OPMD
MCID: OCL008
MIFTS: 52

Oculopharyngeal Muscular Dystrophy (OPMD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

Aliases & Descriptions for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 54 12 23 50 24 25 56 66 13 14
Muscular Dystrophy, Oculopharyngeal 12 50 25 29 42 69
Opmd 23 50 24 25 56 66
Progressive Muscular Dystrophy, Oculopharyngeal Type 25
Muscular Dystrophy Oculopharyngeal 52
Oculopharyngeal Dystrophy 25

Characteristics:

Orphanet epidemiological data:

56
oculopharyngeal muscular dystrophy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: >1/1000,1-9/1000000 (United Kingdom),1-9/100000 (Europe); Age of onset: Adult,Elderly; Age of death: elderly,normal life expectancy;

GeneReviews:

23
oculopharyngeal muscular dystrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


GeneReviews:

23
Penetrance Decade-specific cumulative penetrance for individuals with an autosomal dominant (gcn)13 pathogenic variant [brais et al 1997]:...

Classifications:



External Ids:

OMIM 54 164300
Disease Ontology 12 DOID:11719
ICD10 33 G71.0
MeSH 42 D039141
NCIt 47 C84942
SNOMED-CT 64 77097004
Orphanet 56 ORPHA270
ICD10 via Orphanet 34 G71.0
MESH via Orphanet 43 D039141
UMLS via Orphanet 70 C0270952
MedGen 40 C0270952
UMLS 69 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

NIH Rare Diseases : 50 oculopharyngeal muscular dystrophy (opmd) is a genetic disorder characterized by slowly progressing muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. onset is typically during adulthood, most often between 40 and 60 years of age. symptoms may include: eyelid drooping (ptosis), arm and leg weakness, and difficulty swallowing (dysphagia). there are two types of opmd, distinguished by their patterns of inheritance. they are known as the autosomal dominant and autosomal recessive types. both types are caused by mutations in the pabpn1 gene.treatment depends on the signs and symptoms present in each individual. ptosis and dysphagia can be managed with surgery; however, recurrence of symptoms commonly occurs 5-15 years after intervention. last updated: 6/14/2016

MalaCards based summary : Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to dysphagia and oculopharyngodistal myopathy, and has symptoms including ophthalmoplegia, ptosis and myopathy. An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways/superpathways are Translational Control and Regulation of retinoblastoma protein. The drugs Capsaicin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and testes, and related phenotypes are Increased SMN2 exon 7 inclusion and muscle

UniProtKB/Swiss-Prot : 66 Oculopharyngeal muscular dystrophy: A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb- muscle involvement.

Genetics Home Reference : 25 Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles.

Wikipedia : 71 Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally... more...

Description from OMIM: 164300
GeneReviews: NBK1126

Related Diseases for Oculopharyngeal Muscular Dystrophy

Diseases related to Oculopharyngeal Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
id Related Disease Score Top Affiliating Genes
1 dysphagia 11.4
2 oculopharyngodistal myopathy 11.4
3 muscular dystrophy 11.1
4 swallowing disorders 11.0
5 myopathy 10.4
6 ptosis 10.3
7 esophagitis 10.3
8 myositis 10.2
9 inclusion body myositis 10.2
10 pharyngitis 10.2
11 brain ischemia 10.1 MYH7 PCOLCE
12 neuropathy 10.1
13 monieziasis 9.9 MYH7 PABPN1 PCOLCE
14 obstructive sleep apnea 9.9
15 hereditary neuropathies 9.9
16 arachnoiditis 9.9
17 dementia 9.9
18 muscular atrophy 9.9
19 neuronitis 9.9
20 meningitis 9.9
21 arachnoid cysts 9.9
22 myasthenia gravis 9.9
23 hereditary neuropathy with liability to pressure palsy 9.9
24 sleep apnea 9.9
25 tuberculous meningitis 9.9
26 cerebellar liponeurocytoma 9.9 BCL2 RPS27A
27 subacute monocytic leukemia 9.8 BCL2 SMARCA4
28 spastic paraplegia 52, autosomal recessive 8.7 BCL2 HNRNPA1 HNRNPA2B1 MYH7 MYOD1 PABPN1

Graphical network of the top 20 diseases related to Oculopharyngeal Muscular Dystrophy:



