MCID: NPH047
MIFTS: 12

Nephrotic Syndrome, Type 4 malady

Genetic diseases, Nephrological diseases, Rare diseases, Immune diseases categories

Summaries for Nephrotic Syndrome, Type 4

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Sources:
48OMIM, 34MalaCards
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MalaCards: Nephrotic Syndrome, Type 4 An important gene associated with Nephrotic Syndrome, Type 4 is WT1 (Wilms tumor 1).

Description from OMIM:48 256370

Aliases & Classifications for Nephrotic Syndrome, Type 4

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48OMIM
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Classifications:



Aliases & Descriptions:

nephrotic syndrome, type 4 48


Related Diseases for Nephrotic Syndrome, Type 4

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Symptoms for Nephrotic Syndrome, Type 4

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

256370

Clinical features from OMIM:

256370

Drugs & Therapeutics for Nephrotic Syndrome, Type 4

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Nephrotic Syndrome, Type 4

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Animal Models for Nephrotic Syndrome, Type 4 or affiliated genes

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Publications for Nephrotic Syndrome, Type 4

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Variations for Nephrotic Syndrome, Type 4

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 4:

65
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Nephrotic Syndrome, Type 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1WT1NM_000378.4(WT1): c.1333C> T (p.Arg445Trp)single nucleotide variantPathogenicrs121907900GRCh37Chr 11, 32413566: 32413566
2WT1NM_000378.4(WT1): c.1339G> A (p.Asp447Asn)single nucleotide variantPathogenicrs28941778GRCh37Chr 11, 32413560: 32413560
3WT1NM_000378.4(WT1): c.1282C> T (p.His428Tyr)single nucleotide variantPathogenicrs28942089GRCh37Chr 11, 32414218: 32414218
4WT1NM_001198551.1(WT1): c.787+13C> Tsingle nucleotide variantPathogenicGRCh38Chr 11, 32391968: 32391968
5WT1NM_000378.4(WT1): c.1300T> C (p.Phe434Leu)single nucleotide variantPathogenicrs28941777GRCh37Chr 11, 32413599: 32413599

Expression for genes affiliated with Nephrotic Syndrome, Type 4

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephrotic Syndrome, Type 4

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Pathways for genes affiliated with Nephrotic Syndrome, Type 4

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Compounds for genes affiliated with Nephrotic Syndrome, Type 4

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GO Terms for genes affiliated with Nephrotic Syndrome, Type 4

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Products for genes affiliated with Nephrotic Syndrome, Type 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephrotic Syndrome, Type 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet