nephrotic syndrome type 1

Summary
Synonym
  • Finnish congenital nephrosis
Definition
A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
Super Class
autosomal recessive disease familial nephrotic syndrome
Disease Ontology
DOID:0080390
Mondo Disease Ontology
UMLS
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4868 NPHS1 NPHS1 adhesion molecule, nephrin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O60500 Nephrin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025