Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria |
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Mitochondrial lysine transport defect |
OMIM:238710 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Tricarboxylic Acid Cycle, Defect Of |
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Decreased activity of the pyruvate dehydrogenase complex |
OMIM:275370 |
Combined Oxidative Phosphorylation Deficiency 46 |
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Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I |
OMIM:618952 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology |
OMIM:618378 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Death in infancy, Abnormal mitochondrial morphology |
OMIM:618528 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Hsd10 Mitochondrial Disease |
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Abnormal mitochondrial morphology |
OMIM:300438 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology |
ORPHA:99013 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Decreased activity of mitochondrial complex IV, Mitochondrial hypertrophy, Decreased activity of ... |
OMIM:500013 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Cowden syndrome 3 |
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Abnormality of mitochondrial metabolism |
OMIM:615106 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Abnormality of the mitochondrion |
ORPHA:91130 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number |
ORPHA:352447 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of the mitochondrion |
ORPHA:330050 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Myopathy With Lactic Acidosis, Hereditary |
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Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... |
OMIM:255125 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
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Intrauterine growth retardation, Abnormality of mitochondrial metabolism |
OMIM:615330 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number |
ORPHA:263297 |
Reticular Dysgenesis |
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Abnormality of mitochondrial metabolism |
ORPHA:33355 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormality of mitochondrial metabolism |
ORPHA:1192 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Decreased activity of mitochondrial complex IV, Abnormal mitochondrial shape, Decreased activity ... |
ORPHA:17 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Intrauterine growth retardation, Abnormality of the mitochondrion, Death in childhood |
OMIM:214110 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the mitochondrion |
ORPHA:298 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Abnormality of mitochondrial metabolism |
ORPHA:88639 |
Sialuria |
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Abnormality of the mitochondrion |
ORPHA:3166 |
Manganese Poisoning |
|
Abnormality of mitochondrial metabolism |
ORPHA:306682 |
Hsd10 Disease, Infantile Type |
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Abnormality of mitochondrial metabolism |
ORPHA:391428 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Intrauterine growth retardation, Abnormality of mitochondrial metabolism, Umbilical hernia |
OMIM:614052 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of mitochondrial metabolism |
OMIM:203700 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
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Decreased activity of mitochondrial respiratory chain |
OMIM:612073 |
Friedreich Ataxia 2 |
|
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Abnormality of the mitochondrion |
ORPHA:254892 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Abnormality of mitochondrial metabolism |
ORPHA:314404 |
Friedreich Ataxia And Congenital Glaucoma |
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Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity |
OMIM:229310 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria |
ORPHA:1933 |