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 / Organisms
congenital myasthenic syndrome 4C
Summary
- Synonym
-
- CMS Id
- CMS1D
- CMS4C
- FIM1
- congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
- congenital myasthenic syndrome type Id
- familial infantile myasthenia 1
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110679
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 42918 | nAChRalpha1 | nicotinic Acetylcholine Receptor alpha1 | |
| 42919 | nAChRalpha2 | nicotinic Acetylcholine Receptor alpha2 | |
| 42920 | nAChRbeta2 | nicotinic Acetylcholine Receptor beta2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003828 | Variable expressivity |
| HP:0001558 | Decreased fetal movement |
| HP:0000486 | Strabismus |
| HP:0003391 | Gowers sign |
| HP:0011463 | Childhood onset |
| HP:0002015 | Dysphagia |
| HP:0000597 | Ophthalmoparesis |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0000276 | Long face |
| HP:0003202 | Skeletal muscle atrophy |
