MCID: FML268
MIFTS: 17

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes

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 Minimal Changes:

Name: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes 59

Characteristics:

Orphanet epidemiological data:

59
familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA93216
ICD10 via Orphanet 34 N04.0

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

MalaCards based summary : Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes is related to crescentic glomerulonephritis and familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation. An important gene associated with Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes is PTPRO (Protein Tyrosine Phosphatase, Receptor Type O), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. Related phenotype is renal/urinary system.

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

Diseases in the Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes family:

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 crescentic glomerulonephritis 9.9 NPHS2 PTPRO
2 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 9.8 NPHS1 PTPRO
3 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 9.8 NPHS1 PTPRO
4 atrial septal defect 3 9.6 NPHS1 NPHS2
5 kidney hypertrophy 9.6 NPHS1 NPHS2
6 hypoparathyroidism, sensorineural deafness, and renal disease 9.6 NPHS1 NPHS2
7 familial nephrotic syndrome 9.6 NPHS1 NPHS2
8 nephrotic syndrome, type 1 9.6 NPHS1 NPHS2
9 denys-drash syndrome 9.6 NPHS1 NPHS2
10 lipoid nephrosis 9.5 NPHS1 NPHS2
11 diffuse mesangial sclerosis 9.5 NPHS1 NPHS2
12 frasier syndrome 9.5 NPHS1 NPHS2
13 galloway-mowat syndrome 9.5 NPHS1 NPHS2
14 end stage renal failure 9.4 NPHS1 NPHS2
15 urinary system disease 9.4 NPHS1 NPHS2
16 iga glomerulonephritis 9.4 NPHS1 NPHS2
17 membranous nephropathy 9.3 NPHS1 NPHS2
18 glomerulonephritis 9.2 NPHS1 NPHS2
19 chronic kidney failure 9.1 NPHS1 NPHS2
20 focal segmental glomerulosclerosis 1 9.0 NPHS1 NPHS2 PTPRO
21 focal segmental glomerulosclerosis 9.0 NPHS1 NPHS2 PTPRO
22 kidney disease 8.9 NPHS1 NPHS2
23 nephrotic syndrome 8.4 EMP2 NPHS1 NPHS2 PTPRO

Graphical network of the top 20 diseases related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes:



Diseases related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes

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

MGI Mouse Phenotypes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 NPHS1 NPHS2 PTPRO

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

Search Clinical Trials , NIH Clinical Center for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes

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 Minimal Changes.

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

Pathways related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.67 NPHS1 NPHS2 PTPRO
2 10.37 NPHS1 NPHS2

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

Cellular components related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.33 NPHS1 NPHS2 PTPRO
2 apical plasma membrane GO:0016324 9.26 EMP2 PTPRO
3 membrane raft GO:0045121 8.96 EMP2 NPHS2
4 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

Biological processes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.16 NPHS1 PTPRO
2 excretion GO:0007588 8.96 NPHS1 NPHS2
3 regulation of glomerular filtration GO:0003093 8.62 EMP2 PTPRO

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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