KEGG   DISEASE: プラダー・ウィリー症候群
エントリ  
H00478                                                             
名称    
プラダー・ウィリー症候群
  下位グループ
Schaaf-Yang 症候群 [DS:H02325]
  上位グループ
男子性腺機能不全症 [DS:H02027]
概要    
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency.
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
   H00478  プラダー・ウィリー症候群
指定難病 [jp08407.html]
 H00478
病因遺伝子 
NDN [HSA:4692] [KO:K19482]
SNRPN [HSA:6638] [KO:K11100]
NPAP1 [HSA:23742] [KO:K26564]
治療薬   
ソマトロピン [DR:D02691]
コメント  
See also H01732 Angelman syndrome (AS).
リンク   
ICD-11: LD90.3
ICD-10: Q87.1
MeSH: D011218
OMIM: 176270
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
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    
PMID:18930956 (NDN)
  著者
Miller NL, Wevrick R, Mellon PL
  タイトル
Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.
  雑誌
Hum Mol Genet 18:248-60 (2009)
DOI:10.1093/hmg/ddn344
文献    
PMID:9915945 (SNRPN)
  著者
Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA
  タイトル
Prader-Willi syndrome is caused by disruption of the SNRPN gene.
  雑誌
Am J Hum Genet 64:70-6 (1999)
DOI:10.1086/302177
文献    
PMID:24482533 (NPAP1)
  著者
Neumann LC, Feiner N, Meyer A, Buiting K, Horsthemke B
  タイトル
The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.
  雑誌
Genome Biol Evol 6:344-51 (2014)
DOI:10.1093/gbe/evu019
LinkDB    

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