MCID: FML267
MIFTS: 16

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis malady

Categories: Nephrological diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Aliases & Descriptions for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis:

Name: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 56

Characteristics:

Orphanet epidemiological data:

56

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Orphanet 56 ORPHA93217
ICD10 via Orphanet 34 N04.8

Summaries for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

MalaCards based summary : Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis is related to congenital bilateral megacalycosis and pauci-immune glomerulonephritis. An important gene associated with Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis is NPHS1 (NPHS1, Nephrin), and among its related pathways/superpathways is Primary Focal Segmental Glomerulosclerosis FSGS. Related phenotypes are Increased shRNA abundance (Z-score > 2) and renal/urinary system

Related Diseases for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Graphical network of the top 20 diseases related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis:



Diseases related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis

Symptoms & Phenotypes for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

GenomeRNAi Phenotypes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.5 WT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.5 NUP93
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.5 WT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.5 NUP93
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.5 WT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.5 WT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.5 NUP93 WT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 NUP93
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.5 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.5 NUP93
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 WT1

MGI Mouse Phenotypes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ARHGDIA NPHS1 PTPRO WT1

Drugs & Therapeutics for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Search Clinical Trials , NIH Clinical Center for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis

Genetic Tests for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Anatomical Context for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Publications for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Variations for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Expression for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Search GEO for disease gene expression data for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis.

Pathways for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Pathways related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.79 NPHS1 PLCE1 PTPRO WT1

GO Terms for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

Biological processes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glomerular basement membrane development GO:0032836 9.26 NPHS1 WT1
2 glomerular visceral epithelial cell development GO:0072015 9.16 NPHS1 NUP93
3 glomerular visceral epithelial cell differentiation GO:0072112 8.96 PTPRO WT1
4 glomerulus development GO:0032835 8.8 PLCE1 PTPRO WT1

Sources for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with...

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