MCID: IDP095
MIFTS: 23

Idiopathic Steroid-Resistant Nephrotic Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Idiopathic Steroid-Resistant Nephrotic Syndrome

MalaCards integrated aliases for Idiopathic Steroid-Resistant Nephrotic Syndrome:

Name: Idiopathic Steroid-Resistant Nephrotic Syndrome 58
Nephrotic Syndrome, Idiopathic, Steroid-Resistant 29 6
Idiopathic Srns 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Orphanet 58 ORPHA567548

Summaries for Idiopathic Steroid-Resistant Nephrotic Syndrome

MalaCards based summary : Idiopathic Steroid-Resistant Nephrotic Syndrome, also known as nephrotic syndrome, idiopathic, steroid-resistant, is related to frasier syndrome and focal segmental glomerulosclerosis. An important gene associated with Idiopathic Steroid-Resistant Nephrotic Syndrome is NPHS2 (NPHS2 Stomatin Family Member, Podocin), and among its related pathways/superpathways is Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, and related phenotype is renal/urinary system.

Related Diseases for Idiopathic Steroid-Resistant Nephrotic Syndrome

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 frasier syndrome 31.8 SMARCAL1 NPHS2
2 focal segmental glomerulosclerosis 31.8 SMARCAL1 NPHS2 ALB
3 glomerulonephritis 30.3 NPHS2 ALB
4 idiopathic nephrotic syndrome 30.3 NPHS2 ALB
5 lipoid nephrosis 30.3 NPHS2 ALB
6 nephrotic syndrome 30.0 SMARCAL1 NPHS2 ALB
7 membranous nephropathy 29.8 NPHS2 ALB
8 end stage renal failure 29.8 NPHS2 ALB
9 iga glomerulonephritis 29.7 NPHS2 ALB
10 schimke immunoosseous dysplasia 29.6 SMARCAL1 NPHS2
11 immuno-osseous dysplasia 29.5 SMARCAL1 ALB
12 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy 12.7
13 obsolete: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 12.7
14 obsolete: familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 12.7
15 obsolete: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 12.7
16 obsolete: sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 12.7
17 obsolete: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 12.7
18 obsolete: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 12.7
19 obsolete: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 12.7
20 obsolete: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 12.7
21 obsolete: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 12.7
22 genetic steroid-resistant nephrotic syndrome 12.3
23 mesangial proliferative glomerulonephritis 10.4
24 membranoproliferative glomerulonephritis 10.2
25 proliferative glomerulonephritis 10.2
26 focal segmental glomerulosclerosis 2 10.1
27 hypothyroidism 10.1
28 hypertrichosis 10.1
29 alopecia 10.1
30 glomerular disease 9.8 NPHS2 ALB
31 kidney hypertrophy 9.8 NPHS2 ALB
32 acute proliferative glomerulonephritis 9.8 NPHS2 ALB
33 danubian endemic familial nephropathy 9.8 NPHS2 ALB
34 galloway-mowat syndrome 9.5 SMARCAL1 NPHS2
35 chronic kidney disease 9.4 NPHS2 ALB

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



Diseases related to Idiopathic Steroid-Resistant Nephrotic Syndrome

Symptoms & Phenotypes for Idiopathic Steroid-Resistant Nephrotic Syndrome

MGI Mouse Phenotypes related to Idiopathic Steroid-Resistant Nephrotic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 ALB NPHS2 SMARCAL1

Drugs & Therapeutics for Idiopathic Steroid-Resistant Nephrotic Syndrome

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

Genetic Tests for Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic tests related to Idiopathic Steroid-Resistant Nephrotic Syndrome:

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

Anatomical Context for Idiopathic Steroid-Resistant Nephrotic Syndrome

MalaCards organs/tissues related to Idiopathic Steroid-Resistant Nephrotic Syndrome:

40
Kidney

Publications for Idiopathic Steroid-Resistant Nephrotic Syndrome

Articles related to Idiopathic Steroid-Resistant Nephrotic Syndrome:

