myopathy, lactic acidosis, and sideroblastic anemia

MONDO:0000863Mondo

Findings

No curated finding names myopathy, lactic acidosis, and sideroblastic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0000863), read 2026-09-29. CC BY 4.0.

Features

19 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.

Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
DistichiasisHPOHP:0009743
- Very frequent (80% to 99% of cases)
EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
Generalized limb muscle atrophyHPOHP:0009055
- Very frequent (80% to 99% of cases)
High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
Hypotonia

Show the remaining 7

Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)

Genes

2 genes

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.

PUS1HGNC:15508
- Supportive · Orphanet · Autosomal recessive · 2021
YARS2HGNC:24249
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: congenital anemia
inborn mitochondrial myopathy
inherited sideroblastic anemia
mitochondrial oxidative phosphorylation disorder
Narrower terms (3): myopathy, lactic acidosis, and sideroblastic anemia 1
myopathy, lactic acidosis, and sideroblastic anemia 2
myopathy, lactic acidosis, and sideroblastic anemia 3

Other names

8 names

Resolves to: myopathy, lactic acidosis, and sideroblastic anemia

Also called: mitochondrial myopathy and sideroblastic anaemiamitochondrial myopathy and sideroblastic anemiaMLASAMSAmyopathy, lactic acidosis and sideroblastic anaemiamyopathy, lactic acidosis and sideroblastic anemiamyopathy, lactic acidosis, and siderblastic anaemiamyopathy, lactic acidosis, and siderblastic anemia