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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601462
http://purl.bioontology.org/ontology/OMIM/601462
|
|---|---|
| Preferred Name | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
| Synonyms |
CMS2A, FORMERLY
CMS1A
MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY
CMS IIa, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMS2A, FORMERLY
CMS1A
MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY
CMS IIa, FORMERLY
|
|---|---|
| prefLabel | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
|
| Gene Symbol |
CHRNA1
CMS1A
ACHRD
CMS1B
|
| Scope Statement | Fluoxetine therapy may be effective [MISCELLANEOUS]
Quinidine therapy may be effective [MISCELLANEOUS]
Poor response to acetylcholinesterase inhibitors [MISCELLANEOUS]
Progressive disorder due to secondary myopathy [MISCELLANEOUS]
Exacerbation of symptoms during or after pregnancy [MISCELLANEOUS]
Usually symptomatic in adulthood with history of weakness since infancy or childhood [MISCELLANEOUS]
Variable age at onset [MISCELLANEOUS]
Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (CHRNA1, 100690.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q24-q32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 601462
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4084823
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |