MCID: FML015
MIFTS: 27

Familial Nephrotic Syndrome malady

Nephrological, Genetic categories

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 nephrosis and focal segmental glomerulosclerosis. An important gene associated with Familial Nephrotic Syndrome is LAMB2 (laminin, beta 2 (laminin S)), and among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Cell-cell junction organization.

Aliases & Classifications for Familial Nephrotic Syndrome

Sources:
8Disease Ontology, 61UMLS, 40NCIt, 57SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

familial nephrotic syndrome 8
congenital nephrotic syndrome 8 61
congenital nephrotic syndrome nos 8


External Ids:

Disease Ontology8 DOID:2590
SNOMED-CT57 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

Clinical Features for Familial Nephrotic Syndrome

Drugs & Therapeutics for Familial Nephrotic Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Nephrotic Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Familial Nephrotic Syndrome

Search CenterWatch for Familial Nephrotic Syndrome

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

Sources:
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

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Nephrotic Syndrome

Sources:
51PubMed
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Articles related to Familial Nephrotic Syndrome:

(show all 30)
idTitleAuthorsYear
1
Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China. (23778422)
2013
2
Familial LCAT deficiency in a child with nephrotic syndrome. (23391322)
2013
3
NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. (23013956)
2012
4
Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group]. (19099831)
2008
5
Familial nephrotic syndrome: PLCE1 enters the fray. (17449496)
2007
6
A familial childhood-onset relapsing nephrotic syndrome. (17290294)
2007
7
Unexpected role of TRPC6 channel in familial nephrotic syndrome: does it have clinical implications? (16396961)
2006
8
Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report]. (16898497)
2006
9
Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene. (16354237)
2005
10
A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome. (15504144)
2004
11
Familial Mediterranean fever, inflammation and nephrotic syndrome: fibrillary glomerulopathy and the M680I missense mutation. (12908875)
2003
12
Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive]. (11908478)
2002
13
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. (11805166)
2002
14
Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. (11158229)
2001
15
Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13. (10720940)
2000
16
Adult familial nephrotic syndrome--Balkan variant of congenital nephrotic syndrome. (9415939)
1997
17
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. (8606597)
1996
18
Evaluation of the hypercoagulable state by measuring protein C and antithrombin III levels in nephrotic syndrome and in familial Mediterranean fever-related amyloidosis. (1509525)
1992
19
Familial nephrotic syndrome and HLA-DR5. (1868484)
1991
20
A case of nephrotic syndrome due to alpha-mercaptopropionyl glycine in a patient with familial cystinuria. (2250412)
1990
21
The relationship of hypercholesterolemia to atherosclerosis with particular emphasis on familial hypercholesterolemia, diabetes mellitus, obstructive jaundice, myxedema, and the nephrotic syndrome. (3275991)
1988
22
Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. (7180443)
1982
23
Familial nephrotic syndrome and focal segmental glomerulosclerosis. (7193718)
1981
24
Familial nephrotic syndrome with focal glomerular sclerosis. (7001902)
1980
25
Antithrombin functional activity after a fatty meal in normal subjects, familial hyperlipidemia, and nephrotic syndrome. (578151)
1977
26
Familial nephrotic syndrome. (4129268)
1974
27
The familial nephrotic syndrome. II. A clinicopathological study. (4206018)
1973
28
Familial nephrotic syndrome. (4536424)
1973
29
Familial nephrotic syndrome with nephrocalcinosis and tubular dysfunction. (4684364)
1973
30
The familial nephrotic syndrome. I. A European survey. (4783718)
1973

Genetic Variations for Familial Nephrotic Syndrome

Expression for genes affiliated with Familial Nephrotic Syndrome

Sources:
1BioGPS, 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

Sources:
38NCBI BioSystems Database, 54Reactome
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Pathways related to Familial Nephrotic Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KIRREL, NPHS1
2
Hide members
8.1NPHS1, MAGI2, KIRREL, KIRREL2
38.1KIRREL2, KIRREL, MAGI2, NPHS1

Compounds for genes affiliated with Familial Nephrotic Syndrome

GO Terms for genes affiliated with Familial Nephrotic Syndrome

Sources:
16Gene Ontology
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Cellular components related to Familial Nephrotic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:0452029.4LAMB2, MAGI2
2slit diaphragmGO:0360578.5KIRREL2, MAGI2, NPHS1
3plasma membraneGO:0058867.2NPHS1, MAGI2, PLCE1, KIRREL, KIRREL2

Biological processes related to Familial Nephrotic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glomerular visceral epithelial cell developmentGO:0720159.5MAGI2, NPHS1
2positive regulation of actin filament polymerizationGO:0308389.5KIRREL, NPHS1
3excretionGO:0075889.4NPHS1, KIRREL
4negative regulation of protein phosphorylationGO:0019339.2KIRREL2, KIRREL
5cell-cell adhesionGO:0163379.1KIRREL2, KIRREL
6cell adhesionGO:0071558.5LAMB2, KIRREL2, NPHS1

Molecular functions related to Familial Nephrotic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:0170229.5KIRREL, NPHS1

Products for genes affiliated with Familial Nephrotic Syndrome

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Sources for Familial Nephrotic Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet