SRN1
MCID: NPH026
MIFTS: 12

Nephrotic Syndrome, Idiopathic, Steroid-Resistant (SRN1)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

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

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

Name: Nephrotic Syndrome, Idiopathic, Steroid-Resistant 54 30 6
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 54 74
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 54
Familial Idiopathic Nephrotic Syndrome 54
Srn1 54

Classifications:



External Ids:

UMLS 74 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 focal segmental hyalinosis. An important gene associated with Nephrotic Syndrome, Idiopathic, Steroid-Resistant is NPHS2 (NPHS2 Stomatin Family Member, Podocin).

Related Diseases for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Diseases related to Nephrotic Syndrome, Idiopathic, Steroid-Resistant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 2 31.9 AXDND1 NPHS2
2 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 12.7
3 nephrotic syndrome, type 6 11.8
4 focal segmental glomerulosclerosis 11.4
5 nephrotic syndrome 10.2

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 30 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 167)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHS2 NM_014625.3(NPHS2): c.948del (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh38 Chromosome 1, 179551377: 179551377
2 NPHS2 NM_014625.3(NPHS2): c.948del (p.Ala317Leufs) deletion Pathogenic/Likely pathogenic rs775170915 GRCh37 Chromosome 1, 179520512: 179520512
3 NPHS2 NM_014625.3(NPHS2): c.855_856delAA (p.Arg286Thrfs) deletion Pathogenic/Likely pathogenic rs749740335 GRCh37 Chromosome 1, 179521755: 179521756
4 NPHS2 NM_014625.3(NPHS2): c.855_856delAA (p.Arg286Thrfs) deletion Pathogenic/Likely pathogenic rs749740335 GRCh38 Chromosome 1, 179552620: 179552621
5 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh38 Chromosome 1, 179557179: 179557179
6 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 GRCh37 Chromosome 1, 179526314: 179526314
7 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh37 Chromosome 1, 179528845: 179528845
8 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 GRCh38 Chromosome 1, 179559710: 179559710
9 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh38 Chromosome 1, 179559711: 179559711
10 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 GRCh37 Chromosome 1, 179528846: 179528846
11 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh38 Chromosome 1, 179561287: 179561287
12 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 GRCh37 Chromosome 1, 179530422: 179530422
13 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 GRCh37 Chromosome 1, 179530462: 179530462
14 NPHS2 NM_014625.3(NPHS2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs74315342 GRCh38 Chromosome 1, 179561327: 179561327
15 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh37 Chromosome 1, 179530463: 179530463
16 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 GRCh38 Chromosome 1, 179561328: 179561328
17 NPHS2 NPHS2, 1-BP DEL, 419G deletion Pathogenic
18 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315344 GRCh37 Chromosome 1, 179544941: 179544941
19 NPHS2 NM_014625.3(NPHS2): c.59C> T (p.Pro20Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315344 GRCh38 Chromosome 1, 179575806: 179575806
20 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh37 Chromosome 1, 179544726: 179544726
21 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 GRCh38 Chromosome 1, 179575591: 179575591
22 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh37 Chromosome 1, 179528869: 179528869
23 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 GRCh38 Chromosome 1, 179559734: 179559734
24 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh37 Chromosome 1, 179526362: 179526362
25 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 GRCh38 Chromosome 1, 179557227: 179557227
26 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Likely pathogenic rs74315348 GRCh37 Chromosome 1, 179521740: 179521740
27 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Likely pathogenic rs74315348 GRCh38 Chromosome 1, 179552605: 179552605
28 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh37 Chromosome 1, 179526214: 179526214
29 NPHS2 NM_014625.3(NPHS2): c.686G> A (p.Arg229Gln) single nucleotide variant risk factor rs61747728 GRCh38 Chromosome 1, 179557079: 179557079
30 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh37 Chromosome 1, 179521743: 179521743
31 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs200482683 GRCh38 Chromosome 1, 179552608: 179552608
32 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh37 Chromosome 1, 179519880: 179519880
33 NPHS2 NM_014625.3(NPHS2): c.*428A> G single nucleotide variant Benign rs1060775 GRCh38 Chromosome 1, 179550745: 179550745
34 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh37 Chromosome 1, 179520050: 179520050
35 NPHS2 NM_014625.3(NPHS2): c.*258A> G single nucleotide variant Likely benign rs2274622 GRCh38 Chromosome 1, 179550915: 179550915
36 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh38 Chromosome 1, 179550973: 179550973
37 NPHS2 NM_014625.3(NPHS2): c.*200G> A single nucleotide variant Likely benign rs2274623 GRCh37 Chromosome 1, 179520108: 179520108
38 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh37 Chromosome 1, 179520151: 179520151
39 NPHS2 NM_014625.3(NPHS2): c.*157G> A single nucleotide variant Benign rs1410590 GRCh38 Chromosome 1, 179551016: 179551016
40 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh38 Chromosome 1, 179552664: 179552664
41 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 GRCh37 Chromosome 1, 179521799: 179521799
42 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh37 Chromosome 1, 179544885: 179544885
43 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 GRCh38 Chromosome 1, 179575750: 179575750
44 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh37 Chromosome 1, 179545050: 179545050
45 NPHS2 NM_014625.3(NPHS2): c.-51G> T single nucleotide variant Likely benign rs12406197 GRCh38 Chromosome 1, 179575915: 179575915
46 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh37 Chromosome 1, 179545051: 179545051
47 NPHS2 NM_014625.3(NPHS2): c.-52C> G single nucleotide variant Likely benign rs78541594 GRCh38 Chromosome 1, 179575916: 179575916
48 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh38 Chromosome 1, 179551287: 179551287
49 NPHS2 NM_014625.3(NPHS2): c.1038A> G (p.Leu346=) single nucleotide variant Benign/Likely benign rs3818587 GRCh37 Chromosome 1, 179520422: 179520422
50 NPHS2 NM_014625.3(NPHS2): c.954C> T (p.Ala318=) single nucleotide variant Benign/Likely benign rs1410592 GRCh37 Chromosome 1, 179520506: 179520506

Expression for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

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Pathways for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

GO Terms for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

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