| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Azoospermia, Ob... |
OMIM:615703 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue, Lipodystrophy, Hype... |
OMIM:612526 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
ORPHA:94124 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... |
OMIM:619868 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Temple Syndrome |
|
Precocious puberty, Decreased testicular size, Obesity, Cryptorchidism, Hypercholesterolemia, Tru... |
OMIM:616222 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... |
ORPHA:528 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... |
ORPHA:2457 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... |
OMIM:277460 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Labial pseudohypertrop... |
OMIM:151660 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... |
OMIM:208920 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co... |
OMIM:616267 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoporosis, Hyperostosis frontalis interna |
ORPHA:77296 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Hypercholesterolemia |
ORPHA:254531 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... |
OMIM:610644 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Obesity, Cryptorchidism, Hypercholesterolemia, Truncal obesity, Small for ges... |
ORPHA:96184 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... |
ORPHA:64753 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypergalactosemia, Hypercholesterolemia, Increased level of galactitol in plas... |
ORPHA:79237 |
| Laron Syndrome |
|
Hypoplasia of penis, Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hypercholesterolemia, Ataxia |
ORPHA:263501 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flex... |
OMIM:248370 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Smith-Magenis Syndrome |
|
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia, Cho... |
ORPHA:209902 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Increased circulating prolactin concentration, Go... |
ORPHA:90674 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Failure to thrive in infancy, Obesity, Gait disturbance, Hypercholesterolemia... |
ORPHA:819 |
| Prader-Willi Syndrome |
|
Precocious puberty, Small scrotum, Osteopenia, Class III obesity, Decreased HDL cholesterol conce... |
OMIM:176270 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... |
OMIM:615812 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... |
ORPHA:247585 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Cholesteryl Ester Storage Disease |
|
Failure to thrive, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholestero... |
OMIM:278000 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Increased body weight, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:79240 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Polycystic ovaries, Increased body weight, Elevated circulating creatine kinas... |
ORPHA:264580 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hyperbilirubinemia, Bil... |
OMIM:619662 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
ORPHA:2479 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest... |
ORPHA:412 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
| Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
OMIM:249310 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Bilateral cryptorchidism, Obesity, Hypercholesterolemia, Micropenis |
OMIM:619471 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Decreased HDL choles... |
ORPHA:470 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Failure to thrive, Decreased adipose tissue around neck, Gait ataxia, ... |
OMIM:606721 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Overweight, Hypercholesterolemia, Obesity |
ORPHA:69663 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypercholesterolemia |
ORPHA:90065 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Rickets, Failu... |
OMIM:309000 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Failure to thrive, Xanthelasma, Hyperlipidemia, Hyperuricemia, Polycystic ovaries, Hy... |
ORPHA:79259 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia, Knee flexion contracture |
OMIM:620454 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Gaisböck Syndrome |
|
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... |
ORPHA:90041 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Atypical scarring of skin, Failure to thrive, Umbilical hernia, Hyperaldoste... |
ORPHA:534 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypert... |
ORPHA:275761 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia |
ORPHA:363618 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Falls, Inability to walk, Decreased response to growth hormone... |
ORPHA:273 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive |
OMIM:300972 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele... |
OMIM:619534 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
