Orphanet: Wolman disease
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Wolman disease

Disease definition

A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.

ORPHA:75233

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.5
  • OMIM: 278000
  • UMLS: C0043208
  • MeSH: D015223
  • GARD: 7899
  • MedDRA: 10053687

Detailed information

Professionals

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