KEGG   DISEASE: 肺胞微石症
エントリ  
H01298                                                             
名称    
肺胞微石症
概要    
Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported cases are familial. It has been suggested that mutations in SLC34A2 cause this disease.
カテゴリ  
呼吸器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 12 呼吸器系の疾患
  主として肺の間質に影響する呼吸器疾患
   CB06  肺胞微石症
    H01298  肺胞微石症
病因遺伝子 
SLC34A2 [HSA:10568] [KO:K14683]
リンク   
ICD-11: CB06
OMIM: 265100
文献    
  著者
Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A
  タイトル
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.
  雑誌
Am J Hum Genet 79:650-6 (2006)
DOI:10.1086/508263
LinkDB    

» English version

DBGET integrated database retrieval system