Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
congenital myasthenic syndrome 3A
Summary
- Synonym
-
- CMS3A
- congenital myasthenic syndrome 3A, slow-channel
- Definition
- A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
- Super Class
- autosomal dominant disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110666
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07001 | Acetylcholine receptor subunit delta |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02716 | Acetylcholine receptor subunit delta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002878 | Respiratory failure |
| HP:0001324 | Muscle weakness |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0000597 | Ophthalmoparesis |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0002329 | Drowsiness |
| HP:0000496 | Abnormality of eye movement |
| HP:0003388 | Easy fatigability |
| HP:0003803 | Type 1 muscle fiber predominance |
