combined oxidative phosphorylation deficiency 52
MONDO:0030311Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 52 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
24 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.
- AminoaciduriaHPOHP:0003355
- 2 of 2 reported patients
- AnorexiaHPOHP:0002039
- 3 of 3 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Hepatic steatosisHPOHP:0001397
- 2 of 2 reported patients
- HyperglycinemiaHPOHP:0002154
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 6 of 6 reported patients
- LethargyHPOHP:0001254
- 6 of 6 reported patients
- Metabolic acidosisHPOHP:0001942
- 3 of 3 reported patients
- Disseminated intravascular coagulationHPOHP:0005521
- 4 of 5 reported patients
Show the remaining 12
- HyperalaninemiaHPOHP:0003348
- 2 of 3 reported patients
- HypoglycemiaHPOHP:0001943
- 4 of 6 reported patients
- LacticaciduriaHPOHP:0003648
- 2 of 3 reported patients
- Renal insufficiencyHPOHP:0000083
- 2 of 3 reported patients
- Respiratory failureHPOHP:0002878
- 4 of 6 reported patients
- SeizureHPOHP:0001250
- 2 of 5 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.
- NFS1HGNC:15910
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 52
- Also called
- COXPD52