combined oxidative phosphorylation deficiency 42
MONDO:0030008Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 42 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 · Neonatal death
HPO, annotations 2026-09-02
Features
14 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
- 7 of 7 reported patients
- CardiomyopathyHPOHP:0001638
- 9 of 9 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 9 of 9 reported patients
- Decreased liver functionHPOHP:0001410
- 5 of 9 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 9 reported patients
- Decreased circulating cortisol levelHPOHP:0008163
- 1 of 2 reported patients
- Nonimmune hydrops fetalisHPOHP:0001790
- 3 of 9 reported patients · Antenatal onset
- HypoglycemiaHPOHP:0001943
- 2 of 9 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 9 reported patients · Fetal onset
- Premature birthHPOHP:0001622
- 2 of 9 reported patients · Congenital onset
- Decreased activity of mitochondrial complex IHPOHP:0011923
Show the remaining 2
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- Decreased activity of mitochondrial complex IVHPOHP:0008347
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.
- GATCHGNC:25068
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 42
- Also called
- COXPD42