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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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Nephrotic Syndrome, Type 2

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases Blood diseases Endocrine diseases Immune diseases
See all MalaCards categories (disease lists)


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Summaries for Nephrotic Syndrome, Type 2

About this section
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.

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Related Diseases for Nephrotic Syndrome, Type 2

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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:

(show all 43)
# 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
Sources

Symptoms & Phenotypes for Nephrotic Syndrome, Type 2

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Human phenotypes related to Nephrotic Syndrome, Type 2:

33 (show all 7)
# 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
Sources

Drugs & Therapeutics for Nephrotic Syndrome, Type 2

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

(show top 50) (show all 65)
# 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

Interventional clinical trials:

(show all 34)
# 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

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Genetic Tests for Nephrotic Syndrome, Type 2

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Anatomical Context for Nephrotic Syndrome, Type 2

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

42
Kidney
Sources

Publications for Nephrotic Syndrome, Type 2

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Articles related to Nephrotic Syndrome, Type 2:

(show top 50) (show all 113)
# 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
Sources

Variations for Nephrotic Syndrome, Type 2

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

76 (show top 50) (show all 51)
# 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

ClinVar genetic disease variations for Nephrotic Syndrome, Type 2:

6 (show top 50) (show all 167)
# 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
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Expression for Nephrotic Syndrome, Type 2

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Pathways for Nephrotic Syndrome, Type 2

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GO Terms for Nephrotic Syndrome, Type 2

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Sources for Nephrotic Syndrome, Type 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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