| H00446 | |
| H番号 | H00446 |
| 名称 | Craniofacial-deafness-hand 症候群 |
| 概要 | Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant or X-linked mutation characterized by a flat facial profile, hypoplastic nose, and a sensorineural hearing loss. A missense mutation in the PAX3 has been detected in patients with the disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PAX3 [HSA:5077] [KO:K09381] |
| 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: C536453 OMIM: 122880 |
| 文献 | PMID:14556253 著者 Sommer A, Bartholomew DW タイトル Craniofacial-deafness-hand syndrome revisited. 雑誌 Am J Med Genet A 123A:91-4 (2003) DOI:10.1002/ajmg.a.20501 PMID:8664898 著者 Asher JH Jr, Sommer A, Morell R, Friedman TB タイトル Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. 雑誌 Hum Mutat 7:30-5 (1996) DOI:10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T PMID:6859126 著者 Sommer A, Young-Wee T, Frye T タイトル Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. 雑誌 Am J Med Genet 15:71-7 (1983) DOI:10.1002/ajmg.1320150109 |