MCID: FML015
MIFTS: 36

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 35 11 25 13
Congenital Nephrotic Syndrome 11 25
 
Nephrosis, Congenital 39 68
Finnish Congenital Nephrotic Syndrome 68

Classifications:



External Ids:

Disease Ontology11 DOID:2590
ICD1030 N04
SNOMED-CT62 197602005, 48796009
MeSH39 C535761
NCIt45 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 focal segmental glomerulosclerosis and congenital nephrotic syndrome finnish type, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Nephrin interactions. Related mouse phenotypes are cardiovascular system and growth/size/body region.

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 Type 11
Nephrotic Syndrome Type 12 Nephrotic Syndrome Type 13
Nephrotic Syndrome, Kank4-Related

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

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1focal segmental glomerulosclerosis27.3ACTN4, CD2AP, ITGA3, KIRREL3, LAMB2, NPHS1
2congenital nephrotic syndrome finnish type12.3
3pierson syndrome11.8
4nephrotic syndrome, type 111.7
5interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital11.5
6pauci-immune glomerulonephritis10.1NPHS1, NPHS2
7congenital megacalycosis10.1PLCE1, WT1
8renal agenesis, unilateral10.1CD2AP, NPHS2
9nephrotic syndrome10.1
10aphthous stomatitis10.1NPHS1, NPHS2
11cholangitis, primary sclerosing10.0LAMB2, NPHS2
12sick sinus syndrome 310.0CD2AP, NPHS1, NPHS2
13transient pseudohypoaldosteronism10.0NPHS1, PLCE1, WT1
14muscular dystrophy-dystroglycanopathy , type b, 110.0CD2AP, NPHS2
15hemiplegia10.0CD2AP, NPHS1, NPHS2
16hypertrichosis of eyelid10.0NPHS1, NPHS2
17frasier syndrome9.9CD2AP, NPHS1, NPHS2, WT1
18glaucoma 1, open angle, e9.9ACTN4, LAMB2, NPHS1, NPHS2
19biliary cirrhosis, primary, 29.8CD2AP, NPHS1, NPHS2, TRPC6
20congenital torticollis9.7ACTN4, CD2AP, NPHS1, NPHS2, WT1
21cerebral cavernous malformations-29.7ACTN4, CD2AP, NPHS1, NPHS2, WT1
22diprosopia9.7LAMB2, NPHS1, NPHS2, PLCE1, WT1
23lung giant cell carcinoma9.7ACTN4, CD2AP, NPHS1, NPHS2, WT1
24deafness, autosomal recessive 519.6ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, WT1
25hypothyroidism, congenital, nongoitrous, 39.6ACTN4, ITGA3, LAMB2, NPHS1, NPHS2
26malignant hyperthermia susceptibility 19.5ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
27nephrocalcinosis9.5
28acral persistent papular mucinosis9.4ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, TRPC6
29gastric cancer9.3ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, TRPC6
30transient refractive change9.1ACTN4, CD2AP, ITGA3, LAMB2, NPHS1, NPHS2

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to familial nephrotic syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

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UMLS symptoms related to Familial Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0ACTN4, CD2AP, ITGA3, NPHS2, PLCE1, TRPC6
2MP:00053787.8ACTN4, CD2AP, ITGA3, KIRREL3, LAMB2, NPHS2
3MP:00053767.6ACTN4, CD2AP, ITGA3, LAMB2, NPHS1, NPHS2
4MP:00053677.2ACTN4, CD2AP, ITGA3, LAMB2, NPHS1, NPHS2

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 2232
2
Colchicineapproved11564-86-86167, 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
3Dextrans104

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
8Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
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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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

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 with nephrocalcinosis and tubular dysfunction. (4684364)
1973
13
Familial nephrotic syndrome. (4536424)
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.

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
1cell-cell junctionGO:00059119.5ACTN4, CD2AP, NPHS2
2slit diaphragmGO:00360579.2NPHS1, NPHS2, TRPC6

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

idNameGO IDScoreTop Affiliating Genes
1excretionGO:000758810.4NPHS1, NPHS2
2glomerulus developmentGO:003283510.3PLCE1, WT1
3glomerular basement membrane developmentGO:003283610.3NPHS1, WT1
4metanephric glomerular visceral epithelial cell developmentGO:00722499.6LAMB2, NPHS2
5heart developmentGO:00075078.8ITGA3, PLCE1, WT1

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051788.8ACTN4, ITGA3, LAMB2

Sources for Familial Nephrotic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet