MCID: OCL008
MIFTS: 50

Oculopharyngeal Muscular Dystrophy

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

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

MalaCards integrated aliases for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 54 12 23 50 24 25 56 71 29 13 14
Opmd 23 50 24 25 56 71
Muscular Dystrophy, Oculopharyngeal 12 50 25 42 69
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
late-adult onset (fifth to sixth decade)
autosomal recessive inheritance has been reported
carrier frequency 1:1,000 in french-canadians in quebec
carrier frequency 1:200,000 in france
carrier frequency 1:700 in bukhara jewish populations


HPO:

32
oculopharyngeal muscular dystrophy:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


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
MESH via Orphanet 43 D039141
UMLS via Orphanet 70 C0270952
ICD10 via Orphanet 34 G71.0
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 opmd, is related to dysphagia and oculopharyngodistal myopathy, and has symptoms including ptosis, myopathy and spondylolisthesis. An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (Poly(A) Binding Protein Nuclear 1). The drugs Capsaicin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and testes, and related phenotype is Increased Sindbis virus (SINV) infection.

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.

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 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

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 via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
dysphagia
dysarthria
pharyngeal muscle weakness
decreased gag reflex
proximal limb muscle weakness (occurs later)
more
Head And Neck- Face:
facial muscle weakness
expressionless face

Abdomen- Gastroin testinal:
dysphagia, progressive
coughing with swallowing

Head And Neck- Neck:
neck muscle weakness

Head And Neck- Eyes:
ptosis, progressive
extraocular movements may be mildly decreased


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 ptosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 myopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003198
3 spondylolisthesis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003302
4 rimmed vacuoles 56 32 hallmark (90%) Very frequent (99-80%) HP:0003805
5 ophthalmoplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000602
6 mask-like facies 56 32 occasional (7.5%) Occasional (29-5%) HP:0000298
7 elevated serum creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0003236
8 ragged-red muscle fibers 56 32 hallmark (90%) Very frequent (99-80%) HP:0003200
9 abnormality of the pharynx 56 32 hallmark (90%) Very frequent (99-80%) HP:0000600
10 dysphagia 32 HP:0002015
11 dysarthria 32 HP:0001260
12 neck muscle weakness 32 HP:0000467
13 distal muscle weakness 32 HP:0002460
14 proximal muscle weakness 32 HP:0003701
15 gait disturbance 32 HP:0001288
16 facial palsy 32 HP:0010628
17 limb muscle weakness 32 HP:0003690
18 abnormality of muscle fibers 56 Very frequent (99-80%)
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 Sindbis virus (SINV) infection GR00310-A-1 9.35 MYH7 PABPN1 RPS27A
2 Increased Sindbis virus (SINV) infection GR00310-A-2 9.35 MYH7 PABPN1
3 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1

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 Drugs
1 Continuation Protocol to Protocol BBCO-001 Active, not recruiting NCT02328482 Phase 3 Cabaletta 30gr
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 Cabaletta
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 Capsaicin
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 244)
id Title Authors Year
1
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. ( 28590779 )
2017
2
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. ( 28361972 )
2017
3
Optimization of genetic diagnosis of oculopharyngeal muscular dystrophy and its application in the analysis of a family pedigree from La Palma Island (Canary Islands, Spain). ( 28571954 )
2017
4
Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. ( 28575395 )
2017
5
Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature. ( 28761633 )
2017
6
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1. ( 28303574 )
2017
7
"Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 28472864 )
2017
8
Comparison of Two Polypropylene Frontalis Suspension Techniques in 92 Patients with Oculopharyngeal Muscular Dystrophy. ( 26866330 )
2016
9
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. ( 28011929 )
2016
10
Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 27759888 )
2016
11
Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. ( 27854203 )
2016
12
The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments. ( 26948710 )
2016
13
Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). ( 27980005 )
2016
14
Dropped-head in recessive oculopharyngeal muscular dystrophy. ( 26494409 )
2015
15
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. ( 25816335 )
2015
16
Orthoptic and video-oculographic analyses in oculopharyngeal muscular dystrophy. ( 25677583 )
2015
17
An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy. ( 27858752 )
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
Oculopharyngeal muscular dystrophy as a rare cause of dysphagia. ( 25831437 )
2015
20
A South African family with oculopharyngeal muscular dystrophy: Clinical and molecular genetic characteristics. ( 26428746 )
2015
21
Progress on gene therapy, cell therapy and pharmacological strategies towards the treatment of Oculopharyngeal Muscular Dystrophy. ( 25860803 )
2015
22
Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features. ( 25842253 )
2015
23
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2015
24
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. ( 27858728 )
2015
25
The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy. ( 26453481 )
2015
26
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. ( 24611576 )
2014
27
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 25155080 )
2014
28
Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy. ( 25321879 )
2014
29
Oculopharyngeal muscular dystrophy as a paradigm for muscle aging. ( 25426070 )
2014
30
Neglected conditions: Oculopharyngeal muscular dystrophy. ( 24688066 )
2014
31
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. ( 23831596 )
2014
32
An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy. ( 24878479 )
2014
33
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. ( 25283883 )
2014
34
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing. ( 23848287 )
2013
35
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. ( 24091664 )
2013
36
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. ( 23453859 )
2013
37
191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. ( 23578714 )
2013
38
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. ( 24310666 )
2013
39
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. ( 23815790 )
2013
40
Safety of botulinum toxin for dysphagia in oculopharyngeal muscular dystrophy. ( 24259282 )
2013
41
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
42
Improvement of freezing of gait with amantadine in a patient with oculopharyngeal muscular dystrophy and Parkinsonism. ( 23561947 )
2013
43
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients. ( 23399899 )
2013
44
Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy. ( 24050237 )
2013
45
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? ( 24449978 )
2013
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
Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy. ( 22249111 )
2012
49
Oculopharyngeal muscular dystrophy: a case report and review of the literature. ( 21683316 )
2012
50
Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy. ( 21964252 )
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

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 cytoplasm GO:0005737 9.86 HNRNPA1 HNRNPA2B1 MYH7 MYOD1 PABPN1 PYGM
2 extracellular exosome GO:0070062 9.63 HNRNPA1 HNRNPA2B1 PCOLCE PYGM RPS27A TGM2
3 myofibril GO:0030016 8.96 MYH7 MYOD1
4 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 9.43 HNRNPA1 HNRNPA2B1 PABPN1
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.32 HNRNPA1 RPS27A
3 RNA metabolic process GO:0016070 9.16 HNRNPA1 HNRNPA2B1
4 regulation of alternative mRNA splicing, via spliceosome GO:0000381 8.96 HNRNPA1 MYOD1
5 mRNA splicing, via spliceosome GO:0000398 8.8 HNRNPA1 HNRNPA2B1 PABPN1

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 9.81 HNRNPA1 HNRNPA2B1 MYH7 MYOD1 PABPN1 PCOLCE
2 miRNA binding GO:0035198 8.65 HNRNPA2B1
3 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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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