MCID: NPH047
MIFTS: 13

Nephrotic Syndrome, Type 4 malady

Genetic diseases, Nephrological diseases, Rare diseases categories

Aliases & Classifications for Nephrotic Syndrome, Type 4

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Nephrotic Syndrome, Type 4, Aliases & Descriptions:

Name: Nephrotic Syndrome, Type 4 45 10


Classifications:

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


External Ids:

OMIM45 256370

Summaries for Nephrotic Syndrome, Type 4

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OMIM:45 Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant... (256370) more...

MalaCards based summary: Nephrotic Syndrome, Type 4 and has symptoms including focal segmental glomerulosclerosis, autosomal recessive inheritance and renal insufficiency. An important gene associated with Nephrotic Syndrome, Type 4 is WT1 (Wilms tumor 1).

Related Diseases for Nephrotic Syndrome, Type 4

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Symptoms for Nephrotic Syndrome, Type 4

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Symptoms by clinical synopsis from OMIM:

256370

Clinical features from OMIM:

256370

HPO human phenotypes related to Nephrotic Syndrome, Type 4:

(show all 8)
id Description Frequency HPO Source Accession
1 focal segmental glomerulosclerosis rare (5%) HP:0000097
2 autosomal recessive inheritance HP:0000007
3 renal insufficiency HP:0000083
4 nephrotic syndrome HP:0000100
5 diffuse mesangial sclerosis HP:0001967
6 nephroblastoma (wilms tumor) HP:0002667
7 progressive disorder HP:0003676
8 childhood onset HP:0011463

Drugs & Therapeutics for Nephrotic Syndrome, Type 4

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Drug clinical trials:

Search ClinicalTrials for Nephrotic Syndrome, Type 4

Search NIH Clinical Center 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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UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 4:

62
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:

6
id Gene Variation 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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Search GEO for disease gene expression data for Nephrotic Syndrome, Type 4.

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
  • Proteins
  • Kits and Assays

Sources for Nephrotic Syndrome, Type 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet