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Metadata
ID DOID:0080718
Name GNE myopathy
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.
https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2, https://pubmed.ncbi.nlm.nih.gov/29720219/, https://pubmed.ncbi.nlm.nih.gov/30338442/, https://rarediseases.org/rare-diseases/gne-myopathy/, https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy
Xrefs

GARD:9493

MESH:C536816

MESH:C538329

OMIM:605820

OMIM:617158

ORDO:602

SNOMEDCT_US_2020_09_01:702382000

UMLS_CUI:C1833373

UMLS_CUI:C1853926

Synonyms

Distal Myopathy with Rimmed Vacuoles [EXACT]

Distal myopathy, Nonaka type [EXACT]

Hereditary Inclusion Body Myopathy [EXACT]

inclusion body myopathy 2 [EXACT]

Nonaka myopathy [EXACT]

Parent Relationships

is_a myopathy

is_a autosomal recessive disease

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