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myopathy, lactic acidosis, and sideroblastic anemia 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.
Uniprot Description A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia.
Mondo Term and Equivalent IDs
MONDO:0013307:  myopathy, lactic acidosis, and sideroblastic anemia 2
DOID:0111186: 
UMLS:C3150802: