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Niemann-Pick disease type A

Disease definition

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.


  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 257200
  • UMLS: C0268242
  • MeSH: D052536
  • GARD: 7206
  • MedDRA: -

Detailed information


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