Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
NPHS2
MCID: NPH049
MIFTS: 48

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 Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Nephrotic Syndrome, Type 2

About this section

MalaCards integrated aliases for Nephrotic Syndrome, Type 2:

Name: Nephrotic Syndrome, Type 2 56 13 39
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 56 71
Nephrotic Syndrome Type 2 12 15
Nphs2 56 73
Srn1 56 73
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; Srn1 56
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome 12
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome 73
Nephrotic Syndrome, Type 2, Susceptibility to 6
Idiopathic Nephrotic Syndrome 71
Nephrotic Syndrome 2 73
Srn 73

Characteristics:

OMIM:

56
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:

31
nephrotic syndrome, type 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity juvenile onset rapidly progressive


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0080379
OMIM 56 600995
OMIM Phenotypic Series 56 PS256300
MeSH 43 D009404
UMLS 71 C1868672 C3496337
Sources

Summaries for Nephrotic Syndrome, Type 2

About this section
OMIM : 56 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 idiopathic nephrotic syndrome and glomerulonephritis, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 2 is NPHS2 (NPHS2 Stomatin Family Member, Podocin), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. The drugs rituximab and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and eye, 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 : 73 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.

Sources

Related Diseases for Nephrotic Syndrome, Type 2

About this section

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 Nephrotic Syndrome, Type 21
Familial Nephrotic Syndrome

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 idiopathic nephrotic syndrome 32.4 NPHS2 AXDND1
2 glomerulonephritis 32.1 NPHS2 NPHS1
3 glomerular disease 31.9 NPHS2 NPHS1
4 iga nephropathy 1 31.9 NPHS2 NPHS1
5 kidney disease 31.8 NPHS2 NPHS1 ACTN4
6 nephrotic syndrome, type 1 31.7 NPHS2 NPHS1 ACTN4
7 iga glomerulonephritis 31.6 NPHS2 NPHS1
8 membranous nephropathy 31.6 NPHS2 NPHS1
9 crescentic glomerulonephritis 31.5 NPHS2 ACTN4
10 kidney hypertrophy 31.3 NPHS2 NPHS1
11 nephrotic syndrome 31.3 PLCE1 NPHS2 NPHS1 ACTN4
12 nephrotic syndrome, type 10 31.3 NPHS2 NPHS1
13 acute proliferative glomerulonephritis 31.2 NPHS2 NPHS1
14 chronic kidney disease 31.2 NPHS2 NPHS1 INF2 ACTN4
15 nephrosclerosis 31.2 NPHS2 NPHS1
16 end stage renal disease 31.1 NPHS2 NPHS1 INF2 ACTN4
17 diffuse mesangial sclerosis 31.0 PLCE1 NPHS2 NPHS1
18 lipoid nephrosis 31.0 NPHS2 NPHS1 INF2 ACTN4
19 focal segmental glomerulosclerosis 5 31.0 NPHS2 INF2 ACTN4
20 genetic steroid-resistant nephrotic syndrome 30.9 PLCE1 NPHS2 NPHS1 INF2 ACTN4
21 galloway-mowat syndrome 30.9 NPHS2 NPHS1 ACTN4
22 hypoparathyroidism, sensorineural deafness, and renal disease 30.8 NPHS2 NPHS1 ACTN4
23 focal segmental glomerulosclerosis 30.6 PLCE1 NPHS2 NPHS1 INF2 ACTN4
24 congenital syphilis 30.5 PLCE1 NPHS2 NPHS1
25 oligomeganephronia 30.3 NPHS2 NPHS1 INF2 ACTN4
26 focal segmental glomerulosclerosis 2 30.3 NPHS2 NPHS1 INF2 ACTN4
27 denys-drash syndrome 30.2 PLCE1 NPHS2 NPHS1 ACTN4
28 frasier syndrome 30.1 PLCE1 NPHS2 NPHS1 INF2 ACTN4
29 familial nephrotic syndrome 30.1 PLCE1 NPHS2 NPHS1 INF2 ACTN4
30 galloway-mowat syndrome 1 30.0 PLCE1 NPHS2 NPHS1 ACTN4
31 nail-patella syndrome 29.7 PLCE1 NPHS2 NPHS1 INF2 ACTN4
32 focal segmental glomerulosclerosis 1 29.4 PLCE1 NPHS2 NPHS1 INF2 ACTN4
33 pierson syndrome 29.4 PLCE1 NPHS2 NPHS1 INF2 ACTN4
34 idiopathic steroid-resistant nephrotic syndrome 11.7
35 wilms tumor 1 11.5
36 alport syndrome 11.5
37 genetic nephrotic syndrome 11.4
38 coenzyme q10 deficiency, primary, 6 11.2
39 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance 11.2
40 danubian endemic familial nephropathy 11.2
41 hypertension, essential 11.2
42 hematuria, benign familial 11.0
43 schimke immunoosseous dysplasia 11.0
44 autosomal recessive alport syndrome 11.0
45 urinary system disease 11.0
46 discrete subaortic stenosis 11.0
47 chronic interstitial cystitis 10.4
48 macular degeneration, age-related, 1 10.3
49 wilms tumor 5 10.3
50 polycystic kidney disease 10.2

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

About this section

Human phenotypes related to Nephrotic Syndrome, Type 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 edema 31 HP:0000969
3 nephrotic syndrome 31 HP:0000100
4 hyperlipidemia 31 HP:0003077
5 hypoalbuminemia 31 HP:0003073
6 stage 5 chronic kidney disease 31 HP:0003774
7 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM:

56
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

About this section

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

(show top 50) (show all 61)
# 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 Vaccines Phase 4
4 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
5 Hormones Phase 4
6 Hormone Antagonists Phase 4
7 Adrenocorticotropic Hormone Phase 4
8 Melanocyte-Stimulating Hormones Phase 4
9 beta-Endorphin Phase 4
10 Immunoglobulin A Phase 4
11 Immunologic Factors Phase 4
12 Antirheumatic Agents Phase 4
13 Antineoplastic Agents, Immunological Phase 4
14 Calcineurin Inhibitors Phase 4
15 Antibodies Phase 4
16 Immunoglobulins Phase 4
17
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
18
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
19
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
20
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
21
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
22
Mycophenolic acid Approved Phase 3 24280-93-1 446541
23 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
24
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
25
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
26
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
27 Psychotropic Drugs Phase 2, Phase 3
28 Anticonvulsants Phase 2, Phase 3
29 Neurotransmitter Agents Phase 2, Phase 3
30 Alkylating Agents Phase 3
31 Methylprednisolone Acetate Phase 3
32 Anti-Infective Agents Phase 3
33 Antineoplastic Agents, Hormonal Phase 3
34 glucocorticoids Phase 3
35 Anti-Inflammatory Agents Phase 3
36 Antitubercular Agents Phase 3
37 Anti-Bacterial Agents Phase 3
38 Antibiotics, Antitubercular Phase 3
39 Immunoglobulins, Intravenous Phase 2, Phase 3
40 Anthelmintics Phase 3
41 Adjuvants, Immunologic Phase 3
42 Antiparasitic Agents Phase 3
43
ofatumumab Approved Phase 2 679818-59-8 6918251
44
Cetirizine Approved Phase 2 83881-51-0 2678
45
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
46
Promethazine Approved, Investigational Phase 2 60-87-7 4927
47
Acetaminophen Approved Phase 2 103-90-2 1983
48
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
49 Antiviral Agents Phase 1, Phase 2
50 Anti-HIV Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 46)
# 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 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT02896270 Phase 2, Phase 3 Valproic Acid
9 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
10 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
11 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
12 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
13 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
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 Efficacy of Chimeric Monoclonal Anti-CD20 Antibodies (Rituximab Biosimilar) in the Treatment of Childhood Steroid-dependent Nephrotic Syndrome and Development of Cell Biomarkers Predicting Outcome. The RTX 4 Trial. Recruiting NCT04402580 Phase 2 Rituximab Biosimilar;Mycophenolate Mofetil
21 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
22 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
23 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
24 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
25 Steroid Treatment of Childhood Idiopathic Nephrotic Syndrome: Epidemiology, Therapeutic Adequacy, Medium and Long Term Outcomes. A Prospective Observational Cohort Study. Unknown status NCT01386957
26 Diagnostic and Prognostic Value of Miss-1 Study in Children and Adult With Nephrotic Syndrome MISSNEPHROTIQUE Unknown status NCT03592030
27 Safety and Efficacy of Combination Acthar Gel and Tacrolimus in the Treatment of Steroid Resistant Nephrotic Syndrome Unknown status NCT03042637 Acthar Gel and Tacrolimus
28 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
29 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
30 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
31 Viral Infection of Lymphoid Cells Occuring at the First Manifestation of Idiopathic Nephrotic Syndrome Completed NCT00577525
32 PHARMACOKINETICS OF CYCLOSPORIN - A MICROEMULSION IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME Completed NCT01616446
33 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910
34 Kidney Disease Biomarkers Completed NCT00255398
35 Fluid Balance, Hormones and Urine Proteomics in Nephrotic Syndrome in Childhood Completed NCT00690586
36 Assessment of the Educational Experience for Patients With Newly Diagnosed Nephrotic Syndrome Completed NCT02190955
37 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
38 Effect of Daily Transcutaneous Auricular Vagus Nerve (taVNS) Stimulation on Proteinuria in Pediatric Patients With Idiopathic Nephrotic Syndrome Recruiting NCT04169776
39 A National Prospective Cohort of Patients With Idiopathic Nephrotic Syndrome Beginning in Childhood. Recruiting NCT04207580
40 The FOrMe Registry (The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry) Recruiting NCT03949972
41 A Pilot Trial of UrApp, a Novel Mobile Application for Childhood Nephrotic Syndrome Management Recruiting NCT04075656
42 Nephrotic Syndrome Study Network Under the Rare Diseases Clinical Research Network Recruiting NCT01209000
43 Covid-19 Associated Nephritis as Early Predictor for Complicated Course of Disease Recruiting NCT04347824
44 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
45 Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East Active, not recruiting NCT03326037
46 From Immune System Damage to Podocyte Cell Damage: Prospective Database and Biological Collection of Patients (Children and Adults) With Minimal Glomerular Injury Nephrotic Syndrome (MGLS) and Primary Segmental and Focal Hyalinosis (HSFP) Not yet recruiting NCT04174066

Search NIH Clinical Center for Nephrotic Syndrome, Type 2

Sources

Genetic Tests for Nephrotic Syndrome, Type 2

About this section
Sources

Anatomical Context for Nephrotic Syndrome, Type 2

About this section

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

40
Kidney, Testes, Eye, Heart, Cortex, Liver, Ovary
Sources

Publications for Nephrotic Syndrome, Type 2

About this section

Articles related to Nephrotic Syndrome, Type 2:

(show top 50) (show all 355)
# Title Authors PMID Year
1
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 6 61 56
24509478 2014
2
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 56 61 6
23242530 2013
3
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 61 6 56
17109732 2007
4
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 56 61 6
12464671 2002
5
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 61 56 6
11729243 2001
6
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 61 6 56
10742096 2000
7
Broadening the spectrum of diseases related to podocin mutations. 6 56
12707396 2003
8
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. 56 6
8606597 1996
9
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 6 56
8589695 1995
10
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 6 61
23800802 2013
11
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 6 61
11805168 2002
12
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 6 61
11854170 2002
13
Disruption of PTPRO causes childhood-onset nephrotic syndrome. 6
21722858 2011
14
Familial forms of nephrotic syndrome. 56
19066979 2010
15
A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. 56
10966492 2000
16
Familial focal segmental glomerulosclerosis. 56
6229501 1983
17
Familial nephrotic syndrome with focal glomerular sclerosis. 56
7001902 1980
18
[Familial nephrotic syndrome with focal glomerular sclerosis (author's transl)]. 56
997538 1976
19
Congenital nephrotic syndrome: is early aggressive treatment needed? Yes. 61
32377865 2020
20
Plasminogen deficiency does not prevent sodium retention in a genetic mouse model of experimental nephrotic syndrome. 61
32455507 2020
21
Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening. 61
31922211 2020
22
Injured Podocytes Are Sensitized to Angiotensin II-Induced Calcium Signaling. 61
31924670 2020
23
Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls. 61
32363171 2020
24
NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. 61
32129207 2020
25
CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome. 61
32482922 2020
26
TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran. 61
31529341 2019
27
Podocytes maintain high basal levels of autophagy independent of mtor signaling. 61
31865844 2019
28
The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis. 61
31925271 2019
29
The intrinsic circadian clock in podocytes controls glomerular filtration rate. 61
31695128 2019
30
Cathepsin B increases ENaC activity leading to hypertension early in nephrotic syndrome. 61
31368174 2019
31
Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. 61
31949506 2019
32
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology. 61
30099615 2019
33
Identification of key pathways and genes in different types of chronic kidney disease based on WGCNA. 61
31257514 2019
34
Management of children with congenital nephrotic syndrome: challenging treatment paradigms. 61
30215773 2019
35
Urinary nephrospheres indicate recovery from acute kidney injury in renal allograft recipients - a pilot study. 61
31288784 2019
36
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome. 61
30712057 2019
37
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome. 61
31308032 2019
38
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation. 61
31209189 2019
39
Podocyte-specific expression of Cre recombinase promotes glomerular basement membrane thickening. 61
30810063 2019
40
Podocytes and autophagy: a potential therapeutic target in lupus nephritis. 61
30755075 2019
41
Genetics of congenital and infantile nephrotic syndrome. 61
30721404 2019
42
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? 61
31013750 2019
43
In Reply to 'Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant'. 61
30777635 2019
44
Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant. 61
30777632 2019
45
Spironolactone alleviates diabetic nephropathy through promoting autophagy in podocytes. 61
30734886 2019
46
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling. 61
30241959 2019
47
Treatment and outcome of congenital nephrotic syndrome. 61
29474669 2019
48
Inhibiting 4E-BP1 re-activation represses podocyte cell cycle re-entry and apoptosis induced by adriamycin. 61
30858353 2019
49
Non-collagen genes role in digenic Alport syndrome. 61
30808327 2019
50
Global polysome analysis of normal and injured podocytes. 61
30379099 2019
Sources

Variations for Nephrotic Syndrome, Type 2

About this section

ClinVar genetic disease variations for Nephrotic Syndrome, Type 2:

6 (show top 50) (show all 116) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHS2 NM_014625.3(NPHS2):c.452-1G>ASNV Pathogenic 397592 rs1060499703 1:179528897-179528897 1:179559762-179559762
2 NPHS2 NM_014625.3(NPHS2):c.104dup (p.Arg36fs)duplication Pathogenic 447876 rs1320543506 1:179544895-179544896 1:179575760-179575761
3 NPHS2 NM_014625.4(NPHS2):c.535-1G>TSNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
4 NPHS2 NM_014625.3(NPHS2):c.385C>T (p.Gln129Ter)SNV Pathogenic 555037 rs755972674 1:179530490-179530490 1:179561355-179561355
5 NPHS2 NM_014625.3(NPHS2):c.211C>T (p.Arg71Ter)SNV Pathogenic 549953 rs1462028977 1:179544789-179544789 1:179575654-179575654
6 NPHS2 NM_014625.3(NPHS2):c.378+1G>ASNV Pathogenic 553168 rs762631237 1:179533824-179533824 1:179564689-179564689
7 NPHS2 NM_144696.6(AXDND1):c.3032-3116T>ASNV Pathogenic 635511 1:179520531-179520531 1:179551396-179551396
8 NPHS2 NM_014625.4(NPHS2):c.823dup (p.Gln275fs)duplication Pathogenic 635471 1:179521787-179521788 1:179552652-179552653
9 NPHS2 NM_014625.4(NPHS2):c.981del (p.Gln328fs)deletion Pathogenic 801581 1:179520479-179520479 1:179551344-179551344
10 NPHS2 NM_014625.4(NPHS2):c.576_577del (p.Ile192fs)deletion Pathogenic 807638 1:179526323-179526324 1:179557188-179557189
11 NPHS2 NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter)SNV Pathogenic 5361 rs74315343 1:179530463-179530463 1:179561328-179561328
12 NPHS2 NPHS2, 1-BP DEL, 419Gdeletion Pathogenic 5363
13 NPHS2 NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys)SNV Pathogenic 5366 rs74315345 1:179544726-179544726 1:179575591-179575591
14 NPHS2 NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly)SNV Pathogenic 5367 rs74315346 1:179528869-179528869 1:179559734-179559734
15 NPHS2 NM_014625.3(NPHS2):c.538G>A (p.Val180Met)SNV Pathogenic 5368 rs74315347 1:179526362-179526362 1:179557227-179557227
16 NPHS2 NM_144696.6(AXDND1):c.3032-3135deldeletion Pathogenic 188990 rs775170915 1:179520512-179520512 1:179551377-179551377
17 NPHS2 NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu)SNV Pathogenic 222762 rs869025495 1:179533850-179533850 1:179564715-179564715
18 NPHS2 NM_144696.6(AXDND1):c.3032-1848G>ASNV Pathogenic 224482 rs869312747 1:179521799-179521799 1:179552664-179552664
19 NPHS2 NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter)SNV Pathogenic 224481 rs869312746 1:179544885-179544885 1:179575750-179575750
20 NPHS2 NM_014625.3(NPHS2):c.503G>A (p.Arg168His)SNV Pathogenic/Likely pathogenic 188730 rs530318579 1:179528845-179528845 1:179559710-179559710
