MCID: OCL008
MIFTS: 56

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: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 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:41 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:63 Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominantneuromuscular disease or autosomal... more...

Description from OMIM:45 164300

GeneReviews summary for opmd

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 20GeneTests, 60UMLS, 43Novoseek, 22GTR, 33MeSH, 38NCIt, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Oculopharyngeal Muscular Dystrophy, Aliases & Descriptions:

Name: Oculopharyngeal Muscular Dystrophy 45 9 10 19 41 21 47
Muscular Dystrophy, Oculopharyngeal 9 41 20 21 60
Opmd 19 41 21 47
 
Muscular Dystrophy Oculopharyngeal 43 22
Progressive Muscular Dystrophy, Oculopharyngeal Type 21
Oculopharyngeal Dystrophy 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult


External Ids:

OMIM45 164300
Disease Ontology9 DOID:11719
MeSH33 D039141
NCIt38 C84942
SNOMED-CT55 77097004
Orphanet47 270
MESH via Orphanet34 D039141
ICD10 via Orphanet26 G71.0
UMLS via Orphanet61 C0270952

Related Diseases for Oculopharyngeal Muscular Dystrophy

About this section

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1dysphagia32.0PABPN1
2inclusion body myositis31.4APP
3myositis31.1APP, RPS27A, MYOD1
4myopathy30.9RPS27A, MYOD1, MYH7, PABPN1, APP
5dementia30.2RPS27A, HSPA4, APP
6muscular dystrophy11.4
7esophagitis10.6
8ptosis10.6
9pharyngitis10.5
10rhabdoid tumor10.5MYOD1
11huntington disease10.5TGM2
12neuropathy10.4
13oculopharyngodistal myopathy10.4
14spinocerebellar degeneration10.4RPS27A, CHERP
15machado-joseph disease10.4RPS27A, CHERP
16myopathy congenital10.3RPS27A, MYH7
17spinocerebellar ataxia 710.3CHERP, HSPA4
18myasthenia gravis10.3
19obstructive sleep apnea10.3
20neuronitis10.3
21muscular atrophy10.3
22arachnoiditis10.3
23meningitis10.3
24ophthalmoplegia10.3
25peripheral neuropathy10.3
26sleep apnea10.3
27arachnoid cysts10.3
28hereditary neuropathy with liability to pressure palsy10.3
29tuberculous meningitis10.3
30hereditary neuropathies10.3
31swallowing disorders10.3
32transient cerebral ischemia10.3RPS27A, HSPA4
33dementia, frontotemporal10.3APP, RPS27A
34infantile neuroaxonal dystrophy 110.2RPS27A, APP
35spinocerebellar ataxia10.2RPS27A, CHERP
36hemorrhage, intracerebral10.2RPS27A, APP
37supranuclear palsy, progressive10.2APP, RPS27A
38dementia, lewy body10.2RPS27A, APP
39tauopathy10.1RPS27A, APP
40cataract10.1TGM2, HSPA4, RPS27A
41vascular dementia10.1RPS27A, TGM2, APP
42amyotrophic lateral sclerosis 110.1APP, TGM2, RPS27A
43creutzfeldt-jakob disease10.1RPS27A, APP
44parkinson disease, late-onset10.0CHERP, RPS27A, APP, TGM2
45brain ischemia10.0APP, HSPA4
46pick disease9.9RPS27A, APP
47cervical cancer, somatic9.8HSPA4, RPS27A, BCL2
48retinoblastoma9.6MYOD1, MYH7, SNW1, BCL2, SMARCA4, RPS27A
49lung cancer9.6HNRNPC, BCL2, TGM2, SMARCA4, HNRNPA2B1
50melanoma9.5MYOD1, TGM2, HSPA4, SMARCA4, BCL2

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:

 47 (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 Dystrophy20 22 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

About this section

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

31
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:

6
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 Suite gene sharing:

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 Suite gene sharing:

(show all 46)
idCompoundScoreTop Affiliating Genes
1thioflavine s4310.4RPS27A, APP
2ladostigil4310.3BCL2, APP
3rasagiline43 1211.2APP, BCL2
4sulindac sulfide4310.1APP, BCL2
5thymidylate4310.0APP, RPS27A, BCL2
6bryostatin 14310.0RPS27A, BCL2
7valine439.9RPS27A, MYH7, APP
8rotenone439.9HSPA4, RPS27A, BCL2
94-hydroxynonenal43 2410.8HSPA4, APP, RPS27A
10chloroquine43 2 49 28 1213.8RPS27A, APP, HSPA4
113-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide439.8HSPA4, APP, BCL2
12adpribose439.8BCL2, RPS27A, HSPA4
13iodoacetamide439.8HSPA4, TGM2
14ibuprofen43 28 49 24 1213.8HSPA4, APP, BCL2
15c2ceramide439.8BCL2, APP, HSPA4
16camptothecin43 59 1211.7BCL2, RPS27A, HSPA4
17isoproterenol43 1210.7HSPA4, APP, MYH7
18geldanamycin43 49 59 1212.7HSPA4, MYOD1, RPS27A
19arsenite43 2410.6BCL2, RPS27A, HSPA4
20curcumin439.6BCL2, RPS27A, APP, HSPA4
21lysine439.6SMARCA4, TGM2, MYOD1, RPS27A
22thapsigargin43 5910.6HSPA4, APP, TGM2, BCL2
23doxorubicin43 49 1211.6BCL2, RPS27A, TGM2, HSPA4
24bromodeoxyuridine439.6MYOD1, MYH7, HSPA4
25aspirin43 49 28 2412.5RPS27A, APP, HSPA4
26mg 13243 5910.5HSPA4, MYOD1, RPS27A, BCL2
27glycerol43 24 1211.4RPS27A, MYH7, HSPA4
28acetylcholine43 49 28 24 1213.4HSPA4, APP, MYOD1, RPS27A
29guanine43 24 1211.4MYH7, MYOD1, RPS27A
30paraffin439.4BCL2, RPS27A, MYOD1, HSPA4
31glutamate439.3HSPA4, APP, TGM2, MYH7, RPS27A
32cysteine439.3SMARCA4, APP, TGM2, MYH7, MYOD1, RPS27A
33lactacystin439.2HSPA4, APP, MYOD1, RPS27A, BCL2
34butyrate439.2HSPA4, APP, MYOD1, RPS27A, BCL2
35actinomycin d439.2HSPA4, APP, MYOD1, RPS27A, BCL2
36creatinine439.1HSPA4, APP, PABPN1, MYH7, MYOD1, RPS27A
37vegf439.1HSPA4, APP, MYOD1, RPS27A, BCL2
38alanine439.1HSPA4, APP, TGM2, PABPN1, MYOD1, RPS27A
39atp43 2810.0SMARCA4, HSPA4, TGM2, MYH7, MYOD1, RPS27A
40retinoic acid43 2410.0HSPA4, APP, TGM2, MYOD1, RPS27A, BCL2
41glutamine438.9RPS27A, CHERP, MYH7, PABPN1, TGM2, APP
42testosterone43 59 24 1211.9SMARCA4, HSPA4, APP, MYOD1, CHERP, RPS27A
43adenylate438.9HSPA4, APP, PABPN1, RPS27A, HNRNPC
44h2o2438.7HSPA4, APP, RPS27A, BCL2, HNRNPC
45serine438.7HSPA4, APP, TGM2, MYH7, MYOD1, RPS27A
46arginine438.6SMARCA4, APP, PABPN1, MYH7, MYOD1, RPS27A

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1ribonucleoprotein complexGO:00305299.7PABPN1, HNRNPA1, HNRNPA2B1
2catalytic step 2 spliceosomeGO:00710138.7HNRNPA2B1, HNRNPA1, HNRNPC, SNW1
3spliceosomal complexGO:00056818.7SNW1, HNRNPC, HNRNPA1, HNRNPA2B1
4nucleolusGO:00057308.0MYH7, DNAJB4, SNW1, HNRNPC, HNRNPA1, SMARCA4
5nucleoplasmGO:00056547.8PABPN1, MYOD1, SNW1, RPS27A, HNRNPC, HNRNPA1
6cytoplasmGO:00057377.6USP4, APP, PABPN1, MYH7, CHERP, DNAJB4
7extracellular vesicular exosomeGO:00700627.5HSPA4, APP, TGM2, DNAJA1, RPS27A, PCOLCE
8nucleusGO:00056346.6SMARCA4, USP4, PABPN1, MYH7, MYOD1, DNAJB4

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

(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 Suite gene sharing:

(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
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet