| H00573 | |
| H番号 | H00573 |
| 名称 | Townes-Brocks 症候群 |
| 概要 | Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal thumbs, imperforate anus and renal malformations. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (TBS1) SALL1 [HSA:6299] [KO:K19871] (TBS2) DACT1 [HSA:51339] [KO:K22154] |
| 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: C536974 OMIM: 107480 617466 |
| 文献 | PMID:10051003 著者 Powell CM, Michaelis RC タイトル Townes-Brocks syndrome. 雑誌 J Med Genet 36:89-93 (1999) DOI:10.1136/jmg.36.2.89 PMID:11478532 (SALL1) 著者 Keegan CE, Mulliken JB, Wu BL, Korf BR タイトル Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. 雑誌 Genet Med 3:310-3 (2001) DOI:10.1097/00125817-200107000-00007 PMID:28054444 (DACT1) 著者 Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE タイトル Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. 雑誌 Hum Mutat 38:373-377 (2017) DOI:10.1002/humu.23171 |