NPHS2
MCID: NPH049
MIFTS: 40

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 40
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 57 73
Nphs2 57 75
Srn1 57 75
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; Srn1 57
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome 75
Nephrotic Syndrome, Type 2, Susceptibility to 6
Idiopathic Nephrotic Syndrome 73
Nephrotic Syndrome 2 75
Srn 75

Characteristics:

OMIM:

57
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:

32
nephrotic syndrome, type 2:
Onset and clinical course variable expressivity rapidly progressive juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 2

OMIM : 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)

MalaCards based summary : Nephrotic Syndrome, Type 2, also known as nephrotic syndrome, steroid-resistant, autosomal recessive, is related to nephrotic syndrome, idiopathic, steroid-resistant and focal segmental glomerulosclerosis, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 2 is NPHS2 (NPHS2, Podocin). The drugs Mycophenolic acid and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and endothelial, and related phenotypes are proteinuria and edema

UniProtKB/Swiss-Prot : 75 Nephrotic syndrome 2: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder.

Related Diseases for Nephrotic Syndrome, Type 2

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome, Type 14 Nephrotic Syndrome, Type 15
Nephrotic Syndrome, Type 16 Familial Nephrotic Syndrome

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, idiopathic, steroid-resistant 31.3 AXDND1 NPHS2
2 focal segmental glomerulosclerosis 11.7
3 wilms tumor 1 11.5
4 iga glomerulonephritis 11.5
5 familial nephrotic syndrome 11.4
6 nail-patella syndrome 11.2
7 membranous nephropathy 11.2
8 kidney disease 11.2
9 frasier syndrome 11.1
10 denys-drash syndrome 11.1
11 chronic kidney failure 11.1
12 end stage renal failure 11.1
13 glomerulonephritis 11.1
14 galloway-mowat syndrome 11.1
15 lipoid nephrosis 11.1
16 nephrosclerosis 11.1
17 crescentic glomerulonephritis 11.1
18 coenzyme q10 deficiency, primary, 6 11.1
19 hypoparathyroidism, sensorineural deafness, and renal disease 11.0
20 nephrotic syndrome, type 1 11.0
21 pierson syndrome 11.0
22 atrial septal defect 3 11.0
23 urinary system disease 11.0
24 discrete subaortic stenosis 11.0
25 kidney hypertrophy 11.0
26 diffuse mesangial sclerosis 11.0
27 nephrotic syndrome, type 6 10.9
28 sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.9
29 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.9
30 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.9
31 focal segmental glomerulosclerosis 1 10.6
32 chronic interstitial cystitis 10.2
33 childhood absence epilepsy 10.1
34 chromophobe renal cell carcinoma 10.1
35 renal oncocytoma 10.1
36 polycystic kidney disease 10.1
37 wilms tumor 6 10.0
38 purpura 10.0
39 amyloidosis 10.0
40 nephrotic syndrome 9.8

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



Diseases related to Nephrotic Syndrome, Type 2

Symptoms & Phenotypes for Nephrotic Syndrome, Type 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nephrotic Syndrome, Type 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 edema 32 HP:0000969
3 nephrotic syndrome 32 HP:0000100
4 hyperlipidemia 32 HP:0003077
5 stage 5 chronic kidney disease 32 HP:0003774
6 hypoalbuminemia 32 HP:0003073
7 focal segmental glomerulosclerosis 32 HP:0000097

UMLS symptoms related to Nephrotic Syndrome, Type 2:


edema

Drugs & Therapeutics for Nephrotic Syndrome, Type 2

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

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
4
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2 302-25-0
5
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2 2921-57-5
6
Prednisone Approved, Vet_approved Phase 4,Phase 3,Not Applicable 53-03-2 5865
7
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
8
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
9
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2 2920-86-7
10 Immunologic Factors Phase 4,Phase 2,Phase 3
11 Methylprednisolone acetate Phase 4,Phase 3,Phase 2
12 Prednisolone acetate Phase 4,Phase 3,Phase 2
13 Vaccines Phase 4
14 Cyclosporins Phase 4
15 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
16 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Not Applicable
17 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
18 Hormone Antagonists Phase 4,Phase 3,Phase 1,Not Applicable
19 glucocorticoids Phase 4,Phase 3,Not Applicable
20 Hormones Phase 4,Phase 3,Phase 1,Not Applicable
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Not Applicable
22 Antitubercular Agents Phase 4,Phase 3
23 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Antibiotics, Antitubercular Phase 4,Phase 3
25 Anti-Bacterial Agents Phase 4,Phase 3
26 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
27 Antirheumatic Agents Phase 4,Phase 2,Phase 3
28 Calcineurin Inhibitors Phase 4,Phase 2,Phase 3
29 Antibodies Phase 4,Phase 2,Phase 3
30 Immunoglobulins Phase 4,Phase 2,Phase 3
31
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
32
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
33 Antineoplastic Agents, Alkylating Phase 3
34 Alkylating Agents Phase 3
35 Central Nervous System Depressants Phase 2, Phase 3
36 Tranquilizing Agents Phase 2, Phase 3
37 GABA Agents Phase 2, Phase 3
38 Anticonvulsants Phase 2, Phase 3
39 Neurotransmitter Agents Phase 2, Phase 3
40 Antimanic Agents Phase 2, Phase 3
41 Psychotropic Drugs Phase 2, Phase 3
42 Peripheral Nervous System Agents Phase 3,Phase 2
43 Antiemetics Phase 3
44 Gastrointestinal Agents Phase 3
45 Protective Agents Phase 3
46 Neuroprotective Agents Phase 3
47 Autonomic Agents Phase 3
48 Anthelmintics Phase 3
49 Adjuvants, Immunologic Phase 3
50 Antiparasitic Agents Phase 3

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
3 Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome Completed NCT01895894 Phase 4 Mycophenolate mofetil
4 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
5 Adjusted Steroids Therapy in Childerens With Idiopathic Nephrotic Syndrome Not yet recruiting NCT02649413 Phase 4 Prednisone
6 Efficacy of Rituximab For the Treatment of Calcineurin Inhibitors Dependent Nephrotic Syndrome During Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
7 Cyclophosphamide Versus Mycophenolate Mofetil for the Treatment of Steroid-dependent Nephrotic Syndrome in Children Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
8 Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome Recruiting NCT03298698 Phase 3 Rituximab;Prednisone
9 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
10 Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome Recruiting NCT03501459 Phase 3 Rituximab
11 Prednisolone Trial in Children Younger Than 4 Years Recruiting NCT03141970 Phase 3 Prednisolone
12 Efficiency of Levamisole for Maintaining Remission After the First Flare of Steroid Sensitive Nephrotic Syndrome in Children Recruiting NCT02818738 Phase 3 Levamisole Hydrochloride
13 Efficacy and Safety of Immunoglobulin Associated With Rituximab Versus Rituximab Alone in Childhood-Onset Steroid-dependent Nephrotic Syndrome Not yet recruiting NCT03560011 Phase 2, Phase 3 immunoglobulin IV
14 IL-2 for Multi Drug Resistant Nephrotic Syndrome Completed NCT02455908 Phase 1, Phase 2 Proleukin®
15 Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome Recruiting NCT02394119 Phase 2 Ofatumumab;Rituximab
16 Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome Recruiting NCT02394106 Phase 2 Ofatumumab
17 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
18 Allogenic AD-MSC Transplantation in Idiopathic Nephrotic Syndrome (Focal Segmental Glomerulosclerosis) Unknown status NCT02382874 Phase 1
19 Dose-Finding Pilot Study of ACTH in Patients With Idiopathic Membranous Nephropathy Completed NCT00805753 Phase 1 ACTH
20 Glucocorticoid in Treatment of Adult Idiopathic Nephrotic Syndrome:a Prospective Observational Study Unknown status NCT02298335 Not Applicable prednisone
21 Steroid Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT01386957
22 Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome Completed NCT01609426
23 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910
24 Latent Viral Infection of Lymphoid Cells in Idiopathic Nephrotic Syndrome Completed NCT00577525
25 Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome Completed NCT00172276
26 Pharmacokinetics of Cyclosporin in Nephrotic Syndrome Completed NCT01616446
27 Kidney Disease Biomarkers Completed NCT00255398
28 Steroid-Induced Osteoporosis in the Pediatric Population - Canadian Incidence Study Completed NCT01663129
29 Diagnostic and Prognostic Value of Miss-1 Study in Children and Adult With Nephrotic Syndrome MISSNEPHROTIQUE Recruiting NCT03592030
30 Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East Active, not recruiting NCT03326037
31 Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis Terminated NCT00883636
32 The Inova Type 2 Diabetes Mellitus Study Withdrawn NCT02222623 Not Applicable Glargine;NPH

Search NIH Clinical Center for Nephrotic Syndrome, Type 2

Genetic Tests for Nephrotic Syndrome, Type 2

Anatomical Context for Nephrotic Syndrome, Type 2

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

41
Kidney, Bone, Endothelial, Neutrophil, T Cells, B Cells, Monocytes

Publications for Nephrotic Syndrome, Type 2

Articles related to Nephrotic Syndrome, Type 2:

# Title Authors Year
1
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. ( 21697813 )
2011
2
A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. ( 20001346 )
2009
3
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. ( 10742096 )
2000
4
Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome" ( 10802674 )
2000

Variations for Nephrotic Syndrome, Type 2

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

75 (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
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
39 NPHS2 p.Leu142Pro VAR_072147 rs12240233
40 NPHS2 p.Ile192Val VAR_072148
41 NPHS2 p.Ser211Ala VAR_072149
42 NPHS2 p.Ala213Thr VAR_072150
43 NPHS2 p.Val218Gly VAR_072151
44 NPHS2 p.His228Asp VAR_072152
45 NPHS2 p.Arg229Leu VAR_072153
46 NPHS2 p.Asp267Asn VAR_072154
47 NPHS2 p.Val268Leu VAR_072155
48 NPHS2 p.His276Leu VAR_072156
49 NPHS2 p.Arg322Gln VAR_072158 rs776859868
50 NPHS2 p.Pro341Ser VAR_072159 rs121404767

ClinVar genetic disease variations for Nephrotic Syndrome, Type 2:

6 (show top 50) (show all 162)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 GRCh37 Chromosome 1, 179530462: 179530462
2 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 GRCh38 Chromosome 1, 179561327: 179561327
3 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh37 Chromosome 1, 179530463: 179530463
4 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh38 Chromosome 1, 179561328: 179561328
5 NPHS2 NPHS2, 1-BP INS, 104G insertion Pathogenic
6 NPHS2 NPHS2, 1-BP DEL, 419G deletion Pathogenic
7 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315344 GRCh37 Chromosome 1, 179544941: 179544941
8 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315344 GRCh38 Chromosome 1, 179575806: 179575806
9 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh37 Chromosome 1, 179544726: 179544726
10 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh38 Chromosome 1, 179575591: 179575591
11 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh37 Chromosome 1, 179528869: 179528869
12 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh38 Chromosome 1, 179559734: 179559734
13 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh37 Chromosome 1, 179526362: 179526362
14 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh38 Chromosome 1, 179557227: 179557227
15 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Likely pathogenic rs74315348 GRCh37 Chromosome 1, 179521740: 179521740
16 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Likely pathogenic rs74315348 GRCh38 Chromosome 1, 179552605: 179552605
17 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh37 Chromosome 1, 179526214: 179526214
18 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh38 Chromosome 1, 179557079: 179557079
19 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh37 Chromosome 1, 179521743: 179521743
20 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh38 Chromosome 1, 179552608: 179552608
21 NPHS2 NM_014625.3(NPHS2): c.948delT (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh38 Chromosome 1, 179551377: 179551377
22 NPHS2 NM_014625.3(NPHS2): c.948delT (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh37 Chromosome 1, 179520512: 179520512
23 NPHS2 NM_014625.3(NPHS2): c.855_856delAA (p.Arg286Thrfs) deletion Likely pathogenic rs749740335 GRCh37 Chromosome 1, 179521755: 179521756
24 NPHS2 NM_014625.3(NPHS2): c.855_856delAA (p.Arg286Thrfs) deletion Likely pathogenic rs749740335 GRCh38 Chromosome 1, 179552620: 179552621
25 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh38 Chromosome 1, 179557179: 179557179
26 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh37 Chromosome 1, 179526314: 179526314
27 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh37 Chromosome 1, 179528845: 179528845
28 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh38 Chromosome 1, 179559710: 179559710
29 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh38 Chromosome 1, 179559711: 179559711
30 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh37 Chromosome 1, 179528846: 179528846
31 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh38 Chromosome 1, 179561287: 179561287
32 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh37 Chromosome 1, 179530422: 179530422
33 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh37 Chromosome 1, 179544885: 179544885
34 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh38 Chromosome 1, 179575750: 179575750
35 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh37 Chromosome 1, 179519880: 179519880
36 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh38 Chromosome 1, 179550745: 179550745
37 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh37 Chromosome 1, 179520050: 179520050
38 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh38 Chromosome 1, 179550915: 179550915
39 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh38 Chromosome 1, 179550973: 179550973
40 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh37 Chromosome 1, 179520108: 179520108
41 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh37 Chromosome 1, 179520151: 179520151
42 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh38 Chromosome 1, 179551016: 179551016
43 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh38 Chromosome 1, 179552664: 179552664
44 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh37 Chromosome 1, 179521799: 179521799
45 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh37 Chromosome 1, 179545050: 179545050
46 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh38 Chromosome 1, 179575915: 179575915
47 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh37 Chromosome 1, 179545051: 179545051
48 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh38 Chromosome 1, 179575916: 179575916
49 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh38 Chromosome 1, 179551287: 179551287
50 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh37 Chromosome 1, 179520422: 179520422

Expression for Nephrotic Syndrome, Type 2

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

Pathways for Nephrotic Syndrome, Type 2

GO Terms for Nephrotic Syndrome, Type 2

Sources for Nephrotic Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
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