SRN1
MCID: NPH026
MIFTS: 20

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 53 29 6
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive 53 72
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome 53
Familial Idiopathic Nephrotic Syndrome 53
Srn1 53

Classifications:



External Ids:

UMLS 72 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 31.6 NPHS2 AXDND1
2 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 12.8
3 nephrotic syndrome, type 6 11.9
4 nephrotic syndrome 10.2
5 focal segmental glomerulosclerosis 10.2
6 end stage renal failure 10.2
7 idiopathic 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

Search Clinical Trials , 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

Articles related to Nephrotic Syndrome, Idiopathic, Steroid-Resistant:

(show all 31)
# Title Authors PMID Year
1
Aminofutalosine Synthase: Evidence for Captodative and Aryl Radical Intermediates Using β-Scission and SRN1 Trapping Reactions. 38
28701039 2017
2
Enhanced Cd extraction of oilseed rape (Brassica napus) by plant growth-promoting bacteria isolated from Cd hyperaccumulator Sedum alfredii Hance. 38
27593491 2017
3
Effect of solvent on radical cyclisation pathways: SRN1 vs. aryl-aryl bond forming mechanisms. 38
28050609 2017
4
Synthesis of Dibenzosultams by "Transition-Metal-Free" Photoinduced Intramolecular Arylation of N-Aryl-2-halobenzenesulfonamides. 38
27166973 2016
5
KOtBu: A Privileged Reagent for Electron Transfer Reactions? 38
27183183 2016
6
Transition-Metal-Free Self-Hydrogen-Transferring Allylic Isomerization. 38
26618248 2015
7
Photochemical Conversion of Phenanthro[9,10-d]imidazoles into π-Expanded Heterocycles. 38
25938658 2015
8
“Transition-metal-free” synthesis of carbazoles by photostimulated reactions of 2′-halo[1,1′-biphenyl]-2-amines. 38
25490433 2015
9
The electron is a catalyst. 38
25143210 2014
10
Preparation of SRN1-type coupling adducts from aliphatic gem-dinitro compounds in ionic liquids. 38
22534663 2012
11
Novel water-soluble near-infrared cyanine dyes: synthesis, spectral properties, and use in the preparation of internally quenched fluorescent probes. 38
17583926 2007
12
Radical nucleophilic substitution of 2-(4-halophenyl)-2-methyl-1-chloropropane with enolate ions of ketones. 38
17367191 2007
13
Effect of chain length on radical to carbanion cyclo-coupling of bromoaryl alkyl-linked oxazolines: 1,3-areneotropic migration of oxazolines. 38
17253809 2007
14
Syntheses of aporphine and homoaporphine alkaloids by intramolecular ortho-arylation of phenols with aryl halides via SRN1 reactions in liquid ammonia. 38
17064025 2006
15
Synthesis of functionalized diaryldimethylstannanes from the Me2Sn2- dianion by SRN1 reactions. 38
16238355 2005
16
Nucleophilic radical substitution reaction of triazine herbicides with polysulfides. 38
15537317 2004
17
Sequential reactions of trimethylstannyl anions with vinyl chlorides and dichlorides by the SRN1 mechanism followed by palladium-catalyzed cross-coupling processes. 38
15357604 2004
18
Photostimulated reactions of vinyl phosphate esters with triorganostannides. evidence for an SRN1 vinylic mechanism. 38
15153012 2004
19
Diastereoselective C-arylation of prochiral enolates by the SRN1 reaction. 38
15034903 2004
20
Syntheses of 2-substituted indoles and fused indoles by photostimulated reactions of o-iodoanilines with carbanions by the SRN1 mechanism. 38
12662056 2003
21
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 38
11854170 2002
22
A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. 38
10966492 2000
23
Efficacy of new 5-nitroimidazoles against metronidazole-susceptible and -resistant Giardia, Trichomonas, and Entamoeba spp. 38
9869568 1999
24
Glucose repression on RIM1, a gene encoding a mitochondrial single-stranded DNA-binding protein, in Saccharomyces cerevisiae: a possible regulation at pre-mRNA splicing. 38
9871116 1998
25
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. 38
8589695 1995
26
Extragenic suppressors of Saccharomyces cerevisiae prp4 mutations identify a negative regulator of PRP genes. 38
8005438 1994
27
ADH2 expression is repressed by REG1 independently of mutations that alter the phosphorylation of the yeast transcription factor ADR1. 38
8321238 1993
28
SRN1, a yeast gene involved in RNA processing, is identical to HEX2/REG1, a negative regulator in glucose repression. 38
1588964 1992
29
Control of leech swimming activity by the cephalic ganglia. 38
3794692 1986
30
Sporulation and rna2 lower ribosomal protein mRNA levels by different mechanisms in Saccharomyces cerevisiae. 38
6757716 1982
31
A suppressor of temperature-sensitive rna mutations that affect mRNA metabolism in Saccharomyces cerevisiae. 38
7050675 1982

Variations for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

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

6 (show top 50) (show all 87)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NPHS2 NM_014625.3(NPHS2): c.452-1G> A single nucleotide variant Pathogenic rs1060499703 1:179528897-179528897 1:179559762-179559762
2 NPHS2 NM_014625.3(NPHS2): c.104dup (p.Arg36fs) duplication Pathogenic rs1320543506 1:179544896-179544896 1:179575761-179575761
3 NPHS2 NM_014625.3(NPHS2): c.535-1G> T single nucleotide variant Pathogenic rs1291398331 1:179526366-179526366 1:179557231-179557231
4 NPHS2 NM_014625.3(NPHS2): c.385C> T (p.Gln129Ter) single nucleotide variant Pathogenic rs755972674 1:179530490-179530490 1:179561355-179561355
5 NPHS2 NM_014625.3(NPHS2): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs1462028977 1:179544789-179544789 1:179575654-179575654
6 NPHS2 NM_014625.3(NPHS2): c.378+1G> A single nucleotide variant Pathogenic rs762631237 1:179533824-179533824 1:179564689-179564689
7 NPHS2 NM_014625.3(NPHS2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs74315343 1:179530463-179530463 1:179561328-179561328
8 NPHS2 NPHS2, 1-BP DEL, 419G deletion Pathogenic
9 NPHS2 NM_014625.3(NPHS2): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs74315345 1:179544726-179544726 1:179575591-179575591
10 NPHS2 NM_014625.3(NPHS2): c.479A> G (p.Asp160Gly) single nucleotide variant Pathogenic rs74315346 1:179528869-179528869 1:179559734-179559734
11 NPHS2 NM_014625.3(NPHS2): c.353C> T (p.Pro118Leu) single nucleotide variant Pathogenic rs869025495 1:179533850-179533850 1:179564715-179564715
12 NPHS2 NM_014625.3(NPHS2): c.812C> T (p.Pro271Leu) single nucleotide variant Pathogenic rs869312747 1:179521799-179521799 1:179552664-179552664
13 NPHS2 NM_014625.3(NPHS2): c.115C> T (p.Gln39Ter) single nucleotide variant Pathogenic rs869312746 1:179544885-179544885 1:179575750-179575750
14 NPHS2 NM_014625.3(NPHS2): c.929A> T (p.Glu310Val) single nucleotide variant Pathogenic 1:179520531-179520531 1:179551396-179551396
15 NPHS2 NM_014625.3(NPHS2): c.823dup (p.Gln275fs) duplication Pathogenic 1:179521788-179521788 1:179552653-179552653
16 NPHS2 NM_014625.3(NPHS2): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic/Likely pathogenic rs530318579 1:179528845-179528845 1:179559710-179559710
17 NPHS2 NM_014625.3(NPHS2): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic/Likely pathogenic rs200482683 1:179521743-179521743 1:179552608-179552608
18 NPHS2 NM_014625.3(NPHS2): c.948del (p.Ala317fs) deletion Pathogenic/Likely pathogenic rs775170915 1:179520512-179520512 1:179551377-179551377
19 NPHS2 NM_014625.3(NPHS2): c.855_856del (p.Arg286fs) deletion Pathogenic/Likely pathogenic rs749740335 1:179521755-179521756 1:179552620-179552621
20 NPHS2 NM_014625.3(NPHS2): c.538G> A (p.Val180Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315347 1:179526362-179526362 1:179557227-179557227
21 NPHS2 NM_014625.3(NPHS2): c.871C> T (p.Arg291Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315348 1:179521740-179521740 1:179552605-179552605
22 NPHS2 NM_014625.3(NPHS2): c.714G> T (p.Arg238Ser) single nucleotide variant Pathogenic/Likely pathogenic rs748812981 1:179526186-179526186 1:179557051-179557051
23 NPHS2 NM_014625.3(NPHS2): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic/Likely pathogenic rs778055996 1:179526257-179526257 1:179557122-179557122
24 NPHS2 NM_014625.3(NPHS2): c.369del (p.Cys124fs) deletion Likely pathogenic rs1057516395 1:179533834-179533834 1:179564699-179564699
25 NPHS2 NM_014625.3(NPHS2): c.138_142dup (p.Ser48fs) duplication Likely pathogenic rs1057516747 1:179544858-179544862 1:179575723-179575727
26 NPHS2 NM_014625.3(NPHS2): c.95_96insTA (p.Gly33fs) insertion Likely pathogenic rs1057516880 1:179544904-179544905 1:179575769-179575770
27 NPHS2 NM_014625.3(NPHS2): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1057516680 1:179544997-179544997 1:179575862-179575862
28 NPHS2 NM_014625.3(NPHS2): c.1062dup (p.Asn355fs) duplication Likely pathogenic rs1057516900 1:179520398-179520398 1:179551263-179551263
29 NPHS2 NM_014625.3(NPHS2): c.964C> T (p.Arg322Ter) single nucleotide variant Likely pathogenic rs763818901 1:179520496-179520496 1:179551361-179551361
30 NPHS2 NM_014625.3(NPHS2): c.890C> T (p.Ala297Val) single nucleotide variant Likely pathogenic rs199506378 1:179520570-179520570 1:179551435-179551435
31 NPHS2 NM_014625.3(NPHS2): c.859C> T (p.Gln287Ter) single nucleotide variant Likely pathogenic rs1057517164 1:179521752-179521752 1:179552617-179552617
32 NPHS2 NM_014625.3(NPHS2): c.795-1G> A single nucleotide variant Likely pathogenic rs1057516523 1:179521817-179521817 1:179552682-179552682
33 NPHS2 NM_014625.3(NPHS2): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic rs1057516414 1:179526215-179526215 1:179557080-179557080
34 NPHS2 NM_014625.3(NPHS2): c.874-1G> A single nucleotide variant Likely pathogenic rs776016942 1:179520587-179520587 1:179551452-179551452
35 NPHS2 NM_014625.3(NPHS2): c.874-2A> C single nucleotide variant Likely pathogenic rs1031744496 1:179520588-179520588 1:179551453-179551453
36 NPHS2 NM_014625.3(NPHS2): c.156del (p.Thr53fs) deletion Likely pathogenic rs1272948499 1:179544844-179544844 1:179575709-179575709
37 NPHS2 NM_014625.3(NPHS2): c.738+2T> C single nucleotide variant Likely pathogenic rs1212702104 1:179526160-179526160 1:179557025-179557025
38 NPHS2 NM_014625.3(NPHS2): c.249del (p.Leu84fs) deletion Likely pathogenic rs1553316575 1:179544750-179544751 1:179575616-179575616
39 NPHS2 NM_014625.3(NPHS2): c.873+1G> A single nucleotide variant Likely pathogenic rs1553312833 1:179521737-179521737 1:179552602-179552602
40 NPHS2 NM_014625.3(NPHS2): c.873+2T> A single nucleotide variant Likely pathogenic rs967339926 1:179521736-179521736 1:179552601-179552601
41 NPHS2 NM_014625.3(NPHS2): c.862G> A (p.Ala288Thr) single nucleotide variant Likely pathogenic rs1490010141 1:179521749-179521749 1:179552614-179552614
42 NPHS2 NM_014625.3(NPHS2): c.166G> T (p.Glu56Ter) single nucleotide variant Likely pathogenic rs1167223941 1:179544834-179544834 1:179575699-179575699
43 NPHS2 NM_014625.3(NPHS2): c.275-2A> G single nucleotide variant Likely pathogenic rs1553315173 1:179533930-179533930 1:179564795-179564795
44 NPHS2 NM_014625.3(NPHS2): c.102delinsGG (p.Arg36fs) indel Likely pathogenic rs1553316648 1:179544897-179544898 1:179575763-179575763
45 NPHS2 NM_014625.3(NPHS2): c.166dup (p.Glu56fs) duplication Likely pathogenic rs1553316611 1:179544833-179544833 1:179575699-179575699
46 NPHS2 NM_014625.3(NPHS2): c.586C> T (p.Arg196Ter) single nucleotide variant Likely pathogenic rs12568913 1:179526314-179526314 1:179557179-179557179
47 NPHS2 NM_014625.3(NPHS2): c.502C> T (p.Arg168Cys) single nucleotide variant Likely pathogenic rs786204583 1:179528846-179528846 1:179559711-179559711
48 NPHS2 NM_014625.3(NPHS2): c.451+2T> A single nucleotide variant Likely pathogenic rs786204708 1:179530422-179530422 1:179561287-179561287
49 NPHS2 NM_014625.3(NPHS2): c.479A> T (p.Asp160Val) single nucleotide variant Likely pathogenic 1:179528869-179528869 1:179559734-179559734
50 NPHS2 NM_014625.3(NPHS2): c.167del (p.Glu56fs) deletion Likely pathogenic 1:179544833-179544833 1:179575698-179575698

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

Sources for Nephrotic Syndrome, Idiopathic, Steroid-Resistant

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