Oculopharyngeal Muscular Dystrophy 1 (OPMD1)

Oculopharyngeal Muscular Dystrophy 1(来自ICD-11)
别称:
Oculopharyngeal Muscular Dystrophy
Muscular Dystrophy, Oculopharyngeal
Opmd
Progressive Muscular Dystrophy, Oculopharyngeal Type
Dystrophy, Muscular, Oculopharyngeal
Dystrophy, Oculopharyngeal Muscular
Muscular Dystrophy Oculopharyngeal
Oculopharyngeal Dystrophy
Opmd1
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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
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参考文献
MALACARDS
--
Unknown
1-9/100000
42
291
129

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靶点药物

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MGI
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