KEGG   DISEASE: HARP 症候群
エントリ  
H02209                                                             
名称    
HARP 症候群
  上位グループ
パントテン酸キナーゼ関連神経変性症 [DS:H02208]
中核群神経有棘赤血球症 [DS:H00832]
脳の鉄沈着を伴う神経変性疾患 [DS:H00833]
概要    
HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent pre-beta lipoproteins consisting of very-low-density lipoproteins (VLDL).
カテゴリ  
神経系疾患
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
   代謝物質の吸収または輸送の疾患
    5C64  ミネラルの吸収または輸送の疾患
     H02209  HARP 症候群
パスウェイ 
hsa00770  Pantothenate and CoA biosynthesis
病因遺伝子 
PANK2 [HSA:80025] [KO:K09680]
リンク   
ICD-11: 5C64.10
MeSH: C564603
OMIM: 607236
文献    
  著者
Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ
  タイトル
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
  雑誌
Neurology 58:1673-4 (2002)
DOI:10.1212/WNL.58.11.1673
文献    
  著者
Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW
  タイトル
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
  雑誌
Neurology 61:1423-6 (2003)
DOI:10.1212/01.WNL.0000094120.09977.92
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