KEGG   DISEASE: 顔異形と歯の異常を伴う発達遅滞
エントリ  
H02686                                                             
名称    
顔異形と歯の異常を伴う発達遅滞
  下位グループ
Den Hoed-de Boer-Voisin 症候群 (DHDBV)
概要    
Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is a neurodevelopmental disorder associated with SATB1 dysfunction. SATB1 encodes a transcription factor with crucial roles in development and maturation of T cells. Missense variants in the CUT1 and CUT2 DNA-binding domains result in a severe phenotype that is known as den Hoed-de Boer-Voisin syndrome (DHDBV).
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
   H02686  顔異形と歯の異常を伴う発達遅滞
病因遺伝子 
(DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225]
リンク   
ICD-11: LD90.Y
OMIM: 619228 619229
文献    
  著者
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistiene L, Coon H, Delot EC, Demurger F, Denomme-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kucinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preiksaitiene E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM
  タイトル
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
  雑誌
Am J Hum Genet 108:346-356 (2021)
DOI:10.1016/j.ajhg.2021.01.007
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