congenital myasthenic syndrome 15

Summary
Synonym
  • CMS15
  • congenital myasthenic syndrome 15 without tubular aggregates
Definition
A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
Super Class
autosomal recessive disease congenital myasthenic syndrome
External Links
Disease Ontology
DOID:0110658
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
199857 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
66789 Alg14 asparagine-linked glycosylation 14
Displaying 1 entry
Gene ID Gene Symbol Description Source
362031 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
32479 Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
450072 alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
100379745 alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit Xenopus tropicalis (tropical clawed frog)
108714370 alg14.L ALG14, UDP-N-acetylglucosaminyltransferase subunit L homeolog Xenopus laevis (African clawed frog)
108715652 alg14.S ALG14, UDP-N-acetylglucosaminyltransferase subunit S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
187398 algn-14 UDP-N-acetylglucosamine transferase subunit ALG14 homolog
Displaying 1 entry
Gene ID Gene Symbol Description Source
852362 ALG14 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase anchoring subunit ALG14
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q96F25 UDP-N-acetylglucosamine transferase subunit ALG14
The Human Phenotype Ontology
Displaying entries 1 - 10 of 36 in total
HPO ID HPO Term
HP:0000218 High palate
HP:0000508 Ptosis
HP:0001270 Motor delay
HP:0001284 Areflexia
HP:0001290 Generalized hypotonia
HP:0001371 Flexion contracture
HP:0001382 Joint hypermobility
HP:0001763 Pes planus
HP:0002355 Difficulty walking
HP:0002359 Frequent falls
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