| H00868 | |
| H番号 | H00868 |
| 名称 | Stapes ankylosis with broad thumb and toes |
| 概要 | This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms, has been implicated in the disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | NOG [HSA:9241] [KO:K04658] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536943 OMIM: 184460 |
| 文献 | PMID:9220188 著者 Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M タイトル The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. 雑誌 Clin Dysmorphol 6:195-203 (1997) DOI:10.1097/00019605-199707000-00001 PMID:12089654 著者 Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM タイトル Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. 雑誌 Am J Hum Genet 71:618-24 (2002) DOI:10.1086/342067 |