Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis |
OMIM:603813 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at... |
OMIM:618666 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... |
OMIM:144300 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:604091 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia, Decreased lecithin cho... |
OMIM:245900 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Premature coronary artery atherosclerosis |
OMIM:608320 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis |
OMIM:145750 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Jaundice, Arteriosclerosis, Hypercholesterolemia, Hepatic failure |
ORPHA:75234 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:618463 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Foam cells with lamellar inclusion... |
OMIM:607616 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sea-Blue Histiocyte Disease |
|
Foam cells, Elevated circulating alanine aminotransferase concentration, Elevated circulating asp... |
OMIM:269600 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... |
OMIM:619868 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... |
OMIM:144010 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Increased LDL cholesterol concentra... |
ORPHA:209902 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c... |
OMIM:278000 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Xanthelasma, ... |
ORPHA:425 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Type ... |
ORPHA:412 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Premature coronary artery atherosc... |
OMIM:610947 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Hepatic failure, Atherosclerosis |
ORPHA:2724 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali... |
OMIM:616828 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Atherosclerosis |
ORPHA:79292 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronary artery atherosc... |
ORPHA:140905 |
Gm1-Gangliosidosis, Type Iii |
|
Decreased beta-galactosidase activity, Foam cells |
OMIM:230650 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... |
ORPHA:494424 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Analbuminemia |
|
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... |
OMIM:616000 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration, Coronary artery atherosclerosis |
OMIM:616833 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:619662 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis |
OMIM:143890 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Atherosclerosis |
ORPHA:1979 |
Niemann-Pick Disease, Type C1 |
|
Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Low cholesterol esterific... |
OMIM:257220 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Prominent veins on trunk, Hyperuricemia, Coronary artery atherosclerosis, A... |
ORPHA:79083 |
Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Hypertriglyceridemia, Coronary artery atherosclerosis |
OMIM:608600 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Peripher... |
ORPHA:391665 |
Niemann-Pick Disease, Type A |
|
Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotransferase concen... |
OMIM:257200 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Coronary artery atherosclerosis, Atherosclerosis |
ORPHA:2348 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Foam cells, Elevated carcinoembryonic antigen level |
ORPHA:264675 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Carotid a... |
OMIM:210250 |
Acatalasemia |
|
Arteriosclerosis, Reduced catalase level |
ORPHA:926 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Atherosclerosis |
OMIM:610842 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode |
ORPHA:199354 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Chronic active hepatitis,... |
OMIM:203800 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
Flynn-Aird Syndrome |
|
Atherosclerosis |
ORPHA:2047 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Stroke, Hypercholesterolemia, Coro... |
OMIM:615812 |
Panbronchiolitis, Diffuse |
|
Foam cells |
OMIM:604809 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Preco... |
ORPHA:280365 |
Niemann-Pick Disease, Type C2 |
|
CNS foam cells, Bone-marrow foam cells, Low cholesterol esterification rate, Jaundice, Prolonged ... |
OMIM:607625 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Hypercholesterolemia, Elevated circulating alkaline phosphatase co... |
ORPHA:263501 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Hyperlipidemia, Arteriosclerosis of small cerebral arteries, Stroke, I... |
ORPHA:1830 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem... |
OMIM:277700 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Precocious atherosclerosis |
ORPHA:230839 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Atherosclerosis, Abnormal blood ion concentration, Steatorrhea |
ORPHA:95427 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... |
OMIM:619802 |
Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
OMIM:176670 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... |
ORPHA:747 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hyper... |
OMIM:151660 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Precocious atherosclerosis, Hyperlipidemia, Jaundice, Increased circulating... |
ORPHA:444490 |
Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hypocholesterolemia, ... |
ORPHA:31150 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia, Abnormal circul... |
ORPHA:79237 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Atherosclerosis |
ORPHA:93598 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Coronary artery atherosclerosis |
ORPHA:79084 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Jaundice, Lactescent serum, Increased circulating chylomicron concentration, Hype... |
OMIM:238600 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Ischemic stroke, Coronary artery atherosclerosis, Moyamoya phenomenon |
ORPHA:280679 |
Werner Syndrome |
|
Pulmonary artery stenosis, Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:902 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Pseudoxanthoma Elasticum |
|
Vascular dilatation, Arterial stenosis, Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:758 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesio... |
ORPHA:363618 |
Gapo Syndrome |
|
Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:2067 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Hypercholesterolemia, Intrahepatic cholestasis, Elevated gamma-glu... |
ORPHA:69663 |
Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Coronary artery atherosclerosis, Hypocalcem... |
ORPHA:36913 |
Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta |
OMIM:208060 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... |
ORPHA:565612 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Stroke, Coronary artery atherosclerosis |
OMIM:264800 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Lathosterolosis |
|
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Intrahepatic cholestasi... |
OMIM:607330 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Prominent superficial veins, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Schimke Immunoosseous Dysplasia |
|
Arteriosclerosis, Stroke, Transient ischemic attack |
OMIM:242900 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Hypercholesterolemia, Ischemic stroke, Cerebral hemorrhage |
ORPHA:90065 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Peripheral arterial stenosis, Hyperproteinemia, Increased circulating renin... |
ORPHA:90041 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Premature coronary artery atherosclerosis, Stroke-like episode, Right aortic... |
OMIM:300845 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:264580 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Atherosclerosis |
OMIM:614008 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Coronary artery atherosclerosis |
ORPHA:439232 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Retinal arteriolar constriction, Hyperuricemia, Vascular calcifica... |
ORPHA:191 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
Alkaptonuria |
|
Coronary artery calcification, Atherosclerosis |
ORPHA:56 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Estrogen Resistance Syndrome |
|
Elevated tissue non-specific alkaline phosphatase, Coronary artery atherosclerosis |
ORPHA:785 |
Cerebrotendinous Xanthomatosis |
|
Abnormal circulating enzyme concentration or activity, Premature coronary artery atherosclerosis,... |
ORPHA:909 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Coronary artery atherosclerosis |
ORPHA:435638 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Decreased circulating copper concentration, Elevated circulating a... |
OMIM:300972 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Elevated hepatic transaminase, Hypertri... |
ORPHA:470 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Tetralogy of Fallot, Coarctation of aorta, S... |
OMIM:118450 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis |
ORPHA:220295 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Low cholesterol esterification rate, Jaundice, Foam cells, Hepatic failure |
ORPHA:646 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia |
OMIM:619471 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prol... |
ORPHA:90674 |
Hutchinson-Gilford Progeria Syndrome |
|
Transient ischemic attack, Intracranial hemorrhage, Stroke, Carotid artery occlusion, Atheroscler... |
ORPHA:740 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Abnormal B-type natriu... |
ORPHA:66529 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Hypertriglyceridemia, Abnormal cerebral vascular morphology, Periphe... |
ORPHA:79474 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hyperlipidemia, Xant... |
ORPHA:79259 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Subdural hemorrhage, Aortic root aneurysm, Stroke, Vascular calcif... |
ORPHA:90324 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Conjugated hy... |
OMIM:619534 |
Lowe Oculocerebrorenal Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary arteriovenous malformation |
OMIM:606721 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Hypercholesterolemia |
ORPHA:273 |
Amyotrophic Lateral Sclerosis |
|
|
ORPHA:803 |