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 1 - 10 of 34 in total
HPO ID HPO Term
HP:0007210 Lower limb amyotrophy
HP:0003547 Shoulder girdle muscle weakness
HP:0012548 Fatty replacement of skeletal muscle
HP:0001638 Cardiomyopathy
HP:0009027 Foot dorsiflexor weakness
HP:0003731 Quadriceps muscle weakness
HP:0001324 Muscle weakness
HP:0006251 Limited wrist extension
HP:0010628 Facial palsy
HP:0003438 Absent Achilles reflex
Displaying 1 entry
Gene ID Gene Symbol Description
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

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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