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 34 11 25 13
Congenital Nephrotic Syndrome 11 25
 
Nephrosis, Congenital 38 67
Finnish Congenital Nephrotic Syndrome 67

Classifications:



External Ids:

Disease Ontology11 DOID:2590
ICD1029 N04
SNOMED-CT61 197602005, 48796009
MeSH38 C535761
NCIt44 C35337
UMLS67 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 NPHS1 (NPHS1, Nephrin), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include kidney, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Related Diseases for Familial Nephrotic Syndrome

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Diseases in the Familial 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 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 44)
idRelated DiseaseScoreTop Affiliating Genes
1congenital nephrotic syndrome finnish type12.0
2pierson syndrome11.8
3nephrotic syndrome, type 111.7
4interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital11.5
5pfeiffer syndrome type 210.3NPHS1, NPHS2
6familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.2CD2AP, NPHS2
7familial idiopathic steroid-resistant nephrotic syndrome with minimal changes10.2PLCE1, WT1
8stomatitis10.1NPHS1, NPHS2
9acute myeloid leukemia with cebpa somatic mutations10.1CD2AP, NPHS1
10hypopigmentation of eyelid10.0NPHS1, NPHS2
11spastic monoplegia10.0ACTN4, NPHS1, NPHS2
12discitis10.0NPHS1, TRPC6
13pfeiffer syndrome type 310.0NPHS1, PLCE1, WT1
14diffuse mesangial sclerosis9.9
15nasopharyngeal carcinoma 29.9CD2AP, NPHS1, NPHS2
16unna-thost palmoplantar keratoderma9.9LAMB2, PLCE1, WT1
17exocrine pancreatic insufficiency9.8NPHS1, NPHS2, WT1
18muscular dystrophy-dystroglycanopathy , type a, 19.8CD2AP, NPHS2
19denys-drash syndrome9.7
20microcephaly9.7
21gonadal dysgenesis9.7
22cataract9.6
23neutropenia9.6
24hypothyroidism9.6
25agammaglobulinemia9.6
26cystic kidney disease9.6
27early myoclonic encephalopathy9.6
28dystonia9.6
29peritonitis9.6
30toxoplasmosis9.6
31encephalopathy9.6
32focal segmental glomerulosclerosis9.6
33glomerulosclerosis9.6
34nephrocalcinosis9.6
35nephrotic syndrome, type 49.5CD2AP, NPHS1, NPHS2, WT1
36hyperbiliverdinemia9.2ACTN4, CD2AP, NPHS1, NPHS2, WT1
37suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.1CD2AP, NPHS1, NPHS2, TRPC6, WT1
38corneal dystrophy, fuchs endothelial, 89.0ACTN4, ITGA3, LAMB2, NPHS1, NPHS2
39meacham syndrome8.9ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, WT1
40coronary thrombosis8.7ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, WT1
41ulnar hemimelia8.5ACTN4, CD2AP, NPHS1, NPHS2, PLCE1, TRPC6
42gas gangrene8.5ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, TRPC6
43chronic venous insufficiency8.2ACTN4, CD2AP, LAMB2, NPHS1, NPHS2, PLCE1
44female stress incontinence7.7ACTN4, 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 2228
2
Colchicineapproved11164-86-86167, 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
3Dextrans99

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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MalaCards organs/tissues related to Familial Nephrotic Syndrome:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9ACTN4, CD2AP, ITGA3, NPHS2, PLCE1, TRPC6
2MP:00053767.6ACTN4, CD2AP, ITGA3, LAMB2, NPHS1, NPHS2
3MP:00053677.2ACTN4, CD2AP, ITGA3, LAMB2, NPHS1, NPHS2

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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Clinvar genetic disease variations for Familial Nephrotic Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1NPHS1NM_004646.3(NPHS1): c.1756A> G (p.Arg586Gly)SNVPathogenicrs730880174GRCh38Chr 19, 35845670: 35845670
2NPHS1NM_004646.3(NPHS1): c.2847_2853delTGTGAGT (p.Val950Terfs)deletionPathogenicrs886042517GRCh37Chr 19, 36330472: 36330478
3NPHS1NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs)deletionPathogenicrs386833873GRCh37Chr 19, 36342511: 36342512
4NPHS1NM_004646.3(NPHS1): c.1868G> T (p.Cys623Phe)SNVLikely pathogenic, Pathogenicrs386833895GRCh37Chr 19, 36336332: 36336332
5NPHS1NPHS1, 2-BP DEL, 121CTdeletionPathogenicChr na, -1: -1
6NPHS1NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter)SNVPathogenicrs137853042GRCh37Chr 19, 36322260: 36322260
7NPHS1NPHS1, 2-BP INS, 1306ACinsertionPathogenicChr na, -1: -1
8NPHS1NPHS1, 1-BP INS, 3250GinsertionPathogenicChr na, -1: -1
9NPHS1NPHS1, 1-BP DEL, 1481CdeletionPathogenicChr na, -1: -1
10NPHS1NPHS1, 1-BP DEL, 3250GdeletionPathogenicChr na, -1: -1
11NPHS1NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter)SNVPathogenicrs267606919GRCh37Chr 19, 36321958: 36321958
12NPHS1NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg)SNVPathogenicrs267606917GRCh37Chr 19, 36340185: 36340185
13NPHS1NM_004646.3(NPHS1): c.2464G> A (p.Val822Met)SNVPathogenicrs267606918GRCh37Chr 19, 36333323: 36333323

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:003605710.0NPHS1, NPHS2, TRPC6
2cell-cell junctionGO:00059119.7ACTN4, CD2AP, NPHS2
3plasma membraneGO:00058867.1CD2AP, ITGA3, KIRREL3, NPHS1, NPHS2, PLCE1

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

idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular visceral epithelial cell developmentGO:007224910.3LAMB2, NPHS2
2excretionGO:000758810.1NPHS1, NPHS2
3glomerulus developmentGO:003283510.0PLCE1, WT1
4glomerular basement membrane developmentGO:00328369.9NPHS1, WT1
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:00051788.9ACTN4, ITGA3, LAMB2

Sources for Familial Nephrotic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet