Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Iron Overload In Africa |
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Elevated transferrin saturation |
OMIM:601195 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia |
OMIM:301033 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Morbid Obesity And Spermatogenic Failure |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number, Short stature |
ORPHA:457050 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron |
OMIM:603358 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology |
OMIM:618378 |
Analbuminemia |
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Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Neonatal Hemochromatosis |
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Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Hemochromatosis Type 2 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Abnormal mitochondrial morphology |
OMIM:618528 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Hsd10 Mitochondrial Disease |
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Abnormal mitochondrial morphology |
OMIM:300438 |
Hemochromatosis, Type 2B |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis |
ORPHA:75563 |
Growth Hormone Insensitivity Syndrome |
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Hypercholesterolemia |
ORPHA:181393 |
Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology |
ORPHA:99013 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology |
ORPHA:275872 |
Hemochromatosis, Type 3 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:604250 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... |
ORPHA:766 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
Hyperlipoproteinemia, Type I |
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Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:616278 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Laron Syndrome |
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Hypercholesterolemia |
ORPHA:633 |
Congenital Analbuminemia |
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Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Morgagni-Stewart-Morel Syndrome |
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Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Aceruloplasminemia |
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Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Nephrotic Syndrome, Type 11 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Ataxia With Vitamin E Deficiency |
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Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Galactokinase Deficiency |
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Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia |
OMIM:615812 |
Barth Syndrome |
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Growth delay, Abnormal mitochondrial morphology |
OMIM:302060 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number |
ORPHA:352447 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Short stature |
OMIM:619518 |
Cog4-Cdg |
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Hypercholesterolemia |
ORPHA:263501 |
Lysosomal Acid Lipase Deficiency |
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Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Dysbetalipoproteinemia |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Congenital Generalized Lipodystrophy |
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Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Hypercholesterolemia |
ORPHA:96184 |
Beta-Thalassemia |
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Abnormality of iron homeostasis |
ORPHA:848 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Hypercholesterolemia |
ORPHA:401923 |
Sitosterolemia 1 |
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Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:210250 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... |
ORPHA:300298 |
Mandibuloacral Dysplasia |
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Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron |
ORPHA:98870 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Growth delay, Abnormal mitochondrial shape |
ORPHA:485421 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
Megalocornea-Mental Retardation Syndrome |
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Hypercholesterolemia |
OMIM:249310 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia |
ORPHA:2479 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia |
ORPHA:90065 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number |
ORPHA:263297 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:370 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... |
ORPHA:17 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Hyperammon... |
ORPHA:470 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:264580 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Lysosomal Acid Lipase Deficiency |
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Steatorrhea, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hyperkalemia |
ORPHA:275761 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Beta-Thalassemia Intermedia |
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Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Gaisböck Syndrome |
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Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Decreased circulating ferritin concentration, Abnormal transferrin saturation, Hyperglycinemia, I... |
ORPHA:309854 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Trichohepatoenteric Syndrome 1 |
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Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia |
ORPHA:79259 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism |
ORPHA:534 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
Lowe Oculocerebrorenal Syndrome |
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Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... |
OMIM:309000 |
Steinert Myotonic Dystrophy |
|
Fatigable weakness of bulbar muscles, Hypercholesterolemia |
ORPHA:273 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Syndromic Diarrhea |
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Abnormality of iron homeostasis |
ORPHA:84064 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... |
OMIM:619534 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation |
ORPHA:79243 |
Codas Syndrome |
|
Short stature |
ORPHA:1458 |
Codas Syndrome |
|
Short stature |
OMIM:600373 |
Congenital Diaphragmatic Hernia |
|
|
ORPHA:2140 |