KEGG   DISEASE: アンジェルマン症候群
エントリ  
H01732                                                             
名称    
アンジェルマン症候群
概要    
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13, causes AS. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia.
カテゴリ  
染色体異常
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H01732  アンジェルマン症候群
指定難病 [jp08407.html]
 H01732
パスウェイ 
hsa04120  Ubiquitin mediated proteolysis
病因遺伝子 
UBE3A [HSA:7337] [KO:K10587]
コメント  
See also H00478 Prader-Willi syndrome (PWS).
リンク   
ICD-11: LD90.0
ICD-10: Q93.5
MeSH: D017204
OMIM: 105830
文献    
  著者
Cassidy SB, Dykens E, Williams CA
  タイトル
Prader-Willi and Angelman syndromes: sister imprinted disorders.
  雑誌
文献    
  著者
Mabb AM, Judson MC, Zylka MJ, Philpot BD
  タイトル
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
  雑誌
Trends Neurosci 34:293-303 (2011)
DOI:10.1016/j.tins.2011.04.001
文献    
  著者
Horsthemke B, Wagstaff J
  タイトル
Mechanisms of imprinting of the Prader-Willi/Angelman region.
  雑誌
Am J Med Genet A 146A:2041-52 (2008)
DOI:10.1002/ajmg.a.32364
文献    
  著者
Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME
  タイトル
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
  雑誌
Cell 140:704-16 (2010)
DOI:10.1016/j.cell.2010.01.026
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