OPMD
MCID: OCL008
MIFTS: 53

Oculopharyngeal Muscular Dystrophy (OPMD)

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

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

MalaCards integrated aliases for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 57 12 73 25 20 43 58 72 36 29 13 6 15
Muscular Dystrophy, Oculopharyngeal 57 12 20 43 44 70
Opmd 57 25 20 43 58 72
Progressive Muscular Dystrophy, Oculopharyngeal Type 43
Dystrophy, Muscular, Oculopharyngeal 39
Dystrophy, Oculopharyngeal Muscular 43
Muscular Dystrophy Oculopharyngeal 54
Oculopharyngeal Dystrophy 43

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Apr-2021)
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:

31
oculopharyngeal muscular dystrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


GeneReviews:

25
Penetrance Decade-specific cumulative penetrance for individuals with a heterozygous gcn[13] pathogenic variant is [brais et al 1997, richard et al 2017]:...

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:11719
OMIM® 57 164300
KEGG 36 H00704
MeSH 44 D039141
NCIt 50 C84942
SNOMED-CT 67 77097004
ICD10 32 G71.09
MESH via Orphanet 45 D039141
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C0270952
Orphanet 58 ORPHA270
MedGen 41 C0270952
UMLS 70 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

MedlinePlus Genetics : 43 Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to impair vision, and in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing (dysphagia). Dysphagia begins with dry food, but over time, liquids can also become difficult to swallow. Dysphagia can cause saliva to accumulate and a wet-sounding voice. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition, choking, or a bacterial lung infection called aspiration pneumonia.Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the shoulders, upper legs, and hips (limb-girdle muscles). The weakness slowly gets worse, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance.Rarely, individuals have a severe form of oculopharyngeal muscular dystrophy with muscle weakness that begins before age 45, and have trouble walking independently by age 60. These individuals often also have disturbances in nerve function (neuropathy), a gradual loss of intellectual functioning (cognitive decline), and psychiatric symptoms such as depression or strongly held false beliefs (delusions).

MalaCards based summary : Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to muscular dystrophy and myopathy, and has symptoms including facial paresis An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways/superpathways are mRNA surveillance pathway and mRNA Splicing - Major Pathway. Affiliated tissues include eye, skeletal muscle and tongue, and related phenotypes are ptosis and myopathy

GARD : 20 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.

KEGG : 36 Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to be affected in some rare cases.

UniProtKB/Swiss-Prot : 72 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 : 73 Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally... more...

More information 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 top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 32.1 PABPN1 MYOD1 MYH7 HNRNPA2B1 HNRNPA1 BCL2L2-PABPN1
2 myopathy 30.8 RPS27A PYGM PABPN1 MYOD1 MYH7 HSPA4
3 dysphagia 11.5
4 swallowing disorders 11.2
5 distal myopathy with vocal cord weakness 11.2
6 ptosis 11.1
7 kearns-sayre syndrome 10.6
8 neuromuscular disease 10.6
9 aspiration pneumonia 10.5
10 inclusion body myositis 10.5
11 myositis 10.5
12 miyoshi muscular dystrophy 10.4
13 myasthenia gravis 10.4
14 muscular atrophy 10.4
15 mitochondrial myopathy 10.3
16 neuropathy 10.3
17 autosomal dominant distal myopathy 10.3 PABPN1 MYH7
18 multisystem proteinopathy 10.2 HNRNPC HNRNPA2B1 HNRNPA1
19 fragile x-associated tremor/ataxia syndrome 10.2 HNRNPC HNRNPA2B1 HNRNPA1
20 huntington disease 10.2
21 oculopharyngodistal myopathy 1 10.2
22 aging 10.2
23 chronic progressive external ophthalmoplegia 10.2
24 lagophthalmos 10.2
25 dementia 10.2
26 peripheral nervous system disease 10.2
27 progressive muscular dystrophy 10.2
28 muscle tissue disease 10.2 PABPN1 MYOD1 MYH7
29 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.2 HNRNPC HNRNPA2B1 HNRNPA1
30 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.2 HSPA4 HNRNPA2B1 HNRNPA1
31 muscular disease 10.2 PABPN1 MYOD1 MYH7
32 frontotemporal dementia 10.1 RPS27A PABPN1 HNRNPA2B1 HNRNPA1
33 oral cancer 10.1
34 spinocerebellar ataxia, autosomal recessive 16 10.1 RPS27A HSPA4
35 apnea, obstructive sleep 10.1
36 keratitis, hereditary 10.1
37 neuropathy, hereditary, with liability to pressure palsies 10.1
38 otitis media 10.1
39 strabismus 10.1
40 arachnoid cysts, intracranial 10.1
41 yemenite deaf-blind hypopigmentation syndrome 10.1
42 mitochondrial dna depletion syndrome 1 10.1
43 chorea, childhood-onset, with psychomotor retardation 10.1
44 sleep apnea 10.1
45 scoliosis 10.1
46 parkinsonism 10.1
47 choreatic disease 10.1
48 keratopathy 10.1
49 progressive muscular atrophy 10.1
50 aspiration pneumonitis 10.1

