KEGG   DISEASE: Shashi-Pena 症候群
エントリ  
H02855                                                             
名称    
Shashi-Pena 症候群
  上位グループ
ヒストン修飾異常を伴う神経発達障害 [DS:H02803]
顔異形を伴う神経発達障害 [DS:H02535]
症候群性神経発達障害 [DS:H02459]
概要    
Shashi-Pena syndrome (SHAPNS) is characterized by distinctive facial features accompanied by variable further clinical findings. Dental anomalies may include early eruption and loss of teeth as well as small and fragile teeth. Most affected individuals have infantile hypotonia. Macrosomia and macrocephaly are also common. Affected individuals can have variable developmental delay. It has been reported that mutations in ASXL2 cause this syndrome. ASXL2 is one of three Polycomb group protein genes that act as histone methyltransferases and are implicated in embryogenesis. ASXL2 has been reported to regulate skeletal, lipid, and glucose homeostasis and cardiac development.
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
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02855  Shashi-Pena 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06523  ポリコーム複合体によるエピジェネティック制御
   H02855  Shashi-Pena 症候群
ネットワーク
nt06523 Epigenetic regulation by Polycomb complexes
病因遺伝子 
ASXL2 [HSA:55252] [KO:K11471]
リンク   
ICD-11: LD90.Y
OMIM: 617190
文献    
PMID:27693232
  著者
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F
  タイトル
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
  雑誌
Am J Hum Genet 99:991-999 (2016)
DOI:10.1016/j.ajhg.2016.08.017
文献    
PMID:26051940
  著者
Izawa T, Rohatgi N, Fukunaga T, Wang QT, Silva MJ, Gardner MJ, McDaniel ML, Abumrad NA, Semenkovich CF, Teitelbaum SL, Zou W
  タイトル
ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis.
  雑誌
Cell Rep 11:1625-37 (2015)
DOI:10.1016/j.celrep.2015.05.019
文献    
PMID:39527683
  著者
Porter JM, Pena LDM, Spillmann RC, Johnson A, Shashi V
  タイトル
Shashi-Pena Syndrome.
  雑誌
GeneReviews(1993)
LinkDB    

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