21 NPHS2 NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter)SNV Pathogenic/Likely pathogenic 370159 rs778055996 1:179526257-179526257 1:179557122-179557122
22 AXDND1 , NPHS2 NM_144696.6(AXDND1):c.3032-1891_3032-1890deldeletion Pathogenic/Likely pathogenic 188823 rs749740335 1:179521755-179521756 1:179552620-179552621
23 AXDND1 , NPHS2 NM_014625.4(NPHS2):c.868G>A (p.Val290Met)SNV Pathogenic/Likely pathogenic 126418 rs200482683 1:179521743-179521743 1:179552608-179552608
24 NPHS2 NM_144696.6(AXDND1):c.3032-1907G>ASNV Pathogenic/Likely pathogenic 5369 rs74315348 1:179521740-179521740 1:179552605-179552605
25 NPHS2 NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser)SNV Pathogenic/Likely pathogenic 556556 rs748812981 1:179526186-179526186 1:179557051-179557051
26 NPHS2 NM_144696.6(AXDND1):c.3032-1911A>TSNV Pathogenic/Likely pathogenic 552884 rs967339926 1:179521736-179521736 1:179552601-179552601
27 NPHS2 NM_014625.3(NPHS2):c.156del (p.Thr53fs)deletion Pathogenic/Likely pathogenic 495108 rs1272948499 1:179544844-179544844 1:179575709-179575709
28 NPHS2 NM_144696.6(AXDND1):c.3032-3060C>TSNV Likely pathogenic 552959 rs776016942 1:179520587-179520587 1:179551452-179551452
29 NPHS2 NM_144696.6(AXDND1):c.3032-3059T>GSNV Likely pathogenic 552789 rs1031744496 1:179520588-179520588 1:179551453-179551453
30 NPHS2 NM_144696.6(AXDND1):c.3032-1898C>TSNV Likely pathogenic 556281 rs1490010141 1:179521749-179521749 1:179552614-179552614
31 NPHS2 NM_014625.3(NPHS2):c.738+2T>CSNV Likely pathogenic 553546 rs1212702104 1:179526160-179526160 1:179557025-179557025
32 NPHS2 NM_014625.3(NPHS2):c.249del (p.Leu84fs)deletion Likely pathogenic 557597 rs1553316575 1:179544751-179544751 1:179575616-179575616
33 NPHS2 NM_014625.3(NPHS2):c.166G>T (p.Glu56Ter)SNV Likely pathogenic 555448 rs1167223941 1:179544834-179544834 1:179575699-179575699
34 NPHS2 NM_014625.3(NPHS2):c.275-2A>GSNV Likely pathogenic 557752 rs1553315173 1:179533930-179533930 1:179564795-179564795
35 NPHS2 NM_014625.3(NPHS2):c.102delinsGG (p.Arg36fs)indel Likely pathogenic 551115 rs1553316648 1:179544898-179544898 1:179575763-179575763
36 NPHS2 NM_014625.3(NPHS2):c.166dup (p.Glu56fs)duplication Likely pathogenic 557323 rs1553316611 1:179544833-179544834 1:179575698-179575699
37 NPHS2 NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter)SNV Likely pathogenic 188892 rs12568913 1:179526314-179526314 1:179557179-179557179
38 NPHS2 NM_014625.3(NPHS2):c.479A>T (p.Asp160Val)SNV Likely pathogenic 599118 rs74315346 1:179528869-179528869 1:179559734-179559734
