KEGG   DISEASE: 甲状腺内分泌不全症
エントリ  
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  
内分泌系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 内分泌代謝疾患
  甲状腺疾患
   H00251  甲状腺内分泌不全症
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
     H00251  甲状腺内分泌不全症
パスウェイ 
hsa00350  Tyrosine metabolism
hsa04918  Thyroid hormone synthesis
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]
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    
  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
文献    
  著者
Kumar PG, Anand SS, Sood V, Kotwal N
  タイトル
Thyroid dyshormonogenesis.
  雑誌
Indian Pediatr 42:1233-5 (2005)
文献    
  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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
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