KEGG   DISEASE: 中核群神経有棘赤血球症
エントリ  
H00832                                                             
名称    
中核群神経有棘赤血球症
  下位グループ
有棘赤血球を伴う舞踏病 (ChAc) [DS:H01432]
マクラウド症候群 (MLS) [DS:H00655]
ハンチントン病類縁疾患 2 型 (HDL2) [DS:H01243]
パントテン酸キナーゼ関連神経変性症 (PKAN) [DS:H02208]
概要    
Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  貧血または他の赤血球系疾患
   溶血性貧血
    先天性溶血性貧血
     3A10  遺伝性溶血性貧血
      H00832  中核群神経有棘赤血球症
 08 神経系の疾患
  運動障害
   8A01  舞踏病様障害
    H00832  中核群神経有棘赤血球症
指定難病 [jp08407.html]
 H00832
パスウェイ 
hsa00770  Pantothenate and CoA biosynthesis
病因遺伝子 
(CHAC) VPS13A [HSA:23230] [KO:K19525]
(MLS) XK [HSA:7504] [KO:K19522]
(HDL2) JPH3 [HSA:57338] [KO:K19530]
(PKAN) PANK2 [HSA:80025] [KO:K09680]
コメント  
McLeod syndrome is described in [HD:H00655].
Chorea-acanthocytosis is described in [HD:H01432].
PKAN is allelic with HARP syndrome.
リンク   
ICD-11: 3A10.Y 8A01.1Y
文献    
  著者
Jung HH, Danek A, Walker RH
  タイトル
Neuroacanthocytosis syndromes.
  雑誌
Orphanet J Rare Dis 6:68 (2011)
DOI:10.1186/1750-1172-6-68
文献    
  著者
Ichiba M, Nakamura M, Sano A
  タイトル
[Neuroacanthocytosis update].
  雑誌
Brain Nerve 60:635-41 (2008)
DOI:10.11477/mf.1416100292
LinkDB    

» English version

DBGET integrated database retrieval system