KEGG   DISEASE: 甲状腺ホルモン代謝異常症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   甲状腺または甲状腺ホルモン系の疾患
    5A00  甲状腺機能低下症
     H01186  甲状腺ホルモン代謝異常症
パスウェイ 
hsa04919  Thyroid hormone signaling pathway
病因遺伝子 
(THMA1) SECISBP2 [HSA:79048] [KO:K19539]
(THMA2) DIO1 [HSA:1733] [KO:K01562]
リンク   
ICD-11: 5A00.0
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
文献    
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
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