CNF
MCID: CNG116
MIFTS: 24

Congenital Nephrotic Syndrome Finnish Type (CNF) malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Congenital Nephrotic Syndrome Finnish Type

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 63UMLS
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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 44 23
finnish congenital nephrosis 44 21
nphs1 44 46
nephrosis 1, congenital, finnish type 44
finnish congenital nephrotic syndrome 63
congenital nephrotic syndrome 1 44
nephrosis, congenital 44
cnf 44


Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

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21GeneTests, 23GTR
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Genetic tests related to Congenital Nephrotic Syndrome Finnish Type:

id Genetic test Affiliating Genes
1 Congenital Finnish Nephrosis21 NPHS1
2 Finnish Congenital Nephrotic Syndrome23

Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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34MalaCards
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MalaCards organs/tissues related to Congenital Nephrotic Syndrome Finnish Type:

34
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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53PubMed
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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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet