congenital myasthenic syndrome 12

Summary
Synonym
  • CMS12
  • congenital myasthenia 12 with tubular aggregates
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
Super Class
autosomal recessive disease congenital myasthenic syndrome
Disease Ontology
DOID:0110660
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14583 Gfpt1 glutamine fructose-6-phosphate transaminase 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entry 41 - 41 of 41 in total
HPO ID HPO Term
HP:0011463 Childhood onset
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: December 9, 2024