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Niemann-Pick disease

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.

Synonyms

  • Niemann-Pick disease with cholesterol esterification block
  • Niemann-Pick disease, subacute juvenile form
  • lipoid histiocytosis
  • lipoid histiocytosis (classical phosphatide)
  • sphingomyelin lipidosis
  • sphingomyelin/cholesterol lipidosis
  • sphingomyelinase deficiency disease
  • type A Niemann-Pick disease
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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