KEGG   DISEASE: Oculomotor-abducens synkinesis
エントリ  
H02814                                                             
名称    
Oculomotor-abducens synkinesis
概要    
Oculomotor-abducens synkinesis (OCABSN) is the involuntary movement of the eyes or eyelids  with a voluntary attempt at another eye or facial movement. It has been reported that mutations in ACKR3 cause this disease. The chemokine receptor CXCR4 and its ligand CXCL12 regulate oculomotor nerve development. ACKR3 encodes an atypical chemokine receptor that binds CXCL12 and functions as a scavenger receptor, regulating levels of CXCL12 available for CXCR4 signaling.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  斜視または眼球運動障害
   9C81  動眼神経麻痺
    H02814  Oculomotor-abducens synkinesis
病因遺伝子 
ACKR3 [HSA:57007] [KO:K04304]
リンク   
ICD-11: 9C81.Y
OMIM: 619215
文献    
  著者
Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC
  タイトル
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
  雑誌
Hum Mol Genet 28:3113-3125 (2019)
DOI:10.1093/hmg/ddz137
文献    
  著者
Whitman MC, Nguyen EH, Bell JL, Tenney AP, Gelber A, Engle EC
  タイトル
Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis.
  雑誌
Invest Ophthalmol Vis Sci 59:5201-5209 (2018)
DOI:10.1167/iovs.18-25190
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