congenital myasthenic syndrome 14

Summary
Synonym
  • CMS14
  • CMSTA3
  • congenital myasthenic syndrome 14, with tubular aggregates
  • congenital myasthenic syndrome with tubular aggregates 3
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
Super Class
autosomal recessive disease congenital myasthenic syndrome
External Links
Disease Ontology
DOID:0110669
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
56737 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
313231 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
38374 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
403068 alg2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
446622 alg2.L ALG2, alpha-1,3/1,6-mannosyltransferase L homeolog Xenopus laevis (African clawed frog)
595052 alg2 ALG2, alpha-1,3/1,6-mannosyltransferase Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
173912 algn-2 Alpha-1,3/1,6-mannosyltransferase ALG2
Displaying 1 entry
Gene ID Gene Symbol Description Source
852815 ALG2 GDP-Man:Man(1)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 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