Nasu-Hakola disease

Term ID

DOID:0090112

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

• GARD:9921
• MESH:C536329
• OMIM:221770
• ORDO:2770
• SNOMEDCT_US_2023_03_01:702347001
• UMLS_CUI:C1857316

Ontology

Human Disease   ( DOID:0090112 )