NPHS2
MCID: NPH049
MIFTS: 51

Nephrotic Syndrome, Type 2 (NPHS2)

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

Aliases & Classifications for Nephrotic Syndrome, Type 2

MalaCards integrated aliases for Nephrotic Syndrome, Type 2:

Name: Nephrotic Syndrome, Type 2 57 13 39
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 57 6 71
Nephrotic Syndrome Type 2 12 15
Nphs2 57 73
Srn1 57 73
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; Srn1 57
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®:

57 (Updated 05-Mar-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:



External Ids:

Disease Ontology 12 DOID:0080379
OMIM® 57 600995
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404
UMLS 71 C1868672 C3496337

Summaries for Nephrotic Syndrome, Type 2

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

Related Diseases for Nephrotic Syndrome, Type 2

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 20 Nephrotic Syndrome, Type 2
Nephrotic Syndrome, Type 3 Nephrotic Syndrome, Type 6
Nephrotic Syndrome, Type 7 Nephrotic Syndrome, Type 8
Nephrotic Syndrome, Type 9 Nephrotic Syndrome, Type 10
Nephrotic Syndrome, Type 11 Nephrotic Syndrome, Type 12
Nephrotic Syndrome, Type 13 Nephrotic Syndrome, Type 14
Nephrotic Syndrome, Type 15 Nephrotic Syndrome, Type 16
Nephrotic Syndrome, Type 17 Nephrotic Syndrome, Type 18
Nephrotic Syndrome, Type 19 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 82)
# Related Disease Score Top Affiliating Genes
1 idiopathic nephrotic syndrome 31.8 NPHS2 AXDND1
2 nephrosclerosis 31.2 NPHS2 NPHS1
3 kidney hypertrophy 31.2 NPHS2 NPHS1
4 nephrotic syndrome, type 10 31.1 NPHS2 NPHS1
5 crescentic glomerulonephritis 31.1 WT1 NPHS2 ACTN4
6 acute proliferative glomerulonephritis 31.1 NPHS2 NPHS1
7 chronic kidney disease 31.1 WT1 NPHS2 NPHS1 ACTN4
8 iga glomerulonephritis 30.9 NPHS2 NPHS1 CD2AP
9 hypoparathyroidism, sensorineural deafness, and renal disease 30.9 NPHS2 NPHS1 ACTN4
10 congenital syphilis 30.8 PLCE1 NPHS2 NPHS1
11 membranous nephropathy 30.7 WT1 NPHS2 NPHS1 CD2AP
12 diffuse mesangial sclerosis 30.6 WT1 PLCE1 NPHS2 NPHS1
13 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.6 WT1 NPHS2 NPHS1 ACTN4
14 lipoid nephrosis 30.6 NPHS2 NPHS1 CD2AP ACTN4
15 nephrotic syndrome, type 1 30.4 WT1 NPHS2 NPHS1 CD2AP ACTN4
16 genetic steroid-resistant nephrotic syndrome 30.3 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
17 nephrotic syndrome 30.3 WT1 PLCE1 NPHS2 NPHS1 CD2AP ACTN4
18 wilms tumor 1 30.3 WT1 NPHS2 NPHS1 CD2AP ACTN4
19 end stage renal disease 30.3 NPHS2 NPHS1 INF2 CD2AP ACTN4
20 proteinuria, chronic benign 30.2 NPHS2 NPHS1 INF2 CD2AP ACTN4
21 kidney disease 30.1 WT1 NPHS2 NPHS1 INF2 CD2AP ACTN4
22 oligomeganephronia 29.9 NPHS2 NPHS1 INF2 CD2AP ACTN4
23 focal segmental glomerulosclerosis 2 29.9 NPHS2 NPHS1 INF2 CD2AP ACTN4
24 glomerular disease 29.8 CD2AP ACTN4
25 genetic nephrotic syndrome 29.8 WT1 NPHS2 NPHS1
26 focal segmental glomerulosclerosis 29.7 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
27 alport syndrome 29.6 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
28 galloway-mowat syndrome 29.6 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
29 nail-patella syndrome 29.4 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
30 focal segmental glomerulosclerosis 1 29.4 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
31 frasier syndrome 29.3 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
32 denys-drash syndrome 29.3 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
33 familial nephrotic syndrome 29.3 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
34 pierson syndrome 29.1 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 macular degeneration, age-related, 1 10.1
45 autosomal recessive disease 10.0
46 chronic interstitial cystitis 9.9
47 parkinson disease, late-onset 9.9
48 hypoxia 9.9
49 seizure disorder 9.9
50 food allergy 9.8

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



Diseases related to Nephrotic Syndrome, Type 2

Symptoms & Phenotypes for Nephrotic Syndrome, Type 2

Human phenotypes related to Nephrotic Syndrome, Type 2:

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-Mar-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-Mar-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

Drugs & Therapeutics for Nephrotic Syndrome, Type 2

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
2 Vaccines 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
rituximab Approved Phase 3 174722-31-7 10201696
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
8
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
9
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
10 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
11
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
12
Maleic acid Experimental Phase 3 110-16-7 444266
13
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
14 Immunosuppressive Agents Phase 2, Phase 3
15 Anticonvulsants Phase 2, Phase 3
16 Psychotropic Drugs Phase 2, Phase 3
17 Neurotransmitter Agents Phase 2, Phase 3
18 Calcineurin Inhibitors Phase 2, Phase 3
19 Antibiotics, Antitubercular Phase 3
20 Antitubercular Agents Phase 3
21 Anti-Bacterial Agents Phase 3
22 Anti-Infective Agents Phase 3
23 Alkylating Agents Phase 3
24 Immunologic Factors Phase 3
25 Antineoplastic Agents, Immunological Phase 3
26 Antirheumatic Agents Phase 3
27 Anti-Inflammatory Agents Phase 3
28 Hormone Antagonists Phase 3
29 Hormones Phase 3
30 glucocorticoids Phase 3
31 Antineoplastic Agents, Hormonal Phase 3
32 Methylprednisolone Acetate Phase 3
33
ofatumumab Approved Phase 2 679818-59-8 6918251
34
Cetirizine Approved Phase 2 83881-51-0 2678
35
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
36
Mycophenolic acid Approved Phase 2 24280-93-1 446541
37 Anti-HIV Agents Phase 1, Phase 2
38 Antiviral Agents Phase 1, Phase 2
39 Anti-Retroviral Agents Phase 1, Phase 2
40 Immunoglobulins Phase 2
41 Antibodies Phase 2
42 Cyclosporins
43 interferons

Interventional clinical trials:

(show all 24)
# 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 Randomized Controlled Trial Comparing Rituximab to Mycophenolate Mofetil in Children With Steroid-dependent Idiopathic Nephrotic Syndrome. Not yet recruiting NCT04585152 Phase 2 Rituximab Biosimilar
13 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
14 Steroid Treatment of Childhood Idiopathic Nephrotic Syndrome: Epidemiology, Therapeutic Adequacy, Medium and Long Term Outcomes. A Prospective Observational Cohort Study. Unknown status NCT01386957
15 Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East Unknown status NCT03326037
16 A Prospective Observational Study to Assess the Efficacy an Safety of Glucocorticoid Therapy in the Treatment of Adult Idiopathic Nephrotic Syndrome Completed NCT02298335 prednisone
17 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
18 Viral Infection of Lymphoid Cells Occuring at the First Manifestation of Idiopathic Nephrotic Syndrome Completed NCT00577525
19 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
20 PHARMACOKINETICS OF CYCLOSPORIN - A MICROEMULSION IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME Completed NCT01616446
21 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910
22 A National Prospective Cohort of Patients With Idiopathic Nephrotic Syndrome Beginning in Childhood. Recruiting NCT04207580
23 Effect of Daily Transcutaneous Auricular Vagus Nerve (taVNS) Stimulation on Proteinuria in Pediatric Patients With Idiopathic Nephrotic Syndrome Recruiting NCT04169776
24 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

