KEGG DISEASE: Ablepharon-macrostomia syndrome

DISEASE: Ablepharon-macrostomia syndrome

Entry

H01932                      Disease

Name

Ablepharon-macrostomia syndrome

Description

Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01932  Ablepharon-macrostomia syndrome

Gene

TWIST2 [HSA:117581] [KO:K09069]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C535557

OMIM:

200110

Reference

PMID:15103726

Authors

Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B

Title

Ablepharon-macrostomia syndrome in a 46-year-old woman.

Journal

Am J Med Genet A 127A:96-8 (2004)
DOI:10.1002/ajmg.a.20658

Reference

PMID:26119818

Authors

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC

Title

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Journal

Am J Hum Genet 97:99-110 (2015)
DOI:10.1016/j.ajhg.2015.05.017

LinkDB

» Japanese version

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