KEGG   DISEASE: 軟骨無発生症 IB 型
エントリ  
H02065                                                             
名称    
軟骨無発生症 IB 型;
Fraccaro 型軟骨無発生症
概要    
Achondrogenesis type IB (ACG-IB) is an autosomal recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier family 26 sulphate transporter, member 2 gene (SLC26A2).
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
    H02065  軟骨無発生症 IB 型
病因遺伝子 
SLC26A2 [HSA:1836] [KO:K14701]
リンク   
ICD-11: LD24.50
MeSH: C536019
OMIM: 600972
文献    
PMID:11570921
  著者
Corsi A, Riminucci M, Fisher LW, Bianco P
  タイトル
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
  雑誌
Arch Pathol Lab Med 125:1375-8 (2001)
DOI:10.1043/0003-9985(2001)125<1375:ATI>2.0.CO;2
文献    
PMID:8528239
  著者
Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R
  タイトル
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
  雑誌
Nat Genet 12:100-2 (1996)
DOI:10.1038/ng0196-100
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