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:0002020 | Gastroesophageal reflux |
| HP:0002033 | Poor suck |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002355 | Difficulty walking |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0002421 | Poor head control |
| HP:0002515 | Waddling gait |
| HP:0002751 | Kyphoscoliosis |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002870 | Obstructive sleep apnea |
