KEGG   DISEASE: 筋緊張低下および様々な知能・行動異常を伴う神経発達障害
エントリ  
H02571                                                             
名称    
筋緊張低下および様々な知能・行動異常を伴う神経発達障害
概要    
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay. Patients harboring de novo heterozygous variants in POLR2A have been reported. Human POLR2A encodes the RPB1 protein, which is the largest of twelve subunits of the essential RNA polymerase II enzyme. Elongation of RNA polymerase II is affected by many factors including DNA damage.
カテゴリ  
神経系疾患
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
    H02571  筋緊張低下および様々な知能・行動異常を伴う神経発達障害
パスウェイに基づく疾患分類 [BR:jp08402]
 複製と修復
  nt06502  ヌクレオチド除去修復
   H02571  筋緊張低下および様々な知能・行動異常を伴う神経発達障害
パスウェイ 
hsa03020  RNA polymerase
ネットワーク
nt06502 Nucleotide excision repair
病因遺伝子 
POLR2A [HSA:5430] [KO:K03006]
リンク   
ICD-11: 6A0Y
OMIM: 618603
文献    
PMID:31353023
  著者
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
  タイトル
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
  雑誌
Am J Hum Genet 105:283-301 (2019)
DOI:10.1016/j.ajhg.2019.06.016
文献    
PMID:33894524
  著者
Duan M, Speer RM, Ulibarri J, Liu KJ, Mao P
  タイトル
Transcription-coupled nucleotide excision repair: New insights revealed by genomic approaches.
  雑誌
DNA Repair (Amst) 103:103126 (2021)
DOI:10.1016/j.dnarep.2021.103126
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