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
Displaying 1 entry
Gene ID Gene Symbol Description Source
1103 CHAT choline O-acetyltransferase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P28329 Choline O-acetyltransferase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 75 in total
HPO ID HPO Term
HP:0000218 High palate
HP:0000276 Long face
HP:0000308 Microretrognathia
HP:0000369 Low-set ears
HP:0000407 Sensorineural hearing impairment
HP:0000467 Neck muscle weakness
HP:0000508 Ptosis
HP:0000565 Esotropia
HP:0000602 Ophthalmoplegia
HP:0000639 Nystagmus
Displaying all 2 entries
Gene ID Gene Symbol Description
1103 CHAT choline O-acetyltransferase
375790 AGRN agrin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024