| H00913 | |
| H番号 | H00913 |
| 名称 | Brain-lung-thyroid 症候群; Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| 概要 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing thyroid, respiratory epithelium, and specific areas of the forebrain during embryogenesis. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | NKX2-1 [HSA:7080] [KO:K09342] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: CB04.5 ICD-10: E03.1 MeSH: C567034 OMIM: 610978 |
| 文献 | PMID:15289765 著者 Doyle DA, Gonzalez I, Thomas B, Scavina M タイトル Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 雑誌 J Pediatr 145:190-3 (2004) DOI:10.1016/j.jpeds.2004.04.011 PMID:12566717 著者 Gruters A, Biebermann H, Krude H タイトル Neonatal thyroid disorders. 雑誌 Horm Res 59 Suppl 1:24-9 (2003) DOI:10.1159/000067841 PMID:18788921 著者 Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE タイトル A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 雑誌 Thyroid 18:1005-9 (2008) DOI:10.1089/thy.2008.0085 |