MCID: FML267
MIFTS: 15

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis

Categories: Nephrological diseases, Rare diseases, Genetic 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 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 pfeiffer syndrome type 2 and congenital megacalycosis. 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 renal/urinary system

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

Diseases in the Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis family:

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis

Diseases related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 pfeiffer syndrome type 2 10.1 PLCE1 WT1
2 congenital megacalycosis 9.8 NPHS1 PTPRO
3 renal hypoplasia 9.7 NPHS1 PTPRO
4 benign secondary hypertension 9.7 PTPRO WT1
5 congenital pulmonary alveolar proteinosis 9.6 NPHS1 WT1
6 exocrine pancreatic insufficiency 9.6 NPHS1 WT1
7 nephrotic syndrome, type 4 9.5 NPHS1 WT1
8 female stress incontinence 9.3 NPHS1 PLCE1 WT1
9 hyperbiliverdinemia 9.2 NPHS1 PTPRO WT1
10 meacham syndrome 9.2 NPHS1 PLCE1 WT1
11 gas gangrene 8.9 NPHS1 PLCE1 PTPRO WT1
12 digestive system melanoma 8.8 ARHGDIA NPHS1 PLCE1 WT1
13 hyperferritinemia-cataract syndrome 8.3 NPHS1 NUP93 PLCE1 PTPRO WT1
14 renal dysplasia 7.8 ARHGDIA NPHS1 NUP93 PLCE1 PTPRO WT1
15 transient refractive change 7.7 ARHGDIA NPHS1 NUP93 PLCE1 PTPRO WT1

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 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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