KEGG   DISEASE: 血管型出血性疾患
エントリ  
H02749                                                             
名称    
血管型出血性疾患
概要    
Bleeding disorder vascular-type (BDVAS) is a novel autosomal dominant disorder associated with episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered platelet function. It has been reported that mutations in APOLD1 cause this disease. APOLD1 encodes apolipoprotein L domain-containing 1, which was recently identified as an endothelial cell early response protein induced after ischemia and expected to regulate endothelial cell signaling and vascular function.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  凝固障害, 紫斑病またはその他の出血性または関連病状
   3B6Y  その他の明示された凝固障害, 紫斑病またはその他の出血性または関連病状
    H02749  血管型出血性疾患
病因遺伝子 
APOLD1 [HSA:81575] [KO:K28078]
リンク   
ICD-11: 3B6Y
OMIM: 620715
文献    
  著者
Stritt S, Nurden P, Nurden AT, Schved JF, Bordet JC, Roux M, Alessi MC, Tregouet DA, Makinen T, Giansily-Blaizot M
  タイトル
APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
  雑誌
Haematologica 108:772-784 (2023)
DOI:10.3324/haematol.2022.280816
文献    
  著者
Freson K
  タイトル
Loss of APOLD1: a new vascular bleeding disorder?
  雑誌
Haematologica 108:665-667 (2023)
DOI:10.3324/haematol.2022.281354
LinkDB    

» English version

DBGET integrated database retrieval system