| H01932 | |
| H number | H01932 |
| 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 |
| Network | - |
| Gene | TWIST2 [HSA:117581] [KO:K09069] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.0 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 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 |