MCID: FML015
MIFTS: 39

Familial Nephrotic Syndrome malady

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Familial Nephrotic Syndrome

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Aliases & Descriptions for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 32 10 12
Finnish Congenital Nephrotic Syndrome 65
 
Congenital Nephrotic Syndrome 10
Nephrosis, Congenital 65

Classifications:



External Ids:

Disease Ontology10 DOID:2590
ICD1027 N04
SNOMED-CT59 197602005, 48796009
NCIt42 C35337
UMLS65 C0268713, C3501848, C0403399

Summaries for Familial Nephrotic Syndrome

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MalaCards based summary: Familial Nephrotic Syndrome, also known as finnish 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, b cells and prostate, and related mouse phenotypes are cardiovascular system and renal/urinary 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 all 31)
idRelated DiseaseScoreTop Affiliating Genes
1congenital nephrotic syndrome finnish type12.2
2pierson syndrome11.7
3pfeiffer syndrome type 310.4NPHS1, NPHS2
4familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.3PLCE1, WT1
5nephrotic syndrome10.2
6autosomal recessive myogenic arthrogryposis multiplex congenita10.2CD2AP, NPHS1
7antiphospholipid syndrome10.2NPHS1, NPHS2
8glomus tympanicum tumor10.1CD2AP, NPHS2
9spastic hemiplegia10.0CD2AP, NPHS1, NPHS2
10crescentic glomerulonephritis10.0NPHS1, SYNPO
11nasopharyngeal carcinoma 210.0CD2AP, NPHS1, NPHS2
12muscular dystrophy-dystroglycanopathy , type a, 110.0CD2AP, NPHS2
13epidermolysis bullosa dystrophica9.9NPHS1, NPHS2, WT1
14nephrotic syndrome, type 49.8CD2AP, NPHS1, WT1
15ossifying fibroma9.8NPHS1, NPHS2, SYNPO
16focal segmental glomerulosclerosis9.7
17glomerulosclerosis9.7
18nephrocalcinosis9.7
19suppurative uveitis9.5SYNPO, WT1
20suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.5CD2AP, NPHS1, NPHS2, WT1
21fetal erythroblastosis9.5NPHS1, SYNPO, TRPC6
22diffuse neonatal hemangiomatosis9.4LAMB2, NPHS1, NPHS2, PLCE1, WT1
23corneal dystrophy, fuchs endothelial, 89.2ACTN4, LAMB2, NPHS1, NPHS2, SYNPO
24congenital nonhemolytic jaundice9.2ACTN4, CD2AP, NPHS1, NPHS2, WT1
25meacham syndrome8.8ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
26hyperbiliverdinemia8.6ACTN4, CD2AP, NPHS1, NPHS2, SYNPO, WT1
27coronary artery vasospasm8.5ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PLCE1
28radial hemimelia8.1ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, TRPC6
29limb ischemia8.1ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, TRPC6
30follicular lymphoma7.6ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, SYNPO
31fecal incontinence6.7ACTN4, 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
1Complement System ProteinsPhase 2190
2
Colchicineapproved10464-86-86167, 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
3Dextrans72

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
4Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney FailureRecruitingNCT02194582
5Nephrotic Syndrome Study NetworkRecruitingNCT01209000
6Post Approval Study of Liposorber LA-15 System for the Treatment of Focal Segmental Glomerulosclerosis in ChildrenRecruitingNCT02235857
7Progression 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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MalaCards organs/tissues related to Familial Nephrotic Syndrome:

33
Kidney, B cells, Prostate, Skeletal muscle, Thyroid, Ovary, Endothelial

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:00053857.6ACTN4, CD2AP, NPHS2, PLCE1, TRPC6, WT1
2MP:00053677.5ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, SYNPO
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
1cell-cell junctionGO:00059119.7CD2AP, NPHS2
2actin cytoskeletonGO:00156299.6ACTN4, SYNPO
3protein complexGO:00432349.0ACTN4, 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:00722499.8LAMB2, NPHS2
2glomerulus developmentGO:00328359.7PLCE1, WT1

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