KEGG   DISEASE: Diets-Jongmans 症候群
エントリ  
H02521                                                             
名称    
Diets-Jongmans 症候群
概要    
Diets-Jongmans syndrome (DIJOS) is an inherited neurodevelopmental disorder characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes a histone demethylase. KDM3B is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 06 精神, 行動, 神経発達の障害
  神経発達症
   6A0Y  その他の明示された神経発達症
    H02521  Diets-Jongmans 症候群
パスウェイ 
hsa04714  Thermogenesis
病因遺伝子 
KDM3B [HSA:51780] [KO:K15601]
リンク   
ICD-11: 6A0Y
OMIM: 618846
文献    
  著者
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ
  タイトル
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
  雑誌
Am J Hum Genet 104:758-766 (2019)
DOI:10.1016/j.ajhg.2019.02.023
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