nephrotic syndrome type 3

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf genetic disorder
nephrotic syndrome
gptkbp:alsoKnownAs steroid-resistant nephrotic syndrome type 3
gptkbp:associatedWith focal segmental glomerulosclerosis
gptkbp:firstDescribed 2002
https://www.w3.org/2000/01/rdf-schema#label nephrotic syndrome type 3
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith NPHS2 gene
gptkbp:OMIM 615573
gptkbp:onset childhood
gptkbp:symptom edema
proteinuria
hyperlipidemia
hypoalbuminemia
gptkbp:treatment immunosuppressive therapy
kidney transplantation
gptkbp:bfsParent gptkb:PLCE1
gptkbp:bfsLayer 7