MCID: FML267
MIFTS: 17

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis

Categories: Genetic diseases, Nephrological diseases, Rare diseases

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

MalaCards integrated aliases for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis:

Name: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis 55

Characteristics:

Orphanet epidemiological data:

55

Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

Orphanet 55 ORPHA93217
ICD10 via Orphanet 33 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 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis and familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation. An important gene associated with Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis is PTPRO (Protein Tyrosine Phosphatase, Receptor Type O), and among its related pathways/superpathways is Primary Focal Segmental Glomerulosclerosis FSGS. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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:

25 (show all 14)
# 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 WT1 NUP93
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:

43
# 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:

# 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:

# 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...

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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