Details of Disease | DrugMAP

General Information of Disease (ID: DISX8JWC)

Disease Name	Myopathy, lactic acidosis, and sideroblastic anemia 2
Synonyms	MLASA2; myopathy, lactic acidosis, and sideroblastic Anaemia type 2; myopathy, lactic acidosis, and sideroblastic anemia 2; mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2; YARS2 mitochondrial myopathy and sideroblastic anemia; YARS2 mitochondrial myopathy and sideroblastic anaemia; mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2; myopathy, lactic acidosis, and sideroblastic Anemia type 2
Definition	Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.
Disease Hierarchy	DISGW7N3: Myopathy, lactic acidosis, and sideroblastic anemia DISX8JWC: Myopathy, lactic acidosis, and sideroblastic anemia 2
Disease Identifiers	MONDO ID MONDO_0013307 UMLS CUI C3150802 OMIM ID 613561 MedGen ID 462152

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
YARS2	OT16G0TR	Definitive	Autosomal recessive	[1]
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References

1	The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. 2018 Dec;103(12):2008-2015. doi: 10.3324/haematol.2017.182659. Epub 2018 Jul 19.