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 expressionless face/amimia, autosomal recessive inheritance and autosomal dominant inheritance. 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, 21Genetics Home Reference, 46OMIM, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 44Novoseek, 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)
  • expressionless face/amimia
  • autosomal recessive inheritance
  • autosomal dominant inheritance
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • myopathy
  • anomaly of the pharynx/pharyngeal anomaly
  • ptosis
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy

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, Testes, Skeletal muscle, Smooth muscle

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
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. (23831596)
2014
2
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing. (23848287)
2013
3
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients. (23399899)
2013
4
Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy. (24050237)
2013
5
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
6
Ocular motor deficits in oculopharyngeal muscular dystrophy. (22417239)
2012
7
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein. (21854744)
2011
8
Oculopharyngeal muscular dystrophy associated with dementia. (22001477)
2011
9
Oculopharyngeal muscular dystrophy--a genetically verified taiwanese family. (20184794)
2010
10
Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients. (19484687)
2009
11
Clinical characterization and blepharoptosis surgery outcomes in Hispanic New Mexicans with oculopharyngeal muscular dystrophy. (19300150)
2009
12
Oculopharyngeal muscular dystrophy: a polyalanine myopathy. (19080757)
2009
13
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. (18178579)
2008
14
Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder. (16530457)
2006
15
Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy. (16421137)
2006
16
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. (15645184)
2005
17
Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. (14976164)
2004
18
Continuous remodeling of adult extraocular muscles as an explanation for selective craniofacial vulnerability in oculopharyngeal muscular dystrophy. (15206442)
2004
19
Obstructive sleep apnea syndrome complicating oculopharyngeal muscular dystrophy. (14718463)
2004
20
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
21
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. (11222452)
2001
22
The product of an oculopharyngeal muscular dystrophy gene, poly(A)- binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. (11371506)
2001
23
Oculopharyngeal muscular dystrophy complicating airway management. (11742947)
2001
24
Oculopharyngeal muscular dystrophy. (10711989)
1999
25
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. (10401788)
1999
26
Mutation analysis of oculopharyngeal muscular dystrophy in Hispanic American families. (10555658)
1999
27
No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (9678711)
1998
28
A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. (9392026)
1997
29
Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene. (9392020)
1997
30
Gradual onset of dysphagia: a study of patients with oculopharyngeal muscular dystrophy. (9294939)
1997
31
Proceedings of the First International Symposium on Oculopharyngeal muscular dystrophy. QuAcbec, 22-23 September 1995. (9424173)
1997
32
Upper esophageal sphincter myotomy in oculopharyngeal muscular dystrophy: long-term clinical results. (9392024)
1997
33
Dysphagia in oculopharyngeal muscular dystrophy: a series of 22 French cases. (9392025)
1997
34
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. (9392021)
1997
35
Oculopharyngeal muscular dystrophy in Norway. Survey of a large Norwegian family. (8739439)
1996
36
Oculopharyngeal Muscular Dystrophy (20301305)
1993
37
Oculopharyngeal muscular dystrophy. (8439856)
1993
38
Computerized tomography of oropharynx is useful in the diagnosis of oculopharyngeal muscular dystrophy. (8446134)
1993
39
Oculopharyngeal muscular dystrophy: a case report and a review of literature. (1416791)
1992
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
Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. (2544827)
1989
43
Oculopharyngeal muscular dystrophy as a cause of dysphagia in the elderly. (3944405)
1986
44
Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. (3108751)
1986
45
Familial oculopharyngeal muscular dystrophy with distal spread. (6194273)
1983
46
Creatine phosphokinase MB band in oculopharyngeal muscular dystrophy. (450000)
1979
47
Cricopharyngeal myotomy for dysphagia in oculopharyngeal muscular dystrophy. Report of a case. (1247419)
1976
48
Autosomal recessive oculopharyngeal muscular dystrophy. (1219124)
1975
49
Oculopharyngeal muscular dystrophy treated by inferior constrictor myotomy. (5097831)
1971
50
Oculopharyngeal muscular dystrophy. (5173121)
1971

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:0305299.8PABPN1, HNRNPA1, HNRNPA2B1
2catalytic step 2 spliceosomeGO:0710138.8SNW1, HNRNPA1, HNRNPA2B1, HNRNPC
3spliceosomal complexGO:0056818.8HNRNPC, HNRNPA2B1, HNRNPA1, SNW1
4nucleolusGO:0057308.0HSPA4, HNRNPA2B1, HNRNPA1, SNW1, MYH7, DNAJB4
5nucleoplasmGO:0056547.9RPS27A, HNRNPC, HNRNPA2B1, HNRNPA1, SNW1, MYOD1
6cytoplasmGO:0057376.9HSPA4, HNRNPA2B1, HNRNPA1, APP, USP4, CHERP

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, PABPN1L, PYGM, HNRNPA1, HNRNPA2B1, HNRNPC
2RNA bindingGO:0037238.3PABPN1, PABPN1L, CHERP, HNRNPA1, HNRNPA2B1, HNRNPC
3protein bindingGO:0055154.8SNW1, USP4, APP, HNRNPA1, HNRNPA2B1, HNRNPC

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