KEGG DISEASE: Oculopharyngeal muscular dystrophy

DISEASE: Oculopharyngeal muscular dystrophy

Entry

H00704                      Disease

Name

Oculopharyngeal muscular dystrophy

Description

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.

Category

Nervous system disease; Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C82  Disorders of extraocular muscles
    H00704  Oculopharyngeal muscular dystrophy

Pathway

hsa03015

mRNA surveillance pathway

Gene

(OPMD1) PABPN1 [HSA:8106] [KO:K14396]
(OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:17110089

Authors

Abu-Baker A, Rouleau GA

Title

Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.

Journal

Biochim Biophys Acta 1772:173-85 (2007)
DOI:10.1016/j.bbadis.2006.10.003

Reference

PMID:19080757

Authors

Brais B

Title

Oculopharyngeal muscular dystrophy: a polyalanine myopathy.

Journal

Curr Neurol Neurosci Rep 9:76-82 (2009)
DOI:10.1007/s11910-009-0012-y

Reference

PMID:22001477

Authors

Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N

Title

Oculopharyngeal muscular dystrophy associated with dementia.

Journal

Intern Med 50:2409-12 (2011)
DOI:10.2169/internalmedicine.50.5577

Reference

PMID:9462747 (OPMD1)

Authors

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

Title

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.

Journal

Nat Genet 18:164-7 (1998)
DOI:10.1038/ng0298-164

Reference

PMID:35484142 (OPMD2)

Authors

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

Title

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.

Journal

Nat Commun 13:2306 (2022)
DOI:10.1038/s41467-022-30015-1

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (5)   
   PubMed (5)   
All databases (11)   

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