Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital myasthenic syndrome 6
Summary
- Synonym
-
- CMS Ia2
- CMS1A2
- CMS6
- CMSEA
- FIM
- FIMG2
- congenital myasthenic syndrome 6, presynaptic
- congenital myasthenic syndrome type Ia2
- congenital presynaptic myasthenic syndrome associated with episodic apnea
- familial infantile myasthenia
- familial infantile myasthenia gravis 2
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110671
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28329 | Choline O-acetyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002098 | Respiratory distress |
| HP:0003577 | Congenital onset |
| HP:0003402 | Decreased miniature endplate potentials |
