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Nasu-Hakola disease

Disease definition

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

ORPHA:2770

  • Synonym(s):
    • NHD
    • PLO-SL
    • PLOSL
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: E75.2
  • OMIM: 221770
  • UMLS: C1857316
  • MeSH: C536329
  • GARD: 9921
  • MedDRA: -

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