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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/603034
http://purl.bioontology.org/ontology/OMIM/603034
|
|---|---|
| Preferred Name | MYASTHENIC SYNDROME, CONGENITAL, 5 |
| Synonyms |
ENGEL CONGENITAL MYASTHENIC SYNDROME
CMS1C, FORMERLY
MYASTHENIC SYNDROME, CONGENITAL, ENGEL TYPE
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
CONGENITAL MYASTHENIC SYNDROME TYPE Ic, FORMERLY
CMS5
EAD
CMS Ic, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ENGEL CONGENITAL MYASTHENIC SYNDROME
CMS1C, FORMERLY
MYASTHENIC SYNDROME, CONGENITAL, ENGEL TYPE
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
CONGENITAL MYASTHENIC SYNDROME TYPE Ic, FORMERLY
CMS5
EAD
CMS Ic, FORMERLY
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|---|---|
| prefLabel | MYASTHENIC SYNDROME, CONGENITAL, 5
|
| Gene Symbol |
EAD
COLQ
CMS5
|
| Scope Statement | Symptoms progress with worsening myopathy [MISCELLANEOUS]
No response or worsening with acetylcholinesterase inhibitors [MISCELLANEOUS]
Phenotypic variation in severity and symptoms [MISCELLANEOUS]
Onset usually in infancy [MISCELLANEOUS]
Later childhood onset has been reported [MISCELLANEOUS]
Caused by mutation in the collagenic tail of endplate acetylcholinesterase gene (COLQ, 603033.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p25
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 603034
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1864233
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |