hereditary myopathy with lactic acidosis due to ISCU deficiency
Findings
No curated finding names hereditary myopathy with lactic acidosis due to ISCU deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Definition from the Mondo Disease Ontology (MONDO:0009706), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPO
Show the remaining 6
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- OphthalmoparesisHPOHP:0000597
- 1 of 1 reported patient
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 1 reported patient
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.
- ISCUHGNC:29882
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: hereditary myopathy with lactic acidosis due to ISCU deficiency
- Also called
- aconitase deficiencyiron-sulfur cluster deficiency myopathyISCU myopathymyopathy with exercise intolerance, Swedish type