congenital myasthenic syndrome
Information
- Disease name
- congenital myasthenic syndrome
- Disease ID
- DOID:3635
- Description
- "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)." [url:http\://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| RAPSN | 11 | 47,437,764 | 47,449,136 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00872950 | Approved for marketing | 3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS) | |||
| NCT01203592 | Completed | Phase 1 | Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes | September 2010 | August 2013 |
| NCT05408702 | Completed | Exercise in Autoimmune Myasthenia Gravis and Myasthenic Syndromes | November 12, 2021 | May 15, 2022 | |
| NCT01474980 | Completed | Pregnancy Outcomes in Congenital Myasthenie Syndrome | January 2010 | October 2011 | |
| NCT03062631 | No longer available | Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia | |||
| NCT02189720 | No longer available | Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome | |||
| NCT06436742 | Not yet recruiting | Phase 1 | A Phase 1b Study to Investigate Safety and Tolerability of ARGX-119 in Adult Participants With DOK7-Congenital Myasthenic Syndromes (CMS) | June 2024 | October 2025 |
| NCT01403402 | Recruiting | Congenital Muscle Disease Study of Patient and Family Reported Medical Information | September 2009 | September 2029 | |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT06078553 | Recruiting | A Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes (CMS) | February 13, 2024 | July 2025 |
- Disase is a (Disease Ontology)
- DOID:439
- Cross Reference ID (Disease Ontology)
- GARD:11902
- Cross Reference ID (Disease Ontology)
- MESH:D020294
- Cross Reference ID (Disease Ontology)
- MIM:PS601462
- Cross Reference ID (Disease Ontology)
- NCI:C84647
- Cross Reference ID (Disease Ontology)
- ORDO:590
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:230672006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0751882
- OrphaNumber from OrphaNet (Orphanet)
- 590
- MedGen concept unique identifier (MedGen Concept name)
- C0751882
- MedGen unique identifier (MedGen Concept name)
- 155650