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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital myasthenic syndrome 5
Summary
- Synonym
-
- CMS Ic
- CMS5
- EAD
- Engel congenital myasthenic syndrome
- congenital myasthenic syndrome Engel type
- congenital myasthenic syndrome type Ic
- end plate acetylcholinesterase deficiency
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110667
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22303 | Acetylcholinesterase |
