Inborn mitochondrial metabolism disorder
MONDO:0004069Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Also known as: mitochondrial disease, mitochondrial genetic disorders, mitochondrial metabolism disease
129 clinical trials for this condition and its sub-types, 59 tagged with Inborn mitochondrial metabolism disorder itself.
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Sub-types of Inborn mitochondrial metabolism disorder
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Mitochondrial oxidative phosphorylation disorder 3 trials · 58 incl. sub-types
48 sub-types
- Leber hereditary optic neuropathy 18 trials Sub-types →
- Mitochondrial DNA depletion syndrome 3 trials · 11 incl. sub-types Sub-types →
- Leigh syndrome 9 trials Sub-types →
- Kearns-Sayre syndrome 5 trials
- Maternally-inherited diabetes and deafness 5 trials
- Mitochondrial respiratory chain complex deficiency 4 trials · 5 incl. sub-types Sub-types →
- Deafness, aminoglycoside-induced 4 trials
- NARP syndrome 3 trials
- Autosomal dominant optic atrophy, classic form 3 trials
- Coenzyme Q10 deficiency 3 trials Sub-types →
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3 trials
- Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
- Leber plus disease 1 trial · 2 incl. sub-types Sub-types →
- Ataxia neuropathy spectrum 2 trials Sub-types →
- Pontocerebellar hypoplasia type 6 2 trials
- Hereditary spastic paraplegia 7 1 trial
- Charcot-Marie-Tooth disease recessive intermediate D 0 trials
- Charcot-Marie-Tooth disease type 4K 0 trials
- FASTKD2-related infantile mitochondrial encephalomyopathy 0 trials
- Perrault syndrome 0 trials Sub-types →
- Zellweger-like syndrome without peroxisomal anomalies 0 trials
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 trials
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 0 trials Sub-types →
- Autosomal dominant mitochondrial myopathy with exercise intolerance 0 trials
- Autosomal dominant optic atrophy and peripheral neuropathy 0 trials
- Autosomal recessive optic atrophy, OPA7 type 0 trials
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 trials
- Chronic diarrhea with villous atrophy 0 trials
- Combined oxidative phosphorylation deficiency 0 trials Sub-types →
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
- Encephalopathy due to mitochondrial and peroxisomal fission defect 0 trials Sub-types →
- Fatal infantile encephalocardiomyopathy 0 trials Sub-types →
- Hereditary spastic paraplegia 55 0 trials
- Hereditary spastic paraplegia 77 0 trials
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 trials
- Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 0 trials
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 0 trials
- Maternally-inherited mitochondrial dystonia 0 trials
- Maternally-inherited progressive external ophthalmoplegia 0 trials
- Mitochondrial DNA maintenance syndrome 0 trials
- Mitochondrial non-syndromic sensorineural hearing loss 0 trials Sub-types →
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 0 trials
- Optic atrophy 3 0 trials
- Periodic paralysis with later-onset distal motor neuropathy 0 trials
- Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 0 trials
- Spastic ataxia 3 0 trials
- Spastic ataxia 4 0 trials
- Spinocerebellar ataxia type 28 0 trials
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Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types
24 sub-types
- Mitochondrial encephalomyopathy 3 trials · 15 incl. sub-types Sub-types →
- Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types Sub-types →
- Barth syndrome 5 trials
- Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
- Mitochondrial trifunctional protein deficiency 3 trials Sub-types →
- Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
- Adenosine monophosphate deaminase deficiency 1 trial
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
- COX deficiency, benign infantile mitochondrial myopathy 0 trials
- X-linked recessive mitochondrial myopathy 0 trials
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 0 trials Sub-types →
- Autosomal dominant mitochondrial myopathy with exercise intolerance 0 trials
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
- Fatal infantile encephalocardiomyopathy 0 trials Sub-types →
- Lethal infantile mitochondrial myopathy 0 trials
- Maternally-inherited progressive external ophthalmoplegia 0 trials
- Mitochondrial complex I deficiency, nuclear type 1 0 trials
- Mitochondrial complex II deficiency, nuclear type 0 trials Sub-types →
- Mitochondrial myopathy with a defect in mitochondrial-protein transport 0 trials
- Mitochondrial myopathy with diabetes 0 trials
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 0 trials
- Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0 trials
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 trials
- Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 trials
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Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types
7 sub-types
- Pyruvate dehydrogenase E1-alpha deficiency 2 trials
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Lipoic acid synthetase deficiency 0 trials
- Pyruvate dehydrogenase E1-beta deficiency 0 trials
- Pyruvate dehydrogenase E2 deficiency 0 trials
- Pyruvate dehydrogenase E3-binding protein deficiency 0 trials
- Pyruvate dehydrogenase phosphatase deficiency 0 trials
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Histiocytoid cardiomyopathy 3 trials
1 sub-type
- Cardiac lipidosis, familial 0 trials
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Fumaric aciduria 2 trials
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1 sub-type
- Behr syndrome 0 trials
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5 sub-types
- Glutaric acidemia IIa 0 trials
- Glutaric acidemia IIb 0 trials
- Glutaric acidemia IIc 0 trials
- Multiple acyl-CoA dehydrogenase deficiency, mild type 0 trials
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 0 trials
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Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
6 sub-types
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
- Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
- Lipoic acid synthetase deficiency 0 trials
- Lipoyl transferase 1 deficiency 0 trials
- Spasticity-ataxia-gait anomalies syndrome 0 trials
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HSD10 mitochondrial disease 0 trials
3 sub-types
- HSD10 disease, atypical type 0 trials
- HSD10 disease, infantile type 0 trials
- HSD10 disease, neonatal type 0 trials
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Hypotonia-cystinuria syndrome 0 trials
1 sub-type
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2 sub-types
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Oxoglutaricaciduria 0 trials
Most studied deeper sub-types
MELAS syndrome
(13)
MERRF syndrome
(5)
Mitochondrial DNA depletion syndrome, myopathic form
(4)
Mitochondrial DNA depletion syndrome 4a
(3)
Mitochondrial complex I deficiency
(2)
Recessive mitochondrial ataxia syndrome
(2)
Autosomal dominant progressive external ophthalmoplegia
(1)
Maternally-inherited Leigh syndrome
(1)
MELAS syndrome caused by mutation in MTTL1
(1)
Mitochondrial complex IV deficiency, nuclear-type
(1)
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
(1)
Optic atrophy with demyelinating disease of CNS
(1)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
(1)
Spinocerebellar ataxia with epilepsy
(1)
AFG3L2-related optic atrophy and/or spastic ataxia spectrum
(0)
Autosomal recessive ataxia due to ubiquinone deficiency
(0)
Autosomal recessive progressive external ophthalmoplegia
(0)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
(0)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
(0)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
(0)