KEGG   DISEASE: 常染色体劣性遺伝性高コレステロール血症
エントリ  
H01918                                                             

名称    
常染色体劣性遺伝性高コレステロール血症
  上位グループ
脂質異常症 [DS:H01635]
概要    
Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias have been identified which lead to severe primary hypercholesterolemia. Among them, ARH is characterized by clinical symptoms and plasma cholesterol levels intermediate between those found in heterozygous and homozygous familial hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors accumulate on the cell membrane. In general, ARH patients show a better response to lipid-lowering therapy than the FH patients, and they rarely require LDL apheresis.
カテゴリ  
先天代謝異常症; 循環器疾患
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  先天性脂質・糖脂質代謝異常症
   H01918  常染色体劣性遺伝性高コレステロール血症
ICD-11 による疾患分類 [BR:jp08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C80  Hyperlipoproteinaemia
     H01918  常染色体劣性遺伝性高コレステロール血症
パスウェイ 
hsa04144  エンドサイトーシス
ネットワーク
nt06320  APOB-LDLR signaling
  エレメント
N00335  Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins
病因遺伝子 
LDLRAP1 [HSA:26119] [KO:K12474]
リンク   
ICD-11: 5C80.00
ICD-10: E78.0
OMIM: 603813
文献    
  著者
Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vazquez A, Ordonez-Sanchez ML, Rodriguez-Torres M, Venturas-Gallegos JL, Riba L, Ramirez-Jimenez S, Salas-Montiel R, Medina-Palacios G, Robles-Osorio L, Miliar-Garcia A, Rosales-Leon L, Ruiz-Ordaz BH, Zentella-Dehesa A, Ferre-D'Amare A, Gomez-Perez FJ, Tusie-Luna MT
  タイトル
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
  雑誌
Hum Genet 116:114-20 (2005)
DOI:10.1007/s00439-004-1192-9
文献    
  著者
Fahed AC, Nemer GM
  タイトル
Familial hypercholesterolemia: the lipids or the genes?
  雑誌
Nutr Metab (Lond) 8:23 (2011)
DOI:10.1186/1743-7075-8-23
文献    
  著者
Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH
  タイトル
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
  雑誌
Science 292:1394-8 (2001)
DOI:10.1126/science.1060458

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