GNE myopathy

Summary
Synonym
  • Distal myopathy, Nonaka type
  • Hereditary Inclusion Body Myopathy
  • Nonaka myopathy
  • inclusion body myopathy 2
Definition
A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.
Super Class
autosomal recessive disease myopathy
External Links
Disease Ontology
DOID:0080718
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
50798 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
114711 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 34 in total
HPO ID HPO Term
HP:0100299 Muscle fiber inclusion bodies
HP:0003691 Scapular winging
HP:0008180 Mildly elevated creatine kinase
HP:0000821 Hypothyroidism
HP:0003724 Shoulder girdle muscle atrophy
HP:0008963 Tibialis muscle weakness
HP:0001436 Abnormality of the foot musculature
HP:0012515 Hip flexor weakness
HP:0003458 EMG: myopathic abnormalities
HP:0006467 Limited shoulder movement
Displaying 1 entry
Gene ID Gene Symbol Description
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

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Acknowledgements

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Last updated: August 19, 2024