| H00913 | |
| H number | H00913 |
| Name | Brain-lung-thyroid syndrome; Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| Description | 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. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | NKX2-1 [HSA:7080] [KO:K09342] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: CB04.5 ICD-10: E03.1 MeSH: C567034 OMIM: 610978 |
| Reference | PMID:15289765 AUTHORS Doyle DA, Gonzalez I, Thomas B, Scavina M TITLE Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. JOURNAL J Pediatr 145:190-3 (2004) DOI:10.1016/j.jpeds.2004.04.011 PMID:12566717 AUTHORS Gruters A, Biebermann H, Krude H TITLE Neonatal thyroid disorders. JOURNAL Horm Res 59 Suppl 1:24-9 (2003) DOI:10.1159/000067841 PMID:18788921 AUTHORS 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 TITLE A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. JOURNAL Thyroid 18:1005-9 (2008) DOI:10.1089/thy.2008.0085 |