Nasu-Hakola disease (DOID:0090112)
Alliance: disease page
Synonyms: NHD; PLO-SL; PLOSL; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; presenile dementia with bone cysts; progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
Alt IDs: OMIM:221770, MESH:C536329, ORDO:2770, UMLS_CUI:C1857316
Definition: An autosomal recessive disease that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.