KEGG   DISEASE: Nasu-Hakola diseaseHelp
Entry
H00438                      Disease                                

Name
Nasu-Hakola disease;
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Description
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring during adolescence and progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia, thus neurological impairments seen in this disease are considered to be directly caused by microglial dysfunstion.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00438  Nasu-Hakola disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A44  Leukodystrophies
    H00438  Nasu-Hakola disease
BRITE hierarchy
Pathway
hsa04380  Osteoclast differentiation
Gene
(PLOSL1) DAP12 [HSA:7305] [KO:K07992]
(PLOSL2) TREM2 [HSA:54209] [KO:K14378]
Other DBs
ICD-11: 8A44.3
ICD-10: E75.2
MeSH: C536329
OMIM: 221770 618193
Reference
  Authors
Kaneko M, Sano K, Nakayama J, Amano N
  Title
Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology.
  Journal
Neuropathology 30:463-70 (2010)
DOI:10.1111/j.1440-1789.2010.01127.x
Reference
  Authors
Bianchin MM, Martin KC, de Souza AC, de Oliveira MA, Rieder CR
  Title
Nasu-Hakola disease and primary microglial dysfunction.
  Journal
Nat Rev Neurol 6:2 p following 523 (2010)
DOI:10.1038/nrneurol.2010.17-c1
Reference
  Authors
Paloneva J, Autti T, Hakola P, Haltia MJ
  Title
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)
  Journal
GeneReviews (1993)

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