Term Name: | Nasu-Hakola disease |
---|---|
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 |
Definition: | A syndrome 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. |
Ontology: | Human Disease [DOID:0090112] ( DOID:0090112 ) |