| H00618 | |
| H number | H00618 |
| Name | Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism |
| Description | Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait. |
| Category | Congenital malformation |
| Network | - |
| Gene | DLX3 [HSA:1747] [KO:K09315] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Amelogenesis imperfecta and trichodentoosseous dysplasia are described in H00615 and H00487, respectively. |
| Other DBs | ICD-11: LA30.6 ICD-10: K00.2 MeSH: C566293 OMIM: 104510 |
| Reference | PMID:16304440 AUTHORS Stephanopoulos G, Garefalaki ME, Lyroudia K TITLE Genes and related proteins involved in amelogenesis imperfecta. JOURNAL J Dent Res 84:1117-26 (2005) DOI:10.1177/154405910508401206 PMID:17408482 AUTHORS Crawford PJ, Aldred M, Bloch-Zupan A TITLE Amelogenesis imperfecta. JOURNAL Orphanet J Rare Dis 2:17 (2007) DOI:10.1186/1750-1172-2-17 PMID:17552940 AUTHORS Hu JC, Simmer JP TITLE Developmental biology and genetics of dental malformations. JOURNAL Orthod Craniofac Res 10:45-52 (2007) DOI:10.1111/j.1601-6343.2007.00384.x PMID:15666299 AUTHORS Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M TITLE DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. JOURNAL Am J Med Genet A 133A:138-41 (2005) DOI:10.1002/ajmg.a.30521 |