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



Diseases related to Oculopharyngeal Muscular Dystrophy

Symptoms & Phenotypes for Oculopharyngeal Muscular Dystrophy

Human phenotypes related to Oculopharyngeal Muscular Dystrophy:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
3 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
4 rimmed vacuoles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003805
5 ragged-red muscle fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003200
6 ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000602
7 spondylolisthesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003302
8 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
9 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
10 dysarthria 31 HP:0001260
11 gait disturbance 31 HP:0001288
12 dysphagia 31 HP:0002015
13 facial palsy 31 HP:0010628
14 limb muscle weakness 31 HP:0003690
15 abnormality of muscle fibers 58 Very frequent (99-80%)
16 distal muscle weakness 31 HP:0002460
17 proximal muscle weakness 31 HP:0003701
18 neck muscle weakness 31 HP:0000467
19 progressive ptosis 31 HP:0007838

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
dysarthria
dysphagia
pharyngeal muscle weakness
decreased gag reflex
proximal limb muscle weakness (occurs later)
more
Head And Neck Face:
facial muscle weakness
expressionless face

Abdomen Gastrointestinal:
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 (Updated 05-Apr-2021)

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

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

26 (show all 47)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.32 BCL2L2-PABPN1 PABPN1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.32 HSPA4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 10.32 BCL2L2-PABPN1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.32 BCL2L2-PABPN1 PABPN1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.32 BCL2L2-PABPN1 PABPN1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.32 RPS27A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.32 BCL2L2-PABPN1 HSPA4 PABPN1 RPS27A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 10.32 BCL2L2-PABPN1 PABPN1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 10.32 BCL2L2-PABPN1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.32 BCL2L2-PABPN1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.32 BCL2L2-PABPN1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.32 BCL2L2-PABPN1 PABPN1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.32 RPS27A
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 10.32 HSPA4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.32 HSPA4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.13 HSPA4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.13 BCL2 NRL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-108 10.13 HSPA4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.13 SNW1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.13 HSPA4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.13 NRL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-134 10.13 BCL2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.13 BCL2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.13 HSPA4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.13 BCL2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.13 BCL2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.13 NRL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.13 BCL2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.13 BCL2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.13 BCL2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.13 NRL
32 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.13 NRL
33 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.13 BCL2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.13 BCL2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.13 BCL2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.13 NRL
37 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.13 SNW1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.13 BCL2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-87 10.13 CHERP SNW1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.13 BCL2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.13 HSPA4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.13 SNW1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10.13 BCL2
44 Decreased influenza A H1N1 (A/WSN/33) virus numbers GR00195-A-2 9.5 MYOD1 RPS27A SNW1
45 Increased homologous recombination repair frequency GR00151-A-1 9.33 DNAJB4 HNRNPA2B1
46 Increased homologous recombination repair frequency GR00151-A-2 9.33 DNAJB4
47 Increased SMN2 exon 7 inclusion GR00254-A 8.8 CHERP HNRNPA1 HNRNPA2B1

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Pivotal, Multicenter, Open-label, Randomized Withdrawal, Non-Treatment Concurrent Control Study to Assess the Safety, Tolerability, and Efficacy of Cabaletta® in OPMD Patients Who Participated in Study BBCO-001 Completed NCT02328482 Phase 3 Tehalose 30gr
2 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Terminated NCT02878694 Phase 2, Phase 3
3 Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of Myoblasts Completed NCT00773227 Phase 2
4 Multi-Center, Dose-Escalation Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in OPMD Patients Completed NCT02015481 Phase 2 Cabaletta
5 A Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Trial of Trehalose for the Treatment of Withdrawn NCT04226924 Phase 2 Trehalose
6 Dysphagia in Oculopharyngeal Muscular Dystrophy. Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow up. Unknown status NCT01167439 Phase 1
7 Effect of Aerobic Training in Patients With Oculopharyngeal Muscular Dystrophy Unknown status NCT02158156
8 Determination of Accurate Screening Tools for Dysphagia in Oculopharyngeal Muscular Dystrophy Completed NCT02877784
9 An Exploratory Study of Skeletal Muscle Abnormalities in Patients With Mutations in Alpha-Tropomyosin and PABP2 Genes Completed NCT00001871
10 Pathology Analysis of OPMD Patient Myotomies Recruiting NCT03874910
11 Clinical Evaluation of the OncAlert RAPID; Impact on Decision-Making Active, not recruiting NCT03239834
12 Natural History Study of Oculopharyngeal Muscular Dystrophy Not yet recruiting NCT03161847
13 Interventional Study of Expiratory Muscle Strength Training as a Treatment in Neuromuscular Disorders Not yet recruiting NCT04009408

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:

# Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy 29 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

40
Eye, Skeletal Muscle, Tongue, Bone, Brain, Smooth Muscle, Breast

Publications for Oculopharyngeal Muscular Dystrophy

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50) (show all 699)
# Title Authors PMID Year
1
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. 61 54 57 6 25
9462747 1998
2
Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation. 61 54 57 6
16648376 2006
3
Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. 25 57 54 61
14729833 2004
4
Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. 54 25 57 61
11712939 2001
5
Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo. 25 57 61
19258344 2009
6
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. 57 25 61
16311254 2006
7
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. 25 61 57
11001936 2000
8
Oculopharyngeal muscular dystrophy. 61 25 57
10711989 1999
9
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. 61 25 57
7795598 1995
10
Nuclear inclusions in oculopharyngeal dystrophy. 61 25 57
6243839 1980
11
Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids. 61 57 25
13997067 1962
12
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. 61 57 54
15725589 2005
13
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. 54 57 61
12944420 2003
14
Oculopharyngeal and distal myopathy: a case study from Papua New Guinea. 25 57
6720743 1984
15
MUSCULAR DYSTROPHY. FEATURES OF OCULAR MYOPATHY, DISTAL MYOPATHY, AND MYOTONIC DYSTROPHY. 25 57
14120634 1964
16
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres. 61 57
20207626 2010
17
Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells. 54 61 25
16239242 2005
18
PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. 54 61 25
15755682 2005
19
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. 54 61 25
15645184 2005
20
(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families. 57 61
15694141 2005
21
Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy. 61 57
14645203 2004
22
Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy. 54 25 61
11796717 2002
23
Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene. 57 61
11087766 2000
24
Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene. 61 25 54
9392020 1997
25
Oculopharyngeal muscular dystrophy (OPMD)--report and genetic studies of an Australian kindred. 57 61
9084936 1997
26
Oculopharyngeal muscular dystrophy in two unrelated Japanese families. 57 61
8618681 1996
27
Ubiquitin and beta-amyloid-protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: an immunocytochemical study. 61 54 25
8268725 1993
28
Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. 57 61
1944407 1991
29
[Oculopharyngeal muscular dystrophy]. 57 61
6474119 1984
30
Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement. 61 57
7113658 1982
31
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. 57 61
7254232 1981
32
Oculopharyngeal muscular dystrophy. 57 61
13963574 1963
33
A study of impairments in oculopharyngeal muscular dystrophy. 61 25
32270505 2020
34
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy. 61 25
31769567 2020
35
Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy. 61 25
32804098 2020
36
Oculopharyngeal Muscular Dystrophy, an Often Misdiagnosed Neuromuscular Disorder: A Southern California Experience. 61 25
31743248 2019
37
Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1. 61 25
31294444 2019
38
Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy. 25 61
30649389 2019
39
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. 61 25
30530568 2019
40
RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement. 25 61
30831428 2019
41
A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD). 61 25
29725764 2018
42
Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy. 61 25
30006409 2018
43
Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy. 25 61
29144056 2018
44
Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing. 25 61
28977530 2017
45
Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. 25 61
28575395 2017
46
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. 61 25
28361972 2017
47
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. 61 25
28011929 2017
48
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing. 25 61
27507886 2016
49
The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments. 25 61
26948710 2016
50
Dropped-head in recessive oculopharyngeal muscular dystrophy. 61 25
26494409 2015

Variations for Oculopharyngeal Muscular Dystrophy

ClinVar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCL2L2-PABPN1 , PABPN1 NM_001199864.3(BCL2L2-PABPN1):c.433-709= Microsatellite Pathogenic 7367 GRCh37: 14:23790681-23790701
GRCh38: 14:23321472-23321492
2 BCL2L2-PABPN1 , PABPN1 NM_001199864.2(BCL2L2-PABPN1):c.433-677G>C SNV Pathogenic 7368 rs104894466 GRCh37: 14:23790713-23790713
GRCh38: 14:23321504-23321504
3 BCL2L2-PABPN1 , PABPN1 NM_001199864.2(BCL2L2-PABPN1):c.433-697_433-686dup Duplication Pathogenic 803008 rs1594987281 GRCh37: 14:23790690-23790691
GRCh38: 14:23321481-23321482
4 BCL2L2-PABPN1 , PABPN1 NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) Microsatellite Pathogenic 503634 rs193922941 GRCh37: 14:23790690-23790701
GRCh38: 14:23321471-23321472
5 PABPN1 NM_004643.3:c.3GGC[(8_13)] Microsatellite Pathogenic 978416 GRCh37:
GRCh38:
6 BCL2L2-PABPN1 , PABPN1 NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) Microsatellite Pathogenic/Likely pathogenic 279930 rs193922941 GRCh37: 14:23790680-23790681
GRCh38: 14:23321471-23321472

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 KEGG:

36
# Name Kegg Source Accession
1 mRNA surveillance pathway hsa03015

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 SNW1 PABPN1 HNRNPC HNRNPAB HNRNPA2B1 HNRNPA1
2
Show member pathways
10.25 HNRNPC HNRNPAB HNRNPA2B1 HNRNPA1

GO Terms for Oculopharyngeal Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.2 SNW1 RPS27A PYGM PABPN1 NRL MYOD1
2 extracellular exosome GO:0070062 9.97 RPS27A PYGM PCOLCE HSPA4 HNRNPC HNRNPA2B1
3 nucleoplasm GO:0005654 9.73 SNW1 RPS27A PABPN1 NRL MYOD1 HNRNPC
4 spliceosomal complex GO:0005681 9.56 SNW1 HNRNPC HNRNPA2B1 HNRNPA1
5 ribonucleoprotein complex GO:1990904 9.46 PABPN1 HNRNPAB HNRNPA2B1 HNRNPA1
6 catalytic step 2 spliceosome GO:0071013 8.92 SNW1 HNRNPC HNRNPA2B1 HNRNPA1

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

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.71 SNW1 HNRNPC HNRNPA2B1 HNRNPA1
2 mRNA processing GO:0006397 9.65 SNW1 PABPN1 HNRNPC HNRNPA2B1 HNRNPA1
3 response to unfolded protein GO:0006986 9.5 HSPA4 DNAJB4 DNAJA1
4 negative regulation of telomere maintenance via telomerase GO:0032211 9.43 HNRNPC HNRNPA1
5 positive regulation of skeletal muscle fiber development GO:0048743 9.37 MYOD1 BCL2
6 RNA metabolic process GO:0016070 9.33 HNRNPC HNRNPA2B1 HNRNPA1
7 mRNA splicing, via spliceosome GO:0000398 9.1 SNW1 PABPN1 HNRNPC HNRNPA2B1 HNRNPA1 CHERP
8 positive regulation of polynucleotide adenylyltransferase activity GO:1904247 8.96 PABPN1 BCL2L2-PABPN1

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.62 RPS27A MYOD1 DNAJA1 BCL2
2 nucleic acid binding GO:0003676 9.5 PABPN1 HNRNPC HNRNPAB HNRNPA2B1 HNRNPA1 CHERP
3 ATPase activator activity GO:0001671 9.37 DNAJB4 DNAJA1
4 RNA binding GO:0003723 9.28 SNW1 RPS27A PABPN1 HNRNPC HNRNPAB HNRNPA2B1
5 G-rich strand telomeric DNA binding GO:0098505 9.26 HNRNPA2B1 HNRNPA1
6 N6-methyladenosine-containing RNA binding GO:1990247 9.16 HNRNPC HNRNPA2B1

Sources for Oculopharyngeal Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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