Details of Disease

General Information of Disease (ID: DISVX8ZU)

Disease Name Myopathy, lactic acidosis, and sideroblastic anemia 1
Synonyms
MLASA1; mitochondrial myopathy and sideroblastic anaemia; mitochondrial myopathy and sideroblastic anemia; myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1; myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1; PUS1 myopathy, lactic acidosis, and sideroblastic anaemia; PUS1 myopathy, lactic acidosis, and sideroblastic anemia; myopathy, lactic acidosis, and sideroblastic anemia 1
Definition Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.
Disease Hierarchy
DISGW7N3: Myopathy, lactic acidosis, and sideroblastic anemia
DISVX8ZU: Myopathy, lactic acidosis, and sideroblastic anemia 1
Disease Identifiers
MONDO ID
MONDO_0024553
UMLS CUI
C4551958
OMIM ID
600462
MedGen ID
1634824

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
PUS1 OTS2DQ0N Definitive Autosomal recessive [1]
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References

1 Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet. 2007 Mar;44(3):173-80. doi: 10.1136/jmg.2006.045252. Epub 2006 Oct 20.