OPMD
MCID: OCL008
MIFTS: 64

Oculopharyngeal Muscular Dystrophy (OPMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases categories
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Summaries for Oculopharyngeal Muscular Dystrophy

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Genetics Home Reference:21 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 muscular dystrophy, oculopharyngeal, is related to dysphagia and inclusion body myositis, and has symptoms including ophthalmoplegia/ophthalmoparesis/oculomotor palsy, ptosis and anomaly of the pharynx/pharyngeal anomaly. An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (poly(A) binding protein, nuclear 1), and among its related pathways are Translational Control and mRNA Splicing - Major Pathway. The compounds thioflavine s and ladostigil have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and smooth muscle.

NIH Rare Diseases:42 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

Wikipedia:65 Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominantneuromuscular disease or autosomal... more...

Description from OMIM:46 164300

GeneReviews summary for opmd

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Oculopharyngeal Muscular Dystrophy, Aliases & Descriptions:

Name: Oculopharyngeal Muscular Dystrophy 8 9 19 42 21 46 48
Muscular Dystrophy, Oculopharyngeal 8 42 20 22 21 62
Opmd 19 42 21 48
 
Progressive Muscular Dystrophy, Oculopharyngeal Type 21
Muscular Dystrophy Oculopharyngeal 44
Oculopharyngeal Dystrophy 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:11719
NCIt39 C84942
OMIM46 164300
MeSH34 D039141
SNOMED-CT57 77097004
MESH via Orphanet35 D039141
ICD10 via Orphanet26 G71.0
UMLS via Orphanet63 C0270952

Related Diseases for Oculopharyngeal Muscular Dystrophy

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Diseases related to Oculopharyngeal Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1dysphagia32.1PABPN1
2inclusion body myositis31.4APP
3myositis31.1APP, RPS27A, MYOD1
4myopathy31.0RPS27A, MYOD1, MYH7, PABPN1, APP
5dementia30.3RPS27A, HSPA4, APP
6muscular dystrophy11.5
7esophagitis10.6
8pharyngitis10.5
9oculopharyngodistal myopathy10.5
10rhabdoid tumor10.5MYOD1
11huntington's disease10.5TGM2
12neuropathy10.4
13spinocerebellar degeneration10.4RPS27A, CHERP
14machado-joseph disease10.4RPS27A, CHERP
15myopathy congenital10.3RPS27A, MYH7
16myasthenia gravis10.3
17muscular atrophy10.3
18obstructive sleep apnea10.3
19arachnoiditis10.3
20neuronitis10.3
21meningitis10.3
22ophthalmoplegia10.3
23peripheral neuropathy10.3
24sleep apnea10.3
25hereditary neuropathy with liability to pressure palsies10.3
26arachnoid cysts10.3
27hereditary neuropathy with liability to pressure palsy10.3
28tuberculous meningitis10.3
29hereditary neuropathies10.3
30swallowing disorders10.3
31spinocerebellar ataxia type 710.3CHERP, HSPA4
32transient cerebral ischemia10.3RPS27A, HSPA4
33spinocerebellar ataxia10.3RPS27A, CHERP
34frontotemporal dementia10.3APP, RPS27A
35neuroaxonal dystrophy, infantile10.3RPS27A, APP
36hemorrhage, intracerebral10.2RPS27A, APP
37progressive supranuclear palsy10.2APP, RPS27A
38lewy body dementia10.2RPS27A, APP
39tauopathy10.2RPS27A, APP
40cataract10.1TGM2, HSPA4, RPS27A
41creutzfeldt-jakob disease10.1RPS27A, APP
42vascular dementia10.1RPS27A, TGM2, APP
43amyotrophic lateral sclerosis type 1410.1APP, TGM2, RPS27A
44pick's disease10.0RPS27A, APP
45parkinson's disease10.0CHERP, RPS27A, APP, TGM2
46brain ischemia10.0APP, HSPA4
47amyloid tumor10.0RPS27A, APP
48cervical cancer9.8HSPA4, RPS27A, BCL2
49retinoblastoma9.6MYOD1, MYH7, SNW1, BCL2, SMARCA4, RPS27A
50lung cancer9.6HNRNPC, BCL2, TGM2, SMARCA4, HNRNPA2B1

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:

48 (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 19)
id Description Frequency HPO Source Accession
1 ptosis hallmark (90%) HP:0000508
2 ophthalmoparesis hallmark (90%) HP:0000597
3 abnormality of the pharynx hallmark (90%) HP:0000600
4 myopathy hallmark (90%) HP:0003198
5 amyotrophy hallmark (90%) HP:0003202
6 mask-like facies occasional (7.5%) HP:0000298
7 autosomal dominant inheritance HP:0000006
8 mask-like facies HP:0000298
9 neck muscle weakness HP:0000467
10 dysarthria HP:0001260
11 gait disturbance HP:0001288
12 dysphagia HP:0002015
13 distal muscle weakness HP:0002460
14 adult onset HP:0003581
15 progressive disorder HP:0003676
16 limb muscle weakness HP:0003690
17 proximal muscle weakness HP:0003701
18 progressive ptosis HP:0007838
19 facial palsy HP:0010628

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

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Drug clinical trials:

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Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy

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 Dystrophy20 22 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

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MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

32
Tongue, Eye, Smooth muscle, Skeletal muscle, Testes, Hypothalamus

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

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Publications for Oculopharyngeal Muscular Dystrophy

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Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. (25283883)
2014
2
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. (24611576)
2014
3
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? (24449978)
2013
4
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
5
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong. (24310666)
2013
6
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis. (23453859)
2013
7
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. (23815790)
2013
8
Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland. (21602480)
2012
9
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
10
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein. (21854744)
2011
11
Oculopharyngeal muscular dystrophy associated with dementia. (22001477)
2011
12
Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy. (21204267)
2011
13
Clinical and electrophysiologic features of oculopharyngeal muscular dystrophy: lack of evidence for an associated peripheral neuropathy. (20181517)
2010
14
Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy. (20519718)
2010
15
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report. (19175930)
2009
16
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. (18178579)
2008
17
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
18
Variability of the recessive oculopharyngeal muscular dystrophy phenotype. (17206657)
2007
19
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. (17110089)
2007
20
Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. (16619122)
2006
21
A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy. (16481821)
2006
22
Animal model of oculopharyngeal muscular dystrophy. (16550922)
2005
23
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. (16101680)
2005
24
A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene]. (16022469)
2005
25
Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. (14976164)
2004
26
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
27
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. (12944420)
2003
28
Proximal weakness and exercise-induced pain as initial symptom of oculopharyngeal muscular dystrophy]. (11519209)
2001
29
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. (11595511)
2001
30
Oculopharyngeal muscular dystrophy: clinical and CT findings. (11679216)
2001
31
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. (10680791)
2000
32
Oculopharyngeal muscular dystrophy. (10711989)
1999
33
No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (9678711)
1998
34
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (9462747)
1998
35
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. (9392019)
1997
36
A case of oculopharyngeal muscular dystrophy in a Bulgarian Jew. (8409167)
1993
37
Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature. (8387769)
1993
38
Childhood onset oculopharyngeal muscular dystrophy. (1764143)
1991
39
Oculopharyngeal muscular dystrophy in an Irish family. (2759812)
1989
40
Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. (2553230)
1989
41
Chronic cough as the presenting symptom of oculopharyngeal muscular dystrophy. (2924627)
1989
42
Inferior constrictor myotomy in oculopharyngeal muscular dystrophy: clinical and manometric evaluation. (3385870)
1988
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
Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids. (13997067)
1962

Variations for Oculopharyngeal Muscular Dystrophy

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Clinvar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

6
id Gene Name Type Significance SNP ID Assembly Location
1PABPN1PABPN1, (GCG)n EXPANSION, (GCG)7NT expansionPathogenic
2NM_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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Expression patterns in normal tissues for genes affiliated with Oculopharyngeal Muscular Dystrophy

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2HNRNPA1, SMARCA4, HNRNPC
2
Show member pathways
9.0HNRNPA2B1, HNRNPA1, HNRNPC, PABPN1
38.4CHERP, SNW1, HNRNPC, HNRNPA1
4
Show member pathways
8.2HNRNPA1, SNW1, PABPN1, HNRNPA2B1, RPS27A, HNRNPC

Compounds for genes affiliated with Oculopharyngeal Muscular Dystrophy

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Compounds related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.4RPS27A, APP
2ladostigil4410.3BCL2, APP
3rasagiline44 1111.2APP, BCL2
4sulindac sulfide4410.1APP, BCL2
5thymidylate4410.0APP, RPS27A, BCL2
6bryostatin 14410.0RPS27A, BCL2
7valine449.9RPS27A, MYH7, APP
8rotenone449.9HSPA4, RPS27A, BCL2
94-hydroxynonenal44 2410.8HSPA4, APP, RPS27A
10chloroquine44 2 50 28 1113.8RPS27A, APP, HSPA4
113-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.8HSPA4, APP, BCL2
12adpribose449.8BCL2, RPS27A, HSPA4
13iodoacetamide449.8HSPA4, TGM2
14ibuprofen44 28 50 24 1113.8HSPA4, APP, BCL2
15c2ceramide449.8BCL2, APP, HSPA4
16camptothecin44 61 1111.7BCL2, RPS27A, HSPA4
17isoproterenol44 1110.7HSPA4, APP, MYH7
18geldanamycin44 50 61 1112.7HSPA4, MYOD1, RPS27A
19arsenite44 2410.6BCL2, RPS27A, HSPA4
20curcumin449.6BCL2, RPS27A, APP, HSPA4
21lysine449.6SMARCA4, TGM2, MYOD1, RPS27A
22thapsigargin44 6110.6HSPA4, APP, TGM2, BCL2
23doxorubicin44 50 1111.6BCL2, RPS27A, TGM2, HSPA4
24bromodeoxyuridine449.6MYOD1, MYH7, HSPA4
25aspirin44 50 28 2412.5RPS27A, APP, HSPA4
26mg 13244 6110.5HSPA4, MYOD1, RPS27A, BCL2
27glycerol44 24 1111.4RPS27A, MYH7, HSPA4
28acetylcholine44 50 28 24 1113.4HSPA4, APP, MYOD1, RPS27A
29guanine44 24 1111.4MYH7, MYOD1, RPS27A
30paraffin449.4BCL2, RPS27A, MYOD1, HSPA4
31glutamate449.3HSPA4, APP, TGM2, MYH7, RPS27A
32cysteine449.3SMARCA4, APP, TGM2, MYH7, MYOD1, RPS27A
33lactacystin449.2HSPA4, APP, MYOD1, RPS27A, BCL2
34butyrate449.2HSPA4, APP, MYOD1, RPS27A, BCL2
35actinomycin d449.2HSPA4, APP, MYOD1, RPS27A, BCL2
36creatinine449.1HSPA4, APP, PABPN1, MYH7, MYOD1, RPS27A
37vegf449.1HSPA4, APP, MYOD1, RPS27A, BCL2
38alanine449.1HSPA4, APP, TGM2, PABPN1, MYOD1, RPS27A
39atp44 2810.0SMARCA4, HSPA4, TGM2, MYH7, MYOD1, RPS27A
40retinoic acid44 2410.0HSPA4, APP, TGM2, MYOD1, RPS27A, BCL2
41glutamine448.9RPS27A, CHERP, MYH7, PABPN1, TGM2, APP
42testosterone44 61 24 1111.9SMARCA4, HSPA4, APP, MYOD1, CHERP, RPS27A
43adenylate448.9HSPA4, APP, PABPN1, RPS27A, HNRNPC
44h2o2448.7HSPA4, APP, RPS27A, BCL2, HNRNPC
45serine448.7HSPA4, APP, TGM2, MYH7, MYOD1, RPS27A
46arginine448.6SMARCA4, APP, PABPN1, MYH7, MYOD1, RPS27A

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

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Cellular components related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribonucleoprotein complexGO:0305299.7PABPN1, HNRNPA1, HNRNPA2B1
2catalytic step 2 spliceosomeGO:0710138.7HNRNPA2B1, HNRNPA1, HNRNPC, SNW1
3spliceosomal complexGO:0056818.7SNW1, HNRNPC, HNRNPA1, HNRNPA2B1
4nucleolusGO:0057308.0MYH7, DNAJB4, SNW1, HNRNPC, HNRNPA1, SMARCA4
5nucleoplasmGO:0056547.8PABPN1, MYOD1, SNW1, RPS27A, HNRNPC, HNRNPA1
6cytoplasmGO:0057377.6USP4, APP, PABPN1, MYH7, CHERP, DNAJB4
7extracellular vesicular exosomeGO:0700627.5HSPA4, APP, TGM2, DNAJA1, RPS27A, PCOLCE
8nucleusGO:0056346.6SMARCA4, USP4, PABPN1, MYH7, MYOD1, DNAJB4

Biological processes related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.9APP, RPS27A, BCL2
2regulation of protein stabilityGO:0316479.7BCL2, USP4
3positive regulation by host of viral transcriptionGO:0439239.7SNW1, SMARCA4
4negative regulation of G1/S transition of mitotic cell cycleGO:20001349.6BCL2, SMARCA4
5Notch signaling pathwayGO:0072199.3RPS27A, SNW1, APP
6response to unfolded proteinGO:0069869.2DNAJB4, DNAJA1, HSPA4
7RNA splicingGO:0083809.1PABPN1, HNRNPC, HNRNPA1, HNRNPA2B1
8positive regulation of transcription from RNA polymerase II promoterGO:0459448.7SMARCA4, APP, MYOD1, SNW1, RPS27A
9mRNA splicing, via spliceosomeGO:0003988.6HNRNPA2B1, HNRNPA1, HNRNPC, SNW1, PABPN1
10gene expressionGO:0104678.4PABPN1, SNW1, RPS27A, HNRNPC, HNRNPA1, HNRNPA2B1

Molecular functions related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1peptidase activator activityGO:01650410.0PCOLCE, APP
2nuclear hormone receptor bindingGO:0352579.3MYOD1, SNW1
3nucleotide bindingGO:0001669.0PABPN1, HNRNPC, HNRNPA1, HNRNPA2B1
4RNA bindingGO:0037238.7HNRNPA2B1, HNRNPA1, HNRNPC, PABPN1
5identical protein bindingGO:0428028.6HNRNPC, BCL2, APP, USP4
6poly(A) RNA bindingGO:0448227.9PABPN1, CHERP, SNW1, RPS27A, HNRNPC, HNRNPA1
7protein bindingGO:0055154.9HNRNPA2B1, SMARCA4, USP4, APP, TGM2, PABPN1

Products for genes affiliated with Oculopharyngeal Muscular Dystrophy

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Sources for Oculopharyngeal Muscular Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet