| H00860 | |
| H番号 | H00860 |
| 名称 | 良性遺伝性舞踏病 |
| 概要 | Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination findings. Mutations in the TTF1 gene encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1, belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | TTF1 [HSA:7270] [KO:K15225] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A01.0 ICD-10: G25.5 MeSH: D002819 OMIM: 118700 |
| 文献 | PMID:19501334 著者 Gilbert DL タイトル Acute and chronic chorea in childhood. 雑誌 Semin Pediatr Neurol 16:71-6 (2009) DOI:10.1016/j.spen.2009.03.009 PMID:21292530 著者 Inzelberg R, Weinberger M, Gak E タイトル Benign hereditary chorea: an update. 雑誌 Parkinsonism Relat Disord 17:301-7 (2011) DOI:10.1016/j.parkreldis.2011.01.002 |