MCID: OCL008
MIFTS: 51

Oculopharyngeal Muscular Dystrophy malady

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

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 51 11 23 47 24 25 53 69 12 13
Muscular Dystrophy, Oculopharyngeal 11 47 25 26 38 67
Opmd 23 47 24 25 53 69
 
Progressive Muscular Dystrophy, Oculopharyngeal Type 25
Muscular Dystrophy Oculopharyngeal 49
Oculopharyngeal Dystrophy 25

Characteristics:

Orphanet epidemiological data:

53
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:

63
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:

OMIM51 164300
Disease Ontology11 DOID:11719
ICD1029 G71.0
MeSH38 D039141
NCIt44 C84942
SNOMED-CT61 77097004
Orphanet53 ORPHA270
ICD10 via Orphanet30 G71.0
MESH via Orphanet39 D039141
UMLS via Orphanet68 C0270952
MedGen36 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

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NIH Rare Diseases:47 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 ptosis, ophthalmoparesis and abnormality of the pharynx. 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 Translational Control. Affiliated tissues include tongue, skeletal muscle and eye, and related mouse phenotype muscle.

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:69 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:70 Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally... more...

Description from OMIM:51 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 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:

 63 53 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000508
2 ophthalmoparesis63 hallmark (90%) HP:0000597
3 abnormality of the pharynx63 53 hallmark (90%) Very frequent (99-80%) HP:0000600
4 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
5 skeletal muscle atrophy63 hallmark (90%) HP:0003202
6 mask-like facies63 53 occasional (7.5%) Occasional (29-5%) HP:0000298
7 neck muscle weakness63 HP:0000467
8 dysarthria63 HP:0001260
9 gait disturbance63 HP:0001288
10 dysphagia63 HP:0002015
11 distal muscle weakness63 HP:0002460
12 limb muscle weakness63 HP:0003690
13 proximal muscle weakness63 HP:0003701
14 progressive ptosis63 HP:0007838
15 facial palsy63 HP:0010628
16 ophthalmoplegia53 Very frequent (99-80%)
17 ragged-red muscle fibers53 Very frequent (99-80%)
18 elevated serum creatine phosphokinase53 Very frequent (99-80%)
19 spondylolisthesis53 Very frequent (99-80%)
20 rimmed vacuoles53 Very frequent (99-80%)
21 abnormality of muscle fibers53 Very frequent (99-80%)

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

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 1204364-17-5702
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 1166404-86-41548943
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 122776
4Pharmaceutical SolutionsEarly Phase 17793
5Dermatologic AgentsEarly Phase 15674
6AntipruriticsEarly Phase 1864

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

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 Dystrophy26 24 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

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MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

35
Tongue, Skeletal muscle, Eye, Smooth muscle, Testes, Hypothalamus

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Oculopharyngeal Muscular Dystrophy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9BCL2, MYH7, MYOD1, PCOLCE, SMARCA4

Publications for Oculopharyngeal Muscular Dystrophy

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Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 237)
idTitleAuthorsYear
1
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. (28011929)
2016
2
Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. (27854203)
2016
3
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling. (27858728)
2015
4
Dropped-head in recessive oculopharyngeal muscular dystrophy. (26494409)
2015
5
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. (25283883)
2014
6
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. (24310666)
2013
7
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. (23453859)
2013
8
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. (23815790)
2013
9
Ocular motor deficits in oculopharyngeal muscular dystrophy. (22417239)
2012
10
Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy. (22249111)
2012
11
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein. (21854744)
2011
12
Oculopharyngeal muscular dystrophy associated with dementia. (22001477)
2011
13
Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy. (21204267)
2011
14
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation. (21742497)
2011
15
Swallow characteristics in patients with oculopharyngeal muscular dystrophy. (20699340)
2010
16
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report. (19175930)
2009
17
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. (18178579)
2008
18
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
19
Variability of the recessive oculopharyngeal muscular dystrophy phenotype. (17206657)
2007
20
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. (17110089)
2007
21
Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the fibrillation properties of the N-terminal domain of PABPN1. (17229142)
2007
22
Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy. (17418585)
2007
23
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. (16311254)
2006
24
Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy. (16421137)
2006
25
A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. (16642034)
2006
26
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody. (16319127)
2006
27
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. (16101680)
2005
28
A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene]. (16022469)
2005
29
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. (14988608)
2004
30
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. (12944420)
2003
31
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. (11595511)
2001
32
Oculopharyngeal muscular dystrophy: clinical and CT findings. (11679216)
2001
33
Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. (11304042)
2001
34
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. (11222452)
2001
35
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. (10680791)
2000
36
Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2. (11079550)
2000
37
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (9462747)
1998
38
AndrAc Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America. (9392008)
1997
39
Gradual onset of dysphagia: a study of patients with oculopharyngeal muscular dystrophy. (9294939)
1997
40
Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature. (8387769)
1993
41
Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews. (8186715)
1993
42
Childhood onset oculopharyngeal muscular dystrophy. (1764143)
1991
43
Oculopharyngeal muscular dystrophy in an Irish family. (2759812)
1989
44
Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. (2553230)
1989
45
Chronic cough as the presenting symptom of oculopharyngeal muscular dystrophy. (2924627)
1989
46
Oculopharyngeal muscular dystrophy as a cause of dysphagia in the elderly. (3944405)
1986
47
Familial late onset oculopharyngeal muscular dystrophy. (7279823)
1981
48
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. (7254232)
1981
49
Creatine phosphokinase MB band in oculopharyngeal muscular dystrophy. (450000)
1979
50
Oculopharyngeal Muscular Dystrophy. (20789767)
1963

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 expansionPathogenicChr na, -1: -1
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
19.4MYOD1, SMARCA4
29.2HNRNPA1, 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:00300169.9MYH7, MYOD1
2intracellular ribonucleoprotein complexGO:00305299.5HNRNPA1, HNRNPA2B1, PABPN1
3nucleoplasmGO:00056547.7HNRNPA1, HNRNPA2B1, MYOD1, PABPN1, RPS27A, SMARCA4

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

idNameGO IDScoreTop Affiliating Genes
1gene expressionGO:00104679.9HNRNPA1, HNRNPA2B1
2positive regulation of skeletal muscle fiber developmentGO:00487439.6BCL2, MYOD1
3negative regulation of G1/S transition of mitotic cell cycleGO:20001349.5BCL2, SMARCA4
4mRNA splicing, via spliceosomeGO:00003989.1HNRNPA1, HNRNPA2B1, PABPN1

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide bindingGO:00001669.5HNRNPA1, HNRNPA2B1, PABPN1
2transcription factor bindingGO:00081349.0BCL2, MYOD1, SMARCA4
3protein bindingGO:00055156.1BCL2, HNRNPA1, HNRNPA2B1, MYH7, MYOD1, PABPN1

Sources for Oculopharyngeal Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet