Oculopharyngeal Muscular Dystrophy 1 (OPMD1)

Alias:
Oculopharyngeal Muscular Dystrophy
Muscular Dystrophy, Oculopharyngeal
Opmd
Progressive Muscular Dystrophy, Oculopharyngeal Type
Dystrophy, Muscular, Oculopharyngeal
Dystrophy, Oculopharyngeal Muscular
Muscular Dystrophy Oculopharyngeal
Oculopharyngeal Dystrophy
Opmd1
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Oculopharyngeal Muscular Dystrophy 1, also known as oculopharyngeal muscular dystrophy, is related to ptosis and oculopharyngeal muscular dystrophy 2, and has symptoms including facial paresis An important gene associated with Oculopharyngeal Muscular Dystrophy 1 is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways/superpathways is Processing of Capped Intronless Pre-mRNA. Affiliated tissues include eye and tongue, and related phenotypes are ptosis and myopathy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
42
291
129

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top