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congenital myasthenic syndrome 9

Summary

Synonym

CMS9
congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.

Super Class

autosomal recessive disease congenital myasthenic syndrome

External Links

Disease Ontology

DOID:0110670

Mondo Disease Ontology

MONDO:0014587

OMIM

616325

MGI genotype (from TogoID)

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
4593	MUSK	muscle associated receptor tyrosine kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
18198	Musk	muscle, skeletal, receptor tyrosine kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
81725	Musk	muscle associated receptor tyrosine kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
36445	Nrk	Neurospecific receptor kinase	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 32 in total

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HPO ID	HPO Term
HP:0002878	Respiratory failure
HP:0001324	Muscle weakness
HP:0003547	Shoulder girdle muscle weakness
HP:0000597	Ophthalmoparesis
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0002329	Drowsiness
HP:0000496	Abnormality of eye movement
HP:0003388	Easy fatigability
HP:0002091	Restrictive ventilatory defect
HP:0003458	EMG: myopathic abnormalities