHS2 NM_014625.3(NPHS2): c.1062dup (p.Asn355Glnfs) duplication Likely pathogenic rs1057516900 GRCh38 Chromosome 1, 179551263: 179551263
58 NPHS2 NM_014625.3(NPHS2): c.964C> T (p.Arg322Ter) single nucleotide variant Likely pathogenic rs763818901 GRCh37 Chromosome 1, 179520496: 179520496
59 NPHS2 NM_014625.3(NPHS2): c.964C> T (p.Arg322Ter) single nucleotide variant Likely pathogenic rs763818901 GRCh38 Chromosome 1, 179551361: 179551361
60 NPHS2 NM_014625.3(NPHS2): c.890C> T (p.Ala297Val) single nucleotide variant Likely pathogenic rs199506378 GRCh37 Chromosome 1, 179520570: 179520570
61 NPHS2 NM_014625.3(NPHS2): c.890C> T (p.Ala297Val) single nucleotide variant Likely pathogenic rs199506378 GRCh38 Chromosome 1, 179551435: 179551435
62 NPHS2 NM_014625.3(NPHS2): c.859C> T (p.Gln287Ter) single nucleotide variant Likely pathogenic rs1057517164 GRCh37 Chromosome 1, 179521752: 179521752
63 NPHS2 NM_014625.3(NPHS2): c.859C> T (p.Gln287Ter) single nucleotide variant Likely pathogenic rs1057517164 GRCh38 Chromosome 1, 179552617: 179552617
64 NPHS2 NM_014625.3(NPHS2): c.795-1G> A single nucleotide variant Likely pathogenic rs1057516523 GRCh37 Chromosome 1, 179521817: 179521817
65 NPHS2 NM_014625.3(NPHS2): c.795-1G> A single nucleotide variant Likely pathogenic rs1057516523 GRCh38 Chromosome 1, 179552682: 179552682
66 NPHS2 NM_014625.3(NPHS2): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic rs1057516414 GRCh38 Chromosome 1, 179557080: 179557080
67 NPHS2 NM_014625.3(NPHS2): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic rs1057516414 GRCh37 Chromosome 1, 179526215: 179526215
68 NPHS2 NM_014625.3(NPHS2): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic/Likely pathogenic rs778055996 GRCh38 Chromosome 1, 179557122: 179557122
69 NPHS2 NM_014625.3(NPHS2): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic/Likely pathogenic rs778055996 GRCh37 Chromosome 1, 179526257: 179526257
70 NPHS2 NM_014625.3(NPHS2): c.369del (p.Cys124Alafs) deletion Likely pathogenic rs1057516395 GRCh37 Chromosome 1, 179533834: 179533834
71 NPHS2 NM_014625.3(NPHS2): c.369del (p.Cys124Alafs) deletion Likely pathogenic rs1057516395 GRCh38 Chromosome 1, 179564699: 179564699
72 NPHS2 NM_014625.3(NPHS2): c.138_142dup (p.Ser48Trpfs) duplication Likely pathogenic rs1057516747 GRCh37 Chromosome 1, 179544858: 179544862
73 NPHS2 NM_014625.3(NPHS2): c.138_142dup (p.Ser48Trpfs) duplication Likely pathogenic rs1057516747 GRCh38 Chromosome 1, 179575723: 179575727
74 NPHS2 NM_014625.3(NPHS2): c.95_96insTA (p.Gly33Thrfs) insertion Likely pathogenic rs1057516880 GRCh37 Chromosome 1, 179544904: 179544905
75 NPHS2 NM_014625.3(NPHS2): c.95_96insTA (p.Gly33Thrfs) insertion Likely pathogenic rs1057516880 GRCh38 Chromosome 1, 179575769: 179575770
76 NPHS2 NM_014625.3(NPHS2): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1057516680 GRCh37 Chromosome 1, 179544997: 179544997
77 NPHS2 NM_014625.3(NPHS2): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1057516680 GRCh38 Chromosome 1, 179575862: 179575862
78 NPHS2 NM_014625.3(NPHS2): c.452-1G> A single nucleotide variant Pathogenic rs1060499703 GRCh37 Chromosome 1, 179528897: 179528897
79 NPHS2 NM_014625.3(NPHS2): c.452-1G> A single nucleotide variant Pathogenic rs1060499703 GRCh38 Chromosome 1, 179559762: 179559762
80 NPHS2 NM_014625.3(NPHS2): c.790G> C (p.Glu264Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs369697947 GRCh38 Chromosome 1, 179554480: 179554480
81 NPHS2 NM_014625.3(NPHS2): c.790G> C (p.Glu264Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs369697947 GRCh37 Chromosome 1, 179523615: 179523615
82 NPHS2 NM_014625.3(NPHS2): c.779T> A (p.Val260Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs775006954 GRCh37 Chromosome 1, 179523626: 179523626
83 NPHS2 NM_014625.3(NPHS2): c.779T> A (p.Val260Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs775006954 GRCh38 Chromosome 1, 179554491: 179554491
84 NPHS2 NM_014625.3(NPHS2): c.104dup (p.Arg36Profs) duplication Pathogenic rs1320543506 GRCh37 Chromosome 1, 179544896: 179544896
85 NPHS2 NM_014625.3(NPHS2): c.104dup (p.Arg36Profs) duplication Pathogenic rs1320543506 GRCh38 Chromosome 1, 179575761: 179575761
86 NPHS2 NM_014625.3(NPHS2): c.156del (p.Thr53Profs) deletion Likely pathogenic rs1272948499 GRCh37 Chromosome 1, 179544844: 179544844
87 NPHS2 NM_014625.3(NPHS2): c.156del (p.Thr53Profs) deletion Likely pathogenic rs1272948499 GRCh38 Chromosome 1, 179575709: 179575709
88 NPHS2 NM_014625.3(NPHS2): c.535-1G> T single nucleotide variant Pathogenic rs1291398331 GRCh37 Chromosome 1, 179526366: 179526366
89 NPHS2 NM_014625.3(NPHS2): c.535-1G> T single nucleotide variant Pathogenic rs1291398331 GRCh38 Chromosome 1, 179557231: 179557231
90 NPHS2 NM_014625.3(NPHS2): c.934C> G (p.Leu312Val) single nucleotide variant Uncertain significance rs1553312393 GRCh37 Chromosome 1, 179520526: 179520526
91 NPHS2 NM_014625.3(NPHS2): c.934C> G (p.Leu312Val) single nucleotide variant Uncertain significance rs1553312393 GRCh38 Chromosome 1, 179551391: 179551391
92 NPHS2 NM_014625.3(NPHS2): c.874-1G> A single nucleotide variant Likely pathogenic rs776016942 GRCh37 Chromosome 1, 179520587: 179520587
93 NPHS2 NM_014625.3(NPHS2): c.874-1G> A single nucleotide variant Likely pathogenic rs776016942 GRCh38 Chromosome 1, 179551452: 179551452
94 NPHS2 NM_014625.3(NPHS2): c.874-2A> C single nucleotide variant Likely pathogenic rs1031744496 GRCh37 Chromosome 1, 179520588: 179520588
95 NPHS2 NM_014625.3(NPHS2): c.874-2A> C single nucleotide variant Likely pathogenic rs1031744496 GRCh38 Chromosome 1, 179551453: 179551453
96 NPHS2 NM_014625.3(NPHS2): c.795-12T> G single nucleotide variant Uncertain significance rs376637418 GRCh37 Chromosome 1, 179521828: 179521828
97 NPHS2 NM_014625.3(NPHS2): c.795-12T> G single nucleotide variant Uncertain significance rs376637418 GRCh38 Chromosome 1, 179552693: 179552693
98 NPHS2 NM_014625.3(NPHS2): c.714G> T (p.Arg238Ser) single nucleotide variant Likely pathogenic rs748812981 GRCh37 Chromosome 1, 179526186: 179526186
99 NPHS2 NM_014625.3(NPHS2): c.714G> T (p.Arg238Ser) single nucleotide variant Likely pathogenic rs748812981 GRCh38 Chromosome 1, 179557051: 179557051
100 NPHS2 NM_014625.3(NPHS2): c.523C> T (p.Pro175Ser) single nucleotide variant Uncertain significance rs1472510122 GRCh37 Chromosome 1, 179528825: 179528825
101 NPHS2 NM_014625.3(NPHS2): c.523C> T (p.Pro175Ser) single nucleotide variant Uncertain significance rs1472510122 GRCh38 Chromosome 1, 179559690: 179559690
102 NPHS2 NM_014625.3(NPHS2): c.385C> T (p.Gln129Ter) single nucleotide variant Pathogenic rs755972674 GRCh37 Chromosome 1, 179530490: 179530490
103 NPHS2 NM_014625.3(NPHS2): c.385C> T (p.Gln129Ter) single nucleotide variant Pathogenic rs755972674 GRCh38 Chromosome 1, 179561355: 179561355
104 NPHS2 NM_014625.3(NPHS2): c.378+1G> A single nucleotide variant Pathogenic rs762631237 GRCh37 Chromosome 1, 179533824: 179533824
105 NPHS2 NM_014625.3(NPHS2): c.1012_1023del (p.Val338_Pro341del) deletion Uncertain significance rs1553312282 GRCh37 Chromosome 1, 179520436: 179520448
106 NPHS2 NM_014625.3(NPHS2): c.1012_1023del (p.Val338_Pro341del) deletion Uncertain significance rs1553312282 GRCh38 Chromosome 1, 179551302: 179551313
107 NPHS2 NM_014625.3(NPHS2): c.1129_1134del (p.Lys377_Lys378del) deletion Uncertain significance rs1553312159 GRCh37 Chromosome 1, 179520325: 179520331
108 NPHS2 NM_014625.3(NPHS2): c.1129_1134del (p.Lys377_Lys378del) deletion Uncertain significance rs1553312159 GRCh38 Chromosome 1, 179551191: 179551196
109 NPHS2 NM_014625.3(NPHS2): c.979C> T (p.Leu327Phe) single nucleotide variant Uncertain significance rs748203170 GRCh37 Chromosome 1, 179520481: 179520481
110 NPHS2 NM_014625.3(NPHS2): c.979C> T (p.Leu327Phe) single nucleotide variant Uncertain significance rs748203170 GRCh38 Chromosome 1, 179551346: 179551346
111 NPHS2 NM_014625.3(NPHS2): c.872G> A (p.Arg291Gln) single nucleotide variant Uncertain significance rs751767084 GRCh37 Chromosome 1, 179521739: 179521739
112 NPHS2 NM_014625.3(NPHS2): c.872G> A (p.Arg291Gln) single nucleotide variant Uncertain significance rs751767084 GRCh38 Chromosome 1, 179552604: 179552604
113 NPHS2 NM_014625.3(NPHS2): c.965G> A (p.Arg322Gln) single nucleotide variant Uncertain significance rs776859868 GRCh37 Chromosome 1, 179520495: 179520495
114 NPHS2 NM_014625.3(NPHS2): c.965G> A (p.Arg322Gln) single nucleotide variant Uncertain significance rs776859868 GRCh38 Chromosome 1, 179551360: 179551360
115 NPHS2 NM_014625.3(NPHS2): c.873+1G> A single nucleotide variant Likely pathogenic rs1553312833 GRCh37 Chromosome 1, 179521737: 179521737
116 NPHS2 NM_014625.3(NPHS2): c.873+1G> A single nucleotide variant Likely pathogenic rs1553312833 GRCh38 Chromosome 1, 179552602: 179552602
117 NPHS2 NM_014625.3(NPHS2): c.873+2T> A single nucleotide variant Likely pathogenic rs967339926 GRCh37 Chromosome 1, 179521736: 179521736
118 NPHS2 NM_014625.3(NPHS2): c.873+2T> A single nucleotide variant Likely pathogenic rs967339926 GRCh38 Chromosome 1, 179552601: 179552601
119 NPHS2 NM_014625.3(NPHS2): c.862G> A (p.Ala288Thr) single nucleotide variant Likely pathogenic rs1490010141 GRCh37 Chromosome 1, 179521749: 179521749
120 NPHS2 NM_014625.3(NPHS2): c.862G> A (p.Ala288Thr) single nucleotide variant Likely pathogenic rs1490010141 GRCh38 Chromosome 1, 179552614: 179552614
121 NPHS2 NM_014625.3(NPHS2): c.770G> A (p.Gly257Glu) single nucleotide variant Uncertain significance rs1553313479 GRCh37 Chromosome 1, 179523635: 179523635
122 NPHS2 NM_014625.3(NPHS2): c.770G> A (p.Gly257Glu) single nucleotide variant Uncertain significance rs1553313479 GRCh38 Chromosome 1, 179554500: 179554500
123 NPHS2 NM_014625.3(NPHS2): c.631T> A (p.Ser211Thr) single nucleotide variant Uncertain significance rs779736229 GRCh37 Chromosome 1, 179526269: 179526269
