U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Summary

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005). For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see 221770. [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PLOSL2, TREM-2, Trem2a, Trem2b, Trem2c, TREM2
    Summary: triggering receptor expressed on myeloid cells 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.