Oculopharyngeal Muscular Dystrophy malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Oculopharyngeal Muscular Dystrophy:
Orphanet epidemiological data:53
oculopharyngeal muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: >1/1000,1-9/1000000 (United Kingdom),1-9/100000 (Europe); Age of onset: Adult,Elderly; Age of death: elderly,normal life expectancy
Penetrance: decade-specific cumulative penetrance for individuals with an autosomal dominant (gcn)13 pathogenic variant [brais et al 1997]:...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Muscle diseases
ICD10: 30 29
NIH Rare Diseases:47 Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by slowly progressing muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Onset is typically during adulthood, most often between 40 and 60 years of age. Symptoms may include: eyelid drooping (ptosis), arm and leg weakness, and difficulty swallowing (dysphagia). There are two types of OPMD, 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.Treatment depends on the signs and symptoms present in each individual. Ptosis and dysphagia can be managed with surgery; however, recurrence of symptoms commonly occurs 5-15 years after intervention. Last updated: 6/14/2016
MalaCards based summary: Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to dysphagia and oculopharyngodistal myopathy, 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 Regulation of retinoblastoma protein and Translational Control. Affiliated tissues include tongue, skeletal muscle and eye, and related mouse phenotype muscle.
Genetics Home Reference:25 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.
UniProtKB/Swiss-Prot:69 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:70 Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally... more...
Description from OMIM:51 164300
GeneReviews for NBK1126
Human phenotypes related to Oculopharyngeal Muscular Dystrophy:63 53 (show all 21)
UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:facial paresis
Drugs for Oculopharyngeal Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy
MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:35
Tongue, Skeletal muscle, Eye, Smooth muscle, Testes, Hypothalamus
Articles related to Oculopharyngeal Muscular Dystrophy:(show top 50) (show all 237)
Clinvar genetic disease variations for Oculopharyngeal Muscular Dystrophy:5
Search GEO for disease gene expression data for Oculopharyngeal Muscular Dystrophy.
Cellular components related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:
Biological processes related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:
Molecular functions related to Oculopharyngeal Muscular Dystrophy according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet