KEGG   DISEASE: Prieto 症候群
エントリ  
H02765                                                             
名称    
Prieto 症候群
概要    
Prieto syndrome (PRS) is a rare X-linked intellectual disability with variable epilepsy and structural brain abnormalities. It has been reported that mutations in WNK3 cause this syndrome. WNK3 is a chloride and cell volume-sensitive kinase, implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters.
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
   H02765  Prieto 症候群
病因遺伝子 
WNK3 [HSA:65267] [KO:K08867]
リンク   
ICD-11: LD90.Y
OMIM: 309610
文献    
  著者
Kury S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denomme-Pichon AS, Cogne B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Ounap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Breheret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Perez-Pena H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martinez F, Bezieau S, Kahle KT, Isidor B
  タイトル
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
  雑誌
Genet Med 24:1941-1951 (2022)
DOI:10.1016/j.gim.2022.05.009
文献    
PMID:1673297
  著者
Watty A, Prieto F, Beneyto M, Neugebauer M, Gal A
  タイトル
Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome).
  雑誌
Am J Med Genet 38:234-9 (1991)
DOI:10.1002/ajmg.1320380213
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