| H00251 | |
| H番号 | H00251 |
| 名称 | 甲状腺内分泌不全症; 内分泌不全性甲状腺腫 |
| 概要 | Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects in the synthesis of thyroid hormones. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06322 TRH-TSH-TH signaling |
| 病因遺伝子 | (TDH1) SLC5A5 [HSA:6528] [KO:K14385] (TDH2A) TPO [HSA:7173] [KO:K00431] (TDH2B) SLC26A4 [HSA:5172] [KO:K14702] (TDH2B) FOXI1 [HSA:2299] [KO:K09401] (TDH3) TG [HSA:7038] [KO:K10809] (TDH4) IYD [HSA:389434] [KO:K17231] (TDH5) DUOXA2 [HSA:405753] [KO:K17232] (TDH6) DUOX2 [HSA:50506] [KO:K13411] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A00.00 ICD-10: E07.1 MeSH: C564766 C563206 C536648 C562769 C562770 C562771 C564608 OMIM: 274400 274500 274600 274700 274800 274900 607200 |
| 文献 | PMID:17468186 著者 Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T タイトル High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. 雑誌 Eur J Endocrinol 156:511-9 (2007) DOI:10.1530/EJE-07-0037 PMID:16424561 著者 Kumar PG, Anand SS, Sood V, Kotwal N タイトル Thyroid dyshormonogenesis. 雑誌 Indian Pediatr 42:1233-5 (2005) PMID:15863666 著者 Park SM, Chatterjee VK タイトル Genetics of congenital hypothyroidism. 雑誌 J Med Genet 42:379-89 (2005) DOI:10.1136/jmg.2004.024158 PMID:9171822 (TDH1) 著者 Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N タイトル Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 雑誌 Nat Genet 16:124-5 (1997) DOI:10.1038/ng0697-124 PMID:1401057 (TDH2A) 著者 Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G タイトル Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. 雑誌 J Clin Invest 90:1200-4 (1992) DOI:10.1172/JCI115981 PMID:17503324 (TDH2B) 著者 Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ タイトル Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 雑誌 Am J Hum Genet 80:1055-63 (2007) DOI:10.1086/518314 PMID:1752952 (TDH3) 著者 Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G タイトル A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. 雑誌 J Clin Invest 88:1901-5 (1991) DOI:10.1172/JCI115513 PMID:18434651 (TDH4) 著者 Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Leger A, Goudie D, Polak M, Gruters A, Visser TJ タイトル Mutations in the iodotyrosine deiodinase gene and hypothyroidism. 雑誌 N Engl J Med 358:1811-8 (2008) DOI:10.1056/NEJMoa0706819 PMID:18042646 (TDH5) 著者 Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G タイトル Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. 雑誌 J Clin Endocrinol Metab 93:605-10 (2008) DOI:10.1210/jc.2007-2020 PMID:12110737 (TDH6) 著者 Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C タイトル Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 雑誌 N Engl J Med 347:95-102 (2002) DOI:10.1056/NEJMoa012752 |