(show all 36)
# Title Authors PMID Year
1
Interventions for idiopathic steroid-resistant nephrotic syndrome in children. 61
31749142 2019
2
Treatment of Genetic Forms of Nephrotic Syndrome. 61
29632851 2018
3
Non-Autoimmune Subclinical and Overt Hypothyroidism in Idiopathic Steroid-resistant Nephrotic Syndrome in Children. 61
28849770 2017
4
Mycophenolate mofetil is inferior to tacrolimus in sustaining remission in children with idiopathic steroid-resistant nephrotic syndrome. 61
28318625 2017
5
Childhood idiopathic steroid-resistant nephrotic syndrome at a Single Center in Khartoum. 61
28748888 2017
6
Interventions for idiopathic steroid-resistant nephrotic syndrome in children. 61
27726125 2016
7
Childhood Idiopathic Steroid Resistant Nephrotic Syndrome, Different Drugs And Outcome. 61
28718558 2016
8
Favorable outcome in children with idiopathic steroid-resistant nephrotic syndrome due to mesangial hypercellularity: A distinct disease entity? 61
26493069 2016
9
Long-term outcome of idiopathic steroid-resistant nephrotic syndrome in children: response to comments. 61
26628279 2016
10
Long-term outcome of idiopathic steroid-resistant nephrotic syndrome in children. 61
26335197 2016
11
Cyclosporine in the treatment of childhood idiopathic steroid resistant nephrotic syndrome: a single centre experience in Nigeria. 61
28293374 2016
12
HISTOPATHOLOGICAL PATTERNS IN PAEDIATRIC IDIOPATHIC STEROID RESISTANT NEPHROTIC SYNDROME. 61
26721026 2015
13
Effect of galactose on glomerular permeability and proteinuria in steroid-resistant nephrotic syndrome. 61
23793883 2013
14
R: Histological patterns of idiopathic steroid resistant nephrotic syndrome in Egyptian children: A single centre study. 61
24475443 2013
15
Histological patterns of idiopathic steroid resistant nephrotic syndrome in Egyptian children: A single centre study. 61
24475425 2013
16
Distinct metabolic profile of primary focal segmental glomerulosclerosis revealed by NMR-based metabolomics. 61
24244321 2013
17
Treatment with tacrolimus and prednisolone is preferable to intravenous cyclophosphamide as the initial therapy for children with steroid-resistant nephrotic syndrome. 61
22763815 2012
18
[Idiopathic steroid-resistant nephrotic syndrome in child : study of 20 cases]. 61
21681713 2011
19
Rituximab for refractory cases of childhood nephrotic syndrome. 61
21279725 2011
20
Histopathological spectrum of childhood idiopathic steroid-resistant nephrotic syndrome in Tunisia. 61
21387228 2011
21
Interventions for idiopathic steroid-resistant nephrotic syndrome in children. 61
21069676 2010
22
Childhood idiopathic steroid resistant nephrotic syndrome in Southwestern Nigeria. 61
20814150 2010
23
Cyclosporine A and steroid therapy in childhood steroid-resistant nephrotic syndrome. 61
21694937 2010
24
The long-term results of pediatric patients with primary focal and segmental glomerulosclerosis. 61
20061699 2010
25
Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study. 61
19280229 2009
26
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 61
19127206 2009
27
Pathophysiology of focal segmental glomerulosclerosis. 61
17216262 2007
28
The clinical effectiveness and cost-effectiveness of treatments for children with idiopathic steroid-resistant nephrotic syndrome: a systematic review. 61
17537341 2007
29
Interventions for idiopathic steroid-resistant nephrotic syndrome in children. 61
16625586 2006
30
Short term efficacy of intravenous dexamethasone and methylprednisolone therapy in steroid resistant nephrotic syndrome. 61
15523124 2004
31
Interventions for idiopathic steroid-resistant nephrotic syndrome in children. 61
15106208 2004
32
Pulse methylprednisolone treatment of idiopathic steroid-resistant nephrotic syndrome. 61
11956887 2002
33
Treatment of focal glomerulosclerosis with pulse steroids and oral cyclophosphamide. 61
11685598 2001
34
Pulse methylprednisolone treatment of idiopathic steroid-resistant nephrotic syndrome. 61
11322372 2001
35
Long-term therapy with enalapril in patients with nephrotic-range proteinuria. 61
8897561 1996
36
Recurrent nephrotic syndrome with three successive renal allografts. 61
6758572 1981

