KEGG   DISEASE: 網膜色素変性・感音性難聴および脱髄性末梢神経障害を伴う小児期早期発症神経変性疾患
エントリ  
H02925                                                             
名称    
網膜色素変性・感音性難聴および脱髄性末梢神経障害を伴う小児期早期発症神経変性疾患
概要    
Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (CONDRHN) is a novel autosomal recessive neurodegenerative disease. It has been reported that mutations in KLC4 cause this disease. KLC4 encodes the kinesin light chain 4 protein, the founding member of the kinesin superfamily of motor proteins. It is suggested that KLC4 is an essential regulator of axon branching and arborization pattern of sensory neurons during development.
カテゴリ  
神経系疾患
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
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02925  網膜色素変性・感音性難聴および脱髄性末梢神経障害を伴う小児期早期発症神経変性疾患
病因遺伝子 
KLC4 [HSA:89953] [KO:K10407]
リンク   
ICD-11: LD20.Y
OMIM: 621129
文献    
PMID:26423925
  著者
Bayrakli F, Poyrazoglu HG, Yuksel S, Yakicier C, Erguner B, Sagiroglu MS, Yuceturk B, Ozer B, Doganay S, Tanrikulu B, Seker A, Akbulut F, Ozen A, Per H, Kumandas S, Altuner Torun Y, Bayri Y, Sakar M, Dagcinar A, Ziyal I
  タイトル
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
  雑誌
J Hum Genet 60:763-8 (2015)
DOI:10.1038/jhg.2015.109
文献    
PMID:36222498
  著者
Haynes EM, Burnett KH, He J, Jean-Pierre MW, Jarzyna M, Eliceiri KW, Huisken J, Halloran MC
  タイトル
KLC4 shapes axon arbors during development and mediates adult behavior.
  雑誌
Elife 11:74270 (2022)
DOI:10.7554/eLife.74270
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