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GENATLAS PHENOTYPE

last update : 19-02-2018

Symbol	PLOSL1
Location	19q13.1
Name	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Other name(s)	Nasu-Hakola disease 1 dementia, progressive, with lipomembranous polycystic osteodysplasia brain-bone-fat disease
Corresponding gene	TYROBP
Other symbol(s)	PLOSL,NHD
Main clinical features	onset in the third decade, psychotic symptoms rapidly progressing to presenile frontal-lobe dementia and bone cysts restricted, leading to death before 50 years potentially a cognitive disorder caused by a primary dysfunction of CNS microglia (PMID: 18404378))
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	neurology
Type	disease

Gene product

Name	TYRO protein tyrosine kinase binding protein

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion			deletions between two Alu sequences

Remark(s)