MCID: NPH047
MIFTS: 25

Nephrotic Syndrome, Type 4

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Nephrotic Syndrome, Type 4

MalaCards integrated aliases for Nephrotic Syndrome, Type 4:

Name: Nephrotic Syndrome, Type 4 53 13 69
Nphs4 53 71
Isolated Diffuse Mesangial Sclerosis 71
Nephrotic Syndrome 4 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
progressive disorder


HPO:

31
nephrotic syndrome, type 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course progressive childhood onset


Classifications:



Summaries for Nephrotic Syndrome, Type 4

UniProtKB/Swiss-Prot : 71 Nephrotic syndrome 4: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen.

MalaCards based summary : Nephrotic Syndrome, Type 4, also known as nphs4, is related to diffuse mesangial sclerosis and hereditary wilms' tumor, and has symptoms including renal insufficiency, nephrotic syndrome and nephroblastoma. An important gene associated with Nephrotic Syndrome, Type 4 is WT1 (Wilms Tumor 1). Affiliated tissues include kidney.

OMIM : 53 Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome (review by Schumacher et al., 1998). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (256370)

Related Diseases for Nephrotic Syndrome, Type 4

Graphical network of the top 20 diseases related to Nephrotic Syndrome, Type 4:



Diseases related to Nephrotic Syndrome, Type 4

Symptoms & Phenotypes for Nephrotic Syndrome, Type 4

Symptoms via clinical synopsis from OMIM:

53
GenitourinaryKidneys:
nephrotic syndrome
renal failure
diffuse mesangial sclerosis
focal segmental glomerulosclerosis (less common)


Clinical features from OMIM:

256370

Human phenotypes related to Nephrotic Syndrome, Type 4:

31
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 31 HP:0000083
2 nephrotic syndrome 31 HP:0000100
3 nephroblastoma 31 HP:0002667
4 focal segmental glomerulosclerosis 31 occasional (7.5%) HP:0000097
5 diffuse mesangial sclerosis 31 HP:0001967

Drugs & Therapeutics for Nephrotic Syndrome, Type 4

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 4

Genetic Tests for Nephrotic Syndrome, Type 4

Anatomical Context for Nephrotic Syndrome, Type 4

MalaCards organs/tissues related to Nephrotic Syndrome, Type 4:

38
Kidney

Publications for Nephrotic Syndrome, Type 4

Articles related to Nephrotic Syndrome, Type 4:

# Title Authors Year
1
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). ( 18065803 )
2008
2
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations. ( 16479084 )
2006
3
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. ( 11241056 )
2001
4
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. ( 9916932 )
1999
5
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. ( 9529364 )
1998
6
Isolated diffuse mesangial sclerosis in three siblings. ( 9546709 )
1998

Variations for Nephrotic Syndrome, Type 4

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 4:

71
# Symbol AA change Variation ID SNP ID
1 WT1 p.His377Tyr VAR_007748
2 WT1 p.Phe383Leu VAR_007749
3 WT1 p.Arg394Trp VAR_007750
4 WT1 p.Asp396Asn VAR_007751
5 WT1 p.Arg312Gln VAR_015053
6 WT1 p.Arg394Gln VAR_015061
7 WT1 p.Phe364Leu VAR_043801
8 WT1 p.Gly379Cys VAR_043804
9 WT1 p.Cys388Arg VAR_043805
10 WT1 p.His397Pro VAR_043810

ClinVar genetic disease variations for Nephrotic Syndrome, Type 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
2 WT1 NM_024426.4(WT1): c.1390G> A (p.Asp464Asn) single nucleotide variant Pathogenic rs28941778 GRCh37 Chromosome 11, 32413560: 32413560
3 WT1 NM_024426.4(WT1): c.1333C> T (p.His445Tyr) single nucleotide variant Pathogenic rs28942089 GRCh37 Chromosome 11, 32414218: 32414218
4 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh38 Chromosome 11, 32391968: 32391968
5 WT1 NM_024426.4(WT1): c.1351T> C (p.Phe451Leu) single nucleotide variant Pathogenic rs28941777 GRCh37 Chromosome 11, 32413599: 32413599

Expression for Nephrotic Syndrome, Type 4

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

Pathways for Nephrotic Syndrome, Type 4

GO Terms for Nephrotic Syndrome, Type 4

Sources for Nephrotic Syndrome, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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