KEGG DISEASE: Olmsted syndrome

DISEASE: Olmsted syndrome

Entry

H02517                      Disease

Name

Olmsted syndrome

Description

Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H02517  Olmsted syndrome

Gene

(OLMS1) TRPV3 [HSA:162514] [KO:K04972]
(OLMS2) PERP [HSA:64065] [KO:K10136]
(OLMSX) MBTPS2 [HSA:51360] [KO:K07765]

Other DBs

ICD-11:

EC20.30

OMIM:

614594 619208 300918

Reference

PMID:22405088

Authors

Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y

Title

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.

Journal

Am J Hum Genet 90:558-64 (2012)
DOI:10.1016/j.ajhg.2012.02.006

Reference

PMID:30321533

Authors

Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschke P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A

Title

Mutations in PERP Cause Dominant and Recessive Keratoderma.

Journal

J Invest Dermatol 139:380-390 (2019)
DOI:10.1016/j.jid.2018.08.026

Reference

PMID:22931912

Authors

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP

Title

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Journal

J Invest Dermatol 133:571-3 (2013)
DOI:10.1038/jid.2012.289

LinkDB

» Japanese version

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