MCID: OCL008
MIFTS: 64

Oculopharyngeal Muscular Dystrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases categories

Summaries for Oculopharyngeal Muscular Dystrophy

About this section


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 muscular dystrophy, oculopharyngeal, is related to dysphagia and 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 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:43 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:47 164300

GeneReviews summary for opmd

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

About this section
Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 23Genetics Home Reference, 49Orphanet, 22GeneTests, 62UMLS, 45Novoseek, 24GTR, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Oculopharyngeal Muscular Dystrophy, Aliases & Descriptions:

Name: Oculopharyngeal Muscular Dystrophy 47 10 11 21 43 23 49
Muscular Dystrophy, Oculopharyngeal 10 43 22 23 62
Opmd 21 43 23 49
 
Muscular Dystrophy Oculopharyngeal 45 24
Progressive Muscular Dystrophy, Oculopharyngeal Type 23
Oculopharyngeal Dystrophy 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult


External Ids:

OMIM47 164300
Disease Ontology10 DOID:11719
MeSH35 D039141
NCIt40 C84942
SNOMED-CT57 77097004
Orphanet49 270
MESH via Orphanet36 D039141
ICD10 via Orphanet28 G71.0
UMLS via Orphanet63 C0270952

Related Diseases for Oculopharyngeal Muscular Dystrophy

About this section

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
1dysphagia31.4PABPN1
2myopathy31.0RPS27A, MYOD1, MYH7, PABPN1, APP
3inclusion body myositis30.9APP
4myositis30.9APP, RPS27A, MYOD1
5dementia30.4RPS27A, HSPA4, APP
6muscular dystrophy11.4
7esophagitis10.6
8ptosis10.6
9pharyngitis10.5
10neuropathy10.4
11oculopharyngodistal myopathy10.4
12myasthenia gravis10.3
13obstructive sleep apnea10.3
14neuronitis10.3
15muscular atrophy10.3
16arachnoiditis10.3
17meningitis10.3
18ophthalmoplegia10.3
19peripheral neuropathy10.3
20sleep apnea10.3
21arachnoid cysts10.3
22hereditary neuropathy with liability to pressure palsy10.3
23tuberculous meningitis10.3
24hereditary neuropathies10.3
25swallowing disorders10.3
26rhabdoid tumor10.1MYOD1
27huntington disease10.1TGM2
28spinocerebellar degeneration10.0RPS27A, CHERP
29machado-joseph disease10.0RPS27A, CHERP
30myopathy congenital10.0RPS27A, MYH7
31spinocerebellar ataxia 710.0CHERP, HSPA4
32transient cerebral ischemia10.0RPS27A, HSPA4
33spinocerebellar ataxia10.0RPS27A, CHERP
34dementia, frontotemporal10.0APP, RPS27A
35infantile neuroaxonal dystrophy 110.0RPS27A, APP
36hemorrhage, intracerebral10.0RPS27A, APP
37supranuclear palsy, progressive10.0APP, RPS27A
38dementia, lewy body10.0RPS27A, APP
39tauopathy10.0RPS27A, APP
40cataract10.0TGM2, HSPA4, RPS27A
41creutzfeldt-jakob disease10.0RPS27A, APP
42vascular dementia10.0RPS27A, TGM2, APP
43amyotrophic lateral sclerosis 110.0APP, TGM2, RPS27A
44pick disease10.0RPS27A, APP
45parkinson disease, late-onset10.0CHERP, RPS27A, APP, TGM2
46brain ischemia10.0APP, HSPA4
47amyloid tumor10.0RPS27A, APP
48cervical cancer, somatic10.0HSPA4, RPS27A, BCL2
49retinoblastoma9.9MYOD1, MYH7, SNW1, BCL2, SMARCA4, RPS27A
50lung cancer9.9HNRNPC, 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

About this section

Symptoms by clinical synopsis from OMIM:

164300

Clinical features from OMIM:

164300

Symptoms:

 49 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Oculopharyngeal Muscular Dystrophy

Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy

Genetic Tests for Oculopharyngeal Muscular Dystrophy

About this section

Genetic tests related to Oculopharyngeal Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy22 24 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

About this section

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

33
Tongue, Eye, Smooth muscle, Skeletal muscle, Testes, Hypothalamus

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

About this section

Publications for Oculopharyngeal Muscular Dystrophy

About this section

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 222)
idTitleAuthorsYear
1
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. (25816335)
2015
2
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a chinese population. (25283883)
2014
3
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy. (24611576)
2014
4
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? (24449978)
2013
5
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
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
Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland. (21602480)
2012
10
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
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
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

About this section

Clinvar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PABPN1NM_004643.3(PABPN1): c.4_6GCG(6) (p.Ala2_Ala7=)NT expansionPathogenicGRCh37Chr 14, 23790682: 23790699
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

About this section

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

Pathways for genes affiliated with Oculopharyngeal Muscular Dystrophy

About this section

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

About this section

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

(show all 46)
idCompoundScoreTop Affiliating Genes
1thioflavine s4510.4RPS27A, APP
2ladostigil4510.3APP, BCL2
3rasagiline45 1311.2APP, BCL2
4sulindac sulfide4510.1BCL2, APP
5thymidylate4510.0BCL2, RPS27A, APP
6bryostatin 14510.0RPS27A, BCL2
7valine459.9RPS27A, MYH7, APP
8rotenone459.9BCL2, RPS27A, HSPA4
94-hydroxynonenal45 2610.8HSPA4, RPS27A, APP
10chloroquine45 3 51 30 1313.8APP, RPS27A, HSPA4
113-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.8BCL2, APP, HSPA4
12adpribose459.8HSPA4, RPS27A, BCL2
13iodoacetamide459.8TGM2, HSPA4
14ibuprofen45 30 51 26 1313.8BCL2, HSPA4, APP
15c2ceramide459.8HSPA4, BCL2, APP
16camptothecin45 61 1311.7BCL2, RPS27A, HSPA4
17isoproterenol45 1310.7APP, MYH7, HSPA4
18geldanamycin45 51 61 1312.7HSPA4, MYOD1, RPS27A
19arsenite45 2610.6HSPA4, BCL2, RPS27A
20curcumin459.6RPS27A, HSPA4, BCL2, APP
21lysine459.6TGM2, SMARCA4, MYOD1, RPS27A
22thapsigargin45 6110.6BCL2, TGM2, APP, HSPA4
23doxorubicin45 51 1311.6TGM2, HSPA4, RPS27A, BCL2
24bromodeoxyuridine459.6HSPA4, MYH7, MYOD1
25aspirin45 51 30 2612.5HSPA4, APP, RPS27A
26mg 13245 6110.5BCL2, MYOD1, HSPA4, RPS27A
27glycerol45 26 1311.4RPS27A, HSPA4, MYH7
28acetylcholine45 51 30 26 1313.4RPS27A, MYOD1, APP, HSPA4
29guanine45 26 1311.4MYH7, RPS27A, MYOD1
30paraffin459.4BCL2, HSPA4, MYOD1, RPS27A
31glutamate459.3MYH7, RPS27A, TGM2, HSPA4, APP
32cysteine459.3RPS27A, SMARCA4, APP, TGM2, MYH7, MYOD1
33lactacystin459.2HSPA4, RPS27A, MYOD1, BCL2, APP
34butyrate459.2MYOD1, RPS27A, BCL2, APP, HSPA4
35actinomycin d459.2APP, BCL2, HSPA4, RPS27A, MYOD1
36creatinine459.1RPS27A, MYOD1, MYH7, PABPN1, APP, HSPA4
37vegf459.1HSPA4, APP, MYOD1, BCL2, RPS27A
38alanine459.1RPS27A, PABPN1, MYOD1, TGM2, APP, HSPA4
39atp45 3010.0MYOD1, MYH7, TGM2, HSPA4, SMARCA4, RPS27A
40retinoic acid45 2610.0MYOD1, HSPA4, TGM2, RPS27A, BCL2, APP
41glutamine458.9HSPA4, APP, TGM2, MYH7, CHERP, RPS27A
42testosterone45 61 26 1311.9MYOD1, CHERP, APP, HSPA4, SMARCA4, RPS27A
43adenylate458.9HSPA4, HNRNPC, APP, RPS27A, PABPN1
44h2o2458.7HSPA4, HNRNPC, BCL2, APP, RPS27A
45serine458.7MYOD1, TGM2, HSPA4, RPS27A, BCL2, MYH7
46arginine458.6PABPN1, SMARCA4, RPS27A, MYH7, APP, MYOD1

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1ribonucleoprotein complexGO:00305299.7HNRNPA1, PABPN1, HNRNPA2B1
2catalytic step 2 spliceosomeGO:00710138.7HNRNPC, HNRNPA1, HNRNPA2B1, SNW1
3spliceosomal complexGO:00056818.7HNRNPA2B1, HNRNPA1, HNRNPC, SNW1
4nucleolusGO:00057308.0MYH7, HNRNPA1, HNRNPC, SMARCA4, SNW1, DNAJB4
5nucleoplasmGO:00056547.8PABPN1, MYOD1, SNW1, RPS27A, HNRNPC, HNRNPA1
6cytoplasmGO:00057377.6USP4, HNRNPA2B1, HNRNPA1, BCL2, CHERP, DNAJB4
7extracellular vesicular exosomeGO:00700627.5HNRNPA1, PCOLCE, RPS27A, DNAJA1, TGM2, APP
8nucleusGO:00056346.6MYH7, PABPN1, SMARCA4, USP4, 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:00358729.9BCL2, APP, RPS27A
2regulation of protein stabilityGO:00316479.7USP4, BCL2
3positive regulation by host of viral transcriptionGO:00439239.7SNW1, SMARCA4
4negative regulation of G1/S transition of mitotic cell cycleGO:020001349.6BCL2, SMARCA4
5Notch signaling pathwayGO:00072199.3RPS27A, APP, SNW1
6response to unfolded proteinGO:00069869.2DNAJB4, DNAJA1, HSPA4
7RNA splicingGO:00083809.1HNRNPA2B1, PABPN1, HNRNPA1, HNRNPC
8positive regulation of transcription from RNA polymerase II promoterGO:00459448.7SNW1, MYOD1, APP, SMARCA4, RPS27A
9mRNA splicing, via spliceosomeGO:00003988.6HNRNPA2B1, HNRNPA1, HNRNPC, SNW1, PABPN1
10gene expressionGO:00104678.4HNRNPA1, HNRNPC, RPS27A, SNW1, PABPN1, HNRNPA2B1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1peptidase activator activityGO:001650410.0PCOLCE, APP
2nuclear hormone receptor bindingGO:00352579.3SNW1, MYOD1
3nucleotide bindingGO:00001669.0HNRNPA1, HNRNPC, PABPN1, HNRNPA2B1
4RNA bindingGO:00037238.7HNRNPA2B1, PABPN1, HNRNPC, HNRNPA1
5identical protein bindingGO:00428028.6BCL2, USP4, HNRNPC, APP
6poly(A) RNA bindingGO:00448227.9HNRNPA2B1, HNRNPC, RPS27A, SNW1, CHERP, HNRNPA1
7protein bindingGO:00055154.9PABPN1, PCOLCE, SNW1, DNAJB4, DNAJA1, CHERP

Products for genes affiliated with Oculopharyngeal Muscular Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Oculopharyngeal Muscular Dystrophy

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet