Oculopharyngodistal Myopathy 1 (OPDM1)

Alias:
Oculopharyngodistal Myopathy
Opdm
Faciooculolaryngopharyngeal Myopathy with Distal and Respiratory Involvement
Oculopharyngeal Distal Myopathy
Folp-Dr
Opdm1
Myopathy, Oculopharyngodistal, Type 1
Myopathy, Oculopharyngodistal
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Oculopharyngodistal Myopathy 1, also known as oculopharyngodistal myopathy, is related to myopathy and neuronal intranuclear inclusion disease, and has symptoms including facial paresis An important gene associated with Oculopharyngodistal Myopathy 1 is LRP12 (LDL Receptor Related Protein 12). Affiliated tissues include eye and skeletal muscle, and related phenotypes are progressive external ophthalmoplegia and weight loss
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Unknown
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3
12
56

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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