KEGG   DISEASE: 軟骨無発生症 IA 型
エントリ  
H00678                                                             
名称    
軟骨無発生症 IA 型;
Houston-Harris 型軟骨無発生症
概要    
Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus.
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
   LD24  主な特徴として骨格の異常を伴う症候群
    H00678  軟骨無発生症 IA 型
病因遺伝子 
TRIP11 [HSA:9321] [KO:K23368]
リンク   
ICD-11: LD24.50
MeSH: C536015
OMIM: 200600
文献    
PMID:20089978
  著者
Freeze HH
  タイトル
Achondrogenesis type 1A--from mouse to human.
  雑誌
N Engl J Med 362:266-7 (2010)
DOI:10.1056/NEJMe0911455
文献    
PMID:20089971
  著者
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafe L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR
  タイトル
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
  雑誌
N Engl J Med 362:206-16 (2010)
DOI:10.1056/NEJMoa0900158
文献    
PMID:17638425
  著者
Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pohls U, Stoss H, Rauch A, Thiel CT
  タイトル
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.
  雑誌
Pediatr Dev Pathol 10:328-34 (2007)
DOI:10.2350/06-07-0134.1
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