Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Short stature, Increased mitochondrial number |
ORPHA:457050 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... |
OMIM:615578 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Hemochromatosis Type 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum iron |
OMIM:613313 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... |
OMIM:500013 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic i... |
OMIM:615234 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Mitochondrial hypertrophy |
OMIM:619518 |
Barth Syndrome |
|
Growth delay, Abnormal mitochondrial morphology |
OMIM:302060 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number |
ORPHA:352447 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Growth delay, Abnormal mitochondrial shape |
ORPHA:485421 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:465508 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex III, Decreased activity... |
ORPHA:17 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... |
ORPHA:470 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra... |
ORPHA:309854 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Hyperlipidemia, Xanthelasma, Hypertriglyceridemia |
ORPHA:79259 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... |
OMIM:309000 |
Steinert Myotonic Dystrophy |
|
Fatigable weakness of bulbar muscles, Hypercholesterolemia |
ORPHA:273 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
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 |