nephrotic syndrome type 1

MeSH: C535761ORPHA: 8391 Treatment Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

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

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
rituximab Orphan Cold Chain	IV infusion 10mg/mL (100mg/10mL, 500mg/50mL vials)	FDA Approved	11	14d

Clinical Presentation

Signs and symptoms associated with nephrotic syndrome type 1, sourced from HPO and Orphanet clinical annotations.

Abnormal renal tubule morphologyProteinuriaNephrotic syndromeDelayed eruption of permanent teethElevated amniotic fluid alpha-fetoprotein

Classification & Codes

MeSH Code

C535761

Orphanet Code

ORPHA:839

nephrotic syndrome type 1

MeSH	`C535761`
Orphanet	`ORPHA:839`
Treatments	1 drug(s)
Symptoms on record	5 signs
Status	published

Treatment Summary

rituximab· Orphan

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO