myopathy, lactic acidosis, and sideroblastic anemia 2
Findings
No curated finding names myopathy, lactic acidosis, and sideroblastic anemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013307), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 3 of 3 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 3 of 3 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 3 reported patients
- Lactic acidosisHPOHP:0003128
- 3 of 3 reported patients
- Ragged-red muscle fibers
Show the remaining 6
- Failure to thriveHPOHP:0001508
- 1 of 3 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 3 reported patients
- HypotoniaHPOHP:0001252
- 1 of 3 reported patients
- Motor delayHPOHP:0001270
- 1 of 3 reported patients
- PallorHPOHP:0000980
- 1 of 3 reported patients
- Respiratory distressHPOHP:0002098
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- YARS2HGNC:24249
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
6 names
Resolves to: myopathy, lactic acidosis, and sideroblastic anemia 2
- Also called
- mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2myopathy, lactic acidosis, and sideroblastic Anaemia type 2myopathy, lactic acidosis, and sideroblastic Anemia type 2YARS2 mitochondrial myopathy and sideroblastic anaemiaYARS2 mitochondrial myopathy and sideroblastic anemia