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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 52 11 23 48 24 25 54 70 12 13
Muscular Dystrophy, Oculopharyngeal 11 48 25 27 39 68
Opmd 23 48 24 25 54 70
 
Progressive Muscular Dystrophy, Oculopharyngeal Type 25
Muscular Dystrophy Oculopharyngeal 50
Oculopharyngeal Dystrophy 25

Characteristics:

Orphanet epidemiological data:

54
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

HPO:

64
oculopharyngeal muscular dystrophy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, progressive

GeneReviews:

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


Classifications:



External Ids:

OMIM52 164300
Disease Ontology11 DOID:11719
ICD1030 G71.0
MeSH39 D039141
NCIt45 C84942
SNOMED-CT62 77097004
Orphanet54 ORPHA270
ICD10 via Orphanet31 G71.0
MESH via Orphanet40 D039141
UMLS via Orphanet69 C0270952
MedGen37 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

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NIH Rare Diseases:48 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 facial paresis, facial paresis and Array. An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways are Regulation of retinoblastoma protein and Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex. Affiliated tissues include tongue, eye and hypothalamus, and related mouse phenotypes are Increased SMN2 exon 7 inclusion and muscle.

UniProtKB/Swiss-Prot:70 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:52 164300

GeneReviews for NBK1126

Related Diseases for Oculopharyngeal Muscular Dystrophy

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



Diseases related to oculopharyngeal muscular dystrophy

Symptoms & Phenotypes for Oculopharyngeal Muscular Dystrophy

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Symptoms by clinical synopsis from OMIM:

164300

Clinical features from OMIM:

164300

Human phenotypes related to Oculopharyngeal Muscular Dystrophy:

 54 64 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mask-like facies64 54 Occasional (29-5%) HP:0000298
2 ptosis64 54 Very frequent (99-80%) HP:0000508
3 abnormality of the pharynx64 54 Very frequent (99-80%) HP:0000600
4 ophthalmoplegia64 54 Very frequent (99-80%) HP:0000602
5 myopathy64 54 Very frequent (99-80%) HP:0003198
6 ragged-red muscle fibers64 54 Very frequent (99-80%) HP:0003200
7 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
8 spondylolisthesis64 54 Very frequent (99-80%) HP:0003302
9 rimmed vacuoles64 54 Very frequent (99-80%) HP:0003805
10 abnormality of muscle fibers54 Very frequent (99-80%)
11 neck muscle weakness64 HP:0000467
12 dysarthria64 HP:0001260
13 gait disturbance64 HP:0001288
14 dysphagia64 HP:0002015
15 distal muscle weakness64 HP:0002460
16 limb muscle weakness64 HP:0003690
17 proximal muscle weakness64 HP:0003701
18 progressive ptosis64 HP:0007838
19 facial palsy64 HP:0010628

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00254-A10.1HNRNPA1, HNRNPA2B1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9BCL2, MYH7, MYOD1, PCOLCE, SMARCA4

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EthanolapprovedEarly Phase 1213764-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
2
CapsaicinapprovedEarly Phase 1176404-86-41548943
Synonyms:
(6E)-N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
(6E)-N-{[4-hydroxy-3-(methyloxy)phenyl]methyl}-8-methylnon-6-enamide
(E)-8-Methyl-N-vanillyl-6-nonenamide
(E)-8-Methyl-N-vanillyl-6-nonenamide(8cl)
(E)-Capsaicin
(E)-N-((4-Hydroxy-3-methoxyphenyl)-methyl)-8-methyl-6-nonenamide
(E)-N-[(4-hydroxy-3-methoxyphenyl)methyl]-8-methylnon-6-enamide
(E)8-methyl-N-vanillyl-6-Nonenamide
12084_FLUKA
21748_FLUKA
21748_SIGMA
21750_FLUKA
21750_SIGMA
360376_ALDRICH
360376_SIGMA
404-86-4
6-Nonenamide, (E)-N-((4-hydroxy-3-methoxy-phenyl)methyl)-8-methyl
6-Nonenamide, 8-methyl-N-vanillyl-, (E)- (8CI)
8 Methyl N Vanillyl 6 Nonenamide
8-Methyl-N-Vanillyl-6-Nonenamide
8-Methyl-N-vanillyl-trans-6-nonenamide
912457-62-6
AC1LU7K3
AC1Q46B3
Alacan Brand of Capsaicin
Antiphlogistine Rub A-535 Capsaicin
Axsain
BPBio1_001053
BRD-K37056290-001-01-1
BRD-K50590187-001-06-6
BRN 2816484
BSPBio_000957
BSPBio_001548
BSPBio_002917
Bio-0615
C-1700
C06866
C18H27NO3
CAPSAICIN (2444-46-4 NONIVAMIDE (SYNTHETIC CAPSAICIN))
CAPSAICINE
CCRIS 1588
CHEBI:3374
CHEMBL294199
CID1548943
Capsaicin
Capsaicin (JAN/USP)
Capsaicin (Natural)
Capsaicin (in oleoresin of capsicum)
Capsaicin (jan/usp)
Capsaicin Patch
Capsaicin [USAN]
Capsaicin [in oleoresin of capsicum]
Capsaicin [usan]
Capsicum Farmaya
Capsidol
Capsin
Capzasin
Carter Horner Brand of Capsaicin
Caswell No. 158
Centrum Brand of Capsaicin
D002211
D00250
E-CAPSAICIN
E-Capsaicin
EINECS 206-969-8
EPA Pesticide Chemical Code 070701
Elan Brand of Capsaicin
FEMA No. 3404
FT-0082538
Flemming Brand of Capsaicin
Gelcen
HMS1361N10
HMS1570P19
HMS1791N10
HMS1921H11
HMS1989N10
 
HMS2089N11
HMS2092D21
HMS501B16
HSDB 954
I01-2469
IDI1_000354
IDI1_034018
Isodecenoate
Isodecenoic acid
Isodecenoic acid vanillylamide
Katrum
LS-2138
Link Brand of Capsaicin
M1149
M2028_SIGMA
MEGxp0_001448
MLS002154049
MR3H3
Medicis Brand of Capsaicin
MolPort-001-742-263
N-(4-Hydroxy-3-methoxybenzyl)-8-methylnon-trans-6-enamide
N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
N-[(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
N-[(4-hydroxy-3-methoxy-phenyl)methyl]nonanamide
NCGC00090853-01
NCGC00090853-02
NCGC00090853-03
NCGC00090853-04
NCGC00090853-06
NCGC00090853-07
NCGC00090853-08
NCGC00090853-09
NCI-C56564
NGX 4010
NGX-1998
NGX-3781
NGX-4010
NGX-7325
NGX4010
NSC 56353
NSC56353
Prestwick2_000879
Prestwick3_000879
Prestwick_204
Qutenza
S1990_Selleck
SDCCGMLS-0066678.P001
SMP2_000337
SMR000718774
SPECTRUM1501128
Smaller Brand of Capsaicin
Spectrum5_000538
Styptysat
TL8002946
TQ-1018
Thompson Brand of Capsaicin
Transacin
UNII-S07O44R1ZM
UPCMLD-DP092
UPCMLD-DP092:001
UPCMLD-DP092:002
Vinas Brand of Capsaicin
ZINC01530575
ZOSTRIX (TN)
Zacin
Zostrix
Zostrix (TN)
Zostrix HP
[(E)-N-(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
depletes Substance P
epsilon-Capsaicin
n-(4-hydroxy-3-methoxybenzyl)-8-methyl-6-nonenamide
nchembio.146-comp1
nchembio862-comp2
neurotoxic
trans-8-Methyl-N-vanillyl-6-nonenamide
trans-Capsaicin
3Peripheral Nervous System AgentsEarly Phase 123689
4Pharmaceutical SolutionsEarly Phase 18192
5Dermatologic AgentsEarly Phase 15806
6AntipruriticsEarly Phase 1841

Interventional clinical trials:

idNameStatusNCT IDPhase
1Continuation Protocol to Protocol BBCO-001Active, not recruitingNCT02328482Phase 3
2Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous GraftActive, not recruitingNCT02878694Phase 2, Phase 3
3Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of MyoblastsCompletedNCT00773227Phase 2
4Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) PatientsCompletedNCT02015481Phase 2
5Dysphagia in Oculopharyngeal Muscular Dystrophy (OPMD)- Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow upUnknown statusNCT01167439Phase 1
6Effect of Aerobic Training in Patients With Oculopharyngeal Muscular DystrophyUnknown statusNCT02158156
7Study of Muscle Abnormalities in Patients With Specific Genetic MutationsCompletedNCT00001871
8Screening in Oculopharyngeal Muscular DystrophyRecruitingNCT02877784Early Phase 1
9Natural History Study of Oculopharyngeal Muscular DystrophyNot yet recruitingNCT03161847

Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy


Cochrane evidence based reviews: muscular dystrophy, oculopharyngeal

Genetic Tests for Oculopharyngeal Muscular Dystrophy

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Genetic tests related to Oculopharyngeal Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy27 24 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

About this section

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

36
Tongue, Eye, Hypothalamus, Skeletal muscle, Smooth muscle, Testes

Publications for Oculopharyngeal Muscular Dystrophy

About this section

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 240)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PABPN1NM_ 004643.3(PABPN1): c.4_ 6GCG(6) (p.Ala2_ Ala7=)NT expansionPathogenicrs193922941GRCh37Chr 14, 23790682: 23790684
2PABPN1PABPN1, (GCG)n EXPANSION, (GCG)7NT expansionPathogenic
3PABPN1NM_ 004643.3(PABPN1): c.35G> C (p.Gly12Ala)SNVPathogenicrs104894466GRCh37Chr 14, 23790713: 23790713

Expression for genes affiliated with Oculopharyngeal Muscular Dystrophy

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

Pathways for genes affiliated with Oculopharyngeal Muscular Dystrophy

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

idSuper pathwaysScoreTop Affiliating Genes
19.1MYOD1, SMARCA4
29.1BCL2, SMARCA4
38.9HNRNPA1, PABPN1, SMARCA4

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:003001610.4MYH7, MYOD1
2intracellular ribonucleoprotein complexGO:00305299.5HNRNPA1, HNRNPA2B1, PABPN1, RPS27A
3nucleoplasmGO:00056546.8BCL2, HNRNPA1, HNRNPA2B1, MYOD1, PABPN1, RPS27A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular response to glucose starvationGO:004214910.2BCL2, HNRNPA1
2gene expressionGO:001046710.1HNRNPA1, HNRNPA2B1
3regulation of alternative mRNA splicing, via spliceosomeGO:00003819.9HNRNPA1, MYOD1
4positive regulation of skeletal muscle fiber developmentGO:00487439.9BCL2, MYOD1
5mRNA processingGO:00063979.7HNRNPA1, HNRNPA2B1, PABPN1
6negative regulation of G1/S transition of mitotic cell cycleGO:20001349.6BCL2, SMARCA4
7mRNA splicing, via spliceosomeGO:00003989.6HNRNPA1, HNRNPA2B1, PABPN1
8RNA metabolic processGO:00160709.4HNRNPA1, HNRNPA2B1

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

idNameGO IDScoreTop Affiliating Genes
1G-rich strand telomeric DNA bindingGO:009850510.2HNRNPA1, HNRNPA2B1
2nucleotide bindingGO:00001669.2HNRNPA2B1, MYH7, PABPN1, SMARCA4
3transcription factor bindingGO:00081348.6BCL2, MYOD1, SMARCA4
4protein bindingGO:00055156.7BCL2, HNRNPA1, HNRNPA2B1, MYH7, MYOD1, PABPN1

Sources for Oculopharyngeal Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet