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congenital myasthenic syndrome 13
Summary
- Synonym
-
- CMS13
- CMSTA2
- congenital myasthenic syndrome 13 with tubular aggregates
- congenital myasthenic syndrome with tubular aggregates 2
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110676
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100487779 | dpagt1 | dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) | Xenopus tropicalis (tropical clawed frog) | |
| 108696438 | dpagt1.L | dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H3H5 | UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000218 | High palate |
| HP:0000508 | Ptosis |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001371 | Flexion contracture |
| HP:0001382 | Joint hypermobility |
| HP:0001763 | Pes planus |
| HP:0002355 | Difficulty walking |
| HP:0002359 | Frequent falls |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
| 199857 | ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase |
