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X-linked myopathy with excessive autophagy

Disease Summary
Associated Targets (1)
Tdark

1


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Mondo Description X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.
Uniprot Description A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells.
Disease Ontology Description A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
Mondo Term and Equivalent IDs
MONDO:0010684:  X-linked myopathy with excessive autophagy
GARD:0003892: 
MESH:C536522: 
Orphanet:25980: 
SCTID:719815005: 
UMLS:C1839615: 
UMLS:C2931230: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)