Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Hepatomegaly, Death in infancy, Cholestasis, Hepatic failure, Abnormal mitochondrial morphology, ... |
OMIM:618528 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive |
OMIM:618378 |
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 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Microvesicular hepatic steatosis, Death in infancy, Hypoglycemia, Intrauterine growth retardation... |
OMIM:617156 |
Friedreich Ataxia |
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Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity, Diabetes mellitus |
OMIM:229300 |
Combined Oxidative Phosphorylation Deficiency 46 |
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Decreased liver function, Decreased activity of mitochondrial complex IV, Decreased activity of m... |
OMIM:618952 |
Glycogen Storage Disease Vi |
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Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increased hepatic glycogen content, Ele... |
OMIM:232700 |
Hsd10 Mitochondrial Disease |
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Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
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 |
Barth Syndrome |
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Failure to thrive, Abnormal mitochondrial morphology |
OMIM:302060 |
Methylmalonic Aciduria, Cblb Type |
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Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Failure to thrive |
OMIM:251110 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Death in infancy, Hypoglycemia, Intrauterine growth retardation, Decreased activity of mitochondr... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Death in infancy, Hypoglycemia, Intrauterine growth retardation, Decreased activity of mitochondr... |
OMIM:618839 |
Methylmalonic Aciduria, Cbla Type |
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Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Failure to thrive |
OMIM:251100 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia |
OMIM:306000 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity |
OMIM:277410 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Death in infancy, Hypoglycemia, Intrauterine growth retardation, Decreased activity of mitochondr... |
OMIM:245400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Failure to thrive, Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Decreased methionine synthase act... |
OMIM:277400 |
Liver Failure, Infantile, Transient |
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Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... |
OMIM:613070 |
Friedreich Ataxia 2 |
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Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Failure to thrive in infancy, Death in infancy, Decreased activity of mitochondrial... |
OMIM:619064 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Failure to thrive, Abnormality of the mitochondrion |
ORPHA:91130 |
Carnitine Deficiency, Systemic Primary |
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Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Recurrent hypo... |
OMIM:212140 |
Friedreich Ataxia And Congenital Glaucoma |
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Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:229310 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology |
ORPHA:275872 |
Tricarboxylic Acid Cycle, Defect Of |
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Decreased activity of the pyruvate dehydrogenase complex |
OMIM:275370 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology |
ORPHA:99013 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
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Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activit... |
OMIM:302900 |
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 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... |
OMIM:618549 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Hepatomegaly, Failure to thrive, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic ... |
ORPHA:79301 |
Pyruvate Dehydrogenase E3 Deficiency |
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Hepatomegaly, Hypoglycemia, Failure to thrive, Hepatic failure, Elevated hepatic transaminase, De... |
ORPHA:2394 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... |
OMIM:214950 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Cirrhosis, Elevated circulating alkal... |
OMIM:613812 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletion of mitochondria... |
OMIM:251880 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminase, Postprandial ... |
ORPHA:2089 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Intrauterine growth retardation, Decreased 3-hydroxyacyl-CoA dehydrogen... |
ORPHA:71212 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Failure to thrive, Mitochondrial hypertrophy |
OMIM:619518 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Intrahepatic cholestasis, Failure to thrive, Elevated gamma-glutamyltransferase level, Elevated c... |
OMIM:619484 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
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Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm... |
ORPHA:228305 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Decreased activity of mitochondrial com... |
ORPHA:17 |
Low Phospholipid-Associated Cholelithiasis |
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Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Cachexia, Weight loss, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase... |
ORPHA:298 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... |
OMIM:201450 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Failure to thrive, Elevated circulating alkaline phosphatase concentration, Hepatic... |
OMIM:235555 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Death in infancy, Hypoglycemia, Failure to thrive, Cirrhosis, Elevated circulating aspartate amin... |
OMIM:617049 |
Benign Recurrent Intrahepatic Cholestasis |
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Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Cholestatic liver disease,... |
ORPHA:65682 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number |
ORPHA:352447 |
Reticular Dysgenesis |
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Failure to thrive, Weight loss, Abnormality of mitochondrial metabolism |
ORPHA:33355 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... |
OMIM:147480 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of the mitochondrion |
ORPHA:330050 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Failure to thrive, Hepatic steatosis, Acute hepatic failure, Increased circulating lactate dehydr... |
ORPHA:99901 |
Blue Diaper Syndrome |
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Elevated hepatic transaminase, Increased proinsulin:insulin ratio, Recurrent hypoglycemia, Increa... |
ORPHA:94086 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Intrahepatic biliary dysgenesis... |
OMIM:214110 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Death in infancy, Hypoglycemia, Intrauterine growth retardation, Small for gestational age, Decre... |
OMIM:619055 |
Cowden syndrome 3 |
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Abnormality of mitochondrial metabolism |
OMIM:615106 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Cirrhosis, Hepatic failure... |
OMIM:607765 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, ... |
OMIM:616278 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Infantile Liver Failure Syndrome 2 |
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Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice |
OMIM:616483 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Abnormality of mitochondrial metabolism, Type I diabetes mellitus |
ORPHA:1192 |
Sialuria |
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Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Abnormality of t... |
ORPHA:3166 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
Isolated Biliary Atresia |
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Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... |
OMIM:617394 |
Gallbladder Disease 1 |
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Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... |
OMIM:600803 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
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Intrauterine growth retardation, Abnormality of mitochondrial metabolism |
OMIM:615330 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... |
OMIM:203700 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Biliary Atresia, Extrahepatic |
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Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... |
OMIM:602347 |
Hsd10 Disease, Infantile Type |
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Hypoglycemia, Abnormality of mitochondrial metabolism, Abnormal enzyme/coenzyme activity |
ORPHA:391428 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Elevated gamma-glutamy... |
ORPHA:567983 |
Immunodeficiency 68 |
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B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number |
ORPHA:263297 |
Budd-Chiari Syndrome |
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Hepatomegaly, Weight loss, Cirrhosis, Acute hepatic failure, Cholecystitis, Elevated hepatic tran... |
ORPHA:131 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Failure to thrive, Abnormality of mitochondrial metabolism |
ORPHA:88639 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Failure to thrive, Glucose intolerance, Abnormality of the liver, Diabetes mellitus, Elevated hep... |
ORPHA:254892 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Intrauterine growth retardation, Small for gestational age, Umbilical hernia, Failure to thrive, ... |
OMIM:614052 |
Macrophage Activation Syndrome |
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Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
Myhre Syndrome |
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Fine hair, Vertebral fusion, Platyspondyly, Enlarged vertebral pedicles, Thick eyebrow, Cryptorch... |
OMIM:139210 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... |
ORPHA:79124 |
Manganese Poisoning |
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Abnormality of mitochondrial metabolism |
ORPHA:306682 |
Hemophagocytic Syndrome Associated With An Infection |
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Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... |
ORPHA:158048 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
Osteogenesis Imperfecta |
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Biconcave vertebral bodies, Abnormal form of the vertebral bodies, Kyphosis, Enlarged vertebral p... |
ORPHA:666 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Abnormality of mitochondrial metabolism |
ORPHA:314404 |