Mitochondrial complex I deficiency

MONDO:0100133

A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.

Also known as: NADH coenzyme Q reductase deficiency, complex 1 mitochondrial respiratory chain deficiency, isolated NADH-CoQ reductase deficiency, isolated NADH-coenzyme Q reductase deficiency, isolated NADH-ubiquinone reductase deficiency, isolated complex I deficiency, isolated mitochondrial respiratory chain complex I deficiency, mitochondrial respiratory chain complex I deficiency

14 clinical trials for this condition and its sub-types, 2 tagged with Mitochondrial complex I deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Mitochondrial respiratory chain complex deficiency (5)

Sub-types of Mitochondrial complex I deficiency

Mitochondrial complex I deficiency, mitochondrial type 0 trials
1 sub-type
- Mitochondrial complex I deficiency, mitochondrial type 1 0 trials
Mitochondrial complex I deficiency, nuclear type 0 trials
37 sub-types
- Leber hereditary optic neuropathy, autosomal recessive 0 trials Sub-types →
- Mitochondrial complex I deficiency, nuclear type 1 0 trials
- Mitochondrial complex I deficiency, nuclear type 10 0 trials
- Mitochondrial complex I deficiency, nuclear type 11 0 trials
- Mitochondrial complex I deficiency, nuclear type 12 0 trials
- Mitochondrial complex I deficiency, nuclear type 13 0 trials
- Mitochondrial complex I deficiency, nuclear type 14 0 trials
- Mitochondrial complex I deficiency, nuclear type 15 0 trials
- Mitochondrial complex I deficiency, nuclear type 16 0 trials
- Mitochondrial complex I deficiency, nuclear type 17 0 trials
- Mitochondrial complex I deficiency, nuclear type 18 0 trials
- Mitochondrial complex I deficiency, nuclear type 19 0 trials
- Mitochondrial complex I deficiency, nuclear type 2 0 trials
- Mitochondrial complex I deficiency, nuclear type 21 0 trials
- Mitochondrial complex I deficiency, nuclear type 22 0 trials
- Mitochondrial complex I deficiency, nuclear type 23 0 trials
- Mitochondrial complex I deficiency, nuclear type 24 0 trials
- Mitochondrial complex I deficiency, nuclear type 25 0 trials
- Mitochondrial complex I deficiency, nuclear type 26 0 trials
- Mitochondrial complex I deficiency, nuclear type 27 0 trials
- Mitochondrial complex I deficiency, nuclear type 28 0 trials
- Mitochondrial complex I deficiency, nuclear type 29 0 trials
- Mitochondrial complex I deficiency, nuclear type 3 0 trials
- Mitochondrial complex I deficiency, nuclear type 30 0 trials
- Mitochondrial complex I deficiency, nuclear type 31 0 trials
- Mitochondrial complex I deficiency, nuclear type 32 0 trials
- Mitochondrial complex I deficiency, nuclear type 33 0 trials
- Mitochondrial complex I deficiency, nuclear type 34 0 trials
- Mitochondrial complex I deficiency, nuclear type 36 0 trials
- Mitochondrial complex I deficiency, nuclear type 37 0 trials
- Mitochondrial complex I deficiency, nuclear type 39 0 trials
- Mitochondrial complex I deficiency, nuclear type 4 0 trials
- Mitochondrial complex I deficiency, nuclear type 5 0 trials
- Mitochondrial complex I deficiency, nuclear type 6 0 trials
- Mitochondrial complex I deficiency, nuclear type 7 0 trials
- Mitochondrial complex I deficiency, nuclear type 8 0 trials
- Mitochondrial complex I deficiency, nuclear type 9 0 trials

Most studied deeper sub-types

Leber-like hereditary optic neuropathy, autosomal recessive 1 (0) Leber-like hereditary optic neuropathy, autosomal recessive 2 (0)

Including sub-types (14) Tagged with Mitochondrial complex I deficiency (2)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 4 Completed 3 Terminated 1

Mitochondrial complex I deficiency

Where it sits in the disease tree

Most studied deeper sub-types

New drug shows promise for rare energy disorder

Long-Term safety of mitochondrial drug confirmed in 101 patients

New drug aims to help mitochondrial disease patients walk farther