Details of Disease | DrugMAP

General Information of Disease (ID: DISMVCY3)

Disease Name	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Disease Hierarchy	DIS6AABL: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly DISMVCY3: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Disease Identifiers	MONDO ID MONDO_0020750 UMLS CUI C4748657 OMIM ID 618193 MedGen ID 1648374

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TREM2	TTQRMSJ	Strong	Autosomal recessive	[1]
TREM2	TTQRMSJ	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TREM2	OTZXELAX	Strong	Autosomal recessive	[1]
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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	Evidence of CNS -amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation.Neurology. 2017 Dec 12;89(24):2503-2505. doi: 10.1212/WNL.0000000000004747. Epub 2017 Nov 15.