MCID: OCL008
MIFTS: 50

Oculopharyngeal Muscular Dystrophy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases

Aliases & Classifications for Oculopharyngeal Muscular Dystrophy

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Oculopharyngeal Muscular Dystrophy:

Name: Oculopharyngeal Muscular Dystrophy 49 10 11 21 45 22 23 12 51 67
Opmd 21 45 22 23 51 67
Muscular Dystrophy, Oculopharyngeal 10 45 23 36 65
 
Muscular Dystrophy Oculopharyngeal 47 24
Progressive Muscular Dystrophy, Oculopharyngeal Type 23
Oculopharyngeal Dystrophy 23

Characteristics:

Orphanet epidemiological data:

51
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult

HPO:

61
oculopharyngeal muscular dystrophy:
Onset and clinical course: progressive, adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 164300
Disease Ontology10 DOID:11719
ICD1027 G71.0
MeSH36 D039141
NCIt42 C84942
SNOMED-CT59 77097004
Orphanet51 270
UMLS via Orphanet66 C0270952
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 D039141
MedGen34 C0270952
UMLS65 C0270952

Summaries for Oculopharyngeal Muscular Dystrophy

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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 opmd, is related to dysphagia and swallowing disorders, and has symptoms including skeletal muscle atrophy, myopathy 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 is Telomere Extension by Telomerase. Affiliated tissues include tongue, skeletal muscle and lung.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Oculopharyngeal muscular dystrophy: A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb- muscle involvement.

Wikipedia:68 Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominantneuromuscular disease or autosomal... more...

Description from OMIM:49 164300

GeneReviews summary for NBK1126

Related Diseases for Oculopharyngeal Muscular Dystrophy

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



Diseases related to oculopharyngeal muscular dystrophy

Symptoms for Oculopharyngeal Muscular Dystrophy

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Symptoms by clinical synopsis from OMIM:

164300

Clinical features from OMIM:

164300

Symptoms:

 51 (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 16)
id Description Frequency HPO Source Accession
1 skeletal muscle atrophy hallmark (90%) HP:0003202
2 myopathy hallmark (90%) HP:0003198
3 abnormality of the pharynx hallmark (90%) HP:0000600
4 ophthalmoparesis hallmark (90%) HP:0000597
5 ptosis hallmark (90%) HP:0000508
6 mask-like facies occasional (7.5%) HP:0000298
7 facial palsy HP:0010628
8 progressive ptosis HP:0007838
9 proximal muscle weakness HP:0003701
10 limb muscle weakness HP:0003690
11 distal muscle weakness HP:0002460
12 dysphagia HP:0002015
13 gait disturbance HP:0001288
14 dysarthria HP:0001260
15 neck muscle weakness HP:0000467
16 mask-like facies HP:0000298

Drugs & Therapeutics for Oculopharyngeal Muscular Dystrophy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Continuation Protocol to Protocol BBCO-001Enrolling by invitationNCT02328482Phase 3
2Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of MyoblastsCompletedNCT00773227Phase 2
3Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) PatientsCompletedNCT02015481Phase 2
4Dysphagia in Oculopharyngeal Muscular Dystrophy (OPMD)- Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow upRecruitingNCT01167439Phase 1
5Study of Muscle Abnormalities in Patients With Specific Genetic MutationsCompletedNCT00001871
6Effect of Aerobic Training in Patients With Oculopharyngeal Muscular DystrophyRecruitingNCT02158156

Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy


Cochrane evidence based reviews: muscular dystrophy, oculopharyngeal

Genetic Tests for Oculopharyngeal Muscular Dystrophy

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Genetic tests related to Oculopharyngeal Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Oculopharyngeal Muscular Dystrophy22 PABPN1

Anatomical Context for Oculopharyngeal Muscular Dystrophy

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MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:

33
Tongue, Skeletal muscle, Lung, Eye, Liver, Bone, T cells

Animal Models for Oculopharyngeal Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Oculopharyngeal Muscular Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Oculopharyngeal Muscular Dystrophy

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Articles related to Oculopharyngeal Muscular Dystrophy:

(show top 50)    (show all 228)
idTitleAuthorsYear
1
Myogenic differentiation potential of human tonsil-derived mesenchymal stem cells and their potential for use to promote skeletal muscle regeneration. (27035161)
2016
2
Certain class I HLA alleles and haplotypes implicated in susceptibility play a role in determining specific features of the psoriatic arthritis phenotype. (25261574)
2016
3
Diagnosis and prediction of the occurrence of acute mountain sickness measuring oxygen saturation-independent of absolute altitude? (26032284)
2015
4
Antigen and lymphopenia-driven donor T cells are differentially diminished by post-transplantation administration of cyclophosphamide after hematopoietic cell transplantation. (23819914)
2013
5
Deep venous thrombosis after saphenous endovenous radiofrequency ablation: is it predictable? (24211409)
2013
6
A case of pyoderma gangrenosum with ulcerative colitis treated with combined approach: infliximab and surgery. (22889645)
2013
7
Association between baseline fetal hemoglobin levels and incidence of severe vaso-occlusive pain episodes in children with sickle cell anemia. (23677903)
2013
8
Diffusion tensor imaging reveals normal geniculocalcarine-tract integrity in acquired blindness. (22560504)
2012
9
Hypopituitarism and central diabetes insipidus: perioperative diagnosis and management. (23040752)
2012
10
CEP90 is required for the assembly and centrosomal accumulation of centriolar satellites, which is essential for primary cilia formation. (23110211)
2012
11
Evaluation of surgical treatment of developmental dysplasia of hip for avascular necrosis of femoral head in children. (24199469)
2012
12
RET, ROS1 and ALK fusions in lung cancer. (22327623)
2012
13
Modulation of human cardiac transient outward potassium current by EGFR tyrosine kinase and Src-family kinases. (22198508)
2012
14
Evaluation of postoperative adjuvant chemotherapy for intrahepatic cholangiocarcinoma patients undergoing R1 and R2 resections. (23480760)
2012
15
Hereditary breast cancer genetics--from clinical curiosities to mainstream paradigms. (21432024)
2011
16
Negative regulation of the Hrp type III secretion system in Pseudomonas syringae pv. phaseolicola. (20367475)
2010
17
Elevated adiponectin serum levels in patients with chronic alcohol abuse rapidly decline during alcohol withdrawal. (19067777)
2009
18
Inhibition of the human P2X7 receptor by a novel protein tyrosine kinase antagonist. (17999916)
2008
19
5-azacytidine enhances anti-tumor efficacy of doxorubicin to neuroblastoma cell lines]. (18082045)
2007
20
Low-dose of ionizing radiation enhances cell proliferation via transient ERK1/2 and p38 activation in normal human lung fibroblasts. (17660698)
2007
21
Extracorporeal membrane oxygenation in a patient with peripartum cardiomyopathy. (17588427)
2007
22
Role of the peroxynitrite-poly (ADP-ribose) polymerase pathway in the pathogenesis of liver injury. (16918420)
2006
23
Stoichiometry of LTbetaR binding to LIGHT. (16906770)
2006
24
Carboxylesterase isoform 2 mRNA expression in peripheral blood mononuclear cells is a predictive marker of the irinotecan to SN38 activation step in colorectal cancer patients. (16203781)
2005
25
Neisseria gonorrhoeae kills carcinoembryonic antigen-related cellular adhesion molecule 1 (CD66a)-expressing human B cells and inhibits antibody production. (15972507)
2005
26
Role of the p70(S6K) pathway in regulating the actin cytoskeleton and cell migration. (15149849)
2004
27
Aggressive responding in abstinent heroin addicts: neuroendocrine and personality correlates. (14687867)
2004
28
Association of HLA-DR4 (DRB1*0404) with human papillomavirus infection in patients with focal epithelial hyperplasia. (15492185)
2004
29
Pathology and neurotransmitter abnormalities of dementia with Lewy bodies. (14676464)
2004
30
Pathologic quiz case: a 5-day-old boy with hydrops fetalis. Mucolipidoses I (Sialidosis III). (12873188)
2003
31
Adenoid cystic carcinoma of the trachea and bronchus--a clinicopathologic study with DNA flow cytometric analysis and oncogene expression. (12297183)
2002
32
Terminal deletion of Xp22.3 associated with contiguous gene syndrome: LAcri-Weill dyschondrosteosis, developmental delay, and ichthyosis. (11252003)
2001
33
Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles. (11737301)
2001
34
Laparoscopic splenopexy for adult wandering spleen: sandwich method with two sheets of absorbable knitted mesh. (11083221)
2000
35
Insulin stimulation of glutamine: fructose-6-phosphate amidotransferase occurs via an insulin-like growth factor-1 pathway in rat fibroblasts. (10604279)
1999
36
Motilin-producing liver and bone metastases evidenced 14 years after resection of a rectal polyp. (10403308)
1999
37
Identification and purification of apolipoprotein C-III from the serum of cows. (9622732)
1998
38
A novel DNA recognition mode by the NF-kappa B p65 homodimer. (9437432)
1998
39
Randomized phase II trial of BCDT [carmustine (BCNU), cisplatin, dacarbazine (DTIC) and tamoxifen] with or without interferon alpha (IFN-alpha) and interleukin (IL-2) in patients with metastatic melanoma. (9579834)
1998
40
Desferioxamine increases iron depletion and apoptosis induced by ara-C of human myeloid leukaemic cells. (9722302)
1998
41
Idiopathic eosinophilic myositis associated with vasculitis and symmetrical polyneuropathy. (9133947)
1997
42
Regulation of inositol lipid-specific phospholipase cdelta by changes in Ca2+ ion concentrations. (9359428)
1997
43
Glutathione-S-Transferase M1 and codon 72 p53 polymorphisms in a northwestern Mediterranean population and their relation to lung cancer susceptibility. (9162298)
1996
44
Cytokines and thermoregulation: interleukin-9 injected in preoptic area fails to evoke fever in rats. (7895096)
1995
45
Protein C inhibitor is expressed in tubular cells of human kidney. (7525654)
1994
46
Atypical carcinoid tumor of the lung with amyloid stroma. (1609616)
1992
47
Vasoocclusion with homozygous hemoglobin-C disease. (3239710)
1988
48
The avocational pursuits of rehabilitants with traumatic quadriplegia. (707253)
1978
49
Pathologic nystagmus: a classification based on electro-oculographic recordings. (1088538)
1976
50

Variations for Oculopharyngeal Muscular Dystrophy

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Clinvar genetic disease variations for Oculopharyngeal Muscular Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_004643.3(PABPN1): c.4_6GCG(6) (p.Ala2_Ala7=)NT expansionPathogenicGRCh37Chr 14, 23790682: 23790684
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

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

Pathways for genes affiliated with Oculopharyngeal Muscular Dystrophy

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Pathways related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4HNRNPA1, HNRNPA2B1

GO Terms for genes affiliated with Oculopharyngeal Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1catalytic step 2 spliceosomeGO:00710139.4HNRNPA1, HNRNPA2B1

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.8BCL2, RPS27A
2cellular response to hypoxiaGO:00714569.5BCL2, RPS27A
3negative regulation of cell growthGO:00303089.3BCL2, SMARCA4
4negative regulation of G1/S transition of mitotic cell cycleGO:20001349.1BCL2, SMARCA4
5mRNA splicing, via spliceosomeGO:00003989.1HNRNPA1, HNRNPA2B1, PABPN1

Sources for Oculopharyngeal Muscular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet