CNF
MCID: CNG116
MIFTS: 24

Congenital Nephrotic Syndrome Finnish Type (CNF) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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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 nephrotic syndrome and proteinuria. An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (nephrosis 1, congenital, Finnish type (nephrin)). Affiliated tissues include kidney.

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

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43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

congenital nephrotic syndrome finnish type 43 22
finnish congenital nephrosis 43 20
nphs1 43 45
nephrosis 1, congenital, finnish type 43
finnish congenital nephrotic syndrome 62
congenital nephrotic syndrome 1 43
nephrosis, congenital 43
cnf 43


Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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



Diseases related to congenital nephrotic syndrome finnish type

Symptoms for Congenital Nephrotic Syndrome Finnish Type

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Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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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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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

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Publications for Congenital Nephrotic Syndrome Finnish Type

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52PubMed
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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
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (10577936)
1999

Variations for Congenital Nephrotic Syndrome Finnish Type

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Congenital Nephrotic Syndrome Finnish Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1NPHS1NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs)deletionPathogenicrs386833873GRCh37Chr 19, 36342511: 36342512
2NPHS1NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter)single nucleotide variantPathogenicrs137853042GRCh37Chr 19, 36322260: 36322260
3NPHS1NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter)single nucleotide variantPathogenicrs267606919GRCh37Chr 19, 36321958: 36321958
4NPHS1NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg)single nucleotide variantPathogenicrs267606917GRCh37Chr 19, 36340185: 36340185
5NPHS1NM_004646.3(NPHS1): c.2464G> A (p.Val822Met)single nucleotide variantPathogenicrs267606918GRCh37Chr 19, 36333323: 36333323

Expression for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Pathways for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Compounds 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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Products for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Nephrotic Syndrome Finnish Type

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet