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congenital myasthenic syndrome 14
Summary
- Synonym
-
- CMS14
- CMSTA3
- congenital myasthenic syndrome 14, with tubular aggregates
- congenital myasthenic syndrome with tubular aggregates 3
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110669
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003691 | Scapular winging |
| HP:0002359 | Frequent falls |
| HP:0009028 | Generalized weakness of limb muscles |
| HP:0002650 | Scoliosis |
| HP:0001371 | Flexion contracture |
| HP:0003394 | Muscle spasm |
| HP:0000218 | High palate |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0001270 | Motor delay |
| HP:0003701 | Proximal muscle weakness |
| 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 |
