KEGG   DISEASE: ヤング・シンプソン症候群
エントリ  
H01793                                                             
名称    
ヤング・シンプソン症候群
  上位グループ
眼瞼裂狭小・精神遅滞症候群 [DS:H01795]
概要    
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. In 1986, Ohdo described two siblings and their cousin with blepharophimosis, ptosis, congenital heart defects, intellectual disability, and hypoplastic teeth. Subsequently, the Young-Simpson syndrome was described. Later the Young-Simpson syndrome was renamed the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. SBBYSS and genitopatellar syndrome (GPS) [DS:H01794] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders.
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
    H01793  ヤング・シンプソン症候群
指定難病 [jp08407.html]
 H01793
病因遺伝子 
KAT6B [HSA:23522] [KO:K11306]
リンク   
ICD-11: LD2F.1Y
ICD-10: Q87.8
OMIM: 603736
文献    
PMID:23236640
  著者
Campeau PM, Lee BH
  タイトル
KAT6B-Related Disorders
  雑誌
GeneReviews (1993)
文献    
PMID:22715153
  著者
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH
  タイトル
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
  雑誌
Hum Mutat 33:1520-5 (2012)
DOI:10.1002/humu.22141
文献    
PMID:27452416
  著者
Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T
  タイトル
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
  雑誌
Clin Genet 91:339-343 (2017)
DOI:10.1111/cge.12840
文献    
PMID:25424711
  著者
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destree A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, Smith J, Clayton-Smith J
  タイトル
Further delineation of the KAT6B molecular and phenotypic spectrum.
  雑誌
Eur J Hum Genet 23:1165-70 (2015)
DOI:10.1038/ejhg.2014.248
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