KEGG   DISEASE: Pallister-Hall 症候群
エントリ  
H00502                                                             
名称    
Pallister-Hall 症候群
概要    
Pallister-Hall syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused by GLI3 mutations.
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
    H00502  Pallister-Hall 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06501  HH シグナリング
   H00502  Pallister-Hall 症候群
パスウェイ 
hsa04340  Hedgehog signaling pathway
hsa04024  cAMP signaling pathway
ネットワーク
nt06501 HH signaling
病因遺伝子 
GLI3 [HSA:2737] [KO:K06230]
リンク   
ICD-11: LD2F.1Y
ICD-10: D33.0
MeSH: D054975
OMIM: 146510
文献    
  著者
Biesecker LG
  タイトル
Pallister-Hall Syndrome
  雑誌
GeneReviews (1993)
文献    
  著者
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
  タイトル
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
  雑誌
Am J Hum Genet 76:609-22 (2005)
DOI:10.1086/429346
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