Niemann-Pick disease type A

ORPHA: 77292

Contents

1. Overview
2. Available Treatments
3. Classification & Codes

Overview

Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:77292

Niemann-Pick disease type A

Orphanet	`ORPHA:77292`
Treatments	0 drug(s)
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO