| H00438 | |
| H number | H00438 |
| 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 dysfunction. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (PLOSL1) DAP12 [HSA:7305] [KO:K07992] (PLOSL2) TREM2 [HSA:54209] [KO:K14378] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A44.3 ICD-10: E75.2 MeSH: C536329 OMIM: 221770 618193 |
| Reference | PMID:20500450 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 PMID:20836191 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 PMID:20301376 AUTHORS Paloneva J, Autti T, Hakola P, Haltia MJ TITLE Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) JOURNAL GeneReviews (1993) |