MCID: NPH026
MIFTS: 12

Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Categories: Rare diseases, Nephrological diseases, Genetic diseases

Aliases & Classifications for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

MalaCards integrated aliases for Nephrotic Syndrome, Idiopathic, Steroid-Resistant:

Name: Nephrotic Syndrome, Idiopathic, Steroid-Resistant 53 29 6
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 53 73
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 53
Familial Idiopathic Nephrotic Syndrome 53
Srn1 53

Classifications:



External Ids:

UMLS 73 C1868672

Summaries for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

MalaCards based summary : Nephrotic Syndrome, Idiopathic, Steroid-Resistant, also known as nephrotic syndrome, steroid-resistant, autosomal recessive, is related to nephrotic syndrome, type 2 and familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis. An important gene associated with Nephrotic Syndrome, Idiopathic, Steroid-Resistant is NPHS2 (NPHS2, Podocin).

Related Diseases for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Graphical network of the top 20 diseases related to Nephrotic Syndrome, Idiopathic, Steroid-Resistant:



Diseases related to Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Symptoms & Phenotypes for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Drugs & Therapeutics for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis Terminated NCT00883636

Search NIH Clinical Center for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Genetic Tests for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Genetic tests related to Nephrotic Syndrome, Idiopathic, Steroid-Resistant:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Idiopathic, Steroid-Resistant 29 NPHS2

Anatomical Context for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Publications for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Variations for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

ClinVar genetic disease variations for Nephrotic Syndrome, Idiopathic, Steroid-Resistant:

6
(show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh37 Chromosome 1, 179530463: 179530463
2 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh38 Chromosome 1, 179561328: 179561328
3 NPHS2 NPHS2, 1-BP INS, 104G insertion Pathogenic
4 NPHS2 NPHS2, 1-BP DEL, 419G deletion Pathogenic
5 NPHS2 NPHS2, 2-BP DEL, 855AA deletion Pathogenic
6 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh37 Chromosome 1, 179544726: 179544726
7 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh38 Chromosome 1, 179575591: 179575591
8 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh37 Chromosome 1, 179528869: 179528869
9 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh38 Chromosome 1, 179559734: 179559734
10 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh37 Chromosome 1, 179526362: 179526362
11 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh38 Chromosome 1, 179557227: 179557227
12 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Likely pathogenic rs74315348 GRCh37 Chromosome 1, 179521740: 179521740
13 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Likely pathogenic rs74315348 GRCh38 Chromosome 1, 179552605: 179552605
14 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh37 Chromosome 1, 179526214: 179526214
15 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh38 Chromosome 1, 179557079: 179557079
16 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh37 Chromosome 1, 179521743: 179521743
17 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh38 Chromosome 1, 179552608: 179552608
18 NPHS2 NM_014625.3(NPHS2): c.948delT (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh38 Chromosome 1, 179551377: 179551377
19 NPHS2 NM_014625.3(NPHS2): c.948delT (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh37 Chromosome 1, 179520512: 179520512
20 NPHS2 NM_014625.3(NPHS2): c.855_856delAA (p.Arg286Thrfs) deletion Likely pathogenic rs749740335 GRCh37 Chromosome 1, 179521755: 179521756
21 NPHS2 NM_014625.3(NPHS2): c.855_856delAA (p.Arg286Thrfs) deletion Likely pathogenic rs749740335 GRCh38 Chromosome 1, 179552620: 179552621
22 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh37 Chromosome 1, 179526314: 179526314
23 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh38 Chromosome 1, 179557179: 179557179
24 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh37 Chromosome 1, 179528845: 179528845
25 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh38 Chromosome 1, 179559710: 179559710
26 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh38 Chromosome 1, 179559711: 179559711
27 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh37 Chromosome 1, 179528846: 179528846
28 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh38 Chromosome 1, 179561287: 179561287
29 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh37 Chromosome 1, 179530422: 179530422
30 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh37 Chromosome 1, 179519880: 179519880
31 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh38 Chromosome 1, 179550745: 179550745
32 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh37 Chromosome 1, 179520050: 179520050
33 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh38 Chromosome 1, 179550915: 179550915
34 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh38 Chromosome 1, 179550973: 179550973
35 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh37 Chromosome 1, 179520108: 179520108
36 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh37 Chromosome 1, 179520151: 179520151
37 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh38 Chromosome 1, 179551016: 179551016
38 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh38 Chromosome 1, 179552664: 179552664
39 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh37 Chromosome 1, 179521799: 179521799
40 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh37 Chromosome 1, 179544885: 179544885
41 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh38 Chromosome 1, 179575750: 179575750
42 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh37 Chromosome 1, 179545050: 179545050
43 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh38 Chromosome 1, 179575915: 179575915
44 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh37 Chromosome 1, 179545051: 179545051
45 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh38 Chromosome 1, 179575916: 179575916
46 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh38 Chromosome 1, 179551287: 179551287
47 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh37 Chromosome 1, 179520422: 179520422
48 NPHS2 NM_014625.3(NPHS2): c.954C> T (p.Ala318=) single nucleotide variant Benign/Likely benign rs1410592 GRCh37 Chromosome 1, 179520506: 179520506
49 NPHS2 NM_014625.3(NPHS2): c.954C> T (p.Ala318=) single nucleotide variant Benign/Likely benign rs1410592 GRCh38 Chromosome 1, 179551371: 179551371
50 NPHS2 NM_014625.3(NPHS2): c.288C> T (p.Ser96=) single nucleotide variant Benign/Likely benign rs3738423 GRCh37 Chromosome 1, 179533915: 179533915

Expression for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Search GEO for disease gene expression data for Nephrotic Syndrome, Idiopathic, Steroid-Resistant.

Pathways for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

GO Terms for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Sources for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

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