MCID: FML269
MIFTS: 27

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis

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 Focal Segmental Hyalinosis:

Name: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 59 29
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Glomerulosclerosis 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA93213
ICD10 via Orphanet 34 N04.1

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

MalaCards based summary : Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis, also known as familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis, is related to sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis and sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis. An important gene associated with Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are Hexose transport and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney and prostate, and related phenotypes are Increased gamma-H2AX phosphorylation and Nucleoplasmic pre-40S maturation defects

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

Diseases in the Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis family:

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.2 PLCE1 WT1
2 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.2 CD2AP NPHS2
3 hypoparathyroidism, sensorineural deafness, and renal disease 10.1 ACTN4 NPHS1 NPHS2
4 atrial septal defect 3 10.1 CD2AP NPHS1 NPHS2
5 lipoid nephrosis 10.1 CD2AP NPHS1 NPHS2
6 kidney hypertrophy 10.1 NPHS1 NPHS2
7 focal segmental glomerulosclerosis 1 10.1 ACTN4 ARHGAP24 NPHS1
8 nail-patella syndrome 10.1 CD2AP NPHS2 PAX2
9 membranous nephropathy 10.0 CD2AP NPHS1 NPHS2
10 end stage renal failure 10.0 NPHS1 NPHS2 PLCE1 WT1
11 urinary system disease 10.0 NPHS1 NPHS2 WT1
12 crescentic glomerulonephritis 10.0 NPHS2 PTPRO WT1
13 acute proliferative glomerulonephritis 10.0 COL4A3 NPHS1
14 kidney benign neoplasm 10.0 PAX2 WT1
15 glomerulonephritis 9.9 COL4A3 NPHS1 NPHS2
16 nephrotic syndrome, type 1 9.9 ACTN4 CD2AP NPHS1 NPHS2 WT1
17 diffuse mesangial sclerosis 9.9 NPHS1 NPHS2 PAX2 PLCE1 WT1
18 denys-drash syndrome 9.9 CD2AP NPHS1 NPHS2 PAX2 WT1
19 chronic kidney failure 9.9 ACTN4 NPHS1 NPHS2 PAX2 WT1
20 frasier syndrome 9.9 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
21 nephrotic syndrome, type 6 9.8 NPHS1 NPHS2 NUP93 PLCE1 PTPRO WT1
22 wilms tumor 1 9.8 NPHS1 NPHS2 PAX2 PTPRO WT1
23 galloway-mowat syndrome 9.8 ACTN4 NPHS1 NPHS2 NUP107
24 familial nephrotic syndrome 9.6 ACTN4 CD2AP CRB2 NPHS1 NPHS2 PLCE1
25 kidney disease 9.3 ACTN4 CD2AP COL4A3 CRB2 NPHS1 NPHS2
26 nephrotic syndrome 9.1 ACTN4 CD2AP COQ8B NPHS1 NPHS2 NUP107
27 focal segmental glomerulosclerosis 8.3 ACTN4 ANLN ARHGAP24 CD2AP COL4A3 CRB2

Graphical network of the top 20 diseases related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis:



Diseases related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis

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

GenomeRNAi Phenotypes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.56 ANLN COL4A3 MYO1E NPHS1 NUP107 NUP205
2 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.8 NUP107 NUP205 NUP93

MGI Mouse Phenotypes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 ACTN4 CD2AP COL4A3 CRB2 INF2 MYO1E
2 renal/urinary system MP:0005367 9.28 ACTN4 CD2AP COL4A3 MYO1E NPHS1 NPHS2

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

Search Clinical Trials , NIH Clinical Center for Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis

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

Genetic tests related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis:

# Genetic test Affiliating Genes
1 Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis 29

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

MalaCards organs/tissues related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis:

41
Kidney, Prostate

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 Focal Segmental Hyalinosis.

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

Pathways related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.43 NUP107 NUP205 NUP93
2 11.27 ACTN4 CD2AP COL4A3 INF2 MYO1E NPHS1
3 10.67 ACTN4 CD2AP NPHS1
4 10.67 CD2AP NPHS1 NPHS2 TRPC6

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

Cellular components related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.77 ACTN4 CD2AP CRB2 NPHS2 PAX2
2 actin cytoskeleton GO:0015629 9.56 ACTN4 ANLN CD2AP MYO1E
3 nuclear pore GO:0005643 9.5 NUP107 NUP205 NUP93
4 cell-cell junction GO:0005911 9.46 ACTN4 CD2AP MYO1E NPHS2
5 nuclear periphery GO:0034399 9.13 NUP107 NUP205 NUP93
6 slit diaphragm GO:0036057 8.8 NPHS1 NPHS2 TRPC6

Biological processes related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 mRNA transport GO:0051028 9.69 NUP107 NUP205 NUP93
2 mRNA export from nucleus GO:0006406 9.67 NUP107 NUP205 NUP93
3 nucleocytoplasmic transport GO:0006913 9.5 NUP107 NUP205 NUP93
4 mesenchymal to epithelial transition GO:0060231 9.48 PAX2 WT1
5 metanephric mesenchyme development GO:0072075 9.46 PAX2 WT1
6 glomerular visceral epithelial cell differentiation GO:0072112 9.43 PTPRO WT1
7 nuclear pore complex assembly GO:0051292 9.43 NUP107 NUP205 NUP93
8 glomerular visceral epithelial cell migration GO:0090521 9.4 ANLN NUP93
9 metanephric epithelium development GO:0072207 9.37 PAX2 WT1
10 glomerulus development GO:0032835 9.33 PLCE1 PTPRO WT1
11 glomerular visceral epithelial cell development GO:0072015 9.13 MYO1E NPHS1 NUP93
12 glomerular basement membrane development GO:0032836 8.92 COL4A3 MYO1E NPHS1 WT1

Molecular functions related to Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 ACTN4 ANLN INF2 MYO1E TRPC6
2 structural constituent of nuclear pore GO:0017056 8.8 NUP107 NUP205 NUP93

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

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