Details of Disease

General Information of Disease (ID: DISF4G07)

Disease Name	Oculopharyngeal muscular dystrophy
Synonyms	OPMD; oculopharyngeal muscular dystrophy; muscular dystrophy, oculopharyngeal
Disease Class	9C82: Extraocular muscle disorder
Definition	Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
Disease Hierarchy	DISRFD52: Myopathy of extraocular muscle DISV66YX: Progressive muscular dystrophy DISF4G07: Oculopharyngeal muscular dystrophy
ICD Code	ICD-11 ICD-11: 9C82.1 ICD-10 ICD-10: H49-H52 Expand ICD-11 '9C82.1 Expand ICD-10 'H49-H52
Disease Identifiers	MONDO ID MONDO_0008116 MESH ID D039141 UMLS CUI C0270952 OMIM ID 164300 MedGen ID 75730 Orphanet ID 270 SNOMED CT ID 77097004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Trehalose	DMWX8UM	Phase 2	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCG	TT6Y4PN	Strong	Biomarker	[2]
FKBP1A	TTMW94E	Definitive	Biomarker	[3]
PABPC1	TTHC8EF	Definitive	Genetic Variation	[4]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NRL	OT65MFKQ	moderate	Genetic Variation	[5]
LRP12	OTRT1UJ7	Strong	Biomarker	[6]
DNAJA1	OT38BZQQ	Definitive	Biomarker	[7]
DNAJB6	OTMHIIAN	Definitive	Biomarker	[8]
MLF1	OTC5BKHU	Definitive	Biomarker	[8]
PABPN1	OT3MC5SE	Definitive	Autosomal dominant	[9]
PAX7	OTDMQRPO	Definitive	Altered Expression	[10]
SACS	OTZGXQ8A	Definitive	Altered Expression	[11]
TNNT3	OT4C498E	Definitive	Biomarker	[12]
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⏷ Show the Full List of 9 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.Mol Ther Nucleic Acids. 2019 Apr 15;15:12-25. doi: 10.1016/j.omtn.2019.02.003. Epub 2019 Feb 15.
3	PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.Neurobiol Dis. 2005 Apr;18(3):551-67. doi: 10.1016/j.nbd.2004.10.019.
4	A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging.Aging (Albany NY). 2013 Jun;5(6):412-26. doi: 10.18632/aging.100567.
5	Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.Genet Test Mol Biomarkers. 2017 Jul;21(7):450-453. doi: 10.1089/gtmb.2016.0429. Epub 2017 Jun 7.
6	Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22.
7	Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy.J Biol Chem. 2002 Apr 5;277(14):12263-9. doi: 10.1074/jbc.M109633200. Epub 2002 Jan 16.
8	Non-pathogenic protein aggregates in skeletal muscle in MLF1 transgenic mice.J Neurol Sci. 2008 Jan 15;264(1-2):77-86. doi: 10.1016/j.jns.2007.07.027. Epub 2007 Sep 12.
9	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
10	Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.FASEB J. 2019 Jun;33(6):7155-7167. doi: 10.1096/fj.201801577RR. Epub 2019 Mar 12.
11	Human genetics: lessons from Quebec populations.Annu Rev Genomics Hum Genet. 2001;2:69-101. doi: 10.1146/annurev.genom.2.1.69.
12	Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.Nucleic Acids Res. 2016 Dec 15;44(22):10929-10945. doi: 10.1093/nar/gkw703. Epub 2016 Aug 9.