Details of Disease | DrugMAP

General Information of Disease (ID: DIS8D6P6)

Disease Name	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Synonyms	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Disease Hierarchy	DIS6AABL: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly DIS8D6P6: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Disease Identifiers	MONDO ID MONDO_0020749 UMLS CUI C4721893 OMIM ID 221770 MedGen ID 1648386

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TYROBP	OTATV63W	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TREM2	TTQRMSJ	Strong	Genetic Variation	[2]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
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.