MCID: CNG116
MIFTS: 15

Congenital Nephrotic Syndrome Finnish Type

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Congenital Nephrotic Syndrome Finnish Type

MalaCards integrated aliases for Congenital Nephrotic Syndrome Finnish Type:

Name: Congenital Nephrotic Syndrome Finnish Type 53
Nephrosis 1, Congenital, Finnish Type 53
Finnish Congenital Nephrotic Syndrome 73
Congenital Nephrotic Syndrome 1 53
Finnish Congenital Nephrosis 53
Nephrosis, Congenital 53
Nphs1 53
Cnf 53

Classifications:



External Ids:

UMLS 73 C0403399

Summaries for Congenital Nephrotic Syndrome Finnish Type

NIH Rare Diseases : 53 Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage kidney disease. Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been reported worldwide. Congenital nephrotic syndrome Finnish type is caused by mutations in the NPHS1 gene and is inherited in an autosomal recessive manner. At this time, kidney transplantation seems to be the only treatment available for this condition.

MalaCards based summary : Congenital Nephrotic Syndrome Finnish Type, also known as nephrosis 1, congenital, finnish type, is related to nephrotic syndrome, type 1 and familial nephrotic syndrome, and has symptoms including edema 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

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

# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 11.1
2 familial nephrotic syndrome 11.1
3 nephrotic syndrome 10.3

Symptoms & Phenotypes for Congenital Nephrotic Syndrome Finnish Type

UMLS symptoms related to Congenital Nephrotic Syndrome Finnish Type:


edema

Drugs & Therapeutics for Congenital Nephrotic Syndrome Finnish Type

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

Genetic Tests for Congenital Nephrotic Syndrome Finnish Type

Anatomical Context for Congenital Nephrotic Syndrome Finnish Type

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

41
Kidney

Publications for Congenital Nephrotic Syndrome Finnish Type

Articles related to Congenital Nephrotic Syndrome Finnish Type:

# Title Authors Year
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

Expression for Congenital Nephrotic Syndrome Finnish Type

Search GEO for disease gene expression data for Congenital Nephrotic Syndrome Finnish Type.

Pathways for Congenital Nephrotic Syndrome Finnish Type

GO Terms for Congenital Nephrotic Syndrome Finnish Type

Sources for Congenital Nephrotic Syndrome Finnish Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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