Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Friedreich Ataxia |
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Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity |
OMIM:229300 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Elevated hepatic transaminase, Decreased activity of mitochondrial ATP synthase complex, Small fo... |
OMIM:610498 |
Fumarase Deficiency |
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Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failu... |
OMIM:606812 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increase... |
OMIM:232700 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Hsd10 Mitochondrial Disease |
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Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number, Slender build |
ORPHA:352470 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
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Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
Methylmalonic Aciduria, Cblb Type |
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Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly |
OMIM:251110 |
Diarrhea 13 |
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Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Death in infancy, Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased activit... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Death in infancy, Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased activit... |
OMIM:618839 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
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Death in infancy, Decreased activity of mitochondrial complex IV, Decreased activity of mitochond... |
OMIM:617184 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Methylmalonic Aciduria, Cbla Type |
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Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly |
OMIM:251100 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, De... |
OMIM:245400 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism, Hepatomegaly, Failure to thrive, Hepatic failure |
ORPHA:255210 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methionine synthase activity, Failure to thrive, Decreased methylmalonyl-CoA mutase act... |
OMIM:277400 |
Hypertriglyceridemia, Transient Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Elevated gamma-glutamyltransferase... |
OMIM:614480 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology |
ORPHA:99013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Failure to thrive in infancy, Decr... |
OMIM:619064 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... |
OMIM:615578 |
Friedreich Ataxia 2 |
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Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Gilbert Syndrome |
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Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
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Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... |
OMIM:611126 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Failure to thrive, Abnormality of the mitochondrion |
ORPHA:91130 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Fail... |
ORPHA:2089 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:619484 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Failure to thrive |
OMIM:619518 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... |
ORPHA:17 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hypoglycemic seiz... |
ORPHA:71212 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ja... |
OMIM:617049 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Decreased activity of mitocho... |
OMIM:615453 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Barth Syndrome |
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Failure to thrive, Abnormal mitochondrial morphology |
OMIM:302060 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
Liver Failure, Infantile, Transient |
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Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Microvesicu... |
OMIM:613070 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Elevated hepatic transaminase, Giant cell hepatitis, Failure to thrive, Hepatomegaly, Elevated ci... |
OMIM:214950 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Decreased circulat... |
ORPHA:99901 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number |
ORPHA:352447 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Giant cell hepatitis, Failure to thrive, Hepatomegaly, Intrahepati... |
OMIM:607765 |
Blue Diaper Syndrome |
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Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli... |
ORPHA:94086 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Mitochondrial hypertrophy |
OMIM:602541 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Bile duct proliferation, Fasting hypog... |
OMIM:613027 |
Infantile Liver Failure Syndrome 2 |
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Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure |
OMIM:616483 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number, Diabetes mellitus |
ORPHA:263297 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Jaun... |
ORPHA:30391 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... |
OMIM:617156 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... |
OMIM:616026 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Biliary Atresia, Extrahepatic |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Immunodeficiency 68 |
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T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Myhre Syndrome |
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Vertebral fusion, Atrial septal defect, Ventricular septal defect, Short neck, Pericardial effusi... |
OMIM:139210 |
Macrophage Activation Syndrome |
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Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abn... |
ORPHA:666 |