KEGG   DISEASE: BRENS 症候群
エントリ  
H02547                                                             
名称    
BRENS 症候群
概要    
Biliary, renal, neurologic, and skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene, that encodes a ciliary protein.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02547  BRENS 症候群
病因遺伝子 
TTC26 [HSA:79989] [KO:K19685]
リンク   
ICD-11: LD2F.Y
OMIM: 619534
文献    
PMID:34177428
  著者
Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M
  タイトル
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
  雑誌
Mol Syndromol 12:133-140 (2021)
DOI:10.1159/000513829
文献    
PMID:24596149
  著者
Ishikawa H, Ide T, Yagi T, Jiang X, Hirono M, Sasaki H, Yanagisawa H, Wemmer KA, Stainier DY, Qin H, Kamiya R, Marshall WF
  タイトル
TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.
  雑誌
Elife 3:e01566 (2014)
DOI:10.7554/eLife.01566
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