CNF
MCID: CNG116
MIFTS: 39

Congenital Nephrotic Syndrome Finnish Type (CNF) malady

Nephrological category

Summaries for Congenital Nephrotic Syndrome Finnish Type

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Congenital nephrotic syndrome of finnish type is a genetic condition of the kidney that presents in utero or within the first three months of life. the syndrome is characterized by nephrotic syndrome (a group of symptoms including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling), which progresses rapidly to end-stage kidney disease.  although more commonly seen in individuals of finnish descent, congenital nephrotic syndrome of finnish type has been reported worldwide. congenital nephrotic syndrome of finnish type is inherited in an autosomal recessive fashion and is caused by mutations in a gene called nphs1. at this time, kidney transplantation seems to be the only treatment available for this condition. last updated: 8/31/2009

MalaCards: Congenital Nephrotic Syndrome Finnish Type, also known as finnish congenital nephrosis, is related to nephrosis and n syndrome. An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (nephrosis 1, congenital, Finnish type (nephrin)), and among its related pathways are HIF-2-alpha transcription factor network and Signaling events mediated by TCPTP. The compounds sialic acid and fenton have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are vision/eye and homeostasis/metabolism.

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

Sources:
43NIH Rare Diseases, 22GTR, 20GeneTests, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Aliases & Descriptions:

congenital nephrotic syndrome finnish type 43 22
finnish congenital nephrosis 43 20
nephrosis 1, congenital, finnish type 43
finnish congenital nephrotic syndrome 61
congenital nephrotic syndrome 1 43
nephrosis, congenital 43
cnf 43


Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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17GeneCards, 18GeneDecks
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Diseases related to Congenital Nephrotic Syndrome Finnish Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1nephrosis30.2NPHS1
2n syndrome10.4
3nephrotic syndrome, type 110.3
4pierson syndrome10.2
5sarcoidosis10.0VTN
6fibrosarcoma10.0VTN
7laryngeal carcinoma10.0CP
8pneumonia10.0VTN
9adenoma10.0CP
10aceruloplasminemia10.0CP
11cerebellar ataxia10.0CP
12lupus nephritis10.0VTN
13dementia10.0CP
14cystic fibrosis10.0CP
15ependymoma10.0TTR
16cholestasis10.0CP
17polyneuropathy10.0TTR
18schizophrenia10.0CP
19amyloidosis10.0TTR
20uremia10.0TF
21malignant mesothelioma10.0KDR
22nephritis10.0NPHS1, VTN
23glomerulonephritis10.0VTN, NPHS1
24hyperglycemia10.0NPHS1, VTN
25membranoproliferative glomerulonephritis10.0VTN, NPHS1
26atherosclerosis10.0CP, VTN
27age related macular degeneration10.0VEGFA
28asthma10.0VTN, CP
29psoriasis10.0VTN, KDR
30carpal tunnel syndrome10.0TTR
31membranous glomerulonephritis10.0NPHS1, VTN
32insulin resistance10.0NPHS1, TTR
33myeloma10.0VEGFA
34malaria10.0CP, KDR
35hypothyroidism10.0TTR
36focal segmental glomerulosclerosis10.0NPHS1, VTN
37arthritis10.0GALNS, VTN
38blindness10.0VEGFA
39hepatitis10.0TTR, CP
40pulmonary fibrosis10.0VTN
41primary hyperoxaluria10.0VEGFA
42siderosis10.0CP, TF
43hypochromic microcytic anemia10.0CP, TF
44lipoid nephrosis10.0NPHS1, TF
45iron deficiency anemia10.0TF
46hemosiderosis10.0CP, TF
47protein-energy malnutrition10.0TF, TTR
48hemochromatosis10.0TF, CP
49galactosemia10.0TF, TTR
50nutritional deficiency disease10.0TF, TTR

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



Diseases related to congenital nephrotic syndrome finnish type

Clinical Features for Congenital Nephrotic Syndrome Finnish Type

Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Nephrotic Syndrome Finnish Type

Drug clinical trials:

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Search NIH Clinical Center for Congenital Nephrotic Syndrome Finnish Type

Search CenterWatch for Congenital Nephrotic Syndrome Finnish Type

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

Sources:
20GeneTests, 22GTR
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Genetic tests related to Congenital Nephrotic Syndrome Finnish Type:

id Genetic test Affiliating Genes
1 Congenital Finnish Nephrosis20 NPHS1
2 Finnish Congenital Nephrotic Syndrome22

Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

Sources:
33MalaCards
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MalaCards organs/tissues related to Congenital Nephrotic Syndrome Finnish Type:

33
Kidney

Animal Models for Congenital Nephrotic Syndrome Finnish Type or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Congenital Nephrotic Syndrome Finnish Type:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.7CP, KDR, TTR, VEGFA, GALNS
2MP:00053766.1CP, NPHS1, GALNS, TF, VEGFA, TTR

Publications for Congenital Nephrotic Syndrome Finnish Type

Sources:
51PubMed
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Articles related to Congenital Nephrotic Syndrome Finnish Type:

(show all 21)
idTitleAuthorsYear
1
Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type. (24089175)
2013
2
Changes in glomerular mesangium in kidneys with congenital nephrotic syndrome of the Finnish type. (20020158)
2010
3
Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type. (19309778)
2009
4
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. (19194555)
2009
5
Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses. (19153070)
2009
6
Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss. (19423745)
2009
7
Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1). (17519780)
2007
8
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. (16518627)
2006
9
Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). (16362719)
2006
10
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. (15906409)
2005
11
Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. (12495287)
2002
12
Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin. (11884936)
2002
13
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. (10652016)
2000
14
Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. (9915943)
1999
15
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (10577936)
1999
16
Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis. (9067923)
1997
17
Noncollagenous matrix components of glomeruli in congenital nephrotic syndrome of the Finnish type: evidence of abnormal splitting of nidogen? (8931984)
1996
18
Mechanisms of proteinuria: vascular permeability factor in congenital nephrotic syndrome of the Finnish type. (8910928)
1996
19
Glomerular anionic charge in congenital nephrotic syndrome of the Finnish type. (7591846)
1995
20
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. (8178817)
1994
21
Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. (8258963)
1993

Genetic Variations for Congenital Nephrotic Syndrome Finnish Type

Expression for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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

Pathways for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 30KEGG
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Compounds for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB, 29IUPHAR
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Compounds related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards/GeneDecks:

(show top 50)    (show all 79)
idCompoundScoreTop Affiliating Genes
1sialic acid4510.3VTN
2fenton4510.1CP
3ferrozine459.9TF, CP
4ferrous ammonium sulfate459.9TF, CP
5sodium chlorate459.8GALNS, VTN
6apotransferrin459.8TF, CP
7ferric ammonium citrate459.7TF, CP
8suprofen45 1110.6TF, CP
9alpha tocopherol459.6TF, TTR
10serine459.6VTN, NPHS1, GALNS
11azd 2171459.6KDR, VEGFA
12ptk787459.6VEGFA, KDR
13su6668459.6KDR, VEGFA
14zd6474459.5KDR, VEGFA
15sodium dodecylsulfate459.5CP, VTN, TTR
16axitinib45 60 1111.4KDR, VEGFA
17glutaraldehyde459.4TF, TTR, VTN
18tocopherol459.4CP, TF, TTR
19vitamin b12459.3TF, TTR, CP
20betacarotene459.3TTR, TF, CP
21thalidomide45 50 60 1112.2KDR, VEGFA, VTN
22su5416459.1VEGFA, KDR
23aspartate459.1CP, GALNS, TTR, VTN
24sorafenib45 50 1111.1KDR, TTR, VEGFA
25carbohydrates459.0TTR, TF, CP
26epinephrine45 11 2411.0CP, VTN, TTR, TF
27fibrinogen458.9TTR, CP, VTN, TF
28dexamethasone45 50 29 1111.9NPHS1, VEGFA, KDR, VTN
29thyroxine45 249.9CP, TTR, TF
30simvastatin45 50 60 29 11 2413.9KDR, NPHS1, VEGFA
31polysaccharide458.9TF, VTN, KDR, GALNS
32folate458.9CP, TF, TTR, KDR
33agar458.9TF, TTR, CP, KDR
34glutamine458.9TF, VTN, CP, TTR
35adenine45 11 2410.8GALNS, TF, TTR, CP
36heparan sulfate45 249.8VTN, GALNS, KDR
37heparin45 29 11 2411.8GALNS, VEGFA, CP, VTN
38creatinine458.8CP, TTR, TF, NPHS1
39dopamine45 29 11 2411.7CP, TF, KDR, TTR
40retinoic acid45 249.7CP, VTN, NPHS1, TTR, KDR
41hyaluronic acid45 249.7GALNS, VEGFA, TTR, VTN
42cyclosporin a45 29 6010.7GALNS, TTR, KDR, TF
43prostacyclin458.6TF, KDR, VTN, VEGFA
44tamoxifen45 50 29 1111.6VEGFA, KDR, TF, VTN
45lactate458.5TTR, TF, KDR, VTN, CP
46cysteine458.5CP, TTR, GALNS, KDR, VTN
47paraffin458.4TF, VEGFA, TTR, KDR
48arginine458.3TTR, KDR, VTN, CP, GALNS, NPHS1
49estrogen458.0TF, VEGFA, TTR, KDR, CP
50vegf457.9VEGFA, KDR, VTN, CP, TF, NPHS1

GO Terms for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

Sources:
16Gene Ontology
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Cellular components related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.3CP, VTN, TTR, VEGFA
2extracellular regionGO:0055767.0CP, TF, VEGFA, TTR, KDR, VTN

Biological processes related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:0309499.5VTN, VEGFA
2surfactant homeostasisGO:0431299.5KDR, VEGFA
3positive regulation of positive chemotaxisGO:0509279.4KDR, VEGFA
4positive regulation of focal adhesion assemblyGO:0518949.4KDR, VEGFA
5cell migration involved in sprouting angiogenesisGO:0020429.4VEGFA, KDR
6cellular response to vascular endothelial growth factor stimulusGO:0359249.3KDR, VEGFA
7vascular endothelial growth factor receptor signaling pathwayGO:0480109.3VEGFA, KDR
8branching morphogenesis of an epithelial tubeGO:0487549.3KDR, VEGFA
9positive regulation of endothelial cell migrationGO:0105959.2KDR, VEGFA
10cell maturationGO:0484699.2KDR, VEGFA
11positive regulation of mesenchymal cell proliferationGO:0020539.1VEGFA, KDR
12ovarian follicle developmentGO:0015418.9KDR, VEGFA

Molecular functions related to Congenital Nephrotic Syndrome Finnish Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.3VTN, VEGFA

Products for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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  • Antibodies

Sources for Congenital Nephrotic Syndrome Finnish Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet