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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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 based summary: 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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Sources:
42NIH Rare Diseases, 22GTR, 20GeneTests, 44Novoseek, 62UMLS
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Congenital Nephrotic Syndrome Finnish Type, Aliases & Descriptions:

Name: Congenital Nephrotic Syndrome Finnish Type 42 22
Finnish Congenital Nephrosis 42 20
Nphs1 42 44
Nephrosis 1, Congenital, Finnish Type 42
 
Finnish Congenital Nephrotic Syndrome 62
Congenital Nephrotic Syndrome 1 42
Nephrosis, Congenital 42
Cnf 42


Classifications:

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


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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Drug clinical trials:

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Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

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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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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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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
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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Expression for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet