MCID: GNT182
MIFTS: 22

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 proteinuria, chronic benign and glomerulonephritis. An important gene associated with Genetic Nephrotic Syndrome is WT1 (WT1 Transcription Factor), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. Related phenotype is renal/urinary system.

Related Diseases for Genetic Nephrotic Syndrome

Diseases related to Genetic Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 proteinuria, chronic benign 29.7 NPHS2 NPHS1
2 glomerulonephritis 29.5 NPHS2 NPHS1
3 nephrotic syndrome, type 2 29.1 WT1 NPHS2 NPHS1
4 diffuse mesangial sclerosis 29.0 WT1 NPHS2 NPHS1
5 genetic steroid-resistant nephrotic syndrome 29.0 WT1 NPHS2 NPHS1
6 focal segmental glomerulosclerosis 29.0 WT1 NPHS2 NPHS1
7 nephrotic syndrome 29.0 WT1 NPHS2 NPHS1
8 kidney disease 28.9 WT1 NPHS2 NPHS1
9 chronic kidney disease 28.9 WT1 NPHS2 NPHS1
10 idiopathic nephrotic syndrome 9.9
11 glomerular disease 9.9
12 congenital syphilis 9.8 NPHS2 NPHS1
13 oligomeganephronia 9.8 NPHS2 NPHS1
14 human cytomegalovirus infection 9.8
15 kidney hypertrophy 9.8 NPHS2 NPHS1
16 nephrotic syndrome, type 10 9.8 NPHS2 NPHS1
17 focal segmental glomerulosclerosis 2 9.8 NPHS2 NPHS1
18 membranoproliferative glomerulonephritis 9.8 WT1 NPHS1
19 acute proliferative glomerulonephritis 9.8 NPHS2 NPHS1
20 hypoparathyroidism, sensorineural deafness, and renal disease 9.8 NPHS2 NPHS1
21 focal segmental glomerulosclerosis 1 9.8 NPHS2 NPHS1
22 lipoid nephrosis 9.7 NPHS2 NPHS1
23 nephrosclerosis 9.7 NPHS2 NPHS1
24 crescentic glomerulonephritis 9.7 WT1 NPHS2
25 galloway-mowat syndrome 9.7 NPHS2 NPHS1
26 iga glomerulonephritis 9.6 NPHS2 NPHS1
27 alport syndrome 9.6 NPHS2 NPHS1
28 nephrotic syndrome, type 1 9.5 WT1 NPHS2 NPHS1
29 pierson syndrome 9.5 WT1 NPHS2 NPHS1
30 familial nephrotic syndrome 9.5 WT1 NPHS2 NPHS1
31 frasier syndrome 9.5 WT1 NPHS2 NPHS1
32 denys-drash syndrome 9.5 WT1 NPHS2 NPHS1
33 nail-patella syndrome 9.5 WT1 NPHS2 NPHS1
34 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.5 WT1 NPHS2 NPHS1
35 membranous nephropathy 9.5 WT1 NPHS2 NPHS1
36 end stage renal disease 9.5 NPHS2 NPHS1
37 wilms tumor 1 9.4 WT1 NPHS2 NPHS1

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



Diseases related to Genetic Nephrotic Syndrome

Symptoms & Phenotypes for Genetic Nephrotic Syndrome

MGI Mouse Phenotypes related to Genetic Nephrotic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 NPHS1 NPHS2 WT1

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

Publications for Genetic Nephrotic Syndrome

Articles related to Genetic Nephrotic Syndrome:

(show all 44)
# Title Authors PMID Year
1
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria. 6
24161391 2013
2
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 6
23515051 2013
3
WT1 gene mutations in Chinese children with early onset nephrotic syndrome. 6
20442690 2010
4
Single gene disorders. 6
19484379 2008
5
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 6
9499425 1998
6
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 6
9398852 1997
7
Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report. 61
33578576 2021
8
Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4. 61
33033902 2020
9
[State-of-the-art research of mice models of hereditary nephrotic syndrome]. 61
32872720 2020
10
B cell phenotype in pediatric idiopathic nephrotic syndrome. 61
30267238 2019
11
Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings. 61
29259860 2017
12
A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q10 Supplementation. 61
28428331 2017
13
Genetics of hereditary nephrotic syndrome: a clinical review. 61
28392820 2017
14
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. 61
28335748 2017
15
An inducible mouse model of podocin-mutation-related nephrotic syndrome. 61
29049388 2017
16
Quantitative deep mapping of the cultured podocyte proteome uncovers shifts in proteostatic mechanisms during differentiation. 61
27357545 2016
17
The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes. 61
26792178 2016
18
Cytomegalovirus infection can mimic genetic nephrotic syndrome: a case report. 61
26395882 2015
19
Translating genetic findings in hereditary nephrotic syndrome: the missing loops. 61
25810439 2015
20
[The strategies of genetic diagnosis for hereditary nephrotic syndrome]. 61
25224246 2014
21
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. 61
24715228 2014
22
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome. 61
24293254 2014
23
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 61
23645318 2013
24
A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems. 61
23437316 2013
25
Gene expression analysis detected a low expression level of C1s gene in ICR-derived glomerulonephritis (ICGN) mice. 61
23989031 2013
26
[Recurrent prosthetic endocarditis in a 21-year old patient with renal transplantation treated with allogeneic homograft]. 61
22913243 2012
27
The struggle for energy in podocytes leads to nephrotic syndrome. 61
22433955 2012
28
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. 61
20333530 2010
29
Scratching behavior of ICR-derived glomerulonephritis (ICGN) mice. 61
20453449 2010
30
Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier. 61
19649571 2009
31
Localization of tissue transglutaminase (tTG) in kidney of ICR-derived glomerulonephritis (ICGN) mice. 61
19654435 2009
32
beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity. 61
16968782 2006
33
Transforming growth factor-beta1 mediated up-regulation of lysyl oxidase in the kidneys of hereditary nephrotic mouse with chronic renal fibrosis. 61
16086153 2005
34
Effect of human erythropoietin (hEPO) treatment on anemia in ICR-derived glomerulonephritis (ICGN) mice. 61
15897628 2005
35
Improvement of anemia associated with chronic renal failure by recombinant human erythropoietin treatment in ICR-derived glomerulonephritis (ICGN) mice. 61
15297765 2004
36
Anemia with chronic renal disorder and disrupted metabolism of erythropoietin in ICR-derived glomerulonephritis (ICGN) mice. 61
15133273 2004
37
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. 61
14570703 2003
38
Localization of extracellular matrix receptors in ICGN mice, a strain of mice with hereditary nephrotic syndrome. 61
11767049 2001
39
Localization of proliferative and apoptotic cells in the kidneys of ICR-derived glomerulonephritis (ICGN) mice. 61
11503906 2001
40
Decreased matrix metalloproteinase activity in the kidneys of hereditary nephrotic mice (ICGN strain). 61
11014984 2000
41
Abnormalities of extracellular matrices and transforming growth factor beta1 localization in the kidney of the hereditary nephrotic mice (ICGN strain). 61
10458099 1999
42
In vitro fertilization and microinsemination with round spermatids for propagation of nephrotic genes in mice. 61
16727871 1996
43
Early ultrastructural glomerular alterations in neonatal nephrotic mice (ICGN strain). 61
7604502 1995
44
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 NPHS2 NM_014625.4(NPHS2):c.535-1G>T SNV Pathogenic 504890 rs1291398331 1:179526366-179526366 1:179557231-179557231
2 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 11:32413514-32413514 11:32391968-32391968
3 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
4 NPHS1 NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) SNV Likely pathogenic 222761 rs114896482 19:36333389-36333389 19:35842487-35842487
5 WT1 NM_024426.6(WT1):c.1265G>T (p.Gly422Val) SNV Likely pathogenic 222890 rs869025561 11:32414301-32414301 11:32392755-32392755
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 10.67 WT1 NPHS2 NPHS1
2 10.37 NPHS2 NPHS1

GO Terms for Genetic Nephrotic Syndrome

Cellular components related to Genetic Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.96 NPHS2 NPHS1
2 slit diaphragm GO:0036057 8.62 NPHS2 NPHS1

Biological processes related to Genetic Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 8.96 NPHS2 NPHS1
2 glomerular basement membrane development GO:0032836 8.62 WT1 NPHS1

Sources for Genetic Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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