congenital nephrotic syndrome
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
kidneys
|
| gptkbp:alsoKnownAs |
Finnish type nephrotic syndrome
|
| gptkbp:complication |
renal failure
thrombosis infections |
| gptkbp:diagnosedBy |
genetic testing
urinalysis renal biopsy |
| gptkbp:firstDescribed |
Finnish type described in 1956
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital nephrotic syndrome
|
| gptkbp:ICD-10_code |
N04.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:WT1_gene
gptkb:LAMB2_gene NPHS1 gene NPHS2 gene |
| gptkbp:OMIM |
256300
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
edema
proteinuria hyperlipidemia hypoalbuminemia |
| gptkbp:treatment |
ACE inhibitors
renal transplantation diuretics albumin infusions |
| gptkbp:bfsParent |
gptkb:chromosome_18
|
| gptkbp:bfsLayer |
6
|