MCID: FML015
MIFTS: 34

Familial Nephrotic Syndrome

Categories: Nephrological diseases, Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Familial Nephrotic Syndrome

MalaCards integrated aliases for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 37 12 24 14
Congenital Nephrotic Syndrome 12 72 24
Nephrosis, Congenital 41 69
Finnish Congenital Nephrotic Syndrome 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2590
ICD10 32 N04
MeSH 41 C535761
NCIt 46 C35337
SNOMED-CT 64 197602005 48796009

Summaries for Familial Nephrotic Syndrome

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome, type 1 and nephrotic syndrome, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, and related phenotypes are cardiovascular system and renal/urinary system

Wikipedia : 72 Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and... more...

Related Diseases for Familial Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome 14 Nephrotic Syndrome 15
Nephrotic Syndrome 16 Familial Nephrotic Syndrome

Diseases related to Familial Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 31.7 ACTN4 CD2AP NPHS1 NPHS2 WT1
2 nephrotic syndrome 28.4 ACTN4 CD2AP ITGA3 NPHS1 NPHS2 PLCE1
3 focal segmental glomerulosclerosis 1 27.3 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 TRPC6
4 focal segmental glomerulosclerosis 27.2 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 TRPC6
5 congenital nephrotic syndrome finnish type 12.4
6 pierson syndrome 11.9
7 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.6
8 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.2 NPHS1 NPHS2
9 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.2 PLCE1 WT1
10 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.2 CD2AP NPHS2
11 kidney hypertrophy 10.1 NPHS1 NPHS2
12 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.0 NPHS1 PLCE1 WT1
13 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 ACTN4 NPHS1 NPHS2
14 atrial septal defect 3 10.0 CD2AP NPHS1 NPHS2
15 galloway-mowat syndrome 10.0 ACTN4 NPHS1 NPHS2
16 nail-patella syndrome 10.0 CD2AP NPHS2
17 lipoid nephrosis 10.0 CD2AP NPHS1 NPHS2
18 membranous nephropathy 9.9 CD2AP NPHS1 NPHS2
19 iga glomerulonephritis 9.8 CD2AP NPHS1 NPHS2
20 crescentic glomerulonephritis 9.8 NPHS2 WT1
21 diffuse mesangial sclerosis 9.8 NPHS1 NPHS2 PLCE1 WT1
22 end stage renal failure 9.7 NPHS1 NPHS2 PLCE1 WT1
23 denys-drash syndrome 9.7 CD2AP NPHS1 NPHS2 WT1
24 nephrocalcinosis 9.6
25 kidney disease 9.4 ACTN4 CD2AP NPHS1 NPHS2 WT1
26 frasier syndrome 9.2 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to Familial Nephrotic Syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

UMLS symptoms related to Familial Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ACTN4 CD2AP ITGA3 NPHS2 PLCE1 TRPC6
2 renal/urinary system MP:0005367 9.1 ACTN4 CD2AP ITGA3 NPHS1 NPHS2 WT1

Drugs & Therapeutics for Familial Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Nephrotic Syndrome

Cochrane evidence based reviews: nephrosis, congenital

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Potential therapeutic candidate, affected by disease

Publications for Familial Nephrotic Syndrome

Articles related to Familial Nephrotic Syndrome:

(show all 13)
# Title Authors Year
1
Familial nephrotic syndrome: PLCE1 enters the fray. ( 17449496 )
2007
2
Unexpected role of TRPC6 channel in familial nephrotic syndrome: does it have clinical implications? ( 16396961 )
2006
3
Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene. ( 16354237 )
2005
4
Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13. ( 10720940 )
2000
5
Adult familial nephrotic syndrome--Balkan variant of congenital nephrotic syndrome. ( 9415939 )
1997
6
Familial nephrotic syndrome and HLA-DR5. ( 1868484 )
1991
7
Familial nephrotic syndrome and focal segmental glomerulosclerosis. ( 7193718 )
1981
8
Familial nephrotic syndrome with focal glomerular sclerosis. ( 7001902 )
1980
9
Familial nephrotic syndrome. ( 4129268 )
1974
10
The familial nephrotic syndrome. I. A European survey. ( 4783718 )
1973
11
Familial nephrotic syndrome with nephrocalcinosis and tubular dysfunction. ( 4684364 )
1973
12
Familial nephrotic syndrome. ( 4536424 )
1973
13
The familial nephrotic syndrome. II. A clinicopathological study. ( 4206018 )
1973

Variations for Familial Nephrotic Syndrome

Expression for Familial Nephrotic Syndrome

Search GEO for disease gene expression data for Familial Nephrotic Syndrome.

Pathways for Familial Nephrotic Syndrome

GO Terms for Familial Nephrotic Syndrome

Cellular components related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.76 CD2AP ITGA3 KIRREL2 KIRREL3 NPHS1 NPHS2
2 cell-cell junction GO:0005911 9.26 ACTN4 CD2AP KIRREL2 NPHS2
3 slit diaphragm GO:0036057 8.92 KIRREL2 NPHS1 NPHS2 TRPC6

Biological processes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.33 ITGA3 PLCE1 WT1
2 excretion GO:0007588 9.26 NPHS1 NPHS2
3 glomerulus development GO:0032835 8.96 PLCE1 WT1
4 glomerular basement membrane development GO:0032836 8.62 NPHS1 WT1

Molecular functions related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 ACTN4 CD2AP ITGA3 KIRREL2 KIRREL3 NPHS1

Sources for Familial Nephrotic Syndrome

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
Content
Loading form....