KEGG   DISEASE: 家族性多結節性甲状腺腫
エントリ  
H02737                                                             
名称    
家族性多結節性甲状腺腫
  下位グループ
セルトリ・ライディッヒ細胞腫を伴う(伴わない)多結節性甲状腺腫 (MNG1)
概要    
Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland. As opposed to toxic MNG, the non-toxic subtype does not result from an inflammatory or neoplastic process. Genetic defects may play a major role in the pathogenesis of familial non-toxic MNG. Some loci have been linked to familial MNG. Germline mutations in DICER1 have been identified as the cause of familial MNG with or without ovarian Sertoli-Leydig cell tumor. DICER1, a member of the RNaseIII family, is involved in the generation of microRNAs, that modulate gene expression at the posttranscriptional level.
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
    5A01  非中毒性甲状腺腫
     H02737  家族性多結節性甲状腺腫
病因遺伝子 
(MNG1) DICER1 [HSA:23405] [KO:K11592]
リンク   
ICD-11: 5A01.2
MeSH: C562732
OMIM: 138800
文献    
  著者
Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M
  タイトル
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
  雑誌
JAMA 305:68-77 (2011)
DOI:10.1001/jama.2010.1910
文献    
  著者
Apellaniz-Ruiz M, de Kock L, Sabbaghian N, Guaraldi F, Ghizzoni L, Beccuti G, Foulkes WD
  タイトル
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.
  雑誌
Eur J Endocrinol 178:K11-K19 (2018)
DOI:10.1530/EJE-17-0904
文献    
  著者
Takahashi T, Nozaki J, Komatsu M, Wada Y, Utsunomiya M, Inoue K, Takada G, Koizumi A
  タイトル
A new locus for a dominant form of multinodular goiter on 3q26.1-q26.3.
  雑誌
Biochem Biophys Res Commun 284:650-4 (2001)
DOI:10.1006/bbrc.2001.4998
文献    
  著者
Capon F, Tacconelli A, Giardina E, Sciacchitano S, Bruno R, Tassi V, Trischitta V, Filetti S, Dallapiccola B, Novelli G
  タイトル
Mapping a dominant form of multinodular goiter to chromosome Xp22.
  雑誌
Am J Hum Genet 67:1004-7 (2000)
DOI:10.1086/303095
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