KEGG   DISEASE: イェンセン症候群
エントリ  
H01201                                                             
名称    
イェンセン症候群
概要    
Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia peptide (TIMM8a) gene.
カテゴリ  
先天性代謝異常症, ミトコンドリア病
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
  代謝疾患
   先天性代謝異常
    5C53  エネルギー代謝の先天性異常
     H01201  イェンセン症候群
病因遺伝子 
TIMM8A [HSA:1678] [KO:K17780]
コメント  
Mohr-Tranebjaerg syndrome [DS:H00989] is also caused by defects in TIMM8A.
リンク   
ICD-11: 5C53.2Y
MeSH: C537568
OMIM: 311150
文献    
PMID:11803487
  著者
Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K
  タイトル
Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
  雑誌
Ophthalmic Genet 22:207-23 (2001)
DOI:10.1076/opge.22.4.207.2220
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