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KEGG   DISEASE: Meester-Loeys 症候群
エントリ  
H02720                                                             
名称    
Meester-Loeys 症候群
  上位グループ
家族性胸部大動脈瘤及び解離 [DS:H00801]
概要    
Meester-Loeys syndrome (MRLS) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome. In addition to the aorta, aneurysms in the brain, pulmonary artery, and ductus arteriosus have been described. The disease is caused by loss-of-function mutations in the biglycan gene (BGN). Biglycan is a small leucine-rich class I proteoglycan involved in the maintenance and assembly of the extracellular matrix (ECM).
カテゴリ  
循環器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD28  主な特徴として結合組織の異常を伴う症候群
    H02720  Meester-Loeys 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H02720  Meester-Loeys 症候群
パスウェイ 
hsa04820 Cytoskeleton in muscle cells   
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
BGN [HSA:633] [KO:K08118]
リンク   
ICD-11: LD28.0Y
ICD-10: I71.1
OMIM: 300989
文献    
  著者
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL
  タイトル
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
  雑誌
NPJ Genom Med 9:22 (2024)
DOI:10.1038/s41525-024-00413-z

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