Congenital Myasthenic Syndrome (CMS)

Alias:
Congenital Myasthenia
Congenital Myasthenic Syndromes
Cms
Myasthenic Syndromes, Congenital
Congenital and Developmental Myasthenia
Congenital Myasthenic Syndrome Ib
Myasthenic Syndromes Congenital
Myasthenic Syndrome, Congenital
Developmental Myasthenia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Myasthenic Syndrome, also known as congenital myasthenia, is related to myasthenic syndrome, congenital, 1a, slow-channel and myasthenic syndrome, congenital, 5, and has symptoms including facial paresis An important gene associated with Congenital Myasthenic Syndrome is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit), and among its related pathways/superpathways are Transmission across Chemical Synapses and Acetylcholine binding and downstream events. The drugs Racephedrine and Sympathomimetics have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are ptosis and dysphagia
Related ID:
MESH:D020294
ICD11:1515367530

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/1000000
55
372
119

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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