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 49
Nephrosis 1, Congenital, Finnish Type 49
Finnish Congenital Nephrotic Syndrome 69
Congenital Nephrotic Syndrome 1 49
Finnish Congenital Nephrosis 49
Nephrosis, Congenital 49
Nphs1 49
Cnf 49

Classifications:



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UMLS 69 C0403399

Summaries for Congenital Nephrotic Syndrome Finnish Type

NIH Rare Diseases : 49 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. Last updated: 12/6/2016

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 11.2
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:

38
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

ClinVar genetic disease variations for Congenital Nephrotic Syndrome Finnish Type:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHS1 NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs) deletion Pathogenic rs386833873 GRCh37 Chromosome 19, 36342511: 36342512
2 NPHS1 NM_004646.3(NPHS1): c.1715G> A (p.Ser572Asn) single nucleotide variant Pathogenic/Likely pathogenic rs386833889 GRCh37 Chromosome 19, 36336613: 36336613
3 NPHS1 NM_004646.3(NPHS1): c.1868G> T (p.Cys623Phe) single nucleotide variant Pathogenic/Likely pathogenic rs386833895 GRCh37 Chromosome 19, 36336332: 36336332
4 NPHS1 NM_004646.3(NPHS1): c.3250dupG (p.Val1084Glyfs) duplication Pathogenic/Likely pathogenic rs386833936 GRCh37 Chromosome 19, 36322581: 36322581
5 NPHS1 NM_004646.3(NPHS1): c.468C> G (p.Tyr156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833943 GRCh37 Chromosome 19, 36341921: 36341921
6 NPHS1 NM_004646.3(NPHS1): c.532C> T (p.Gln178Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833951 GRCh37 Chromosome 19, 36341342: 36341342
7 NPHS1 NM_004646.3(NPHS1): c.1756A> G (p.Arg586Gly) single nucleotide variant Pathogenic rs730880174 GRCh38 Chromosome 19, 35845670: 35845670
8 NPHS1 NM_004646.3(NPHS1): c.2335-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs150038620 GRCh38 Chromosome 19, 35842551: 35842551
9 NPHS1 NPHS1, 2-BP DEL, 121CT deletion Pathogenic
10 NPHS1 NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs137853042 GRCh37 Chromosome 19, 36322260: 36322260
11 NPHS1 NPHS1, 2-BP INS, 1306AC insertion Pathogenic
12 NPHS1 NPHS1, 1-BP INS, 3250G insertion Pathogenic
13 NPHS1 NPHS1, 1-BP DEL, 1481C deletion Pathogenic
14 NPHS1 NPHS1, 1-BP DEL, 3250G deletion Pathogenic
15 NPHS1 NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter) single nucleotide variant Pathogenic rs267606919 GRCh37 Chromosome 19, 36321958: 36321958
16 NPHS1 NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg) single nucleotide variant Pathogenic rs267606917 GRCh37 Chromosome 19, 36340185: 36340185
17 NPHS1 NM_004646.3(NPHS1): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs267606918 GRCh37 Chromosome 19, 36333323: 36333323
18 NPHS1 NM_004646.3(NPHS1): c.2847_2853delTGTGAGT (p.Val950Terfs) deletion Pathogenic rs886042517 GRCh37 Chromosome 19, 36330472: 36330478
19 NPHS1 NM_004646.3(NPHS1): c.2206G> A (p.Val736Met) single nucleotide variant Pathogenic rs1131692245 GRCh37 Chromosome 19, 36335011: 36335011

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

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