Variations for Idiopathic Steroid-Resistant Nephrotic Syndrome

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

6 (show top 50) (show all 90) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHS2 NM_144696.6(AXDND1):c.3032-3135deldeletion Pathogenic 188990 rs775170915 1:179520512-179520512 1:179551377-179551377
2 NPHS2 NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu)SNV Pathogenic 222762 rs869025495 1:179533850-179533850 1:179564715-179564715
3 NPHS2 NM_144696.6(AXDND1):c.3032-1848G>ASNV Pathogenic 224482 rs869312747 1:179521799-179521799 1:179552664-179552664
4 NPHS2 NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter)SNV Pathogenic 224481 rs869312746 1:179544885-179544885 1:179575750-179575750
5 NPHS2 NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys)SNV Pathogenic 5366 rs74315345 1:179544726-179544726 1:179575591-179575591
6 NPHS2 NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly)SNV Pathogenic 5367 rs74315346 1:179528869-179528869 1:179559734-179559734
7 NPHS2 NM_014625.3(NPHS2):c.538G>A (p.Val180Met)SNV Pathogenic 5368 rs74315347 1:179526362-179526362 1:179557227-179557227
8 NPHS2 NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter)SNV Pathogenic 5361 rs74315343 1:179530463-179530463 1:179561328-179561328
9 NPHS2 NPHS2, 1-BP DEL, 419Gdeletion Pathogenic 5363
10 NPHS2 NM_014625.3(NPHS2):c.452-1G>ASNV Pathogenic 397592 rs1060499703 1:179528897-179528897 1:179559762-179559762
11 NPHS2 NM_014625.3(NPHS2):c.104dup (p.Arg36fs)duplication Pathogenic 447876 rs1320543506 1:179544895-179544896 1:179575760-179575761
12 NPHS2 NM_014625.3(NPHS2):c.535-1G>TSNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
13 NPHS2 NM_014625.3(NPHS2):c.385C>T (p.Gln129Ter)SNV Pathogenic 555037 rs755972674 1:179530490-179530490 1:179561355-179561355
14 NPHS2 NM_014625.3(NPHS2):c.211C>T (p.Arg71Ter)SNV Pathogenic 549953 rs1462028977 1:179544789-179544789 1:179575654-179575654
15 NPHS2 NM_014625.3(NPHS2):c.378+1G>ASNV Pathogenic 553168 rs762631237 1:179533824-179533824 1:179564689-179564689
16 NPHS2 NM_144696.6(AXDND1):c.3032-3116T>ASNV Pathogenic 635511 1:179520531-179520531 1:179551396-179551396
17 NPHS2 NM_014625.4(NPHS2):c.823dup (p.Gln275fs)duplication Pathogenic 635471 1:179521787-179521788 1:179552652-179552653
18 NPHS2 NM_014625.4(NPHS2):c.981del (p.Gln328fs)deletion Pathogenic 801581 1:179520479-179520479 1:179551344-179551344
19 NPHS2 NM_014625.4(NPHS2):c.576_577del (p.Ile192fs)deletion Pathogenic 807638 1:179526323-179526324 1:179557188-179557189
20 NPHS2 NM_014625.3(NPHS2):c.156del (p.Thr53fs)deletion Pathogenic/Likely pathogenic 495108 rs1272948499 1:179544844-179544844 1:179575709-179575709
21 NPHS2 NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser)SNV Pathogenic/Likely pathogenic 556556 rs748812981 1:179526186-179526186 1:179557051-179557051
22 NPHS2 NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter)SNV Pathogenic/Likely pathogenic 370159 rs778055996 1:179526257-179526257 1:179557122-179557122
23 NPHS2 NM_144696.6(AXDND1):c.3032-1904C>TSNV Pathogenic/Likely pathogenic 126418 rs200482683 1:179521743-179521743 1:179552608-179552608
24 NPHS2 NM_144696.6(AXDND1):c.3032-1907G>ASNV Pathogenic/Likely pathogenic 5369 rs74315348 1:179521740-179521740 1:179552605-179552605
25 NPHS2 NM_144696.6(AXDND1):c.3032-1891_3032-1890deldeletion Pathogenic/Likely pathogenic 188823 rs749740335 1:179521755-179521756 1:179552620-179552621
26 NPHS2 NM_014625.3(NPHS2):c.503G>A (p.Arg168His)SNV Pathogenic/Likely pathogenic 188730 rs530318579 1:179528845-179528845 1:179559710-179559710
27 NPHS2 NM_014625.3(NPHS2):c.502C>T (p.Arg168Cys)SNV Likely pathogenic 188952 rs786204583 1:179528846-179528846 1:179559711-179559711
28 NPHS2 NM_014625.3(NPHS2):c.451+2T>ASNV Likely pathogenic 189111 rs786204708 1:179530422-179530422 1:179561287-179561287
29 NPHS2 NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter)SNV Likely pathogenic 188892 rs12568913 1:179526314-179526314 1:179557179-179557179
30 NPHS2 NM_144696.6(AXDND1):c.3032-3249dupduplication Likely pathogenic 370964 rs1057516900 1:179520397-179520398 1:179551262-179551263
31 NPHS2 NM_144696.6(AXDND1):c.3032-3151G>ASNV Likely pathogenic 371673 rs763818901 1:179520496-179520496 1:179551361-179551361
32 NPHS2 NM_144696.6(AXDND1):c.3032-3077G>ASNV Likely pathogenic 370718 rs199506378 1:179520570-179520570 1:179551435-179551435
33 NPHS2 NM_144696.6(AXDND1):c.3032-1895G>ASNV Likely pathogenic 371301 rs1057517164 1:179521752-179521752 1:179552617-179552617
34 NPHS2 NM_144696.6(AXDND1):c.3032-1830C>TSNV Likely pathogenic 370486 rs1057516523 1:179521817-179521817 1:179552682-179552682
35 NPHS2 NM_014625.3(NPHS2):c.685C>T (p.Arg229Ter)SNV Likely pathogenic 370340 rs1057516414 1:179526215-179526215 1:179557080-179557080
36 NPHS2 NM_014625.3(NPHS2):c.369del (p.Cys124fs)deletion Likely pathogenic 370315 rs1057516395 1:179533834-179533834 1:179564699-179564699
37 NPHS2 NM_014625.3(NPHS2):c.138_142dup (p.Ser48fs)duplication Likely pathogenic 370759 rs1057516747 1:179544857-179544858 1:179575722-179575723
38 NPHS2 NM_014625.3(NPHS2):c.95_96insTA (p.Gly33fs)insertion Likely pathogenic 370936 rs1057516880 1:179544904-179544905 1:179575769-179575770
39 NPHS2 NM_014625.3(NPHS2):c.3G>A (p.Met1Ile)SNV Likely pathogenic 370679 rs1057516680 1:179544997-179544997 1:179575862-179575862
40 NPHS2 NM_144696.6(AXDND1):c.3032-3060C>TSNV Likely pathogenic 552959 rs776016942 1:179520587-179520587 1:179551452-179551452
41 NPHS2 NM_144696.6(AXDND1):c.3032-3059T>GSNV Likely pathogenic 552789 rs1031744496 1:179520588-179520588 1:179551453-179551453
42 NPHS2 NM_144696.6(AXDND1):c.3032-1910C>TSNV Likely pathogenic 555445 rs1553312833 1:179521737-179521737 1:179552602-179552602
43 NPHS2 NM_144696.6(AXDND1):c.3032-1911A>TSNV Likely pathogenic 552884 rs967339926 1:179521736-179521736 1:179552601-179552601
44 NPHS2 NM_144696.6(AXDND1):c.3032-1898C>TSNV Likely pathogenic 556281 rs1490010141 1:179521749-179521749 1:179552614-179552614
45 NPHS2 NM_014625.3(NPHS2):c.249del (p.Leu84fs)deletion Likely pathogenic 557597 rs1553316575 1:179544751-179544751 1:179575616-179575616
46 NPHS2 NM_014625.3(NPHS2):c.738+2T>CSNV Likely pathogenic 553546 rs1212702104 1:179526160-179526160 1:179557025-179557025
47 NPHS2 NM_014625.3(NPHS2):c.166G>T (p.Glu56Ter)SNV Likely pathogenic 555448 rs1167223941 1:179544834-179544834 1:179575699-179575699
48 NPHS2 NM_014625.3(NPHS2):c.166dup (p.Glu56fs)duplication Likely pathogenic 557323 rs1553316611 1:179544833-179544834 1:179575698-179575699
49 NPHS2 NM_014625.3(NPHS2):c.275-2A>GSNV Likely pathogenic 557752 rs1553315173 1:179533930-179533930 1:179564795-179564795
50 NPHS2 NM_014625.3(NPHS2):c.102delinsGG (p.Arg36fs)indel Likely pathogenic 551115 rs1553316648 1:179544898-179544898 1:179575763-179575763

Expression for Idiopathic Steroid-Resistant Nephrotic Syndrome

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

Pathways for Idiopathic Steroid-Resistant Nephrotic Syndrome

Pathways related to Idiopathic Steroid-Resistant Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 SMARCAL1 NPHS2

GO Terms for Idiopathic Steroid-Resistant Nephrotic Syndrome

Sources for Idiopathic Steroid-Resistant Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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