congenital myasthenic syndrome 13

Summary
Synonym
  • CMS13
  • CMSTA2
  • congenital myasthenic syndrome 13 with tubular aggregates
  • congenital myasthenic syndrome with tubular aggregates 2
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
Super Class
autosomal recessive disease congenital myasthenic syndrome
External Links
Disease Ontology
DOID:0110676
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
13478 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
300668 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
34711 Alg7 Alg7 dolichyl-phosphate N-acetylglucosaminephosphotransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
566539 dpagt1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100487779 dpagt1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) Xenopus tropicalis (tropical clawed frog)
108696438 dpagt1.L dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
190436 algn-7 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852545 ALG7 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 38 in total
HPO ID HPO Term
HP:0003391 Gowers sign
HP:0003394 Muscle spasm
HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473 Fatigable weakness
HP:0003551 Difficulty climbing stairs
HP:0003691 Scapular winging
HP:0003701 Proximal muscle weakness
HP:0003803 Type 1 muscle fiber predominance
HP:0006380 Knee flexion contracture
HP:0009028 Generalized weakness of limb muscles
Displaying all 5 entries
Gene ID Gene Symbol Description
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
199857 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase

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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