mitochondrial complex I deficiency, nuclear type 1
MONDO:0100224Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
35 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.
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- CyanosisHPOHP:0000961
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 3 of 3 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperalaninemiaHPOHP:0003348
- 2 of 2 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient · Male
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
Show the remaining 23
- Increased CSF lactateHPOHP:0002490
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 2 of 2 reported patients
- LethargyHPOHP:0001254
- 2 of 2 reported patients
- Reduced eye contactHPOHP:0000817
- 2 of 2 reported patients
- Respiratory failureHPOHP:0002878
- 2 of 2 reported patients
- Severe lactic acidosisHPOHP:0004900
- 1 of 1 reported patient
Genes
2 genes
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.
Where it sits
Other names
4 names
Resolves to: mitochondrial complex I deficiency, nuclear type 1
- Also called
- MC1DN1mitochondrial NADH dehydrogenase component of Complex I, deficiency ofNADH-coenzyme Q reductase deficiencyNADH:Q(1) oxidoreductase deficiency