Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques

Disease ID:717
Name:Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
Associated with:1 target
Synonyms
Olmsted syndrome
Database Links
OMIM: 614594
Orphanet: ORPHA659

Targets

TRPV3
References:  2
Mutations:  TRPV3 is associated with 4 mutation. Click here for details

Ligands

No ligand related data available for Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques

References

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1. Danso-Abeam D, Zhang J, Dooley J, Staats KA, Van Eyck L, Van Brussel T, Zaman S, Hauben E, Van de Velde M, Morren MA et al.. (2013) Olmsted syndrome: exploration of the immunological phenotype. Orphanet J Rare Dis, 8: 79. [PMID:23692804]

2. Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X et al.. (2012) Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am. J. Hum. Genet., 90 (3): 558-64. [PMID:22405088]