Myasthenic Syndrome, Congenital, 18 (CMS18)

Alias:
Congenital Myasthenic Syndrome 18
Cms18
Myasthenic Syndrome, Congenital, 18, with Intellectual Disability and Ataxia
Myasthenic Syndrome, Congenital, 18 with Intellectual Disability and Ataxia
Myasthenic Syndrome, Congenital, Type 18
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myasthenic Syndrome, Congenital, 18, also known as congenital myasthenic syndrome 18, is related to presynaptic congenital myasthenic syndromes and congenital myasthenic syndrome. An important gene associated with Myasthenic Syndrome, Congenital, 18 is SNAP25 (Synaptosome Associated Protein 25), and among its related pathways/superpathways are Uptake and actions of bacterial toxins and Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. Related phenotypes are ptosis and ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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6
37
1

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
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No data available

Disease Model

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

References Literature

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PMID
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IF
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