124 NPHS2 NM_014625.3(NPHS2): c.631T> A (p.Ser211Thr) single nucleotide variant Uncertain significance rs779736229 GRCh38 Chromosome 1, 179557134: 179557134
125 NPHS2 NM_014625.3(NPHS2): c.695C> T (p.Thr232Ile) single nucleotide variant Uncertain significance rs774199987 GRCh37 Chromosome 1, 179526205: 179526205
126 NPHS2 NM_014625.3(NPHS2): c.695C> T (p.Thr232Ile) single nucleotide variant Uncertain significance rs774199987 GRCh38 Chromosome 1, 179557070: 179557070
127 NPHS2 NM_014625.3(NPHS2): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs1462028977 GRCh37 Chromosome 1, 179544789: 179544789
128 NPHS2 NM_014625.3(NPHS2): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs1462028977 GRCh38 Chromosome 1, 179575654: 179575654
129 NPHS2 NM_014625.3(NPHS2): c.738+2T> C single nucleotide variant Likely pathogenic rs1212702104 GRCh37 Chromosome 1, 179526160: 179526160
130 NPHS2 NM_014625.3(NPHS2): c.738+2T> C single nucleotide variant Likely pathogenic rs1212702104 GRCh38 Chromosome 1, 179557025: 179557025
131 NPHS2 NM_014625.3(NPHS2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs138545216 GRCh37 Chromosome 1, 179526229: 179526229
132 NPHS2 NM_014625.3(NPHS2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs138545216 GRCh38 Chromosome 1, 179557094: 179557094
133 NPHS2 NM_014625.3(NPHS2): c.166G> T (p.Glu56Ter) single nucleotide variant Likely pathogenic rs1167223941 GRCh37 Chromosome 1, 179544834: 179544834
134 NPHS2 NM_014625.3(NPHS2): c.166G> T (p.Glu56Ter) single nucleotide variant Likely pathogenic rs1167223941 GRCh38 Chromosome 1, 179575699: 179575699
135 NPHS2 NM_014625.3(NPHS2): c.622G> A (p.Ala208Thr) single nucleotide variant Uncertain significance rs200587413 GRCh37 Chromosome 1, 179526278: 179526278
136 NPHS2 NM_014625.3(NPHS2): c.622G> A (p.Ala208Thr) single nucleotide variant Uncertain significance rs200587413 GRCh38 Chromosome 1, 179557143: 179557143
137 NPHS2 NM_014625.3(NPHS2): c.451+22dup duplication Likely benign rs748179295 GRCh37 Chromosome 1, 179530401: 179530401
138 NPHS2 NM_014625.3(NPHS2): c.451+22dup duplication Likely benign rs748179295 GRCh38 Chromosome 1, 179561267: 179561267
139 NPHS2 NM_014625.3(NPHS2): c.378+1G> A single nucleotide variant Pathogenic rs762631237 GRCh38 Chromosome 1, 179564689: 179564689
140 NPHS2 NM_014625.3(NPHS2): c.249del (p.Leu84Trpfs) deletion Likely pathogenic rs1553316575 GRCh37 Chromosome 1, 179544750: 179544751
141 NPHS2 NM_014625.3(NPHS2): c.249del (p.Leu84Trpfs) deletion Likely pathogenic rs1553316575 GRCh38 Chromosome 1, 179575616: 179575616
142 NPHS2 NM_014625.3(NPHS2): c.467dup (p.Leu156Phefs) duplication Conflicting interpretations of pathogenicity rs528833893 GRCh37 Chromosome 1, 179528880: 179528880
143 NPHS2 NM_014625.3(NPHS2): c.467dup (p.Leu156Phefs) duplication Conflicting interpretations of pathogenicity rs528833893 GRCh38 Chromosome 1, 179559746: 179559746
144 NPHS2 NM_014625.3(NPHS2): c.372C> G (p.Cys124Trp) single nucleotide variant Uncertain significance rs139290621 GRCh37 Chromosome 1, 179533831: 179533831
145 NPHS2 NM_014625.3(NPHS2): c.372C> G (p.Cys124Trp) single nucleotide variant Uncertain significance rs139290621 GRCh38 Chromosome 1, 179564696: 179564696
146 NPHS2 NM_014625.3(NPHS2): c.194_196del (p.Val65del) deletion Uncertain significance rs1553316600 GRCh37 Chromosome 1, 179544803: 179544806
147 NPHS2 NM_014625.3(NPHS2): c.194_196del (p.Val65del) deletion Uncertain significance rs1553316600 GRCh38 Chromosome 1, 179575669: 179575671
148 NPHS2 NM_014625.3(NPHS2): c.275-2A> G single nucleotide variant Likely pathogenic rs1553315173 GRCh37 Chromosome 1, 179533930: 179533930
149 NPHS2 NM_014625.3(NPHS2): c.275-2A> G single nucleotide variant Likely pathogenic rs1553315173 GRCh38 Chromosome 1, 179564795: 179564795
150 NPHS2 NM_014625.3(NPHS2): c.102delAinsGG (p.Arg36Profs) indel Likely pathogenic rs1553316648 GRCh37 Chromosome 1, 179544897: 179544898
151 NPHS2 NM_014625.3(NPHS2): c.102delAinsGG (p.Arg36Profs) indel Likely pathogenic rs1553316648 GRCh38 Chromosome 1, 179575763: 179575763
152 NPHS2 NM_014625.3(NPHS2): c.88G> A (p.Glu30Lys) single nucleotide variant Uncertain significance rs1477180313 GRCh37 Chromosome 1, 179544912: 179544912
153 NPHS2 NM_014625.3(NPHS2): c.88G> A (p.Glu30Lys) single nucleotide variant Uncertain significance rs1477180313 GRCh38 Chromosome 1, 179575777: 179575777
154 NPHS2 NM_014625.3(NPHS2): c.166dup (p.Glu56Glyfs) duplication Likely pathogenic rs1553316611 GRCh37 Chromosome 1, 179544833: 179544833
155 NPHS2 NM_014625.3(NPHS2): c.166dup (p.Glu56Glyfs) duplication Likely pathogenic rs1553316611 GRCh38 Chromosome 1, 179575699: 179575699
156 NPHS2 NM_014625.3(NPHS2): c.85G> A (p.Ala29Thr) single nucleotide variant Uncertain significance rs561887984 GRCh37 Chromosome 1, 179544915: 179544915
157 NPHS2 NM_014625.3(NPHS2): c.85G> A (p.Ala29Thr) single nucleotide variant Uncertain significance rs561887984 GRCh38 Chromosome 1, 179575780: 179575780
158 NPHS2 NM_014625.3(NPHS2): c.10_12del (p.Arg4del) deletion Uncertain significance rs1553316672 GRCh37 Chromosome 1, 179544987: 179544990
159 NPHS2 NM_014625.3(NPHS2): c.10_12del (p.Arg4del) deletion Uncertain significance rs1553316672 GRCh38 Chromosome 1, 179575853: 179575855
160 NPHS2 NM_014625.3(NPHS2): c.124G> A (p.Gly42Arg) single nucleotide variant Likely benign rs559836164 GRCh37 Chromosome 1, 179544876: 179544876
161 NPHS2 NM_014625.3(NPHS2): c.124G> A (p.Gly42Arg) single nucleotide variant Likely benign rs559836164 GRCh38 Chromosome 1, 179575741: 179575741
162 NPHS2 NM_014625.3(NPHS2): c.67_69del (p.Glu23del) deletion Uncertain significance rs1398961188 GRCh37 Chromosome 1, 179544930: 179544933
163 NPHS2 NM_014625.3(NPHS2): c.67_69del (p.Glu23del) deletion Uncertain significance rs1398961188 GRCh38 Chromosome 1, 179575796: 179575798
164 NPHS2 NM_014625.3(NPHS2): c.479A> T (p.Asp160Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 179528869: 179528869
165 NPHS2 NM_014625.3(NPHS2): c.479A> T (p.Asp160Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 179559734: 179559734
166 NPHS2 NM_014625.3(NPHS2): c.167del (p.Glu56Glyfs) deletion Likely pathogenic GRCh37 Chromosome 1, 179544833: 179544833
167 NPHS2 NM_014625.3(NPHS2): c.167del (p.Glu56Glyfs) deletion Likely pathogenic GRCh38 Chromosome 1, 179575698: 179575698

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

Sources for Nephrotic Syndrome, Type 2

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