MCID: FML015
MIFTS: 22

Familial Nephrotic Syndrome malady

Genetic diseases, Nephrological diseases, Rare diseases categories

Aliases & Classifications for Familial Nephrotic Syndrome

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Familial Nephrotic Syndrome, Aliases & Descriptions:

Name: Familial Nephrotic Syndrome 30 9
Congenital Nephrotic Syndrome 9 60
 
Finnish Congenital Nephrotic Syndrome 60
Congenital Nephrotic Syndrome Nos 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


External Ids:

Disease Ontology9 DOID:2590
SNOMED-CT55 197602005, 48796009
NCIt38 C35337

Summaries for Familial Nephrotic Syndrome

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MalaCards based summary: 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).

Related Diseases for Familial Nephrotic Syndrome

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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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Drug clinical trials:

Search ClinicalTrials for Familial Nephrotic Syndrome

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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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 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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Articles related to Familial Nephrotic Syndrome:

(show all 13)
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. (4536424)
1973
12
Familial nephrotic syndrome with nephrocalcinosis and tubular dysfunction. (4684364)
1973
13
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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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
  • Proteins
  • Kits and Assays

Sources for Familial Nephrotic Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet