MCID: NPH047
MIFTS: 16

Nephrotic Syndrome, Type 4 malady

Nephrological, Genetic categories

Summaries for Nephrotic Syndrome, Type 4

Sources:
47OMIM, 33MalaCards
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MalaCards: Nephrotic Syndrome, Type 4, also known as familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis, is related to proteinuria and primary hyperoxaluria. An important gene associated with Nephrotic Syndrome, Type 4 is WT1 (Wilms tumor 1), and among its related pathways are Fc-GammaR-Mediated Phagocytosis in Macrophages and G-protein signaling RhoB regulation pathway. Related mouse phenotypes are renal/urinary system and cardiovascular system.

Description from OMIM:47 256370,610725,615244,614196

Aliases & Classifications for Nephrotic Syndrome, Type 4

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological


Aliases & Descriptions:

nephrotic syndrome, type 4 47
familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 49


External Ids:

ICD10 via Orphanet26 N04.8

Related Diseases for Nephrotic Syndrome, Type 4

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Nephrotic Syndrome, Type 4:



Diseases related to nephrotic syndrome, type 4

Clinical Features for Nephrotic Syndrome, Type 4

Sources:
47OMIM
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Clinical features from OMIM:

256370,610725,615244,614196

Clinical synopsis from OMIM:

256370

Drugs & Therapeutics for Nephrotic Syndrome, Type 4

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Nephrotic Syndrome, Type 4

Drug clinical trials:

Search ClinicalTrials for Nephrotic Syndrome, Type 4

Search NIH Clinical Center for Nephrotic Syndrome, Type 4

Search CenterWatch for Nephrotic Syndrome, Type 4

Genetic Tests for Nephrotic Syndrome, Type 4

Anatomical Context for Nephrotic Syndrome, Type 4

Animal Models for Nephrotic Syndrome, Type 4 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Nephrotic Syndrome, Type 4:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8PTPRO, ARHGDIA, WT1
2MP:00053857.7PTPRO, PLCE1, ARHGDIA, WT1

Publications for Nephrotic Syndrome, Type 4

Genetic Variations for Nephrotic Syndrome, Type 4

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Nephrotic Syndrome, Type 4:

63
id Symbol AA change Variation SNP ID
1WT1p.His377TyrVAR_007748
2WT1p.Phe383LeuVAR_007749
3WT1p.Asp396AsnVAR_007751
4WT1p.Arg312GlnVAR_015053
5WT1p.Phe364LeuVAR_043801
6WT1p.Gly379CysVAR_043804
7WT1p.Cys388ArgVAR_043805
8WT1p.His397ProVAR_043810

Expression for genes affiliated with Nephrotic Syndrome, Type 4

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephrotic Syndrome, Type 4

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 4.

Pathways for genes affiliated with Nephrotic Syndrome, Type 4

Sources:
52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database
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Pathways related to Nephrotic Syndrome, Type 4 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PLCE1, ARHGDIA
29.1PLCE1, ARHGDIA
3
Hide members
9.1PLCE1, ARHGDIA
4
Hide members
9.0PTPRO, PLCE1

Compounds for genes affiliated with Nephrotic Syndrome, Type 4

GO Terms for genes affiliated with Nephrotic Syndrome, Type 4

Sources:
16Gene Ontology
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Biological processes related to Nephrotic Syndrome, Type 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:0075079.1PLCE1, WT1
2glomerular visceral epithelial cell differentiationGO:0721129.0PTPRO, WT1
3glomerulus developmentGO:0328358.4PTPRO, PLCE1, WT1

Products for genes affiliated with Nephrotic Syndrome, Type 4

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephrotic Syndrome, Type 4

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet