Details of Disease | DrugMAP

General Information of Disease (ID: DISEJ1YA)

Disease Name	Olmsted syndrome 1
Synonyms	Olmsted syndrome; palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1
Definition	Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.
Disease Hierarchy	DISB4C35: Olmsted syndrome DISEJ1YA: Olmsted syndrome 1
Disease Identifiers	MONDO ID MONDO_0100296 UMLS CUI C5542829 OMIM ID 614594 MedGen ID 1778121

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 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPV3	OTC57YC6	Strong	Autosomal dominant	[1]
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References

1	Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet. 2012 Mar 9;90(3):558-64. doi: 10.1016/j.ajhg.2012.02.006.