Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... |
OMIM:620085 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:604091 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:136120 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:71529 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Polyphagia |
OMIM:617885 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia |
OMIM:222100 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:610947 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... |
OMIM:615703 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Aggressive behavior |
ORPHA:329249 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
OMIM:616516 |
Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy |
OMIM:172700 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:607616 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Frontotemporal Dementia |
|
Inappropriate laughter, Disinhibition, Polyphagia |
OMIM:600274 |
Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Self-mutilation, Hyperuricemia |
OMIM:308950 |
Huntington Disease |
|
Agitation, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol concentration, Compulsive ... |
ORPHA:399 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Aggressive behavior |
OMIM:616521 |
Kleine-Levin Syndrome |
|
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... |
ORPHA:33543 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:618620 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Agitation, Polyphagia, Decreased circulating free fatty acid level |
ORPHA:276556 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... |
ORPHA:247585 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia |
OMIM:612526 |
Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... |
OMIM:615558 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Obesity Due To Sim1 Deficiency |
|
Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:603552 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Overfriendliness, Aggressive behavior |
OMIM:618010 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia |
OMIM:603471 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Agitation, Polyphagia, Decreased circulating free fatty acid level |
ORPHA:276575 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Motor stereotypy, Onychotilloman... |
OMIM:182290 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Increased C-peptide level, Agitation, Polyphagia, Decreased circulating free fatty acid level |
ORPHA:324575 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
14Q11.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Aggressive behavior |
ORPHA:261229 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia |
OMIM:609734 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:613101 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:231111 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Agitation, Polyphagia |
ORPHA:276580 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... |
ORPHA:650 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia |
OMIM:613845 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter |
ORPHA:228402 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia, Polyphagia |
ORPHA:251004 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:66628 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:179494 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Tangier Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... |
OMIM:205400 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia |
ORPHA:171829 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:620603 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Attention deficit hyperactivity disorder, Polyphagia, Overfriendliness |
OMIM:620439 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia |
ORPHA:71526 |
Hyperlipoproteinemia, Type Id |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... |
OMIM:615947 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... |
OMIM:223360 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Graves Disease |
|
Hyperactivity, Polyphagia |
OMIM:275000 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality |
OMIM:607485 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Polyphagia |
OMIM:606407 |
Joubert Syndrome 10 |
|
Polyphagia, Frequent temper tantrums |
OMIM:300804 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Schaaf-Yang Syndrome |
|
Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ... |
ORPHA:819 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Secondary Short Bowel Syndrome |
|
Abnormal blood ion concentration, Low plasma citrulline, Steatorrhea, Polyphagia |
ORPHA:95427 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
Trisomy 18P |
|
Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:1715 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased LDL cholest... |
OMIM:278000 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:619313 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:98855 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... |
ORPHA:158061 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... |
ORPHA:49041 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:261 |
Angelman Syndrome |
|
Tongue thrusting, Hyperactivity, Recurrent hand flapping, Polyphagia, Inappropriate laughter, Dys... |
ORPHA:72 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... |
OMIM:603553 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... |
OMIM:615980 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... |
ORPHA:470 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Self-injurious behavior, Bruxism, Ag... |
OMIM:156200 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Dysphagia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration |
ORPHA:540 |
Insulinoma |
|
Polyphagia |
ORPHA:97279 |
Pediatric-Onset Graves Disease |
|
Polydipsia, Polyphagia, Hyperactivity |
ORPHA:525731 |
Microtriplication 11Q24.1 |
|
Bruxism, Hyperlipidemia |
ORPHA:289522 |
Prader-Willi Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Polyphagia, Attention deficit hype... |
OMIM:176270 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:619802 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Self-mutilation, Polyphagia, Restlessness, Aggressive behavior |
ORPHA:251028 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Methanol Poisoning |
|
Addictive alcohol use, Hyperlipidemia |
ORPHA:31825 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Obsessive-compulsive trait, Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious be... |
ORPHA:98793 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia |
ORPHA:369 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... |
ORPHA:90041 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Obsessive-compulsive trait, Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious be... |
ORPHA:177904 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Obsessive-compulsive trait, Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious be... |
ORPHA:177901 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration |
ORPHA:79086 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Polyphagia, Compulsive behaviors, Impulsivity, Skin-picking |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Abnormal temper tantrums, Polyphagia, Skin-picking, Self-injurious behavior, Bulimia |
ORPHA:98754 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Sim1-Related Prader-Willi-Like Syndrome |
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Abnormal temper tantrums, Skin-picking, Polyphagia |
ORPHA:398079 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
Seckel Syndrome 10 |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hypertriglyceridemia |
OMIM:617591 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration |
ORPHA:280365 |
Pseudohypoparathyroidism Type 1C |
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Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79444 |
Gangliocytoma |
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Polyphagia |
ORPHA:251937 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decrea... |
ORPHA:447 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Polyphagia, Collectionism, Motor stereotypy, Self-injurious behavior, Aggressive b... |
ORPHA:96121 |
Adnp Syndrome |
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Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Compulsive behaviors, Attention ... |
ORPHA:404448 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Polydipsia, Hyperlipidemia, Polyphagia, Compulsive behaviors, Hyponatremia, Self-injurious behavi... |
ORPHA:293987 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Alstrom Syndrome |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hyperuric... |
OMIM:203800 |
Lysosomal Acid Lipase Deficiency |
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Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia |
ORPHA:79259 |
Hemophagocytic Syndrome Associated With An Infection |
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Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia |
ORPHA:158048 |
Neutral Lipid Storage Disease With Myopathy |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
H Syndrome |
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Hypertriglyceridemia |
ORPHA:168569 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Griscelli Syndrome Type 2 |
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Hyperlipidemia |
ORPHA:79477 |
Weaver Syndrome |
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Polyphagia |
OMIM:277590 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hypertriglyceridemia, Elevated hemoglobin A1c, Polyphagia |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hypertriglyceridemia, Polyphagia |
OMIM:608594 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79443 |
Cholestasis-Lymphedema Syndrome |
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Hyperlipidemia |
ORPHA:1414 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Hypertriglyceridemia |
ORPHA:536532 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... |
ORPHA:77293 |
Chédiak-Higashi Syndrome |
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Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia |
ORPHA:167 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Polyphagia, Compulsive behaviors, Dysphagia, Motor stereotypy, Attention deficit h... |
OMIM:615873 |
19P13.12 Microdeletion Syndrome |
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Hyperactivity, Self-injurious behavior, Hyperlipidemia |
ORPHA:254346 |
Prader-Willi Syndrome |
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Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:739 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Motor stereotypy, Attenti... |
OMIM:620330 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Hypertriglyceridemia |
OMIM:619418 |
Neutral Lipid Storage Myopathy |
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Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
X-Linked Acrogigantism |
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Polyphagia |
ORPHA:300373 |
Immunodeficiency 87 And Autoimmunity |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia |
OMIM:619573 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... |
ORPHA:228308 |
Aapoaiv Amyloidosis |
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Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Hypercholesterolemia, Dysphagia |
OMIM:606721 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... |
ORPHA:157 |
Craniopharyngioma |
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Polyphagia |
ORPHA:54595 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... |
OMIM:256040 |
Glycogen Storage Disease Ia |
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Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Familial Multiple Lipomatosis |
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Hyperlipidemia |
ORPHA:199276 |
1P36 Deletion Syndrome |
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Self-injurious behavior, Polyphagia, Dysphagia, Motor stereotypy |
ORPHA:1606 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper... |
ORPHA:189427 |
Goodpasture Syndrome |
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Increased blood urea nitrogen |
OMIM:233450 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Dysphagia |
OMIM:264090 |
Schimke Immuno-Osseous Dysplasia |
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Hyperlipidemia |
ORPHA:1830 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Polyphagia, Oppositional defiant disorder, Dysphagia, Self-mutilation, Aggressive behavior |
OMIM:607872 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperlipidemia |
OMIM:608612 |
Atypical Werner Syndrome |
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Hypertriglyceridemia |
ORPHA:79474 |
Glycogen Storage Disease Ib |
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Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Bardet-Biedl Syndrome |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration |
ORPHA:110 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia |
ORPHA:3455 |
Glycogen Storage Disease Ic |
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Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperlipidemia |
ORPHA:90153 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Fabry Disease |
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Anorexia, Hyperlipidemia, Abnormal circulating lipid concentration |
ORPHA:324 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Aromatase Deficiency |
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Hyperlipidemia |
ORPHA:91 |
Woodhouse-Sakati Syndrome |
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Hyperlipidemia |
OMIM:241080 |
Alström Syndrome |
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Hypertriglyceridemia, Hyperlipidemia, Polyphagia |
ORPHA:64 |
Woodhouse-Sakati Syndrome |
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Hyperlipidemia |
ORPHA:3464 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |