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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.

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Sub-types

Leber hereditary optic neuropathy, autosomal recessive (0) Leber-like hereditary optic neuropathy, autosomal recessive 1 (0) Leber-like hereditary optic neuropathy, autosomal recessive 2 (0) Mitochondrial complex I deficiency, mitochondrial type (0) Mitochondrial complex I deficiency, mitochondrial type 1 (0) Mitochondrial complex I deficiency, nuclear type (0) Mitochondrial complex I deficiency, nuclear type 1 (0) Mitochondrial complex I deficiency, nuclear type 10 (0) Mitochondrial complex I deficiency, nuclear type 11 (0) Mitochondrial complex I deficiency, nuclear type 12 (0) Mitochondrial complex I deficiency, nuclear type 13 (0) Mitochondrial complex I deficiency, nuclear type 14 (0) Mitochondrial complex I deficiency, nuclear type 15 (0) Mitochondrial complex I deficiency, nuclear type 16 (0) Mitochondrial complex I deficiency, nuclear type 17 (0) Mitochondrial complex I deficiency, nuclear type 18 (0) Mitochondrial complex I deficiency, nuclear type 19 (0) Mitochondrial complex I deficiency, nuclear type 2 (0) Mitochondrial complex I deficiency, nuclear type 21 (0) Mitochondrial complex I deficiency, nuclear type 22 (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn mitochondrial metabolism disorder (58) Inborn errors of metabolism (45) Mitochondrial disease (40) Human disease (14) Developmental defect during embryogenesis (8) Mitochondrial respiratory chain complex deficiency (4) Mitochondrial oxidative phosphorylation disorder (3)
Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 4 Completed 3 Terminated 1
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