KEGG   DISEASE: Al-Awadi/Raas-Rothschild 症候群
エントリ  
H00847                                                             
名称    
Al-Awadi/Raas-Rothschild 症候群
概要    
Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome.
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
   LD26  主な特徴として肢の異常を伴う症候群
    H00847  Al-Awadi/Raas-Rothschild 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06505  WNT シグナリング
   H00847  Al-Awadi/Raas-Rothschild 症候群
パスウェイ 
hsa04310  Wnt signaling pathway
ネットワーク
nt06505 WNT signaling
病因遺伝子 
WNT7A [HSA:7476] [KO:K00572]
リンク   
ICD-11: LD26.Y
MeSH: C535612
OMIM: 276820
文献    
PMID:8423611
  著者
Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S
  タイトル
Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
  雑誌
J Med Genet 30:65-9 (1993)
DOI:10.1136/jmg.30.1.65
文献    
PMID:16826533
  著者
Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
  タイトル
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
  雑誌
Am J Hum Genet 79:402-8 (2006)
DOI:10.1086/506332
文献    
PMID:21271649
  著者
Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A
  タイトル
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
  雑誌
Am J Med Genet A 155A:332-6 (2011)
DOI:10.1002/ajmg.a.33793
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