MCID: CNG116
MIFTS: 14

Congenital Nephrotic Syndrome Finnish Type malady

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

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Aliases & Descriptions for Congenital Nephrotic Syndrome Finnish Type:

Name: Congenital Nephrotic Syndrome Finnish Type 46
Nphs1 46 48
Nephrosis 1, Congenital, Finnish Type 46
Finnish Congenital Nephrotic Syndrome 66
 
Congenital Nephrotic Syndrome 1 46
Finnish Congenital Nephrosis 46
Nephrosis, Congenital 46
Cnf 46

Classifications:



Summaries for Congenital Nephrotic Syndrome Finnish Type

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NIH Rare Diseases:46 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 nphs1, is related to nephrotic syndrome, type 1 and nephrotic syndrome. An important gene associated with Congenital Nephrotic Syndrome Finnish Type is NPHS1 (NPHS1, Nephrin). Affiliated tissues include kidney.

Related Diseases for Congenital Nephrotic Syndrome Finnish Type

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Diseases related to Congenital Nephrotic Syndrome Finnish Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome, type 111.3
2nephrotic syndrome10.3

Symptoms for Congenital Nephrotic Syndrome Finnish Type

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Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Nephrotic Syndrome Finnish Type

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

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Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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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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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
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type. (18846635)
2008
3
Congenital nephrotic syndrome, Finnish type: sonographic appearance and pathologic correlation. (14606567)
2003
4
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (10577936)
1999
5
Congenital nephrotic syndrome (Finnish type). (2992230)
1985
6
Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid. (6207521)
1984

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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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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GO Terms for genes affiliated with Congenital Nephrotic Syndrome Finnish Type

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Sources for Congenital Nephrotic Syndrome Finnish Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet