OPMD
MCID: OCL008
MIFTS: 61

Oculopharyngeal Muscular Dystrophy (OPMD) malady

Neuronal diseases, Eye diseases, Muscle diseases categories

Summaries for Oculopharyngeal Muscular Dystrophy

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to myopathy and inclusion body myositis, and has symptoms including anomaly of the pharynx/pharyngeal anomaly, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and expressionless face/amimia. An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (poly(A) binding protein, nuclear 1), and among its related pathways are Inflammasomes and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. The compounds thioflavine s and ladostigil have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and hypothalamus.

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:63 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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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

oculopharyngeal muscular dystrophy 8 9 19 42 21 46 48
muscular dystrophy, oculopharyngeal 8 42 20 22 21 60
opmd 19 42 21 48
progressive muscular dystrophy, oculopharyngeal type 21
muscular dystrophy oculopharyngeal 44
oculopharyngeal dystrophy 21


External Ids:

Disease Ontology8 DOID:11719
OMIM46 164300
NCIt39 C84942
MeSH34 D039141
SNOMED-CT56 77097004
MESH via Orphanet35 D039141
ICD10 via Orphanet26 G71.0
SNOMED-CT via Orphanet57 77097004
UMLS via Orphanet61 C0270952

Related Diseases for Oculopharyngeal Muscular Dystrophy

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17GeneCards, 18GeneDecks
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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
1myopathy30.9RPS27A, PYGM, APP, MYOD1, MYH7, PABPN1
2inclusion body myositis30.8RPS27A, APP
3myositis30.8RPS27A, APP, MYOD1
4neuropathy30.5PABPN1, MYOD1
5dementia30.3RPS27A, HSPA4, APP
6muscular dystrophy11.4
7esophagitis10.6
8distal muscular dystrophy10.5
9pharyngitis10.5
10muscular atrophy10.4
11arachnoiditis10.2
12neuronitis10.2
13limb-girdle muscular dystrophy10.2
14meningitis10.2
15myasthenia gravis10.2
16ophthalmoplegia10.2
17peripheral neuropathy10.2
18hereditary neuropathy with liability to pressure palsies10.2
19dysphagia10.2
20swallowing disorders10.2
21oculopharyngodistal myopathy10.2
22fanconi's anemia10.0RPS27A
23huntington's disease10.0TGM2
24herpes simplex10.0RPS27A
25myotonic dystrophy10.0MYH7, MYOD1
26schizophrenia10.0HSPA4
27encephalitis10.0APP
28spinocerebellar degeneration10.0RPS27A, CHERP
29prion disease10.0HSPA4
30myopathy congenital10.0MYH7, PYGM, RPS27A
31atherosclerosis10.0TGM2, HSPA4
32transient cerebral ischemia10.0RPS27A, HSPA4
33colon adenocarcinoma10.0BCL2
34spinocerebellar ataxia type 710.0CHERP, HSPA4
35neuroaxonal dystrophy, infantile10.0RPS27A, APP
36motor neuron disease10.0HSPA4, RPS27A
37brain ischemia10.0APP, HSPA4
38ischemia10.0HSPA4, MYH7, TGM2
39vascular dementia10.0RPS27A, APP, TGM2
40amyotrophic lateral sclerosis10.0TGM2, APP, RPS27A
41adenocarcinoma10.0SMARCA4, BCL2
42hemorrhage, intracerebral10.0RPS27A, APP
43toxic encephalopathy10.0APP, HSPA4
44insulin resistance10.0MYOD1, PYGM, RPS27A
45parkinson's disease10.0RPS27A, APP, CHERP, TGM2
46pancreatic cancer10.0TGM2, BCL2, RPS27A
47leukemia10.0HSPA4, BCL2, SMARCA4
48alzheimer's disease10.0RPS27A, APP, CHERP, TGM2
49glioblastoma multiforme10.0TGM2, BCL2, APP
50retinoblastoma10.0RPS27A, SNW1, MYOD1, MYH7, BCL2, SMARCA4

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



Diseases related to oculopharyngeal muscular dystrophy

Clinical Features for Oculopharyngeal Muscular Dystrophy

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

164300

Clinical synopsis from OMIM:

164300

Symptoms:

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

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Oculopharyngeal Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Oculopharyngeal Muscular Dystrophy

Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy

Search CenterWatch for Oculopharyngeal Muscular Dystrophy

Genetic Tests for Oculopharyngeal Muscular Dystrophy

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

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

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

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Publications for Oculopharyngeal Muscular Dystrophy

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50PubMed
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Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
2
191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. (23578714)
2013
3
Cricopharyngeal dilatation for the long-term treatment of dysphagia in oculopharyngeal muscular dystrophy. (21805106)
2012
4
Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy. (21204267)
2011
5
Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients. (21316245)
2011
6
Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy. (21199860)
2011
7
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report. (19175930)
2009
8
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
9
Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects. (18577654)
2008
10
Variability of the recessive oculopharyngeal muscular dystrophy phenotype. (17206657)
2007
11
Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy. (17418585)
2007
12
Siblings with recessive oculopharyngeal muscular dystrophy. (17296297)
2007
13
Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. (16619122)
2006
14
A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy. (16481821)
2006
15
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. (16311254)
2006
16
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody. (16319127)
2006
17
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. (16101680)
2005
18
Oculopharyngeal muscular dystrophy - an under-diagnosed disorder? (16333769)
2005
19
Cisatracurium pharmacodynamics in patients with oculopharyngeal muscular dystrophy. (15673864)
2005
20
Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene]. (15150706)
2004
21
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. (12673802)
2003
22
Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy. (12464544)
2003
23
Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. (12619777)
2003
24
Correction of blepharoptosis in oculopharyngeal muscular dystrophy. (12370650)
2002
25
Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. (11304042)
2001
26
Oculopharyngeal muscular dystrophy: What's new? (12045902)
2001
27
Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene. (10734263)
2000
28
Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. (10508991)
1999
29
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. (9608566)
1998
30
Recent studies on oculopharyngeal muscular dystrophy in QuAcbec. (9392011)
1997
31
Oculopharyngeal muscular dystrophy in Italy. (9392017)
1997
32
Surgical correction of blepharoptosis in oculopharyngeal muscular dystrophy. (9392022)
1997
33
Oculopharyngeal muscular dystrophy in Uruguay. (9392016)
1997
34
Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia. (9392010)
1997
35
Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel. (9392014)
1997
36
Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews. (8628475)
1996
37
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. (8957024)
1996
38
Oculopharyngeal muscular dystrophy in two unrelated Japanese families. (8618681)
1996
39
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. (7795598)
1995
40
A case of oculopharyngeal muscular dystrophy in a Bulgarian Jew. (8409167)
1993
41
Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature. (8387769)
1993
42
Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews. (8186715)
1993
43
Rimmed vacuoles of inclusion body myositis and oculopharyngeal muscular dystrophy contain amyloid precursor protein and lysosomal markers. (8461987)
1993
44
Forearm P-31 nuclear magnetic resonance spectroscopy studies in oculopharyngeal muscular dystrophy. (1623442)
1992
45
Childhood onset oculopharyngeal muscular dystrophy. (1764143)
1991
46
Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian kindred. (7057207)
1982
47
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. (7254232)
1981
48
Surgery in oculopharyngeal muscular dystrophy. (7350844)
1980
49
Oculopharyngeal muscular dystrophy. (5806779)
1969
50
Oculopharyngeal muscular dystrophy. (13963574)
1963

Genetic Variations for Oculopharyngeal Muscular Dystrophy

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Expression for genes affiliated with Oculopharyngeal Muscular Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Oculopharyngeal Muscular Dystrophy

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44Novoseek, 11DrugBank, 24HMDB, 2BitterDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.3APP, RPS27A
2ladostigil4410.3BCL2, APP
3rotenone449.8RPS27A, HSPA4, BCL2
4flavopiridol44 1110.8HSPA4, PYGM, BCL2
53-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.8BCL2, APP, HSPA4
64-hydroxynonenal44 2410.7APP, HSPA4, RPS27A
7chloroquine44 2 49 28 1113.7APP, HSPA4, RPS27A
8ibuprofen44 28 49 11 2413.7BCL2, APP, HSPA4
9c2ceramide449.7BCL2, APP, HSPA4
10rasagiline44 1110.6BCL2, APP
11thymidylate449.6RPS27A, APP, BCL2
12adpribose449.6RPS27A, HSPA4, BCL2
13curcumin449.5RPS27A, HSPA4, APP, BCL2
14thapsigargin44 5910.5TGM2, BCL2, APP, HSPA4
15geldanamycin44 49 59 1112.5MYOD1, HSPA4, RPS27A
16mg 13244 5910.4BCL2, MYOD1, HSPA4, RPS27A
17doxorubicin44 49 1111.2TGM2, BCL2, HSPA4, RPS27A
18lactacystin449.2RPS27A, HSPA4, APP, MYOD1, BCL2
19butyrate449.2RPS27A, HSPA4, APP, MYOD1, BCL2
20actinomycin d449.2RPS27A, HSPA4, APP, MYOD1, BCL2
21acetylcholine44 49 28 11 2413.1RPS27A, HSPA4, APP, MYOD1
22cysteine449.1RPS27A, APP, MYOD1, MYH7, SMARCA4, TGM2
23alanine449.0TGM2, PABPN1, MYOD1, APP, HSPA4, RPS27A
24glutamine448.9TGM2, PABPN1, MYH7, CHERP, APP, HSPA4
25creatinine448.9RPS27A, HSPA4, PYGM, APP, MYOD1, MYH7
26atp44 289.8RPS27A, HSPA4, PYGM, MYOD1, MYH7, SMARCA4
27testosterone44 59 11 2411.8RPS27A, HSPA4, APP, CHERP, MYOD1, SMARCA4
28retinoic acid44 249.8RPS27A, HSPA4, APP, MYOD1, BCL2, TGM2
29adenylate448.7RPS27A, HSPA4, HNRNPC, APP, PABPN1
30h2o2448.6BCL2, APP, HNRNPC, HSPA4, RPS27A
31serine448.4RPS27A, HSPA4, APP, MYOD1, MYH7, BCL2
32arginine448.3RPS27A, HNRNPC, PYGM, APP, MYOD1, MYH7

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

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16Gene Ontology
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Cellular components related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribonucleoprotein complexGO:0305299.8HNRNPA2B1, HNRNPA1, PABPN1
2catalytic step 2 spliceosomeGO:0710138.8HNRNPC, HNRNPA2B1, HNRNPA1, SNW1
3spliceosomal complexGO:0056818.8HNRNPC, HNRNPA2B1, SNW1, HNRNPA1
4nucleolusGO:0057308.0HSPA4, HNRNPA2B1, HNRNPA1, SNW1, PABPN1, DNAJB4
5nucleoplasmGO:0056547.9PABPN1, RPS27A, HNRNPC, MYOD1, SNW1, HNRNPA1
6cytoplasmGO:0057376.9CHERP, USP4, APP, HNRNPA1, HNRNPA2B1, HSPA4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.9RPS27A, APP, BCL2
2positive regulation by host of viral transcriptionGO:0439239.7SMARCA4, SNW1
3Notch signaling pathwayGO:0072199.3RPS27A, APP, SNW1
4response to unfolded proteinGO:0069869.1HSPA4, DNAJB4, DNAJA1
5RNA splicingGO:0083809.0PABPN1, HNRNPA1, HNRNPA2B1, HNRNPC
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.9SMARCA4, MYOD1, SNW1, APP, RPS27A
7mRNA splicing, via spliceosomeGO:0003988.7PABPN1, SNW1, HNRNPA1, HNRNPA2B1, HNRNPC
8gene expressionGO:0104678.4PABPN1, SNW1, HNRNPA1, HNRNPA2B1, HNRNPC, RPS27A

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide bindingGO:0001668.4PABPN1, HNRNPC, HNRNPA2B1, HNRNPA1, PYGM, PABPN1L
2RNA bindingGO:0037238.3HNRNPC, HNRNPA1, CHERP, PABPN1L, PABPN1, HNRNPA2B1
3protein bindingGO:0055154.8DNAJB4, MYH7, MYOD1, CHERP, SNW1, USP4

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet