KEGG   DISEASE: 家族性低βリポタンパク血症
エントリ  
H01270                                                             
名称    
家族性低βリポタンパク血症
概要    
Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease.
カテゴリ  
先天性代謝異常症
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
   リポタンパク質代謝疾患または脂質血症
    5C81  低リポタンパク血症
     H01270  家族性低βリポタンパク血症
指定難病 [jp08407.html]
 H01270
パスウェイ 
hsa04979  Cholesterol metabolism
hsa04977  Vitamin digestion and absorption
hsa04975  Fat digestion and absorption
病因遺伝子 
(FHBL1) APOB [HSA:338] [KO:K14462]
(FHBL2) ANGPTL3 [HSA:27329] [KO:K22288]
リンク   
ICD-11: 5C81.1
MeSH: D006995
OMIM: 615558 605019
文献    
PMID:12551903 (FHBL1)
  著者
Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z
  タイトル
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
  雑誌
J Biol Chem 278:13442-52 (2003)
DOI:10.1074/jbc.M300235200
文献    
PMID:20942659 (FHBL2)
  著者
Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S
  タイトル
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
  雑誌
N Engl J Med 363:2220-7 (2010)
DOI:10.1056/NEJMoa1002926
LinkDB    

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