Details of Disease | DrugMAP

General Information of Disease (ID: DIST2Y4B)

Disease Name	Obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques
Definition	Split this term to create new OMIMPS and child.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIST2Y4B: Obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV3	TT946IA	Strong	Autosomal dominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MBTPS2	OT67CC7W	Supportive	Autosomal dominant	[2]
PERP	OTP0YL53	Supportive	Autosomal dominant	[3]
TRPV3	OTC57YC6	Strong	Autosomal dominant	[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	A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol. 2013 Feb;133(2):571-3. doi: 10.1038/jid.2012.289. Epub 2012 Aug 30.
3	Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol. 2019 Feb;139(2):380-390. doi: 10.1016/j.jid.2018.08.026. Epub 2018 Oct 12.