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Niemann-Pick disease type A

Orpha number ORPHA77292
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E75.2
ICD-O -
OMIM
UMLS
  • C0268242
MeSH
  • D052536
MedDRA -

Summary

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.


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