KEGG   DISEASE: 家族性関節軟骨石灰化症
エントリ  
H01236                                                             
名称    
家族性関節軟骨石灰化症
概要    
Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2). It has been suggested that mutations in the ANKH gene, which is located on the chromosome 5p, are one cause of chondrocalcinosis.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  関節症
   炎症性関節症
    FA26  明示された結晶性関節症
     H01236  家族性関節軟骨石灰化症
病因遺伝子 
ANKH [HSA:56172] [KO:K22734]
リンク   
ICD-11: FA26.2
ICD-10: M11.1
MeSH: C563162
OMIM: 118600
文献    
  著者
Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM
  タイトル
Mutations in ANKH cause chondrocalcinosis.
  雑誌
Am J Hum Genet 71:933-40 (2002)
DOI:10.1086/343054
LinkDB    

» English version

DBGET integrated database retrieval system