MCID: GNT182
MIFTS: 20

Genetic Nephrotic Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Genetic Nephrotic Syndrome

MalaCards integrated aliases for Genetic Nephrotic Syndrome:

Name: Genetic Nephrotic Syndrome 58
Hereditary Nephrotic Syndrome 58 29 6

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Orphanet 58 ORPHA564127

Summaries for Genetic Nephrotic Syndrome

MalaCards based summary : Genetic Nephrotic Syndrome, also known as hereditary nephrotic syndrome, is related to diffuse mesangial sclerosis and genetic steroid-resistant nephrotic syndrome. An important gene associated with Genetic 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, testes and b cells.

Related Diseases for Genetic Nephrotic Syndrome

Graphical network of the top 20 diseases related to Genetic Nephrotic Syndrome:



Diseases related to Genetic Nephrotic Syndrome

Symptoms & Phenotypes for Genetic Nephrotic Syndrome

Drugs & Therapeutics for Genetic Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Genetic Nephrotic Syndrome

Genetic Tests for Genetic Nephrotic Syndrome

Genetic tests related to Genetic Nephrotic Syndrome:

# Genetic test Affiliating Genes
1 Hereditary Nephrotic Syndrome 29

Anatomical Context for Genetic Nephrotic Syndrome

MalaCards organs/tissues related to Genetic Nephrotic Syndrome:

40
Kidney, Testes, B Cells

Publications for Genetic Nephrotic Syndrome

Articles related to Genetic Nephrotic Syndrome:

(show all 35)
# Title Authors PMID Year
1
B cell phenotype in pediatric idiopathic nephrotic syndrome. 61
30267238 2019
2
Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings. 61
29259860 2017
3
A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q10 Supplementation. 61
28428331 2017
4
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. 61
28335748 2017
5
Genetics of hereditary nephrotic syndrome: a clinical review. 61
28392820 2017
6
An inducible mouse model of podocin-mutation-related nephrotic syndrome. 61
29049388 2017
7
Quantitative deep mapping of the cultured podocyte proteome uncovers shifts in proteostatic mechanisms during differentiation. 61
27357545 2016
8
The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes. 61
26792178 2016
9
Cytomegalovirus infection can mimic genetic nephrotic syndrome: a case report. 61
26395882 2015
10
Translating genetic findings in hereditary nephrotic syndrome: the missing loops. 61
25810439 2015
11
[The strategies of genetic diagnosis for hereditary nephrotic syndrome]. 61
25224246 2014
12
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. 61
24715228 2014
13
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome. 61
24293254 2014
14
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 61
23645318 2013
15
A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems. 61
23437316 2013
16
Gene expression analysis detected a low expression level of C1s gene in ICR-derived glomerulonephritis (ICGN) mice. 61
23989031 2013
17
[Recurrent prosthetic endocarditis in a 21-year old patient with renal transplantation treated with allogeneic homograft]. 61
22913243 2012
18
The struggle for energy in podocytes leads to nephrotic syndrome. 61
22433955 2012
19
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. 61
20333530 2010
20
Scratching behavior of ICR-derived glomerulonephritis (ICGN) mice. 61
20453449 2010
21
Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier. 61
19649571 2009
22
Localization of tissue transglutaminase (tTG) in kidney of ICR-derived glomerulonephritis (ICGN) mice. 61
19654435 2009
23
beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity. 61
16968782 2006
24
Transforming growth factor-beta1 mediated up-regulation of lysyl oxidase in the kidneys of hereditary nephrotic mouse with chronic renal fibrosis. 61
16086153 2005
25
Effect of human erythropoietin (hEPO) treatment on anemia in ICR-derived glomerulonephritis (ICGN) mice. 61
15897628 2005
26
Improvement of anemia associated with chronic renal failure by recombinant human erythropoietin treatment in ICR-derived glomerulonephritis (ICGN) mice. 61
15297765 2004
27
Anemia with chronic renal disorder and disrupted metabolism of erythropoietin in ICR-derived glomerulonephritis (ICGN) mice. 61
15133273 2004
28
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. 61
14570703 2003
29
Localization of extracellular matrix receptors in ICGN mice, a strain of mice with hereditary nephrotic syndrome. 61
11767049 2001
30
Localization of proliferative and apoptotic cells in the kidneys of ICR-derived glomerulonephritis (ICGN) mice. 61
11503906 2001
31
Decreased matrix metalloproteinase activity in the kidneys of hereditary nephrotic mice (ICGN strain). 61
11014984 2000
32
Abnormalities of extracellular matrices and transforming growth factor beta1 localization in the kidney of the hereditary nephrotic mice (ICGN strain). 61
10458099 1999
33
In vitro fertilization and microinsemination with round spermatids for propagation of nephrotic genes in mice. 61
16727871 1996
34
Early ultrastructural glomerular alterations in neonatal nephrotic mice (ICGN strain). 61
7604502 1995
35
Hereditary nephrotic syndrome with progression to renal failure in a mouse model (ICGN strain): clinical study. 61
7830863 1994

Variations for Genetic Nephrotic Syndrome

ClinVar genetic disease variations for Genetic Nephrotic Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1):c.1447+5G>ASNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
2 WT1 NM_024426.6(WT1):c.1447+4C>TSNV Pathogenic 3500 rs587776577 11:32413514-32413514 11:32391968-32391968
3 NPHS2 NM_014625.3(NPHS2):c.535-1G>TSNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
4 WT1 NM_024426.6(WT1):c.1265G>T (p.Gly422Val)SNV Likely pathogenic 222890 rs869025561 11:32414301-32414301 11:32392755-32392755
5 NPHS1 NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys)SNV Conflicting interpretations of pathogenicity 222761 rs114896482 19:36333389-36333389 19:35842487-35842487
6 NPHS1 NM_004646.3(NPHS1):c.3173C>T (p.Ser1058Leu)SNV Uncertain significance 180466 rs201503587 19:36322658-36322658 19:35831756-35831756

Expression for Genetic Nephrotic Syndrome

Search GEO for disease gene expression data for Genetic Nephrotic Syndrome.

Pathways for Genetic Nephrotic Syndrome

Pathways related to Genetic Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 WT1 NPHS2

GO Terms for Genetic Nephrotic Syndrome

Sources for Genetic 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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