MCID: FML015
MIFTS: 31

Familial Nephrotic Syndrome malady

Genetic diseases, Nephrological diseases, Rare diseases categories

Aliases & Classifications for Familial Nephrotic Syndrome

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Aliases & Descriptions for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 32 10 12
Congenital Nephrotic Syndrome 10 65
 
Finnish Congenital Nephrotic Syndrome 65
Congenital Nephrotic Syndrome Nos 10


Classifications:



External Ids:

Disease Ontology10 DOID:2590
SNOMED-CT59 48796009, 197602005
NCIt42 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), and among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Cell junction organization. Related mouse phenotypes are renal/urinary system and cardiovascular system.

Related Diseases for Familial Nephrotic Syndrome

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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 Lamb2-Related Infantile-Onset Nephrotic Syndrome

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome10.6
2congenital nephrotic syndrome finnish type10.6
3pierson syndrome10.5
4nephrotic syndrome, type 110.4
5diffuse mesangial sclerosis10.4
6interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.3
7microcephaly10.2
8gonadal dysgenesis10.2
9pfeiffer syndrome type 310.1NPHS1, NPHS2
10focal segmental glomerulosclerosis10.1
11nephrocalcinosis10.1
12glomerulosclerosis10.1
13antiphospholipid syndrome10.1NPHS1, NPHS2
14lipoprotein glomerulopathy10.1
15cataract10.1
16neutropenia10.1
17congenital toxoplasmosis10.1
18buphthalmos10.1
19early myoclonic encephalopathy10.1
20carbuncle10.1
21cerebritis10.1
22agammaglobulinemia10.1
23cystic kidney10.1
24dystonia10.1
25hypothyroidism10.1
26kidney disease10.1
27peritonitis10.1
28toxoplasmosis10.1
29athetosis10.1
30encephalopathy10.1
31hypotonia10.1
32congenital pulmonary airway malformation10.1
33familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.0PLCE1, WT1
34autosomal recessive myogenic arthrogryposis multiplex congenita10.0CD2AP, NPHS1
35nail-patella syndrome9.9CD2AP, NPHS2
36glomus tympanicum tumor9.9CD2AP, NPHS1, NPHS2
37spastic hemiplegia9.9CD2AP, NPHS1, NPHS2
38membranous nephropathy9.9CD2AP, NPHS1, NPHS2
39emphysematous cholecystitis9.9NPHS1, TRPC6
40epidermolysis bullosa dystrophica9.8NPHS1, NPHS2, WT1
41corneal dystrophy, fuchs endothelial, 89.8ACTN4, LAMB2, NPHS1, NPHS2
42denys-drash syndrome9.7CD2AP, NPHS1, NPHS2, WT1
43benign breast adenomyoepithelioma9.7CD2AP, NPHS1, NPHS2, WT1
44diffuse neonatal hemangiomatosis9.6LAMB2, NPHS1, NPHS2, PLCE1, WT1
45glycogen storage disease due to lactate dehydrogenase deficiency9.6ACTN4, NPHS2, PLCE1, TRPC6, WT1
46suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
47congenital nonhemolytic jaundice9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
48wilms tumor susceptibility-59.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
49frasier syndrome9.4ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
50nerve compression syndrome9.3ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PLCE1

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Complement System ProteinsPhase 2171
2
Colchicineapproved10364-86-86167, 2833
Synonyms:
(S)-N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[a]heptalen-7-yl)acetamide
30512-31-3
5843-86-7
64-86-8
7-alpha-H-Colchicine
7.alpha.H-Colchicine
7alphaH-Colchicine
AC1L1LXO
ACon1_000353
AI3-31149
AKOS001582887
BB_NC-0737
BPBio1_000535
BRD-K00259736-001-06-5
BSPBio_000485
BSPBio_002083
Benzo(a)heptalen-9(5H)-one
C 9754
C07592
C22H25NO6
C3915_SIGMA
C9754_SIGMA
CCRIS 691
CHEBI:27882
CHEMBL107
CID6167
CPD-9785
Colchicin
Colchicin [German]
Colchicina
Colchicina [Italian]
Colchicine
Colchicine (JP15/USP)
Colchicine (TN)
Colchicine [JAN]
Colchicine, (+-)-Isomer
Colchicine, (R)-Isomer
Colchicine, Colchicum autumnale
Colchicinum
Colchineos
Colchisol
Colchysat
Colcin
Colcrys
Colsaloid
Colstat
Condylon
D003078
D00570
DB01394
DB08117
DivK1c_000753
EINECS 200-598-5
EU-0100310
Goutnil
HMS1569I07
HMS1920A08
HMS2091G16
HMS502F15
HSDB 3044
IDI1_000753
KBio1_000753
KBio2_001322
KBio2_003890
KBio2_006458
 
KBio3_001303
KBioGR_000856
KBioSS_001322
Kolkicin
LOC
LS-279
Lopac0_000310
MEGxp0_001879
MLS001055448
MLS001055448-02
MLS001304089
MLS002153786
MPC-004
Mitigare
MolPort-001-742-594
N-((7S)-5,6,7,9-tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo(a)heptalen-7-yl)- acetamide
N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo(a)heptalen-7-yl)acetamide
N-(5,6,7,9-Tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[.alpha.]heptalen-7-yl)-acetamide
N-Acetyl trimethylcolchicinic acid methylether
N-[(7S)-1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl]acetamide
N-[(7S)-1,2,3,10-tetramethoxy-9-oxo-6,7-dihydro-5H-benzo[a]heptalen-7-yl]acetamide
N-[(7S)-5,6,7,9-tetrahydro-1,2,3,10-tetramethoxy-9-oxobenzo[a]heptalen-7-yl]acetamide
NCGC00025125-01
NCGC00025125-02
NCGC00025125-03
NCGC00025125-04
NCGC00025125-05
NCGC00025125-06
NCGC00025125-07
NCGC00025125-11
NCGC00169157-01
NCGC00169157-02
NCGC00169157-03
NCI60_041659
NChemBio.2007.10-comp20
NINDS_000753
NSC 757
NSC757
Prestwick0_000363
Prestwick1_000363
Prestwick2_000363
Prestwick3_000363
Prestwick_695
S2284_Selleck
SDCCGMLS-0066633.P001
SID26747941
SID49671357
SMR000058323
SPBio_000289
SPBio_002406
SPECTRUM1500205
Spectrum2_000075
Spectrum3_000362
Spectrum4_000298
Spectrum5_000787
Spectrum_000842
Tocris-1364
UNII-SML2Y3J35T
UPCMLD-DP065
UPCMLD-DP065:001
WLN: L B677 MV&T&J CO1 DO1 EO1 JMV1 NO1
ZINC00621853
binds to tubulin
colchicine
inhibits microtubular assembly
nchembio853-comp2
spindle poison
3Dextrans69

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of the Safety and Efficacy of NC-503 in Secondary (AA) AmyloidosisCompletedNCT00035334Phase 2, Phase 3
2Eculizumab in Primary MPGNActive, not recruitingNCT02093533Phase 2
3Assessment of the Educational Experiences for Patients Newly Diagnosed With Nephrotic SyndromeCompletedNCT02190955
4Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional ThrombocytopeniaCompletedNCT00925236
5Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney FailureRecruitingNCT02194582
6Nephrotic Syndrome Study NetworkRecruitingNCT01209000
7Post Approval Study of Liposorber LA-15 System for the Treatment of Focal Segmental Glomerulosclerosis in ChildrenRecruitingNCT02235857
8Progression of Renal Amyloidosis of FMF and Relation to Serum SAA LevelNot yet recruitingNCT01168570

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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MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.7ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
2MP:00053857.6ACTN4, CD2AP, NPHS2, PLCE1, TRPC6, WT1
3MP:00053767.4ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PLCE1

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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GO Terms for genes affiliated with Familial Nephrotic Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:00360579.6NPHS1, NPHS2, TRPC6
2cell-cell junctionGO:00059119.1ACTN4, CD2AP, NPHS2

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

idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular visceral epithelial cell developmentGO:007224910.1LAMB2, NPHS2
2glomerulus developmentGO:00328359.7PLCE1, WT1
3glomerular basement membrane developmentGO:00328369.5NPHS1, WT1
4excretionGO:00075889.5NPHS1, NPHS2

Sources for Familial Nephrotic Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet