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NPHS2
MCID: NPH049
MIFTS: 52

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
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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 57 13 39
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 57 6 70
Nephrotic Syndrome Type 2 12 15
Nphs2 57 72
Srn1 57 72
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; Srn1 57
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome 12
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome 72
Nephrotic Syndrome, Type 2, Susceptibility to 6
Idiopathic Nephrotic Syndrome 70
Nephrotic Syndrome 2 72
Srn 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 600995
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404
UMLS 70 C1868672 C3496337
Sources

Summaries for Nephrotic Syndrome, Type 2

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OMIM® : 57 Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). (600995) (Updated 05-Apr-2021)

MalaCards based summary : Nephrotic Syndrome, Type 2, also known as nephrotic syndrome, steroid-resistant, autosomal recessive, is related to idiopathic nephrotic syndrome and nephrosclerosis, 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 Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Vaccines and Heptavalent Pneumococcal Conjugate Vaccine have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and heart, and related phenotypes are proteinuria and nephrotic syndrome

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 : 72 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 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
Nephrotic Syndrome, Type 22 Nephrotic Syndrome, Type 23
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 83)
# Related Disease Score Top Affiliating Genes
1 idiopathic nephrotic syndrome 31.9 NPHS2 AXDND1
2 nephrosclerosis 31.4 NPHS2 NPHS1
3 kidney hypertrophy 31.3 NPHS2 NPHS1
4 nephrotic syndrome, type 10 31.3 NPHS2 NPHS1
5 acute proliferative glomerulonephritis 31.2 NPHS2 NPHS1
6 idiopathic steroid-resistant nephrotic syndrome 31.2 WT1 NPHS2 NPHS1
7 iga glomerulonephritis 31.1 NPHS2 NPHS1 CD2AP
8 membranous nephropathy 31.0 WT1 NPHS2 NPHS1 CD2AP
9 congenital syphilis 31.0 PLCE1 NPHS2 NPHS1
10 crescentic glomerulonephritis 30.9 WT1 NPHS2 ACTN4
11 diffuse mesangial sclerosis 30.8 WT1 PLCE1 NPHS2 NPHS1
12 hypoparathyroidism, sensorineural deafness, and renal disease 30.7 NPHS2 NPHS1 ACTN4
13 chronic kidney disease 30.7 WT1 NPHS2 NPHS1 AXDND1 ACTN4
14 lipoid nephrosis 30.5 NPHS2 NPHS1 CD2AP ACTN4
15 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.4 WT1 NPHS2 NPHS1 ACTN4
16 nephrotic syndrome, type 1 30.4 WT1 NPHS2 NPHS1 CD2AP ACTN4
17 wilms tumor 1 30.3 WT1 NPHS2 NPHS1 CD2AP ACTN4
18 end stage renal disease 30.3 NPHS2 NPHS1 INF2 CD2AP ACTN4
19 proteinuria, chronic benign 30.2 NPHS2 NPHS1 INF2 CD2AP ACTN4
20 kidney disease 30.1 WT1 NPHS2 NPHS1 INF2 CD2AP ACTN4
21 oligomeganephronia 29.9 NPHS2 NPHS1 INF2 CD2AP ACTN4
22 focal segmental glomerulosclerosis 2 29.9 NPHS2 NPHS1 INF2 CD2AP ACTN4
23 focal segmental glomerulosclerosis 29.9 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
24 nail-patella syndrome 29.9 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
25 nephrotic syndrome 29.8 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
26 alport syndrome 29.7 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
27 genetic steroid-resistant nephrotic syndrome 29.7 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
28 galloway-mowat syndrome 29.7 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
29 glomerular disease 29.7 CD2AP ACTN4
30 focal segmental glomerulosclerosis 1 29.5 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
31 frasier syndrome 29.5 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
32 familial nephrotic syndrome 29.4 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
33 denys-drash syndrome 29.4 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
34 pierson syndrome 29.2 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
35 glomerulonephritis 11.1
36 danubian endemic familial nephropathy 10.9
37 hypertension, essential 10.9
38 hematuria, benign familial 10.8
39 schimke immunoosseous dysplasia 10.8
40 autosomal dominant alport syndrome 10.8
41 autosomal recessive alport syndrome 10.8
42 nephronophthisis 10.8
43 discrete subaortic stenosis 10.8
44 congenital nephrotic syndrome finnish type 10.3
45 macular degeneration, age-related, 1 10.1
46 autosomal recessive disease 10.0
47 genetic nephrotic syndrome 10.0
48 chronic interstitial cystitis 9.9
49 parkinson disease, late-onset 9.9
50 hypoxia 9.9

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
mesangial cell proliferation
loss of podocyte foot processes
more
Muscle Soft Tissue:
edema

Laboratory Abnormalities:
hyperlipidemia
hypoalbuminemia

Clinical features from OMIM®:

600995 (Updated 05-Apr-2021)

UMLS symptoms related to Nephrotic Syndrome, Type 2:


edema

MGI Mouse Phenotypes related to Nephrotic Syndrome, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ACTN4 CD2AP INF2 NPHS2 PLCE1 WT1
2 renal/urinary system MP:0005367 9.02 ACTN4 CD2AP NPHS1 NPHS2 WT1
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 all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
3
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
6
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
7
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
8
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
9
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
10
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
11
Maleic acid Experimental Phase 3 110-16-7 444266
12
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
13 Psychotropic Drugs Phase 2, Phase 3
14 Anticonvulsants Phase 2, Phase 3
15 Neurotransmitter Agents Phase 2, Phase 3
16 Calcineurin Inhibitors Phase 2, Phase 3
17 Antibiotics, Antitubercular Phase 3
18 Anti-Infective Agents Phase 3
19 Alkylating Agents Phase 3
20 Anti-Bacterial Agents Phase 3
21 Antitubercular Agents Phase 3
22 glucocorticoids Phase 3
23 Hormone Antagonists Phase 3
24 Hormones Phase 3
25 Antineoplastic Agents, Hormonal Phase 3
26 Anti-Inflammatory Agents Phase 3
27 Methylprednisolone Acetate Phase 3
28
ofatumumab Approved Phase 2 679818-59-8 6918251
29
Cetirizine Approved Phase 2 83881-51-0 2678
30
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
31
rituximab Approved Phase 2 174722-31-7 10201696
32
Mycophenolic acid Approved Phase 2 24280-93-1 446541
33 Anti-Retroviral Agents Phase 1, Phase 2
34 Antiviral Agents Phase 1, Phase 2
35 Anti-HIV Agents Phase 1, Phase 2
36 Antineoplastic Agents, Immunological Phase 2
37 Antirheumatic Agents Phase 2
38 Immunologic Factors Phase 2
39 Immunoglobulins Phase 2
40 Antibodies Phase 2
41
Montelukast Approved 158966-92-8 5281040
42 Cyclosporins
43 interferons
44 Respiratory System Agents
45 Anti-Asthmatic Agents
46 Tin Fluorides
47 Leukotriene Antagonists
48 Immunosuppressive Agents

Interventional clinical trials:

(show all 26)
# 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 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT02896270 Phase 2, Phase 3 Valproic Acid
4 A Prospective, Randomized, Double Blind, Placebo-controlled Phase II/III Study Evaluating the Efficacy of Rituximab in the Prevention of Relapse of Calcineurin Inhibitors Dependent Idiopathic Nephrotic Syndrome of Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
5 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
6 Rituximab in Patients With Low Dose Steroid-dependent Idiopathic Nephrotic Syndrome Completed NCT04494438 Phase 3 Rituximab
7 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Unresponsive to 8 Weeks of High Dose Prednisone Recruiting NCT03298698 Phase 3 Rituximab;Prednisone
8 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
9 Randomized, Multicentric, Open Label, Parallel Group Trial to Compare the Efficacy of 6-months Versus 3-months Therapy With Prednisolone for the First Episode of Idiopathic Nephrotic Syndrome in Children Younger Than 4 Years Active, not recruiting NCT03141970 Phase 3 Prednisolone
10 Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor-dependent Idiopathic Nephrotic Syndrome: an Open-label, Randomized, Controlled, Superiority Trial. Completed NCT02394119 Phase 2 Ofatumumab;Rituximab
11 Use of IL-2 for Pediatric, Multi Drug Resistant, Idiopathic Nephrotic Syndrome Completed NCT02455908 Phase 1, Phase 2 Proleukin®
12 Efficacy and Safety of Rituximab in the First Episode of Pediatric Idiopathic Nephrotic Syndrome Recruiting NCT04783675 Phase 2 Rituximab
13 Randomized Controlled Trial Comparing Rituximab to Mycophenolate Mofetil in Children With Steroid-dependent Idiopathic Nephrotic Syndrome. Not yet recruiting NCT04585152 Phase 2 Rituximab Biosimilar
14 Treatment of Steroid Dependent Idiopathic Nephrotic Syndrome in Children With Low Doses of Interleukin 2: a Pilot Study Withdrawn NCT02997150 Phase 2 IL-2 Low dose
15 Steroid Treatment of Childhood Idiopathic Nephrotic Syndrome: Epidemiology, Therapeutic Adequacy, Medium and Long Term Outcomes. A Prospective Observational Cohort Study. Unknown status NCT01386957
16 Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East Unknown status NCT03326037
17 A Prospective Observational Study to Assess the Efficacy an Safety of Glucocorticoid Therapy in the Treatment of Adult Idiopathic Nephrotic Syndrome Completed NCT02298335 prednisone
18 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
19 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
20 Viral Infection of Lymphoid Cells Occuring at the First Manifestation of Idiopathic Nephrotic Syndrome Completed NCT00577525
21 PHARMACOKINETICS OF CYCLOSPORIN - A MICROEMULSION IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME Completed NCT01616446
22 Role of Montelukast in Preventing Relapse in Childhood Idiopathic Nephrotic Syndrome Completed NCT04818723 Montelukast
23 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910
24 Effect of Daily Transcutaneous Auricular Vagus Nerve (taVNS) Stimulation on Proteinuria in Pediatric Patients With Idiopathic Nephrotic Syndrome Recruiting NCT04169776
25 A National Prospective Cohort of Patients With Idiopathic Nephrotic Syndrome Beginning in Childhood. Recruiting NCT04207580
26 A Pilot Trial of UrApp, a Novel Mobile Application for Childhood Nephrotic Syndrome Management Recruiting NCT04075656

Search NIH Clinical Center for Nephrotic Syndrome, Type 2

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Genetic Tests for Nephrotic Syndrome, Type 2

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Sources

Anatomical Context for Nephrotic Syndrome, Type 2

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

40
Kidney, Eye, Heart, Cortex, Liver
Sources

Publications for Nephrotic Syndrome, Type 2

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Articles related to Nephrotic Syndrome, Type 2:

(show top 50) (show all 377)
# Title Authors PMID Year
1
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 6 61 57
24509478 2014
2
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 6 57 61
23242530 2013
3
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 61 57 6
17109732 2007
4
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 61 57 6
12464671 2002
5
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 6 57 61
11729243 2001
6
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 61 6 57
10742096 2000
7
Broadening the spectrum of diseases related to podocin mutations. 57 6
12707396 2003
8
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. 6 57
8606597 1996
9
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 6 57
8589695 1995
10
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. 6 61
30260545 2018
11
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children. 61 6
30450462 2018
12
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 61 6
29382718 2018
13
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. 61 6
30013592 2018
14
Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant. 6 61
28658201 2017
15
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children. 6 61
28476686 2017
16
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 6 61
28204945 2017
17
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 61 6
28117080 2017
18
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 6 61
26668027 2016
19
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 6 61
26413278 2015
20
NPHS2 mutations account for only 15% of nephrotic syndrome cases. 6 61
26420286 2015
21
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. 61 6
25720465 2015
22
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 6 61
25349199 2015
23
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 61 6
26138234 2015
24
Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 61 6
25599733 2015
25
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. 6 61
24500309 2014
26
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. 6 61
25852895 2014
27
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 61 6
24856380 2014
28
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 61 6
24227627 2014
29
Steroid-resistant nephrotic syndrome: impact of genetic testing. 6 61
24413855 2013
30
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 61 6
23800802 2013
31
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 61 6
24072147 2013
32
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 6 61
23645318 2013
33
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 6 61
23595123 2013
34
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 6 61
23515051 2013
35
CD80, suPAR and nephrotic syndrome in a case of NPHS2 mutation. 6 61
24089165 2013
36
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 61 6
22565185 2012
37
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 6 61
22578956 2012
38
NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. 6 61
23013956 2012
39
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 6 61
21415313 2011
40
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 6 61
20947785 2011
41
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 61 6
20798252 2010
42
WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 6 61
20442690 2010
43
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 6 61
20507940 2010
44
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. 61 6
21171529 2010
45
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 61 6
19406966 2009
46
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 61 6
19145239 2009
47
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. 6 61
19371226 2009
48
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 61 6
20001346 2009
49
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. 61 6
18443213 2008
50
NPHS2 variation in focal and segmental glomerulosclerosis. 61 6
18823551 2008
Sources

Variations for Nephrotic Syndrome, Type 2

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ClinVar genetic disease variations for Nephrotic Syndrome, Type 2:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPHS2 NM_014625.3(NPHS2):c.104dup (p.Arg36fs) Duplication Pathogenic 447876 rs1320543506 GRCh37: 1:179544895-179544896
GRCh38: 1:179575760-179575761
2 NPHS2 NPHS2, 1-BP DEL, 419G Deletion Pathogenic 5363 GRCh37:
GRCh38:
3 NPHS2 NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys) SNV Pathogenic 5366 rs74315345 GRCh37: 1:179544726-179544726
GRCh38: 1:179575591-179575591
4 NPHS2 NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly) SNV Pathogenic 5367 rs74315346 GRCh37: 1:179528869-179528869
GRCh38: 1:179559734-179559734
5 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1848G>A SNV Pathogenic 224482 rs869312747 GRCh37: 1:179521799-179521799
GRCh38: 1:179552664-179552664
6 NPHS2 NM_014625.3(NPHS2):c.-51G>T SNV Pathogenic 225143 rs12406197 GRCh37: 1:179545050-179545050
GRCh38: 1:179575915-179575915
7 NPHS2 NM_014625.3(NPHS2):c.452-1G>A SNV Pathogenic 397592 rs1060499703 GRCh37: 1:179528897-179528897
GRCh38: 1:179559762-179559762
8 NPHS2 NM_014625.3(NPHS2):c.211C>T (p.Arg71Ter) SNV Pathogenic 549953 rs1462028977 GRCh37: 1:179544789-179544789
GRCh38: 1:179575654-179575654
9 NPHS2 NM_014625.3(NPHS2):c.378+1G>A SNV Pathogenic 553168 rs762631237 GRCh37: 1:179533824-179533824
GRCh38: 1:179564689-179564689
10 NPHS2 NM_014625.3(NPHS2):c.385C>T (p.Gln129Ter) SNV Pathogenic 555037 rs755972674 GRCh37: 1:179530490-179530490
GRCh38: 1:179561355-179561355
11 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.823dup (p.Gln275fs) Duplication Pathogenic 635471 rs1572262824 GRCh37: 1:179521787-179521788
GRCh38: 1:179552652-179552653
12 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3116T>A SNV Pathogenic 635511 rs1572255744 GRCh37: 1:179520531-179520531
GRCh38: 1:179551396-179551396
13 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.981del (p.Gln328fs) Deletion Pathogenic 801581 rs1572255047 GRCh37: 1:179520479-179520479
GRCh38: 1:179551344-179551344
14 NPHS2 NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu) SNV Pathogenic 222762 rs869025495 GRCh37: 1:179533850-179533850
GRCh38: 1:179564715-179564715
15 NPHS2 NM_014625.3(NPHS2):c.538G>A (p.Val180Met) SNV Pathogenic 5368 rs74315347 GRCh37: 1:179526362-179526362
GRCh38: 1:179557227-179557227
16 NPHS2 NM_014625.4(NPHS2):c.576_577del (p.Ile192fs) Deletion Pathogenic 807638 rs1572277600 GRCh37: 1:179526323-179526324
GRCh38: 1:179557188-179557189
17 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1891_3032-1890del Deletion Pathogenic 188823 rs749740335 GRCh37: 1:179521755-179521756
GRCh38: 1:179552620-179552621
18 NPHS2 NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter) SNV Pathogenic 917730 GRCh37: 1:179544741-179544741
GRCh38: 1:179575606-179575606
19 NPHS2 NM_014625.4(NPHS2):c.419del (p.Gly140fs) Deletion Pathogenic 928542 GRCh37: 1:179530456-179530456
GRCh38: 1:179561321-179561321
20 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3135del Deletion Pathogenic 188990 rs775170915 GRCh37: 1:179520512-179520512
GRCh38: 1:179551377-179551377
21 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 GRCh37: 1:179526366-179526366
GRCh38: 1:179557231-179557231
22 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 GRCh37: 1:179526366-179526366
GRCh38: 1:179557231-179557231
23 NPHS2 NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter) SNV Pathogenic 5361 rs74315343 GRCh37: 1:179530463-179530463
GRCh38: 1:179561328-179561328
24 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 GRCh37: 11:32413514-32413514
GRCh38: 11:32391968-32391968
25 NPHS2 NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter) SNV Pathogenic 224481 rs869312746 GRCh37: 1:179544885-179544885
GRCh38: 1:179575750-179575750
26 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 GRCh37: 11:32413513-32413513