39 NPHS2 NM_014625.3(NPHS2):c.167del (p.Glu56fs)deletion Likely pathogenic 599119 rs1558355124 1:179544833-179544833 1:179575698-179575698
40 NPHS2 NM_144696.6(AXDND1):c.3032-1910C>TSNV Likely pathogenic 555445 rs1553312833 1:179521737-179521737 1:179552602-179552602
41 NPHS2 NM_014625.4(NPHS2):c.379G>A (p.Val127Ile)SNV Likely pathogenic 807639 1:179530496-179530496 1:179561361-179561361
42 NPHS2 NM_014625.3(NPHS2):c.369del (p.Cys124fs)deletion Likely pathogenic 370315 rs1057516395 1:179533834-179533834 1:179564699-179564699
43 NPHS2 NM_014625.3(NPHS2):c.138_142dup (p.Ser48fs)duplication Likely pathogenic 370759 rs1057516747 1:179544857-179544858 1:179575722-179575723
44 NPHS2 NM_014625.3(NPHS2):c.95_96insTA (p.Gly33fs)insertion Likely pathogenic 370936 rs1057516880 1:179544904-179544905 1:179575769-179575770
45 NPHS2 NM_014625.3(NPHS2):c.3G>A (p.Met1Ile)SNV Likely pathogenic 370679 rs1057516680 1:179544997-179544997 1:179575862-179575862
46 NPHS2 NM_144696.6(AXDND1):c.3032-3249dupduplication Likely pathogenic 370964 rs1057516900 1:179520397-179520398 1:179551262-179551263
47 NPHS2 NM_144696.6(AXDND1):c.3032-3151G>ASNV Likely pathogenic 371673 rs763818901 1:179520496-179520496 1:179551361-179551361
48 NPHS2 NM_144696.6(AXDND1):c.3032-3077G>ASNV Likely pathogenic 370718 rs199506378 1:179520570-179520570 1:179551435-179551435
49 NPHS2 NM_144696.6(AXDND1):c.3032-1895G>ASNV Likely pathogenic 371301 rs1057517164 1:179521752-179521752 1:179552617-179552617
50 NPHS2 NM_144696.6(AXDND1):c.3032-1830C>TSNV Likely pathogenic 370486 rs1057516523 1:179521817-179521817 1:179552682-179552682

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

73 (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

Sources

Expression for Nephrotic Syndrome, Type 2

About this section
Search GEO for disease gene expression data for Nephrotic Syndrome, Type 2.
Sources

Pathways for Nephrotic Syndrome, Type 2

About this section

Pathways related to Nephrotic Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Primary Focal Segmental Glomerulosclerosis FSGS 1
10.89 PLCE1 NPHS2 NPHS1 INF2 ACTN4
2
Nephrin/Neph1 signaling in the kidney podocyte 1
10.57 NPHS2 NPHS1
3
Nephrin interactions 65
10.3 NPHS1 ACTN4
Sources

GO Terms for Nephrotic Syndrome, Type 2

About this section

Cellular components related to Nephrotic Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 slit diaphragm GO:0036057 8.62 NPHS2 NPHS1

Biological processes related to Nephrotic Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 8.62 NPHS2 NPHS1
Sources

Sources for Nephrotic Syndrome, Type 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....