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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Congenital myasthenic syndrome | |
| Synonyms |
CMS |
|
| Definitions |
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_590 |
|
| alternative_term |
CMS
|
|
| definition |
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
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|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=590 |
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| has_age_of_onset |
Infancy Neonatal
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|
| has_inheritance |
Autosomal recessive Autosomal dominant
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|
| hasDbXref |
OMIM:254190 OMIM:610542 ICD-11:8C61 MedDRA:10083942 OMIM:614198 OMIM:616304 OMIM:616720 OMIM:616314 OMIM:616313 OMIM:614750 OMIM:254300 OMIM:615120 OMIM:254210 OMIM:617239 OMIM:603034 OMIM:601462 UMLS:C0751882 OMIM:619461 OMIM:617143 OMIM:608930 OMIM:608931 OMIM:616224 OMIM:616227 OMIM:616228 OMIM:616330 OMIM:616040 OMIM:616322 OMIM:616324 OMIM:616325 OMIM:616326 OMIM:616323 OMIM:616321 OMIM:605809 ICD-10:G70.2 MeSH:D020294
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|
| label |
Congenital myasthenic syndrome
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|
| notation |
ORPHA:590
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_98578 |
|
| prefixIRI |
ORDO:Orphanet_590
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|
| prefLabel |
Congenital myasthenic syndrome
|
|
| present_in |
United Kingdom AND has_point_prevalence_average_value : 0.92 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_98578 |
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| subClassOf |
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