GRCh38: 11:32391967-32391967
27 NPHS2 NM_014625.3(NPHS2):c.503G>A (p.Arg168His) SNV Pathogenic/Likely pathogenic 188730 rs530318579 GRCh37: 1:179528845-179528845
GRCh38: 1:179559710-179559710
28 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.868G>A (p.Val290Met) SNV Pathogenic/Likely pathogenic 126418 rs200482683 GRCh37: 1:179521743-179521743
GRCh38: 1:179552608-179552608
29 NPHS2 NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) SNV Pathogenic/Likely pathogenic 556556 rs748812981 GRCh37: 1:179526186-179526186
GRCh38: 1:179557051-179557051
30 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1907G>A SNV Pathogenic/Likely pathogenic 5369 rs74315348 GRCh37: 1:179521740-179521740
GRCh38: 1:179552605-179552605
31 NPHS2 NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) SNV Pathogenic/Likely pathogenic 370159 rs778055996 GRCh37: 1:179526257-179526257
GRCh38: 1:179557122-179557122
32 NPHS2 NM_014625.3(NPHS2):c.156del (p.Thr53fs) Deletion Pathogenic/Likely pathogenic 495108 rs1272948499 GRCh37: 1:179544844-179544844
GRCh38: 1:179575709-179575709
33 NPHS2 NM_014625.3(NPHS2):c.275-2A>G SNV Likely pathogenic 557752 rs1553315173 GRCh37: 1:179533930-179533930
GRCh38: 1:179564795-179564795
34 NPHS2 NM_014625.3(NPHS2):c.479A>T (p.Asp160Val) SNV Likely pathogenic 599118 rs74315346 GRCh37: 1:179528869-179528869
GRCh38: 1:179559734-179559734
35 NPHS2 NM_014625.3(NPHS2):c.167del (p.Glu56fs) Deletion Likely pathogenic 599119 rs1558355124 GRCh37: 1:179544833-179544833
GRCh38: 1:179575698-179575698
36 NPHS2 NM_014625.4(NPHS2):c.561G>A (p.Met187Ile) SNV Likely pathogenic 989252 GRCh37: 1:179526339-179526339
GRCh38: 1:179557204-179557204
37 NPHS2 NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) SNV Likely pathogenic 807639 rs1572282458 GRCh37: 1:179530496-179530496
GRCh38: 1:179561361-179561361
38 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1911A>T SNV Likely pathogenic 552884 rs967339926 GRCh37: 1:179521736-179521736
GRCh38: 1:179552601-179552601
39 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1887G>A SNV Likely pathogenic 562398 rs780761368 GRCh37: 1:179521760-179521760
GRCh38: 1:179552625-179552625
40 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3151G>A SNV Likely pathogenic 371673 rs763818901 GRCh37: 1:179520496-179520496
GRCh38: 1:179551361-179551361
41 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.953_955del (p.Ala318del) Deletion Likely pathogenic 974486 GRCh37: 1:179520505-179520507
GRCh38: 1:179551370-179551372
42 NPHS2 NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) SNV Likely pathogenic 188892 rs12568913 GRCh37: 1:179526314-179526314
GRCh38: 1:179557179-179557179
43 NPHS1 NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) SNV Likely pathogenic 222761 rs114896482 GRCh37: 19:36333389-36333389
GRCh38: 19:35842487-35842487
44 NPHS2 NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) SNV risk factor 5370 rs61747728 GRCh37: 1:179526214-179526214
GRCh38: 1:179557079-179557079
45 NPHS2 , AXDND1 NM_014625.4(NPHS2):c.868G>A (p.Val290Met) SNV risk factor 126418 rs200482683 GRCh37: 1:179521743-179521743
GRCh38: 1:179552608-179552608
46 WT1 NM_024426.6(WT1):c.1265G>T (p.Gly422Val) SNV Likely pathogenic 222890 rs869025561 GRCh37: 11:32414301-32414301
GRCh38: 11:32392755-32392755
47 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-3077G>A SNV Likely pathogenic 370718 rs199506378 GRCh37: 1:179520570-179520570
GRCh38: 1:179551435-179551435
48 NPHS2 NM_014625.3:c.452delG Deletion Likely pathogenic 996286 GRCh37: 1:179528896-179528896
GRCh38: 1:179559761-179559761
49 NPHS2 NM_014625.3(NPHS2):c.738+2T>C SNV Likely pathogenic 553546 rs1212702104 GRCh37: 1:179526160-179526160
GRCh38: 1:179557025-179557025
50 NPHS2 , AXDND1 NM_144696.6(AXDND1):c.3032-1898C>T SNV Likely pathogenic 556281 rs1490010141 GRCh37: 1:179521749-179521749
GRCh38: 1:179552614-179552614

