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congenital myasthenic syndrome 12
Summary
- Synonym
-
- CMS12
- congenital myasthenia 12 with tubular aggregates
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110660
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06210 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002421 | Poor head control |
| HP:0009046 | Difficulty running |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0001382 | Joint hypermobility |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0100301 | Muscle fiber tubular inclusions |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0002355 | Difficulty walking |
| HP:0003551 | Difficulty climbing stairs |
| HP:0001290 | Generalized hypotonia |
| 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 |
