Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. (Orphanet Rare Disease Ontology, Orphanet_2770)
External Link http://www.omim.org/entry/221770
Similar Terms
Downloads & Tools

Genes

2 genes associated with the Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
TREM2 triggering receptor expressed on myeloid cells 2
TYROBP TYRO protein tyrosine kinase binding protein