mitochondrial complex I deficiency, nuclear type 29
MONDO:0032633Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 29 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
- Juvenile onset · Childhood onset · Late young adult onset
HPO, annotations 2026-09-02
Features
15 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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 3 of 3 reported patients
- Exercise intoleranceHPOHP:0003546
- 3 of 3 reported patients
- Exercise-induced myalgiaHPOHP:0003738
- 3 of 3 reported patients
- HyperalaninemiaHPOHP:0003348
- 3 of 3 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 3 reported patients
- Increased muscle fatiguabilityHPOHP:0003750
- 3 of 3 reported patients
- Mitochondrial swellingHPOHP:0030774
- 1 of 1 reported patient
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 2 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 3 reported patients
- DyspneaHPOHP:0002094
- 1 of 3 reported patients
- FatigueHPOHP:0012378
- 1 of 3 reported patients
- Lactic acidosisHPOHP:0003128
- 1 of 3 reported patients
Show the remaining 3
- LacticaciduriaHPOHP:0003648
- 1 of 3 reported patients
- PalpitationsHPOHP:0001962
- 1 of 3 reported patients
- VomitingHPOHP:0002013
- 1 of 3 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.
- TMEM126BHGNC:30883
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018