OBO ID: DOID:0090112
Term Name: Nasu-Hakola disease Search Ontology:
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. (3)
References:
Ontology: Human Disease   (DOID:0090112)
OTHER Nasu-Hakola disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None