congenital myasthenic syndrome 21

Summary
Synonym
  • CMS21
  • congenital myasthenic syndrome 21, presynaptic
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
Super Class
autosomal recessive disease congenital myasthenic syndrome
External Links
Disease Ontology
DOID:0110672
Mondo Disease Ontology
OMIM
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 51 - 60 of 64 in total
HPO ID HPO Term
HP:0004661 Frontalis muscle weakness
HP:0004885 Episodic respiratory distress
HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0005943 Respiratory arrest
HP:0007178 Motor polyneuropathy
HP:0008443 Neuropathic spinal arthropathy
HP:0009053 Distal lower limb muscle weakness
HP:0010307 Stridor
HP:0010536 Central sleep apnea
HP:0011469 Nasal regurgitation
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