KEGG   DISEASE: Tietz 症候群
エントリ  
H01187                                                             
名称    
Tietz 症候群;
白皮症・難聴症候群
概要    
Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2) [DS:H00169], which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.
カテゴリ  
皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC23  皮膚色素沈着の遺伝性疾患
    H01187  Tietz 症候群
パスウェイ 
hsa04137  Mitophagy - animal
hsa04380  Osteoclast differentiation
hsa04916  Melanogenesis
病因遺伝子 
MITF [HSA:4286] [KO:K09455]
リンク   
ICD-11: EC23.2Y
MeSH: C536919
OMIM: 103500
文献    
  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    
  著者
Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S
  タイトル
The syndrome of inherited partial SBP2 deficiency in humans.
  雑誌
Antioxid Redox Signal 12:905-20 (2010)
DOI:10.1089/ars.2009.2892
文献    
  著者
Smith SD, Kelley PM, Kenyon JB, Hoover D
  タイトル
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
  雑誌
J Med Genet 37:446-8 (2000)
DOI:10.1136/jmg.37.6.446
文献    
PMID:9546825
  著者
Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM
  タイトル
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
  雑誌
Clin Dysmorphol 7:17-20 (1998)
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