| H01286 | |
| H番号 | H01286 |
| 名称 | 小耳症・難聴および口蓋裂 |
| 概要 | Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities. The most common associated malformation is the cleft palate. It has been reported that a mutation in the HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | HOXA2 [HSA:3199] [KO:K09302] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2H.Y ICD-10: Q87.0 MeSH: C567359 OMIM: 612290 |
| 文献 | PMID:18394579 著者 Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G タイトル A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. 雑誌 Am J Hum Genet 82:982-91 (2008) DOI:10.1016/j.ajhg.2008.02.015 PMID:22106030 著者 Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC タイトル Microtia: epidemiology and genetics. 雑誌 Am J Med Genet A 158A:124-39 (2012) DOI:10.1002/ajmg.a.34352 |