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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
- 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:0012515 | Hip flexor weakness |
| HP:0009077 | Weakness of long finger extensor muscles |