Diseases related to Oculopharyngeal Muscular Dystrophy

Symptoms & Phenotypes for Oculopharyngeal Muscular Dystrophy

Symptoms by clinical synopsis from OMIM:

164300

Clinical features from OMIM:

164300

Human phenotypes related to Oculopharyngeal Muscular Dystrophy:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000602
2 ptosis 56 32 Very frequent (99-80%) HP:0000508
3 myopathy 56 32 Very frequent (99-80%) HP:0003198
4 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
5 mask-like facies 56 32 Occasional (29-5%) HP:0000298
6 ragged-red muscle fibers 56 32 Very frequent (99-80%) HP:0003200
7 spondylolisthesis 56 32 Very frequent (99-80%) HP:0003302
8 abnormality of the pharynx 56 32 Very frequent (99-80%) HP:0000600
9 rimmed vacuoles 56 32 Very frequent (99-80%) HP:0003805
10 dysarthria 32 HP:0001260
11 gait disturbance 32 HP:0001288
12 dysphagia 32 HP:0002015
13 facial palsy 32 HP:0010628
14 abnormality of muscle fibers 56 Very frequent (99-80%)
15 distal muscle weakness 32 HP:0002460
16 proximal muscle weakness 32 HP:0003701
17 limb muscle weakness 32 HP:0003690
18 neck muscle weakness 32 HP:0000467
19 progressive ptosis 32 HP:0007838

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

GenomeRNAi Phenotypes related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1

MGI Mouse Phenotypes related to Oculopharyngeal Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 BCL2 MYH7 MYOD1 PCOLCE SMARCA4

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

Drugs for Oculopharyngeal Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capsaicin Approved Early Phase 1 404-86-4 1548943
2
Ethanol Approved Early Phase 1 64-17-5 702
3 Antipruritics Early Phase 1
4 Dermatologic Agents Early Phase 1
5 Peripheral Nervous System Agents Early Phase 1
6 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Continuation Protocol to Protocol BBCO-001 Active, not recruiting NCT02328482 Phase 3
2 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
3 Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of Myoblasts Completed NCT00773227 Phase 2
4 Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) Patients Completed NCT02015481 Phase 2
5 Dysphagia in Oculopharyngeal Muscular Dystrophy (OPMD)- Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow up Unknown status NCT01167439 Phase 1
6 Effect of Aerobic Training in Patients With Oculopharyngeal Muscular Dystrophy Unknown status NCT02158156
7 Study of Muscle Abnormalities in Patients With Specific Genetic Mutations Completed NCT00001871
8 Screening in Oculopharyngeal Muscular Dystrophy Recruiting NCT02877784 Early Phase 1
9 Natural History Study of Oculopharyngeal Muscular Dystrophy Not yet recruiting NCT03161847

Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophy, oculopharyngeal

Genetic Tests for Oculopharyngeal Muscular Dystrophy

Genetic tests related to Oculopharyngeal Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy 29 24 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

39
Tongue, Eye, Testes, Smooth Muscle, Skeletal Muscle, Hypothalamus

Publications for Oculopharyngeal Muscular Dystrophy

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50) (show all 240)
id Title Authors Year
1
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. ( 28361972 )
2017
2
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1. ( 28303574 )
2017
3
"Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 28472864 )
2017
4
Comparison of Two Polypropylene Frontalis Suspension Techniques in 92 Patients with Oculopharyngeal Muscular Dystrophy. ( 26866330 )
2016
5
Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). ( 27980005 )
2016
6
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. ( 28011929 )
2016
7
Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 27759888 )
2016
8
The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments. ( 26948710 )
2016
9
Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. ( 27854203 )
2016
10
The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy. ( 26453481 )
2015
11
Orthoptic and video-oculographic analyses in oculopharyngeal muscular dystrophy. ( 25677583 )
2015
12
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. ( 27858728 )
2015
13
A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics. ( 26428746 )
2015
14
Oculopharyngeal muscular dystrophy as a rare cause of dysphagia. ( 25831437 )
2015
15
Dropped-head in recessive oculopharyngeal muscular dystrophy. ( 26494409 )
2015
16
Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features. ( 25842253 )
2015
17
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2015
18
Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: a retrospective study with implications for trial design. ( 25500011 )
2015
19
An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy. ( 27858752 )
2015
20
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. ( 25816335 )
2015
21
Progress on gene therapy, cell therapy and pharmacological strategies towards the treatment of Oculopharyngeal Muscular Dystrophy. ( 25860803 )
2015
22
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. ( 24611576 )
2014
23
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. ( 25283883 )
2014
24
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. ( 23831596 )
2014
25
Oculopharyngeal muscular dystrophy as a paradigm for muscle aging. ( 25426070 )
2014
26
Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy. ( 25321879 )
2014
27
Neglected conditions: Oculopharyngeal muscular dystrophy. ( 24688066 )
2014
28
An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy. ( 24878479 )
2014
29
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 25155080 )
2014
30
Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy. ( 24050237 )
2013
31
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. ( 23453859 )
2013
32
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients. ( 23399899 )
2013
33
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. ( 24310666 )
2013
34
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. ( 24091664 )
2013
35
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. ( 23815790 )
2013
36
191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. ( 23578714 )
2013
37
The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry. ( 24551336 )
2013
38
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing. ( 23848287 )
2013
39
Improvement of freezing of gait with amantadine in a patient with oculopharyngeal muscular dystrophy and Parkinsonism. ( 23561947 )
2013
40
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? ( 24449978 )
2013
41
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 24259282 )
2013
42
Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy. ( 22249111 )
2012
43
Cricopharyngeal dilatation for the long-term treatment of dysphagia in oculopharyngeal muscular dystrophy. ( 21805106 )
2012
44
Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy. ( 22898142 )
2012
45
Oculopharyngeal muscular dystrophy: a case report and review of the literature. ( 21683316 )
2012
46
Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland. ( 21602480 )
2012
47
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy. ( 21956377 )
2012
48
Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. ( 22231868 )
2012
49
Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy. ( 21964252 )
2012
50
Primary bilateral silicone frontalis suspension for good levator function ptosis in oculopharyngeal muscular dystrophy. ( 22493036 )
2012

Variations for Oculopharyngeal Muscular Dystrophy

ClinVar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PABPN1 NM_004643.3(PABPN1): c.4_6GCG(6) (p.Ala2_Ala7=) NT expansion Pathogenic rs193922941 GRCh37 Chromosome 14, 23790682: 23790684
2 PABPN1 PABPN1, (GCG)n EXPANSION, (GCG)7 NT expansion Pathogenic
3 PABPN1 NM_004643.3(PABPN1): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894466 GRCh37 Chromosome 14, 23790713: 23790713

Expression for Oculopharyngeal Muscular Dystrophy

Search GEO for disease gene expression data for Oculopharyngeal Muscular Dystrophy.

Pathways for Oculopharyngeal Muscular Dystrophy

Pathways related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.41 HNRNPA1 PABPN1 SMARCA4
2 10.9 MYOD1 SMARCA4
3 9.97 BCL2 SMARCA4

GO Terms for Oculopharyngeal Muscular Dystrophy

Cellular components related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.5 BCL2 HNRNPA1 HNRNPA2B1 MYOD1 PABPN1 RPS27A
2 myofibril GO:0030016 9.16 MYH7 MYOD1
3 intracellular ribonucleoprotein complex GO:0030529 8.92 HNRNPA1 HNRNPA2B1 PABPN1 RPS27A

Biological processes related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.61 HNRNPA1 HNRNPA2B1 PABPN1
2 gene expression GO:0010467 9.4 HNRNPA1 HNRNPA2B1
3 RNA metabolic process GO:0016070 9.37 HNRNPA1 HNRNPA2B1
4 mRNA splicing, via spliceosome GO:0000398 9.33 HNRNPA1 HNRNPA2B1 PABPN1
5 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.32 HNRNPA1 MYOD1
6 cellular response to glucose starvation GO:0042149 9.26 BCL2 HNRNPA1
7 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 8.96 BCL2 SMARCA4
8 positive regulation of skeletal muscle fiber development GO:0048743 8.62 BCL2 MYOD1

Molecular functions related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 BCL2 HNRNPA1 HNRNPA2B1 MYH7 MYOD1 PABPN1
2 transcription factor binding GO:0008134 9.33 BCL2 MYOD1 SMARCA4
3 nucleotide binding GO:0000166 9.26 HNRNPA2B1 MYH7 PABPN1 SMARCA4
4 G-rich strand telomeric DNA binding GO:0098505 8.62 HNRNPA1 HNRNPA2B1

Sources for Oculopharyngeal Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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