MCID: FML015
MIFTS: 33

Familial Nephrotic Syndrome malady

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

Aliases & Classifications for Familial Nephrotic Syndrome

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Aliases & Descriptions for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 33 11 24 13
Congenital Nephrotic Syndrome 11 24
 
Nephrosis, Congenital 37 66
Finnish Congenital Nephrotic Syndrome 66

Classifications:



External Ids:

Disease Ontology11 DOID:2590
ICD1028 N04
SNOMED-CT60 197602005, 48796009
MeSH37 C535761
NCIt43 C35337
UMLS66 C3501848

Summaries for Familial Nephrotic Syndrome

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MalaCards based summary: Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to congenital nephrotic syndrome finnish type and pierson syndrome. An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways are Nephrin interactions and Cell junction organization. Affiliated tissues include kidney, and related mouse phenotypes are homeostasis/metabolism 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 Nephrotic Syndrome 11
Nephrotic Syndrome 13 Nephrotic Syndrome 12

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1congenital nephrotic syndrome finnish type12.2
2pierson syndrome11.7
3nephrotic syndrome, type 111.6
4pfeiffer syndrome type 210.4NPHS1, NPHS2
5familial idiopathic steroid-resistant nephrotic syndrome with minimal changes10.3PLCE1, WT1
6familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.3CD2AP, NPHS2
7nephrotic syndrome10.2
8stomatitis10.1NPHS1, NPHS2
9acute myeloid leukemia with cebpa somatic mutations10.1CD2AP, NPHS1
10pfeiffer syndrome type 310.0NPHS1, PLCE1, WT1
11uveitis10.0NPHS2, SYNPO
12unna-thost palmoplantar keratoderma9.9LAMB2, PLCE1, WT1
13nasopharyngeal carcinoma 29.9CD2AP, NPHS1, NPHS2
14hypopigmentation of eyelid9.9NPHS1, NPHS2, SYNPO
15mononeuritis9.8NPHS1, NPHS2, SYNPO
16exocrine pancreatic insufficiency9.8NPHS1, NPHS2, WT1
17muscular dystrophy-dystroglycanopathy , type a, 19.8CD2AP, NPHS2
18granuloma annulare9.7NPHS1, NPHS2, SYNPO
19focal segmental glomerulosclerosis9.7
20glomerulosclerosis9.7
21nephrocalcinosis9.7
22spastic monoplegia9.6ACTN4, NPHS1, NPHS2, SYNPO
23nephrotic syndrome, type 49.5CD2AP, NPHS1, NPHS2, WT1
24discitis9.4NPHS1, SYNPO, TRPC6
25coronary thrombosis9.3LAMB2, NPHS1, NPHS2, PLCE1, WT1
26corneal dystrophy, fuchs endothelial, 89.2ACTN4, LAMB2, NPHS1, NPHS2, SYNPO
27meacham syndrome8.8ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
28suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria8.8CD2AP, NPHS1, NPHS2, TRPC6, WT1
29hyperbiliverdinemia8.6ACTN4, CD2AP, NPHS1, NPHS2, SYNPO, WT1
30ulnar hemimelia8.1ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, TRPC6
31gas gangrene7.5ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, SYNPO
32chronic venous insufficiency7.2ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PLCE1
33female stress incontinence6.6ACTN4, CD2AP, KIRREL3, LAMB2, NPHS1, NPHS2

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
1
Colchicine10664-86-86167, 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 (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
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
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

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
6Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
7Nephrotic Syndrome Study NetworkRecruitingNCT01209000
8Post Approval Study of Liposorber LA-15 System for the Treatment of Focal Segmental Glomerulosclerosis in ChildrenRecruitingNCT02235857
9Progression of Renal Amyloidosis of FMF and Relation to Serum SAA LevelNot yet recruitingNCT01168570

Search NIH Clinical Center for Familial Nephrotic Syndrome


Cochrane evidence based reviews: nephrosis, congenital

Genetic Tests for Familial Nephrotic Syndrome

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Anatomical Context for Familial Nephrotic Syndrome

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MalaCards organs/tissues related to Familial Nephrotic Syndrome:

34
Kidney

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.7ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PLCE1
2MP:00053857.5ACTN4, CD2AP, NPHS2, PLCE1, TRPC6, WT1
3MP:00053677.2ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, SYNPO

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. I. A European survey. (4783718)
1973
11
The familial nephrotic syndrome. II. A clinicopathological study. (4206018)
1973
12
Familial nephrotic syndrome. (4536424)
1973
13
Familial nephrotic syndrome with nephrocalcinosis and tubular dysfunction. (4684364)
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
1stress fiberGO:00017259.8ACTN4, SYNPO
2slit diaphragmGO:00360579.5NPHS1, NPHS2, TRPC6
3cell-cell junctionGO:00059119.3ACTN4, CD2AP, NPHS2
4actin cytoskeletonGO:00156299.2ACTN4, CD2AP, SYNPO

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

idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular visceral epithelial cell developmentGO:007224910.2LAMB2, NPHS2
2glomerulus developmentGO:00328359.8PLCE1, WT1
3excretionGO:00075889.7NPHS1, NPHS2
4glomerular basement membrane developmentGO:00328369.6NPHS1, WT1

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037798.7ACTN4, SYNPO, TRPC6

Sources for Familial Nephrotic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet