| H01186 | |
| H番号 | H01186 |
| 名称 | 甲状腺ホルモン代謝異常症 |
| 概要 | Abnormal thyroid hormone metabolism (THMA) is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic to selenoprotein synthesis, these defects have a generalized effect on selenoproteins. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | (THMA1) SECISBP2 [HSA:79048] [KO:K19539] (THMA2) DIO1 [HSA:1733] [KO:K01562] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A00.0 ICD-10: E03.8 MeSH: C566454 OMIM: 619855 609698 |
| 文献 | PMID:16228000 (SECISBP2) 著者 Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S タイトル Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 雑誌 Nat Genet 37:1247-52 (2005) DOI:10.1038/ng1654 PMID:32718224 (DIO1) 著者 Franca MM, German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM タイトル Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. 雑誌 Thyroid 31:202-207 (2021) DOI:10.1089/thy.2020.0253 |