Genetic Tests for Nephrotic Syndrome, Type 2

Anatomical Context for Nephrotic Syndrome, Type 2

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

40
Kidney, Eye, Heart, Cortex, Liver

Publications for Nephrotic Syndrome, Type 2

Articles related to Nephrotic Syndrome, Type 2:

(show top 50) (show all 367)
# Title Authors PMID Year
1
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 6 57 61
24509478 2014
2
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 57 6 61
23242530 2013
3
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies. 6 57 61
17109732 2007
4
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 57 6 61
12464671 2002
5
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 57 6 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
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 61 6
23800802 2013
11
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 61 6
23515051 2013
12
WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 61 6
20442690 2010
13
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 61 6
11854170 2002
14
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 61 6
11805168 2002
15
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria. 6
24161391 2013
16
Disruption of PTPRO causes childhood-onset nephrotic syndrome. 6
21722858 2011
17
Familial forms of nephrotic syndrome. 57
19066979 2010
18
Single gene disorders. 6
19484379 2008
19
A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. 57
10966492 2000
20
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 6
9499425 1998
21
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 6
9398852 1997
22
Familial focal segmental glomerulosclerosis. 57
6229501 1983
23
Familial nephrotic syndrome with focal glomerular sclerosis. 57
7001902 1980
24
[Familial nephrotic syndrome with focal glomerular sclerosis (author's transl)]. 57
997538 1976
25
Plasminogen deficiency does not prevent sodium retention in a genetic mouse model of experimental nephrotic syndrome. 61
32455507 2021
26
Analysis of the clinical characteristics of arthritis with renal disease caused by a NPHS2 gene mutation. 61
33428103 2021
27
NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation. 61
33305316 2021
28
Genetic screening in children with challenging nephrotic syndrome. 61
33565430 2020
29
Podocytes maintain high basal levels of autophagy independent of mtor signaling. 61
31865844 2020
30
Congenital nephrotic syndrome: is early aggressive treatment needed? Yes. 61
32377865 2020
31
Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome. 61
33102883 2020
32
Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis. 61
32691731 2020
33
Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene. 61
32585588 2020
34
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. 61
32604935 2020
35
Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening. 61
31922211 2020
36
Injured Podocytes Are Sensitized to Angiotensin II-Induced Calcium Signaling. 61
31924670 2020
37
A partial response to abatacept in a patient with steroid resistant focal segmental glomerulosclerosis. 61
32779421 2020
38
Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations. 61
33193607 2020
39
CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome. 61
32482922 2020
40
NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. 61
32129207 2020
41
Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls. 61
32363171 2020
42
TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran. 61
31529341 2019
43
The intrinsic circadian clock in podocytes controls glomerular filtration rate. 61
31695128 2019
44
Cathepsin B increases ENaC activity leading to hypertension early in nephrotic syndrome. 61
31368174 2019
45
Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. 61
31949506 2019
46
Identification of key pathways and genes in different types of chronic kidney disease based on WGCNA. 61
31257514 2019
47
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology. 61
30099615 2019
48
Management of children with congenital nephrotic syndrome: challenging treatment paradigms. 61
30215773 2019
49
Urinary nephrospheres indicate recovery from acute kidney injury in renal allograft recipients - a pilot study. 61
31288784 2019
50
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome. 61
30712057 2019

Variations for Nephrotic Syndrome, Type 2

ClinVar genetic disease variations for Nephrotic Syndrome, Type 2:

6 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHS2 NM_014625.3(NPHS2):c.104dup (p.Arg36fs) Duplication Pathogenic 447876 rs1320543506 1:179544895-179544896 1:179575760-179575761
2 NPHS2 NPHS2, 1-BP DEL, 419G Deletion Pathogenic 5363
3 NPHS2 NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys) SNV Pathogenic 5366 rs74315345 1:179544726-179544726 1:179575591-179575591
4 NPHS2 NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly) SNV Pathogenic 5367 rs74315346 1:179528869-179528869 1:179559734-179559734
5 NPHS2 NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter) SNV Pathogenic 224481 rs869312746 1:179544885-179544885 1:179575750-179575750
6 NPHS2 NM_144696.6(AXDND1):c.3032-1848G>A SNV Pathogenic 224482 rs869312747 1:179521799-179521799 1:179552664-179552664
7 NPHS2 NM_144696.6(AXDND1):c.3032-3135del Deletion Pathogenic 188990 rs775170915 1:179520512-179520512 1:179551377-179551377
8 NPHS2 NM_014625.3(NPHS2):c.-51G>T SNV Pathogenic 225143 rs12406197 1:179545050-179545050 1:179575915-179575915
9 NPHS2 NM_014625.3(NPHS2):c.452-1G>A SNV Pathogenic 397592 rs1060499703 1:179528897-179528897 1:179559762-179559762
10 NPHS2 NM_014625.3(NPHS2):c.211C>T (p.Arg71Ter) SNV Pathogenic 549953 rs1462028977 1:179544789-179544789 1:179575654-179575654
11 NPHS2 NM_014625.3(NPHS2):c.385C>T (p.Gln129Ter) SNV Pathogenic 555037 rs755972674 1:179530490-179530490 1:179561355-179561355
12 NPHS2 NM_014625.3(NPHS2):c.378+1G>A SNV Pathogenic 553168 rs762631237 1:179533824-179533824 1:179564689-179564689
13 NPHS2 NM_014625.4(NPHS2):c.823dup (p.Gln275fs) Duplication Pathogenic 635471 rs1572262824 1:179521787-179521788 1:179552652-179552653
14 NPHS2 NM_144696.6(AXDND1):c.3032-3116T>A SNV Pathogenic 635511 rs1572255744 1:179520531-179520531 1:179551396-179551396
15 NPHS2 NM_014625.4(NPHS2):c.576_577del (p.Ile192fs) Deletion Pathogenic 807638 rs1572277600 1:179526323-179526324 1:179557188-179557189
16 NPHS2 NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter) SNV Pathogenic 917730 1:179544741-179544741 1:179575606-179575606
17 NPHS2 NM_014625.4(NPHS2):c.419del (p.Gly140fs) Deletion Pathogenic 928542 1:179530456-179530456 1:179561321-179561321
18 NPHS2 NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter) SNV Pathogenic 5361 rs74315343 1:179530463-179530463 1:179561328-179561328
19 NPHS2 NM_144696.6(AXDND1):c.3032-1891_3032-1890del Deletion Pathogenic 188823 rs749740335 1:179521755-179521756 1:179552620-179552621
20 NPHS2 NM_014625.3(NPHS2):c.538G>A (p.Val180Met) SNV Pathogenic 5368 rs74315347 1:179526362-179526362 1:179557227-179557227
21 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
22 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
23 NPHS2 NM_014625.4(NPHS2):c.981del (p.Gln328fs) Deletion Pathogenic 801581 rs1572255047 1:179520479-179520479 1:179551344-179551344
24 NPHS2 NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu) SNV Pathogenic 222762 rs869025495 1:179533850-179533850 1:179564715-179564715
25 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 11:32413514-32413514 11:32391968-32391968
26 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
27 NPHS2 NM_014625.4(NPHS2):c.868G>A (p.Val290Met) SNV Pathogenic/Likely pathogenic 126418 rs200482683 1:179521743-179521743 1:179552608-179552608
28 NPHS2 NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) SNV Pathogenic/Likely pathogenic 556556 rs748812981 1:179526186-179526186 1:179557051-179557051
29 NPHS2 NM_014625.3(NPHS2):c.503G>A (p.Arg168His) SNV Pathogenic/Likely pathogenic 188730 rs530318579 1:179528845-179528845 1:179559710-179559710
