MCID: OCL008
MIFTS: 47

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:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 49 10 11 21 45 22 23 12 51 67
Opmd 21 45 22 23 51 67
Muscular Dystrophy, Oculopharyngeal 10 45 23 36 65
 
Muscular Dystrophy Oculopharyngeal 47 24
Progressive Muscular Dystrophy, Oculopharyngeal Type 23
Oculopharyngeal Dystrophy 23

Characteristics:

Orphanet epidemiological data:

51
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult

HPO:

61
oculopharyngeal muscular dystrophy:
Onset and clinical course: progressive, adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 164300
Disease Ontology10 DOID:11719
ICD1027 G71.0
MeSH36 D039141
NCIt42 C84942
SNOMED-CT59 77097004
Orphanet51 270
UMLS via Orphanet66 C0270952
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 D039141
MedGen34 C0270952
UMLS65 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

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Genetics Home Reference:23 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.

MalaCards based summary: Oculopharyngeal Muscular Dystrophy, also known as opmd, is related to muscular dystrophy and dysphagia, and has symptoms including skeletal muscle atrophy, myopathy 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 is Telomere Extension by Telomerase. Affiliated tissues include tongue, skeletal muscle and eye.

NIH Rare Diseases:45 Oculopharyngeal muscular dystrophy (opmd) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. this condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. there are two types of opmd, which are 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. last updated: 5/2/2012

UniProtKB/Swiss-Prot:67 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:68 Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominantneuromuscular disease or autosomal... more...

Description from OMIM:49 164300

GeneReviews summary 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

Symptoms:

 51 (show all 9)
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • ptosis
  • anomaly of the pharynx/pharyngeal anomaly
  • myopathy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • expressionless face/amimia

HPO human phenotypes related to Oculopharyngeal Muscular Dystrophy:

(show all 16)
id Description Frequency HPO Source Accession
1 skeletal muscle atrophy hallmark (90%) HP:0003202
2 myopathy hallmark (90%) HP:0003198
3 abnormality of the pharynx hallmark (90%) HP:0000600
4 ophthalmoparesis hallmark (90%) HP:0000597
5 ptosis hallmark (90%) HP:0000508
6 mask-like facies occasional (7.5%) HP:0000298
7 facial palsy HP:0010628
8 progressive ptosis HP:0007838
9 proximal muscle weakness HP:0003701
10 limb muscle weakness HP:0003690
11 distal muscle weakness HP:0002460
12 dysphagia HP:0002015
13 gait disturbance HP:0001288
14 dysarthria HP:0001260
15 neck muscle weakness HP:0000467
16 mask-like facies HP:0000298

UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:


facial paresis

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Continuation Protocol to Protocol BBCO-001Enrolling by invitationNCT02328482Phase 3
2Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of MyoblastsCompletedNCT00773227Phase 2
3Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) PatientsCompletedNCT02015481Phase 2
4Dysphagia in Oculopharyngeal Muscular Dystrophy (OPMD)- Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow upRecruitingNCT01167439Phase 1
5Study of Muscle Abnormalities in Patients With Specific Genetic MutationsCompletedNCT00001871
6Effect of Aerobic Training in Patients With Oculopharyngeal Muscular DystrophyRecruitingNCT02158156

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 Dystrophy22 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

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MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

33
Tongue, Skeletal muscle, Eye, Prostate, Heart, Lung, Liver

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Oculopharyngeal Muscular Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Oculopharyngeal Muscular Dystrophy

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Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 233)
idTitleAuthorsYear
1
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. (26616227)
2015
2
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. (25816335)
2015
3
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. (25283883)
2014
4
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. (24611576)
2014
5
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? (24449978)
2013
6
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
7
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. (24310666)
2013
8
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. (23453859)
2013
9
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. (23815790)
2013
10
Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland. (21602480)
2012
11
Oculopharyngeal muscular dystrophy --an under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature. (22817818)
2012
12
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein. (21854744)
2011
13
Oculopharyngeal muscular dystrophy associated with dementia. (22001477)
2011
14
Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy. (21204267)
2011
15
Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: lack of evidence for an associated peripheral neuropathy. (20181517)
2010
16
Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy. (20519718)
2010
17
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report. (19175930)
2009
18
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. (18178579)
2008
19
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
20
Variability of the recessive oculopharyngeal muscular dystrophy phenotype. (17206657)
2007
21
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. (17110089)
2007
22
Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. (16619122)
2006
23
A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy. (16481821)
2006
24
Animal model of oculopharyngeal muscular dystrophy. (16550922)
2005
25
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. (16101680)
2005
26
Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. (14976164)
2004
27
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
28
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. (12944420)
2003
29
Proximal weakness and exercise-induced pain as initial symptom of oculopharyngeal muscular dystrophy]. (11519209)
2001
30
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. (11595511)
2001
31
Oculopharyngeal muscular dystrophy: clinical and CT findings. (11679216)
2001
32
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. (10680791)
2000
33
Oculopharyngeal muscular dystrophy. (10711989)
1999
34
No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (9678711)
1998
35
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (9462747)
1998
36
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. (9392019)
1997
37
A case of oculopharyngeal muscular dystrophy in a Bulgarian Jew. (8409167)
1993
38
Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature. (8387769)
1993
39
Childhood onset oculopharyngeal muscular dystrophy. (1764143)
1991
40
Oculopharyngeal muscular dystrophy in an Irish family. (2759812)
1989
41
Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. (2553230)
1989
42
Chronic cough as the presenting symptom of oculopharyngeal muscular dystrophy. (2924627)
1989
43
Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. (3007900)
1986
44
Premortem examination of the cricopharyngeus muscle in oculopharyngeal muscular dystrophy: inflammatory cells and tubular aggregates--case report. (3935975)
1985
45
Familial late onset oculopharyngeal muscular dystrophy. (7279823)
1981
46
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. (7254232)
1981
47
Oropharyngeal dysphagia in patients with oculopharyngeal muscular dystrophy. (679079)
1978
48
Oculopharyngeal muscular dystrophy with tuberculous meningitis (a case report). (721245)
1978
49
Oculopharyngeal muscular dystrophy treated by inferior constrictor myotomy. (5097831)
1971
50

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
1NM_004643.3(PABPN1): c.4_6GCG(6) (p.Ala2_Ala7=)NT expansionPathogenicGRCh37Chr 14, 23790682: 23790684
2PABPN1PABPN1, (GCG)n EXPANSION, (GCG)7NT expansionPathogenic
3NM_004643.3(PABPN1): c.35G> C (p.Gly12Ala)single nucleotide variantPathogenicrs104894466GRCh37Chr 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
1
Show member pathways
9.4HNRNPA1, HNRNPA2B1

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
1catalytic step 2 spliceosomeGO:00710139.4HNRNPA1, HNRNPA2B1

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.8BCL2, RPS27A
2cellular response to hypoxiaGO:00714569.5BCL2, RPS27A
3negative regulation of cell growthGO:00303089.3BCL2, SMARCA4
4negative regulation of G1/S transition of mitotic cell cycleGO:20001349.1BCL2, SMARCA4
5mRNA splicing, via spliceosomeGO:00003989.1HNRNPA1, HNRNPA2B1, PABPN1

Sources for Oculopharyngeal Muscular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet