MCID: CNG116
MIFTS: 25

Congenital Nephrotic Syndrome Finnish Type malady

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

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Aliases & Descriptions for Congenital Nephrotic Syndrome Finnish Type:

Name: Congenital Nephrotic Syndrome Finnish Type 48
Nphs1 48 50
Finnish Congenital Nephrotic Syndrome 68
Nephrosis 1, Congenital, Finnish Type 48
 
Congenital Nephrotic Syndrome 1 48
Finnish Congenital Nephrosis 48
Nephrosis, Congenital 48
Cnf 48

Classifications:



Summaries for Congenital Nephrotic Syndrome Finnish Type

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NIH Rare Diseases:48 Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage kidney disease. Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been reported worldwide. Congenital nephrotic syndrome Finnish type is caused by mutations in the NPHS1 gene and is inherited in an autosomal recessive manner. At this time, kidney transplantation seems to be the only treatment available for this condition. Last updated: 12/6/2016

MalaCards based summary: Congenital Nephrotic Syndrome Finnish Type, also known as nphs1, is related to nephrotic syndrome, type 1 and pfeiffer syndrome type 2. An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (NPHS1, Nephrin), and among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Cytoskeletal Signaling. Related mouse phenotypes are cardiovascular system and renal/urinary system.

Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome, type 111.2
2pfeiffer syndrome type 210.4NPHS1, NPHS2
3familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation10.4CD2AP, NPHS2
4acute myeloid leukemia with cebpa somatic mutations10.4CD2AP, NPHS1
5pfeiffer syndrome type 310.3NPHS1, WT1
6stomatitis10.3NPHS1, NPHS2
7epulis10.2AFP, WT1
8heart malignant hemangiopericytoma10.2AFP, WT1
9nasopharyngeal carcinoma 210.1CD2AP, NPHS1, NPHS2
10spastic monoplegia10.1ACTN4, NPHS1, NPHS2
11large cell keratinizing variant squamous cell breast carcinoma10.1AFP, WT1
12muscular dystrophy-dystroglycanopathy , type a, 110.1CD2AP, NPHS2
13corneal dystrophy, fuchs endothelial, 810.1ACTN4, NPHS1, NPHS2
14testicular gonadoblastoma10.1AFP, WT1
15hypopigmentation of eyelid10.1NPHS1, NPHS2
16exocrine pancreatic insufficiency10.1NPHS1, NPHS2, WT1
17malignant epithelial mesothelioma10.1AFP, WT1
18coronary thrombosis10.0NPHS1, NPHS2, WT1
19breast squamous cell carcinoma10.0AFP, WT1
20orbit rhabdomyosarcoma10.0AFP, WT1
21suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria9.8CD2AP, NPHS1, NPHS2, WT1
22nephrotic syndrome, type 49.8CD2AP, NPHS1, NPHS2, WT1
23klinefelter's syndrome9.7AFP, WT1
24ulnar hemimelia9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
25female stress incontinence9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
26meacham syndrome9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
27gas gangrene9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
28chronic venous insufficiency9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1
29hyperbiliverdinemia9.5ACTN4, CD2AP, NPHS1, NPHS2, WT1

Graphical network of the top 20 diseases related to Congenital Nephrotic Syndrome Finnish Type:



Diseases related to congenital nephrotic syndrome finnish type

Symptoms & Phenotypes for Congenital Nephrotic Syndrome Finnish Type

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MGI Mouse Phenotypes related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.7ACTN4, CD2AP, LPL, NPHS2, TJP1, WT1
2MP:00053677.4ACTN4, CD2AP, KIRREL, NPHS1, NPHS2, TJP1
3MP:00053787.4ACHE, ACTN4, CD2AP, KIRREL, LPL, NPHS2
4MP:00053766.6ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL
5MP:00107686.5ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL

Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Nephrotic Syndrome Finnish Type

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

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Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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Publications for Congenital Nephrotic Syndrome Finnish Type

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Articles related to Congenital Nephrotic Syndrome Finnish Type:

idTitleAuthorsYear
1
Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type. (19309778)
2009
2
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type. (18846635)
2008
3
Congenital nephrotic syndrome, Finnish type: sonographic appearance and pathologic correlation. (14606567)
2003
4
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (10577936)
1999
5
Congenital nephrotic syndrome (Finnish type). (2992230)
1985
6
Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid. (6207521)
1984

Variations for Congenital Nephrotic Syndrome Finnish Type

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Clinvar genetic disease variations for Congenital Nephrotic Syndrome Finnish Type:

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 Congenital Nephrotic Syndrome Finnish Type

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Search GEO for disease gene expression data for Congenital Nephrotic Syndrome Finnish Type.

Pathways for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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GO Terms for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Cellular components related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:00360579.9NPHS1, NPHS2
2perinuclear region of cytoplasmGO:00484719.2ACHE, ACTN4, CD2AP, KIRREL
3cell-cell junctionGO:00059118.9ACTN4, CD2AP, KIRREL, NPHS2, TJP1
4plasma membraneGO:00058867.2ACHE, CD2AP, KIRREL, LPL, NPHS1, NPHS2

Biological processes related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.2NPHS1, WT1
2excretionGO:00075889.5KIRREL, NPHS1, NPHS2
3positive regulation of actin filament polymerizationGO:00308389.4KIRREL, NPHS1

Molecular functions related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.2KIRREL, NPHS1
2protein bindingGO:00055155.8ACHE, ACTN4, AFP, CD2AP, KIRREL, LPL

Sources for Congenital Nephrotic Syndrome Finnish Type

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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