Details of Disease

General Information of Disease (ID: DISGW7N3)

Disease Name Myopathy, lactic acidosis, and sideroblastic anemia
Synonyms
sideroblastic anemia and mitochondrial myopathy; sideroblastic anaemia and mitochondrial myopathy; myopathy with lactic acidosis and sideroblastic anemia; myopathy with lactic acidosis and sideroblastic anaemia; myopathy, lactic acidosis, and siderblastic anemia; myopathy, lactic acidosis, and siderblastic anaemia; myopathy, lactic acidosis and sideroblastic anemia; myopathy, lactic acidosis and sideroblastic anaemia; mitochondrial myopathy and sideroblastic anemia; mitochondrial myopathy and sideroblastic anaemia; MSA; MLASA
Definition
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
Disease Hierarchy
DISTW0J6: Congenital anemia
DIS9SA7V: Mitochondrial myopathy
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DISLT2PU: Inherited sideroblastic anemia
DISGW7N3: Myopathy, lactic acidosis, and sideroblastic anemia
Disease Identifiers
MONDO ID
MONDO_0000863
MESH ID
C536101
UMLS CUI
C1838103
MedGen ID
373888
Orphanet ID
2598
SNOMED CT ID
724138007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
YARS2 OT16G0TR Supportive Autosomal recessive [1]
PUS1 OTS2DQ0N Supportive Autosomal recessive [2]
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References

1 Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001.
2 Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). BMJ Case Rep. 2009;2009:bcr05.2009.1889. doi: 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9.