KEGG   DISEASE: McLeod 症候群
エントリ  
H00655                                                             
名称    
McLeod 症候群
  上位グループ
中核群神経有棘赤血球症 [DS:H00832]
概要    
McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late onset abnormalities in the neuromuscular and hematopoietic systems. Mild myopathy is a common manifestation in most cases. Patients often present with mild, asymptomatic hyperCKemia. The absence of the membrane transport protein XK seems to be causative.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  運動障害
   8A01  舞踏病様障害
    H00655  McLeod 症候群
病因遺伝子 
(MCLDS) XK [HSA:7504] [KO:K19522]
リンク   
ICD-11: 8A01.1Y
MeSH: C564038
OMIM: 300842
文献    
  著者
Finsterer J, Stollberger C
  タイトル
Primary myopathies and the heart.
  雑誌
Scand Cardiovasc J 42:9-24 (2008)
DOI:10.1080/14017430701854953
文献    
PMID:8004674
  著者
Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP
  タイトル
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.
  雑誌
Cell 77:869-80 (1994)
DOI:10.1016/0092-8674(94)90136-8
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