MCID: FML015
MIFTS: 25

Familial Nephrotic Syndrome malady

Genetic diseases, Nephrological diseases, Rare diseases, Immune diseases categories
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Summaries for Familial Nephrotic Syndrome

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33MalaCards
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MalaCards: Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome and congenital nephrotic syndrome finnish type. An important gene associated with Familial Nephrotic Syndrome is PLCE1 (phospholipase C, epsilon 1).

Aliases & Classifications for Familial Nephrotic Syndrome

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8Disease Ontology, 62UMLS, 40NCIt, 58SNOMED-CT
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Classifications:



Aliases & Descriptions:

familial nephrotic syndrome 8
congenital nephrotic syndrome 8 62
congenital nephrotic syndrome nos 8


External Ids:

Disease Ontology8 DOID:2590
SNOMED-CT58 197602005, 48796009
NCIt40 C35337

Related Diseases for Familial Nephrotic Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to familial nephrotic syndrome

Symptoms for Familial Nephrotic Syndrome

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Drugs & Therapeutics for Familial Nephrotic Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Familial Nephrotic Syndrome

Genetic Tests for Familial Nephrotic Syndrome

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Anatomical Context for Familial Nephrotic Syndrome

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31LifeMap Discovery™
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LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyPodocyte LayerPodocytes Potential therapeutic candidate, affected by disease

Animal Models for Familial Nephrotic Syndrome or affiliated genes

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Publications for Familial Nephrotic Syndrome

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52PubMed
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Articles related to Familial Nephrotic Syndrome:

(show all 12)
idTitleAuthorsYear
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. II. A clinicopathological study. (4206018)
1973
11
Familial nephrotic syndrome with nephrocalcinosis and tubular dysfunction. (4684364)
1973
12
The familial nephrotic syndrome. I. A European survey. (4783718)
1973

Variations for Familial Nephrotic Syndrome

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Expression for genes affiliated with Familial Nephrotic Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Nephrotic Syndrome

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

Pathways for genes affiliated with Familial Nephrotic Syndrome

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Compounds for genes affiliated with Familial Nephrotic Syndrome

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GO Terms for genes affiliated with Familial Nephrotic Syndrome

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Products for genes affiliated with Familial Nephrotic Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Nephrotic Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet