Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia |
OMIM:615026 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia |
OMIM:610006 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Bradykinesia, Abnormal circula... |
ORPHA:399 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Gait disturbance |
ORPHA:29822 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95717 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Meningococcal Meningitis |
|
Fever, Elevated circulating C-reactive protein concentration, Hypothermia, Anorexia, Lethargy |
ORPHA:33475 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Kleine-Levin Syndrome |
|
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... |
ORPHA:33543 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:71529 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... |
ORPHA:276556 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... |
ORPHA:276575 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... |
ORPHA:324575 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:95716 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease... |
ORPHA:159 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia |
OMIM:614654 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Polyphagia |
OMIM:617885 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
ORPHA:94124 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hyperglycinemia, Hypothermia, Hypertaurinemia |
OMIM:245400 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
OMIM:607250 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Hypothermia, Attention deficit hyperactivity disorder, Lethargy, Abnormal c... |
ORPHA:90674 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait |
OMIM:618493 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Tongue thrusting, Choreoathetosis, Athetosis, Lethargy, Temperature ins... |
OMIM:608643 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypothermia, Increased circulating free fatty... |
ORPHA:26793 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Ataxia, Anorexia, Hypothermia, Hyperammonemia, Hyperuricemia, Lethargy |
ORPHA:20 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level, Hypothermia |
ORPHA:226316 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Schaaf-Yang Syndrome |
|
Inability to walk, Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Dysphagia, Tem... |
ORPHA:99027 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Hypothermia, Hyperkalemia, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia |
ORPHA:71526 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia |
ORPHA:90673 |
Timothy Syndrome |
|
Hypocalcemia, Hypothermia |
OMIM:601005 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Attention deficit hyperactivity disorder, Increased C-pepti... |
OMIM:620211 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia |
OMIM:275000 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... |
OMIM:208920 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Ataxia, Hypothermia, Low plasma citrulline, Gait ataxia, Dysphagia, Hyperalaninemia |
ORPHA:255210 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Hypomagnese... |
ORPHA:94093 |
Congenital Enterovirus Infection |
|
Fever, Hypoalbuminemia, Hypothermia, Hyperammonemia |
ORPHA:292 |
Man1B1-Cdg |
|
Broad-based gait, Polyphagia |
ORPHA:397941 |
Alexander Disease |
|
Ataxia, Hypothermia, Self-injurious behavior, Gait disturbance, Dysphagia |
ORPHA:58 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Insulinoma |
|
Lethargy, Polyphagia |
ORPHA:97279 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting... |
ORPHA:72 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer... |
OMIM:277460 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Fever, Cyanosis, Hypothermia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Se... |
ORPHA:293987 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Onychotillomania, Hypercholester... |
OMIM:182290 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypocalcemia |
OMIM:606407 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypothermia, Aggressive behavior, Unsteady gait, Choreoathetosis |
ORPHA:17 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypothermia, Hyperammonemia, Hyperhomocystinem... |
ORPHA:79282 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypothermia, Hyperbilirubi... |
OMIM:251880 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Hypothermia |
OMIM:618775 |
Tbck-Related Intellectual Disability Syndrome |
|
Inability to walk, Abnormal circulating lipid concentration, Hypothermia |
ORPHA:488632 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia, Hypothermia |
OMIM:618329 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:66628 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ... |
OMIM:156200 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:179494 |
Marburg Hemorrhagic Fever |
|
Fever, Elevated circulating creatine kinase concentration, Anorexia, Aggressive behavior, Hyperam... |
ORPHA:99826 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Lethargy, Temperature ... |
ORPHA:398069 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen |
ORPHA:230 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia |
OMIM:218700 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Polyphagia, Abnormal blood ion concentration, Steatorrhea |
ORPHA:95427 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen |
OMIM:223360 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Difficulty walking, Dys... |
ORPHA:642 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation |
ORPHA:251028 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Skin-picking, Polyphagia, Abnormal temper tantrums |
ORPHA:398079 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Self-injurious behavior, Gait disturbance, Attention deficit hyperactivity ... |
ORPHA:819 |
Cog4-Cdg |
|
Hypercholesterolemia, Ataxia |
ORPHA:263501 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid co... |
ORPHA:567548 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Abnormal circulating thyroglobulin level, Hypothermia |
ORPHA:226307 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Ataxia, Dysphagia |
OMIM:249310 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... |
ORPHA:96121 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:98793 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177901 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Decreased serum iron, Hypothermia, Inability to walk, Dysphagia, Stereotypical ... |
ORPHA:438213 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Temperature instability, Polyphagia, Attention deficit hyperactivity dis... |
OMIM:176270 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia |
ORPHA:98754 |
Occipital Horn Syndrome |
|
Hypothermia, Dysphagia |
ORPHA:198 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
X-Linked Acrogigantism |
|
Polyphagia, Ataxia |
ORPHA:300373 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hy... |
ORPHA:79443 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Menkes Disease |
|
Hypothermia |
ORPHA:565 |
Adnp Syndrome |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... |
ORPHA:404448 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79444 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Addictive alcohol use |
ORPHA:90065 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Prader-Willi Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... |
OMIM:615873 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Sarcoidosis |
|
Fever, Hypercalcemia, Hypothermia |
ORPHA:797 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Decreased resting energy expenditure, Inability to walk, Decreased LDL cholesterol concentration,... |
ORPHA:404454 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Craniopharyngioma |
|
Polyphagia |
ORPHA:54595 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
1P36 Deletion Syndrome |
|
Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:1606 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Polyphagia |
OMIM:608594 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Sitosterolemia 1 |
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Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder |
OMIM:607872 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Hypercholesterolemia |
OMIM:606721 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypophosphatemia, Self-injurious behavior, Hypokalemia, Hyperaldoste... |
ORPHA:534 |
Steinert Myotonic Dystrophy |
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Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Falls, Gait disturbance, Hyper... |
ORPHA:273 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... |
OMIM:309000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Immunodeficiency 47 |
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Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Alström Syndrome |
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Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Ataxia |
ORPHA:64 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |