KEGG   DISEASE: 脳の異常・神経変性および異骨性骨硬化症
エントリ  
H03015                                                             
名称    
脳の異常・神経変性および異骨性骨硬化症
概要    
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is a novel disease characterized by leukoencephalopathy, brain malformations and skeletal dysplasia compatible with dysosteosclerosis. It has been reported that bi-allelic mutations in CSF1R cause BANDDOS. CSF1R encodes colony-stimulating factor 1 receptor that plays key roles in the development and function of the cells in the monocyte/ macrophage lineage, including microglia and osteoclasts. It is known that mono-allelic mutations of CSF1R cause hereditary diffuse leukoencephalopathy (HDLS) [DS:H01807], an adult-onset progressive neurodegenerative disorder.
カテゴリ  
先天奇形
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H03015  脳の異常・神経変性および異骨性骨硬化症
病因遺伝子 
CSF1R [HSA:1436] [KO:K05090]
リンク   
ICD-11: LD2F.Y
OMIM: 618476
文献    
PMID:15312244
  著者
Dai XM, Zong XH, Akhter MP, Stanley ER
  タイトル
Osteoclast deficiency results in disorganized matrix, reduced mineralization, and abnormal osteoblast behavior in developing bone.
  雑誌
J Bone Miner Res 19:1441-51 (2004)
DOI:10.1359/JBMR.040514
文献    
PMID:30982609
  著者
Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S
  タイトル
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
  雑誌
Am J Hum Genet 104:925-935 (2019)
DOI:10.1016/j.ajhg.2019.03.004
文献    
PMID:34135456
  著者
Guo L, Ikegawa S
  タイトル
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
  雑誌
J Hum Genet 66:1139-1144 (2021)
DOI:10.1038/s10038-021-00942-w
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