CNF
MCID: CNG116
MIFTS: 39

Congenital Nephrotic Syndrome Finnish Type (CNF) malady

Nephrological diseases category

Summaries for Congenital Nephrotic Syndrome Finnish Type

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 nephrotic syndrome and breast cancer. 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

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42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Classifications:

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Anatomical: Nephrological diseases


Aliases & Descriptions:

congenital nephrotic syndrome finnish type 42 22
finnish congenital nephrosis 42 20
nephrosis 1, congenital, finnish type 42
finnish congenital nephrotic syndrome 60
congenital nephrotic syndrome 1 42
nephrosis, congenital 42
cnf 42


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 84)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome30.6NPHS1, TF, VTN
2breast cancer30.2VEGFA, VTN, CP, KDR
3nephrotic syndrome, type 110.3
4pierson syndrome10.2
5nephrosis10.0NPHS1
6sarcoidosis10.0VTN
7fibrosarcoma10.0VTN
8laryngeal benign neoplasm10.0CP
9pneumonia10.0VTN
10adenoma10.0CP
11aceruloplasminemia10.0CP
12cerebellar ataxia10.0CP
13lupus nephritis10.0VTN
14dementia10.0CP
15cystic fibrosis10.0CP
16ependymoma10.0TTR
17cholestasis10.0CP
18polyneuropathy10.0TTR
19schizophrenia10.0CP
20amyloidosis10.0TTR
21uremia10.0TF
22malignant mesothelioma10.0KDR
23nephritis10.0NPHS1, VTN
24glomerulonephritis10.0VTN, NPHS1
25hyperglycemia10.0NPHS1, VTN
26membranoproliferative glomerulonephritis10.0VTN, NPHS1
27atherosclerosis10.0CP, VTN
28age related macular degeneration10.0VEGFA
29asthma10.0VTN, CP
30psoriasis10.0VTN, KDR
31carpal tunnel syndrome10.0TTR
32membranous glomerulonephritis10.0NPHS1, VTN
33insulin resistance10.0NPHS1, TTR
34myeloma10.0VEGFA
35malaria10.0CP, KDR
36hypothyroidism10.0TTR
37focal segmental glomerulosclerosis10.0NPHS1, VTN
38arthritis10.0GALNS, VTN
39blindness10.0VEGFA
40hepatitis10.0TTR, CP
41pulmonary fibrosis10.0VTN
42primary hyperoxaluria10.0VEGFA
43siderosis10.0CP, TF
44hypochromic microcytic anemia10.0CP, TF
45lipoid nephrosis10.0NPHS1, TF
46iron deficiency anemia10.0TF
47hemosiderosis10.0CP, TF
48protein-energy malnutrition10.0TF, TTR
49hemochromatosis10.0TF, CP
50galactosemia10.0TF, 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

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Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

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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

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32MalaCards
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MalaCards organs/tissues related to Congenital Nephrotic Syndrome Finnish Type:

32
Kidney

Animal Models for Congenital Nephrotic Syndrome Finnish Type or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Nephrotic Syndrome Finnish Type:

36
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

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Genetic Variations for Congenital Nephrotic Syndrome Finnish Type

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Expression for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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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

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37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG
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Compounds for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR, 24HMDB
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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 acid4410.3VTN
2fenton4410.1CP
3ferrozine449.9TF, CP
4ferrous ammonium sulfate449.9TF, CP
5sodium chlorate449.8GALNS, VTN
6apotransferrin449.8TF, CP
7ferric ammonium citrate449.7TF, CP
8suprofen44 1110.6TF, CP
9serine449.6VTN, GALNS, NPHS1
10alpha tocopherol449.6TTR, TF
11azd 2171449.6VEGFA, KDR
12su6668449.6VEGFA, KDR
13ptk787449.6VEGFA, KDR
14zd6474449.5KDR, VEGFA
15axitinib44 59 1111.5VEGFA, KDR
16sodium dodecylsulfate449.5TTR, VTN, CP
17glutaraldehyde449.4VTN, TTR, TF
18tocopherol449.4CP, TTR, TF
19vitamin b12449.3CP, TTR, TF
20betacarotene449.3TF, TTR, CP
21thalidomide44 49 59 1112.2VTN, KDR, VEGFA
22su5416449.1VEGFA, KDR
23aspartate449.1GALNS, TTR, VTN, CP
24sorafenib44 49 1111.1KDR, TTR, VEGFA
25carbohydrates449.0TF, TTR, CP
26simvastatin44 49 59 28 11 2414.0NPHS1, VEGFA, KDR
27epinephrine44 11 2411.0TF, TTR, VTN, CP
28fibrinogen448.9TF, TTR, VTN, CP
29dexamethasone44 49 28 1111.9VTN, KDR, VEGFA, NPHS1
30thyroxine44 249.9CP, TTR, TF
31polysaccharide448.9GALNS, TF, KDR, VTN
32folate448.9TF, TTR, KDR, CP
33agar448.9TF, TTR, KDR, CP
34glutamine448.9TF, TTR, VTN, CP
35adenine44 11 2410.8GALNS, TF, TTR, CP
36heparan sulfate44 249.8VTN, KDR, GALNS
37heparin44 28 11 2411.8GALNS, VEGFA, VTN, CP
38creatinine448.8NPHS1, TF, TTR, CP
39dopamine44 28 11 2411.7CP, KDR, TTR, TF
40retinoic acid44 249.7NPHS1, TTR, KDR, VTN, CP
41hyaluronic acid44 249.7VTN, TTR, VEGFA, GALNS
42cyclosporin a44 28 5910.7KDR, TTR, TF, GALNS
43prostacyclin448.6TF, VEGFA, KDR, VTN
44tamoxifen44 49 28 1111.6TF, VEGFA, KDR, VTN
45lactate448.5TF, TTR, KDR, VTN, CP
46cysteine448.5GALNS, TTR, KDR, VTN, CP
47paraffin448.4TF, VEGFA, TTR, KDR
48arginine448.3NPHS1, GALNS, TTR, KDR, VTN, CP
49estrogen448.0TF, VEGFA, TTR, KDR, CP
50vegf447.9NPHS1, TF, VEGFA, KDR, VTN, CP

GO Terms for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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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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Sources for Congenital Nephrotic Syndrome Finnish Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet