OPMD
MCID: OCL008
MIFTS: 55

Oculopharyngeal Muscular Dystrophy (OPMD) malady

Neuronal, Eye, Muscle categories

Summaries for Oculopharyngeal Muscular Dystrophy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 inclusion body myositis and dysphagia, and has symptoms including autosomal recessive inheritance, ptosis 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, smooth muscle and skeletal 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:64 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

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

oculopharyngeal muscular dystrophy 8 9 19 43 21 47 49
muscular dystrophy, oculopharyngeal 8 43 20 22 21 61
opmd 19 43 21 49
progressive muscular dystrophy, oculopharyngeal type 21
muscular dystrophy oculopharyngeal 45
oculopharyngeal dystrophy 21


External Ids:

Disease Ontology8 DOID:11719
OMIM47 164300
NCIt40 C84942
MeSH35 D039141
SNOMED-CT57 77097004
MESH via Orphanet36 D039141
ICD10 via Orphanet26 G71.0
SNOMED-CT via Orphanet58 77097004
UMLS via Orphanet62 C0270952

Related Diseases for Oculopharyngeal Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Oculopharyngeal Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1inclusion body myositis30.8RPS27A, APP
2dysphagia10.8
3muscular dystrophy - late onset10.6
4distal muscular dystrophy10.6
5oculopharyngodistal myopathy10.5
6muscular atrophy10.4
7ocular muscular dystrophy10.4
8limb-girdle muscular dystrophy10.3
9arachnoid cysts10.3
10tuberculous meningitis10.3
11sleep apnea10.3
12swallowing disorders10.3
13fanconi's anemia10.0RPS27A
14huntington's disease10.0TGM2
15herpes simplex10.0RPS27A
16myotonic dystrophy10.0MYH7, MYOD1
17schizophrenia10.0HSPA4
18encephalitis10.0APP
19spinocerebellar degeneration10.0CHERP, RPS27A
20prion disease10.0HSPA4
21neuropathy10.0PABPN1, MYOD1
22myopathy congenital10.0MYH7, PYGM, RPS27A
23atherosclerosis10.0TGM2, HSPA4
24transient cerebral ischemia10.0HSPA4, RPS27A
25colon adenocarcinoma10.0BCL2
26spinocerebellar ataxia type 710.0HSPA4, CHERP
27neuroaxonal dystrophy, infantile10.0RPS27A, APP
28motor neuron disease10.0RPS27A, HSPA4
29myositis10.0MYOD1, RPS27A, APP
30brain ischemia10.0APP, HSPA4
31ischemia10.0HSPA4, TGM2, MYH7
32vascular dementia10.0TGM2, APP, RPS27A
33amyotrophic lateral sclerosis10.0TGM2, APP, RPS27A
34adenocarcinoma10.0BCL2, SMARCA4
35hemorrhage, intracerebral10.0RPS27A, APP
36toxic encephalopathy10.0HSPA4, APP
37insulin resistance10.0PYGM, RPS27A, MYOD1
38parkinson's disease10.0CHERP, RPS27A, APP, TGM2
39dementia10.0HSPA4, RPS27A, APP
40pancreatic cancer10.0RPS27A, TGM2, BCL2
41leukemia10.0BCL2, HSPA4, SMARCA4
42alzheimer's disease10.0APP, TGM2, RPS27A, CHERP
43glioblastoma multiforme10.0BCL2, TGM2, APP
44myopathy10.0RPS27A, PYGM, APP, MYOD1, MYH7, PABPN1
45retinoblastoma10.0SNW1, MYOD1, RPS27A, BCL2, SMARCA4, MYH7
46melanoma10.0MYOD1, TGM2, SMARCA4, HSPA4, BCL2
47lung cancer10.0TGM2, HNRNPA2B1, SMARCA4, BCL2, HNRNPC

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



Diseases related to oculopharyngeal muscular dystrophy

Clinical Features for Oculopharyngeal Muscular Dystrophy

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

164300

Clinical synopsis from OMIM:

164300

Symptoms:

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

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Oculopharyngeal Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy20 22 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

33
Tongue, Smooth muscle, Skeletal muscle, B cells, Hypothalamus

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Oculopharyngeal Muscular Dystrophy

Sources:
51PubMed
See all sources

Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 212)
idTitleAuthorsYear
1
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. (23831596)
2014
2
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
3
Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing. (23848287)
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
Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. (22231868)
2012
7
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation. (21742497)
2011
8
A GCG expansion (GCG)a88a88 in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family. (21647273)
2011
9
Oculopharyngeal muscular dystrophy. (21496634)
2011
10
Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy. (20519718)
2010
11
Oculopharyngeal muscular dystrophy--a genetically verified taiwanese family. (20184794)
2010
12
Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients. (19484687)
2009
13
Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder. (16530457)
2006
14
Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy. (16421137)
2006
15
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
16
PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. (15755682)
2005
17
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. (14988608)
2004
18
Neurogenic involvement in a case of oculopharyngeal muscular dystrophy. (11754191)
2002
19
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. (11595511)
2001
20
The product of an oculopharyngeal muscular dystrophy gene, poly(A)- binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. (11371506)
2001
21
Oculopharyngeal muscular dystrophy complicating airway management. (11742947)
2001
22
Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2. (11079550)
2000
23
Oculopharyngeal muscular dystrophy. (10711989)
1999
24
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. (10401788)
1999
25
Mutation analysis of oculopharyngeal muscular dystrophy in Hispanic American families. (10555658)
1999
26
No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (9678711)
1998
27
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. (9392019)
1997
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
Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. (8784803)
1996
36
Oculopharyngeal muscular dystrophy in Norway. Survey of a large Norwegian family. (8739439)
1996
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
Oculopharyngeal muscular dystrophy and mitochondrial abnormalities. (1518515)
1992
41
Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase]. (1914322)
1991
42
Oculopharyngeal muscular dystrophy in an Irish family. (2759812)
1989
43
Chronic cough as the presenting symptom of oculopharyngeal muscular dystrophy. (2924627)
1989
44
Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. (2544827)
1989
45
Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. (3007900)
1986
46
Familial oculopharyngeal muscular dystrophy with distal spread. (6194273)
1983
47
Familial late onset oculopharyngeal muscular dystrophy. (7279823)
1981
48
Cricopharyngeal myotomy for dysphagia in oculopharyngeal muscular dystrophy. Report of a case. (1247419)
1976
49
Autosomal recessive oculopharyngeal muscular dystrophy. (1219124)
1975
50
The histopathology of the pharynx and esophagus in oculopharyngeal muscular dystrophy. Case report and literature review. (5117510)
1971

Genetic Variations for Oculopharyngeal Muscular Dystrophy

Expression for genes affiliated with Oculopharyngeal Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Oculopharyngeal Muscular Dystrophy

Sources:
45Novoseek, 11DrugBank, 24HMDB, 2BitterDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Oculopharyngeal Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1thioflavine s4510.3APP, RPS27A
2ladostigil4510.3BCL2, APP
3rotenone459.8RPS27A, HSPA4, BCL2
4flavopiridol45 1110.8HSPA4, PYGM, BCL2
53-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.8BCL2, APP, HSPA4
64-hydroxynonenal45 2410.7APP, HSPA4, RPS27A
7chloroquine45 2 50 29 1113.7APP, HSPA4, RPS27A
8ibuprofen45 29 50 11 2413.7BCL2, APP, HSPA4
9c2ceramide459.7BCL2, APP, HSPA4
10rasagiline45 1110.6BCL2, APP
11thymidylate459.6RPS27A, APP, BCL2
12adpribose459.6RPS27A, HSPA4, BCL2
13curcumin459.5RPS27A, HSPA4, APP, BCL2
14thapsigargin45 6010.5TGM2, BCL2, APP, HSPA4
15geldanamycin45 50 60 1112.5MYOD1, HSPA4, RPS27A
16mg 13245 6010.4BCL2, MYOD1, HSPA4, RPS27A
17doxorubicin45 50 1111.2TGM2, BCL2, HSPA4, RPS27A
18lactacystin459.2RPS27A, HSPA4, APP, MYOD1, BCL2
19butyrate459.2RPS27A, HSPA4, APP, MYOD1, BCL2
20actinomycin d459.2RPS27A, HSPA4, APP, MYOD1, BCL2
21acetylcholine45 50 29 11 2413.1RPS27A, HSPA4, APP, MYOD1
22cysteine459.1RPS27A, APP, MYOD1, MYH7, SMARCA4, TGM2
23alanine459.0TGM2, PABPN1, MYOD1, APP, HSPA4, RPS27A
24glutamine458.9TGM2, PABPN1, MYH7, CHERP, APP, HSPA4
25creatinine458.9RPS27A, HSPA4, PYGM, APP, MYOD1, MYH7
26atp45 299.8RPS27A, HSPA4, PYGM, MYOD1, MYH7, SMARCA4
27testosterone45 60 11 2411.8RPS27A, HSPA4, APP, CHERP, MYOD1, SMARCA4
28retinoic acid45 249.8RPS27A, HSPA4, APP, MYOD1, BCL2, TGM2
29adenylate458.7RPS27A, HSPA4, HNRNPC, APP, PABPN1
30h2o2458.6BCL2, APP, HNRNPC, HSPA4, RPS27A
31serine458.4RPS27A, HSPA4, APP, MYOD1, MYH7, BCL2
32arginine458.3RPS27A, HNRNPC, PYGM, APP, MYOD1, MYH7

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

Sources:
16Gene Ontology
See all sources

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, 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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet