Oculopharyngeal Muscular Dystrophy malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 25GTR, 37MeSH, 66UMLS, 48Novoseek, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Oculopharyngeal Muscular Dystrophy:
Orphanet epidemiological data:52
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
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Muscle diseases
ICD10: 29 28
NIH Rare Diseases:46 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 muscular dystrophy and dysphagia, 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 is C-MYB transcription factor network. Affiliated tissues include tongue, skeletal muscle and eye.
UniProtKB/Swiss-Prot:68 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.
Genetics Home Reference:24 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.
Wikipedia:69 Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally... more...
Description from OMIM:50 164300
GeneReviews summary for NBK1126
Symptoms by clinical synopsis from OMIM:164300
Clinical features from OMIM:164300
Symptoms:52 (show all 10)
HPO human phenotypes related to Oculopharyngeal Muscular Dystrophy:(show all 16)
UMLS symptoms related to Oculopharyngeal Muscular Dystrophy:facial paresis
Drugs for Oculopharyngeal Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Oculopharyngeal Muscular Dystrophy
MalaCards organs/tissues related to Oculopharyngeal Muscular Dystrophy:34
Tongue, Skeletal muscle, Eye, Smooth muscle, Testes, Hypothalamus
Articles related to Oculopharyngeal Muscular Dystrophy:(show top 50) (show all 231)
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:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet