KEGG   DISEASE: Neuromuscular oculoauditory 症候群
エントリ  
H02745                                                             
名称    
Neuromuscular oculoauditory 症候群
概要    
Neuromuscular oculoauditory syndrome (NMOAS) is a rare disease caused by mutations in DHX16. Patients share features of central nervous system anomalies and seizures. NMOAS can have varied presentations and can be suspected in a young infant with weakness, seizures, blindness and deafness. DHX16 is a member of the spliceosome complex B and is required for pre-mRNA splicing.
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
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02745  Neuromuscular oculoauditory 症候群
病因遺伝子 
DHX16 [HSA:8449] [KO:K12813]
リンク   
ICD-11: LD20.Y
ICD-10: Q04.8
OMIM: 618733
文献    
PMID:31256877
  著者
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR
  タイトル
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
  雑誌
Am J Hum Genet 105:302-316 (2019)
DOI:10.1016/j.ajhg.2019.06.001
文献    
PMID:36211162
  著者
Archana A, Selvan T, Kumar VR, Abinaya K, Kasturi N
  タイトル
A Rare Case of Neuromuscular Oculoauditory Syndrome.
  雑誌
Ann Indian Acad Neurol 25:780-781 (2022)
DOI:10.4103/aian.aian_67_22
LinkDB    

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