myopathy, lactic acidosis, and sideroblastic anemia 1
Findings
No curated finding names myopathy, lactic acidosis, and sideroblastic anemia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024553), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 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
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- Ragged-red muscle fibersHPOHP:0003200
- 1 of 1 reported patient
- Sideroblastic anemiaHPOHP:0001924
- 2 of 2 reported patients
- Depressed nasal ridge
Show the remaining 9
- HypopituitarismHPOHP:0040075
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 2 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 1 of 2 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.
- PUS1HGNC:15508
- Definitive · G2P · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: myopathy, lactic acidosis, and sideroblastic anemia 1
- Also called
- myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1PUS1 myopathy, lactic acidosis, and sideroblastic anaemiaPUS1 myopathy, lactic acidosis, and sideroblastic anemia