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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610542
http://purl.bioontology.org/ontology/OMIM/610542
|
|---|---|
| Preferred Name | MYASTHENIC SYNDROME, CONGENITAL, 12 |
| Synonyms |
CMSTA1
CMS12
MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMSTA1
CMS12
MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1
|
|---|---|
| prefLabel | MYASTHENIC SYNDROME, CONGENITAL, 12
|
| Gene Symbol |
GFPT1
GFPT1L
MSLG
GFAT1
CMSTA1
CMS12
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| Scope Statement | Caused by mutation in the glutamine:fructose-6-phosphate aminotransferase 1 gene (GFPT1, 138292.0001) [MOLECULAR BASIS]
Distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300) [MISCELLANEOUS]
Favorable response to acetylcholinesterase inhibitors [MISCELLANEOUS]
Onset in first decade [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 610542
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3552335
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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