Congenital Ptosis

Alias:
Congenital Blepharoptosis
Congenital Eyelid Ptosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Ptosis, also known as congenital blepharoptosis, is related to marcus gunn phenomenon and amblyopia. An important gene associated with Congenital Ptosis is MYH10 (Myosin Heavy Chain 10), and among its related pathways/superpathways are G-protein signaling G-Protein alpha-i signaling cascades and COPI-independent Golgi-to-ER retrograde traffic. The drugs Racepinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and heart, and related phenotypes are unilateral narrow palpebral fissure and congenital bilateral ptosis
Related ID:
ICD11:1561844189

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
XL
Newborn
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35
339
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Medical Symptom

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Gene & Mutation

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Related Drugs

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MGI
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References Literature

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