KEGG   DISEASE: 眼球咽頭型筋ジストロフィー
エントリ  
H00704                                                             
名称    
眼球咽頭型筋ジストロフィー
概要    
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to be affected in some rare cases. Recently, it has been reported that mutations in HNRNPA2B1 cause this disease.
カテゴリ  
神経系疾患; 筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  斜視または眼球運動障害
   9C82  外眼筋の疾患
    H00704  眼球咽頭型筋ジストロフィー
パスウェイ 
hsa03015  mRNA surveillance pathway
病因遺伝子 
(OPMD1) PABPN1 [HSA:8106] [KO:K14396]
(OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158]
リンク   
ICD-11: 9C82.1
MeSH: D039141
OMIM: 164300 620460
文献    
PMID:17110089
  著者
Abu-Baker A, Rouleau GA
  タイトル
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.
  雑誌
Biochim Biophys Acta 1772:173-85 (2007)
DOI:10.1016/j.bbadis.2006.10.003
文献    
PMID:19080757
  著者
Brais B
  タイトル
Oculopharyngeal muscular dystrophy: a polyalanine myopathy.
  雑誌
Curr Neurol Neurosci Rep 9:76-82 (2009)
DOI:10.1007/s11910-009-0012-y
文献    
PMID:22001477
  著者
Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N
  タイトル
Oculopharyngeal muscular dystrophy associated with dementia.
  雑誌
Intern Med 50:2409-12 (2011)
DOI:10.2169/internalmedicine.50.5577
文献    
PMID:9462747 (OPMD1)
  著者
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA
  タイトル
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
  雑誌
Nat Genet 18:164-7 (1998)
DOI:10.1038/ng0298-164
文献    
PMID:35484142 (OPMD2)
  著者
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Topf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Pereon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Bohm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bonnemann CG, Taylor JP
  タイトル
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
  雑誌
Nat Commun 13:2306 (2022)
DOI:10.1038/s41467-022-30015-1
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