MCID: FML015
MIFTS: 36

Familial Nephrotic Syndrome malady

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

Aliases & Classifications for Familial Nephrotic Syndrome

Aliases & Descriptions for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 38 12 25 14
Congenital Nephrotic Syndrome 12 25
Nephrosis, Congenital 42 69
Finnish Congenital Nephrotic Syndrome 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2590
ICD10 33 N04
MeSH 42 C535761
NCIt 47 C35337
SNOMED-CT 64 197602005 48796009
UMLS 69 C3501848

Summaries for Familial Nephrotic Syndrome

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to focal segmental glomerulosclerosis and congenital nephrotic syndrome finnish type, 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. The drugs Complement System Proteins and Colchicine have been mentioned in the context of this disorder. Affiliated tissues include Kidney, and related phenotypes are cardiovascular system and growth/size/body region

Related Diseases for Familial Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 4 Nephrotic Syndrome, Type 6
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 1 Familial Nephrotic Syndrome
Hereditary Nephrotic Syndromes Hereditary Nephrotic Syndromes, Autosomal Dominant
Hereditary Nephrotic Syndromes, Autosomal Recessive Nephrotic Syndrome Type 11
Nephrotic Syndrome Type 12 Nephrotic Syndrome Type 13
Nephrotic Syndrome, Kank4-Related

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 27.3 ACTN4 CD2AP ITGA3 KIRREL3 LAMB2 NPHS1
2 congenital nephrotic syndrome finnish type 12.3
3 pierson syndrome 11.8
4 nephrotic syndrome, type 1 11.7
5 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.5
6 pauci-immune glomerulonephritis 10.1 NPHS1 NPHS2
7 congenital megacalycosis 10.1 PLCE1 WT1
8 renal agenesis, unilateral 10.1 CD2AP NPHS2
9 nephrotic syndrome 10.1
10 aphthous stomatitis 10.1 NPHS1 NPHS2
11 cholangitis, primary sclerosing 10.0 LAMB2 NPHS2
12 sick sinus syndrome 3 10.0 CD2AP NPHS1 NPHS2
13 transient pseudohypoaldosteronism 10.0 NPHS1 PLCE1 WT1
14 muscular dystrophy-dystroglycanopathy , type b, 1 10.0 CD2AP NPHS2
15 hemiplegia 10.0 CD2AP NPHS1 NPHS2
16 hypertrichosis of eyelid 10.0 NPHS1 NPHS2
17 frasier syndrome 9.9 CD2AP NPHS1 NPHS2 WT1
18 glaucoma 1, open angle, e 9.9 ACTN4 LAMB2 NPHS1 NPHS2
19 biliary cirrhosis, primary, 2 9.8 CD2AP NPHS1 NPHS2 TRPC6
20 congenital torticollis 9.7 ACTN4 CD2AP NPHS1 NPHS2 WT1
21 cerebral cavernous malformations-2 9.7 ACTN4 CD2AP NPHS1 NPHS2 WT1
22 diprosopia 9.7 LAMB2 NPHS1 NPHS2 PLCE1 WT1
23 lung giant cell carcinoma 9.7 ACTN4 CD2AP NPHS1 NPHS2 WT1
24 deafness, autosomal recessive 51 9.6 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
25 hypothyroidism, congenital, nongoitrous, 3 9.6 ACTN4 ITGA3 LAMB2 NPHS1 NPHS2
26 malignant hyperthermia susceptibility 1 9.5 ACTN4 CD2AP LAMB2 NPHS1 NPHS2 WT1
27 nephrocalcinosis 9.5
28 acral persistent papular mucinosis 9.4 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 TRPC6
29 gastric cancer 9.3 ACTN4 CD2AP LAMB2 NPHS1 NPHS2 TRPC6
30 transient refractive change 9.1 ACTN4 CD2AP ITGA3 LAMB2 NPHS1 NPHS2

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ACTN4 CD2AP ITGA3 NPHS2 PLCE1 TRPC6
2 growth/size/body region MP:0005378 9.7 WT1 ACTN4 CD2AP ITGA3 KIRREL3 LAMB2
3 homeostasis/metabolism MP:0005376 9.56 ACTN4 CD2AP ITGA3 LAMB2 NPHS1 NPHS2
4 renal/urinary system MP:0005367 9.17 ACTN4 CD2AP ITGA3 LAMB2 NPHS1 NPHS2

Drugs & Therapeutics for Familial Nephrotic Syndrome

Drugs for Familial Nephrotic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement System Proteins Phase 2
2
Colchicine Approved 64-86-8 6167 2833
3 Dextrans

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3
2 Eculizumab in Primary MPGN Active, not recruiting NCT02093533 Phase 2
3 Assessment of the Educational Experiences for Patients Newly Diagnosed With Nephrotic Syndrome Completed NCT02190955
4 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236
5 Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure Recruiting NCT02194582
6 Nephrotic Syndrome Study Network Recruiting NCT01209000
7 Post Approval Study of Liposorber LA-15 System for the Treatment of Focal Segmental Glomerulosclerosis in Children Recruiting NCT02235857
8 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
9 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Not yet recruiting NCT01168570

Search 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:
id 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)
id 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
The familial nephrotic syndrome. II. A clinicopathological study. ( 4206018 )
1973
12
Familial nephrotic syndrome with nephrocalcinosis and tubular dysfunction. ( 4684364 )
1973
13
Familial nephrotic syndrome. ( 4536424 )
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:

id Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.13 ACTN4 CD2AP NPHS2
2 slit diaphragm GO:0036057 8.8 NPHS1 NPHS2 TRPC6

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

id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.43 ITGA3 PLCE1 WT1
2 excretion GO:0007588 9.32 NPHS1 NPHS2
3 glomerular basement membrane development GO:0032836 9.16 NPHS1 WT1
4 glomerulus development GO:0032835 8.96 PLCE1 WT1
5 metanephric glomerular visceral epithelial cell development GO:0072249 8.62 LAMB2 NPHS2

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.8 ACTN4 ITGA3 LAMB2

Sources for Familial Nephrotic Syndrome

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
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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