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

72 (show all 50)
# 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.Arg238Ser VAR_071233 rs748812981
19 NPHS2 p.Val260Glu VAR_071235 rs775006954
20 NPHS2 p.Glu281Ala VAR_071237
21 NPHS2 p.Glu281Lys VAR_071238
22 NPHS2 p.Val290Met VAR_071239 rs200482683
23 NPHS2 p.Glu296Lys VAR_071240
24 NPHS2 p.Ala309Val VAR_071241
25 NPHS2 p.Arg3Gly VAR_072134
26 NPHS2 p.Arg18Thr VAR_072135
27 NPHS2 p.Arg26Met VAR_072136
28 NPHS2 p.Lys28Met VAR_072137 rs134019594
29 NPHS2 p.Glu30Lys VAR_072138 rs147718031
30 NPHS2 p.Glu30Gln VAR_072139
31 NPHS2 p.Gln39Leu VAR_072140
32 NPHS2 p.Pro89Thr VAR_072141
33 NPHS2 p.Met115Thr VAR_072142
34 NPHS2 p.Trp122Leu VAR_072143 rs750332447
35 NPHS2 p.Cys124Trp VAR_072144 rs139290621
36 NPHS2 p.Lys126Asn VAR_072145
37 NPHS2 p.Leu139Arg VAR_072146 rs134526081
38 NPHS2 p.Leu142Pro VAR_072147 rs12240233
39 NPHS2 p.Ile192Val VAR_072148
40 NPHS2 p.Ser211Ala VAR_072149
41 NPHS2 p.Ala213Thr VAR_072150
42 NPHS2 p.Val218Gly VAR_072151
43 NPHS2 p.His228Asp VAR_072152
44 NPHS2 p.Arg229Leu VAR_072153
45 NPHS2 p.Asp267Asn VAR_072154
46 NPHS2 p.Val268Leu VAR_072155
47 NPHS2 p.His276Leu VAR_072156
48 NPHS2 p.Arg322Gln VAR_072158 rs776859868
49 NPHS2 p.Pro341Ser VAR_072159 rs121404767
50 NPHS2 p.Val370Gly VAR_072160

Sources

Expression for Nephrotic Syndrome, Type 2

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

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

# Super pathways Score Top Affiliating Genes
1
Cell junction organization 65
Show member pathways
 12.05 NPHS1 CD2AP ACTN4
2
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.04 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
3
Nephrin/Neph1 signaling in the kidney podocyte 1
10.75 NPHS2 NPHS1 CD2AP
4
Nephrin interactions 65
10.47 NPHS1 CD2AP ACTN4
Sources

GO Terms for Nephrotic Syndrome, Type 2

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.13 NPHS2 NPHS1 CD2AP
2 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 regulation of G protein-coupled receptor signaling pathway GO:0008277 9.26 PLCE1 ADCYAP1
2 excretion GO:0007588 9.16 NPHS2 NPHS1
3 glomerular basement membrane development GO:0032836 8.96 WT1 NPHS1
4 glomerulus development GO:0032835 8.62 WT1 PLCE1
Sources

Sources for Nephrotic Syndrome, Type 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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
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