30 NPHS2 NM_014625.3(NPHS2):c.156del (p.Thr53fs) Deletion Pathogenic/Likely pathogenic 495108 rs1272948499 1:179544844-179544844 1:179575709-179575709
31 NPHS2 NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) SNV Pathogenic/Likely pathogenic 370159 rs778055996 1:179526257-179526257 1:179557122-179557122
32 NPHS2 NM_144696.6(AXDND1):c.3032-1907G>A SNV Pathogenic/Likely pathogenic 5369 rs74315348 1:179521740-179521740 1:179552605-179552605
33 NPHS2 NM_014625.3(NPHS2):c.502C>T (p.Arg168Cys) SNV Likely pathogenic 188952 rs786204583 1:179528846-179528846 1:179559711-179559711
34 NPHS2 NM_014625.3(NPHS2):c.451+2T>A SNV Likely pathogenic 189111 rs786204708 1:179530422-179530422 1:179561287-179561287
35 NPHS2 NM_144696.6(AXDND1):c.3032-3077G>A SNV Likely pathogenic 370718 rs199506378 1:179520570-179520570 1:179551435-179551435
36 NPHS2 NM_014625.3(NPHS2):c.3G>A (p.Met1Ile) SNV Likely pathogenic 370679 rs1057516680 1:179544997-179544997 1:179575862-179575862
37 NPHS2 NM_014625.3(NPHS2):c.95_96insTA (p.Gly33fs) Insertion Likely pathogenic 370936 rs1057516880 1:179544904-179544905 1:179575769-179575770
38 NPHS2 NM_014625.3(NPHS2):c.685C>T (p.Arg229Ter) SNV Likely pathogenic 370340 rs1057516414 1:179526215-179526215 1:179557080-179557080
39 NPHS2 NM_014625.3(NPHS2):c.138_142dup (p.Ser48fs) Duplication Likely pathogenic 370759 rs1057516747 1:179544857-179544858 1:179575722-179575723
40 NPHS2 NM_144696.6(AXDND1):c.3032-1830C>T SNV Likely pathogenic 370486 rs1057516523 1:179521817-179521817 1:179552682-179552682
41 NPHS2 NM_144696.6(AXDND1):c.3032-1895G>A SNV Likely pathogenic 371301 rs1057517164 1:179521752-179521752 1:179552617-179552617
42 NPHS2 NM_144696.6(AXDND1):c.3032-3249dup Duplication Likely pathogenic 370964 rs1057516900 1:179520397-179520398 1:179551262-179551263
43 NPHS2 NM_014625.3(NPHS2):c.369del (p.Cys124fs) Deletion Likely pathogenic 370315 rs1057516395 1:179533834-179533834 1:179564699-179564699
44 NPHS2 NM_144696.6(AXDND1):c.3032-3151G>A SNV Likely pathogenic 371673 rs763818901 1:179520496-179520496 1:179551361-179551361
45 NPHS2 NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) SNV Likely pathogenic 807639 rs1572282458 1:179530496-179530496 1:179561361-179561361
46 NPHS2 NM_014625.3(NPHS2):c.738+2T>C SNV Likely pathogenic 553546 rs1212702104 1:179526160-179526160 1:179557025-179557025
47 NPHS2 NM_144696.6(AXDND1):c.3032-1898C>T SNV Likely pathogenic 556281 rs1490010141 1:179521749-179521749 1:179552614-179552614
48 NPHS2 NM_014625.3(NPHS2):c.166dup (p.Glu56fs) Duplication Likely pathogenic 557323 rs1553316611 1:179544833-179544834 1:179575698-179575699
49 NPHS2 NM_144696.6(AXDND1):c.3032-1910C>T SNV Likely pathogenic 555445 rs1553312833 1:179521737-179521737 1:179552602-179552602
50 NPHS2 NM_014625.3(NPHS2):c.166G>T (p.Glu56Ter) SNV Likely pathogenic 555448 rs1167223941 1:179544834-179544834 1:179575699-179575699

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 rs139290621
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

Expression for Nephrotic Syndrome, Type 2

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

Pathways for Nephrotic Syndrome, Type 2

GO Terms for Nephrotic Syndrome, Type 2

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 excretion GO:0007588 9.16 NPHS2 NPHS1
2 glomerular basement membrane development GO:0032836 8.96 WT1 NPHS1
3 glomerulus development GO:0032835 8.62 WT1 PLCE1

Sources for Nephrotic Syndrome, Type 2

3 CDC
7 CNVD
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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
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36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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