Details of Disease

General Information of Disease (ID: DIS6AABL)

Disease Name Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Synonyms
brain-bone-fat disease; dementia, prefrontal, with bone cysts; dementia, progressive, with lipomembranous polycystic osteodysplasia; PLO-SL; NHD; polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly; Nasu-Hakola disease; PLOSL; progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease; presenile dementia with bone cysts; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Definition 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.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISCPWH9: Autosomal recessive disease
DISOTEY1: Primary osteolysis
DIS6AABL: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Disease Identifiers
MONDO ID
MONDO_0009092
MESH ID
C536329
UMLS CUI
C1857316
MedGen ID
387795
Orphanet ID
2770
SNOMED CT ID
702347001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TYROBP OTATV63W Supportive Autosomal recessive [1]
TREM2 OTZXELAX Supportive Autosomal recessive [1]
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This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TREM2 TTQRMSJ Supportive Autosomal recessive [1]
TREM2 TTQRMSJ Strong Genetic Variation [2]
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References

1 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy. 2002 Jan 24 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement.Neurobiol Aging. 2020 Feb;86:201.e1-201.e7. doi: 10.1016/j.neurobiolaging.2019.01.009. Epub 2019 Jan 24.