| 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 |
|
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... |
OMIM:620211 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Attention deficit hyperactivity disorder, Hypercholesterolemia |
OMIM:301033 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hirsutism, Hypercholesterolem... |
OMIM:612526 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... |
OMIM:616828 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Morgagni-Stewart-Morel Syndrome |
|
Depression, Hyperuricemia, Hirsutism, Hypercholesterolemia, Diabetes mellitus |
ORPHA:77296 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia |
ORPHA:75234 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... |
ORPHA:324575 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia, Thick hair |
ORPHA:263501 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... |
ORPHA:35878 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperl... |
ORPHA:247585 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
| Smith-Magenis Syndrome |
|
Head-banging, Onychotillomania, Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertrigly... |
OMIM:182290 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... |
OMIM:210250 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Hypertrichosis, Hyperinsulinemia, Low anterior hairline, Low posterior hairli... |
ORPHA:528 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Alopecia, Increased circulating free fatty acid level, Insulin-resistant diab... |
ORPHA:2457 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... |
ORPHA:64753 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... |
OMIM:278000 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Hypercholesterolemia, Type II diabetes mellitus, Thick hair |
ORPHA:401923 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Hyperlipidemia, Irritability, Ketotic hypoglycemia |
ORPHA:2089 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Temple Syndrome |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia |
OMIM:616222 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Ketotic... |
ORPHA:79240 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Addictive alcohol use, Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythroc... |
ORPHA:264580 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Hypercholesterolemia, Hypertri... |
ORPHA:819 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... |
ORPHA:100924 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia, Hypoglycemia |
OMIM:620454 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, H... |
OMIM:248370 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Liver abscess, Diabetes mellitus |
ORPHA:69663 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, O... |
ORPHA:470 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... |
OMIM:262190 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia |
OMIM:610644 |
| Neuhauser Syndrome |
|
Hypercholesterolemia, Dysphagia, Low anterior hairline |
OMIM:249310 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent... |
ORPHA:90674 |
| Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Hypercholesterolemia |
ORPHA:2479 |
| Prader-Willi Syndrome |
|
Self-injurious behavior, Decreased HDL cholesterol concentration, Hyperinsulinemia, Frontal upswe... |
OMIM:176270 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Premature graying of hair, Absent eyelashes, Hypercholesterolemia, Absent e... |
ORPHA:363618 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Anemia, Hypercholesterolemia, Hypertrig... |
ORPHA:79259 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... |
OMIM:300972 |
| Methylmalonic Aciduria, Cblb Type |
|
Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemi... |
OMIM:251110 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp... |
ORPHA:275761 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hirsutism, Hypokalemia, ... |
OMIM:219090 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... |
ORPHA:186 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Hypercholesterolemia, Impaired... |
OMIM:606721 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Depression, Fine hair, Hyperaldosteronism, Hyponatremia, Hypokalemia, At... |
ORPHA:534 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Alopecia, Depression, Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-... |
ORPHA:273 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Ag... |
OMIM:309000 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Highly arched eyebrow, Trichiasis, Abnormal fear-induced behavior, Emoti... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Highly arched eyebrow, Trichiasis, Abnormal fear-induced behavior, Emoti... |
ORPHA:353277 |
