Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... |
OMIM:612526 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance |
ORPHA:2398 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterol... |
ORPHA:181393 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance |
ORPHA:140941 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... |
OMIM:604367 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:324575 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder |
OMIM:617787 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1296 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... |
OMIM:615381 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Lipodystrophy, Adipose tissue lo... |
ORPHA:528 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Attention deficit hyperactivity disorder |
OMIM:204750 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Cortisone Reductase Deficiency 2 |
|
Premature pubarche, Insulin resistance |
OMIM:614662 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... |
ORPHA:71526 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Hypergon... |
ORPHA:79237 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:144600 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... |
ORPHA:90970 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... |
ORPHA:2348 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Abnormality ... |
ORPHA:1041 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnormal circulating a... |
ORPHA:71212 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminase, Postprandial hyp... |
ORPHA:2089 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... |
OMIM:607765 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty |
OMIM:616834 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... |
ORPHA:2298 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
ORPHA:280365 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... |
OMIM:616501 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Lipodystrop... |
OMIM:613327 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Edema, Abnormal cardiac septum morphology, Short neck |
OMIM:608776 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... |
ORPHA:1131 |
Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... |
OMIM:203800 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus |
OMIM:618856 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... |
OMIM:246200 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia |
ORPHA:2849 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic failure, Hypoal... |
OMIM:602579 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... |
OMIM:617300 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... |
OMIM:617384 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance |
ORPHA:439167 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... |
OMIM:608594 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... |
ORPHA:90301 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypothyr... |
ORPHA:79319 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... |
ORPHA:96180 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Short stature, Edema, Coa... |
ORPHA:363705 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Growth delay, Ascites, Pulmonic stenosis, Pleural effusion, Hydrops fetalis |
ORPHA:2414 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... |
OMIM:269700 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Webbed neck, Edema, Cystic hygroma |
OMIM:617822 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... |
OMIM:618156 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Attention deficit hyperactivity disorder |
OMIM:188570 |
Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis, Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Cardiomegaly... |
OMIM:115197 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... |
ORPHA:71 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hypothyroidism |
OMIM:610883 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... |
ORPHA:769 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance |
ORPHA:73272 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ventricular septal defect, Pericardial effusion, Delayed erupt... |
OMIM:235510 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Hepatic steatosis, Hypergonadotrop... |
ORPHA:91 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c |
OMIM:610582 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... |
OMIM:619167 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin resistance |
ORPHA:90153 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... |
OMIM:605814 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, Cardiomegal... |
ORPHA:555874 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Abnormal subcutaneous fat t... |
OMIM:212065 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... |
ORPHA:3464 |
Congenital Enterovirus Infection |
|
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Pleural effusio... |
ORPHA:292 |
Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Pleural effusion |
ORPHA:36412 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Redu... |
ORPHA:508 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Short Syndrome |
|
Lipodystrophy, Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... |
ORPHA:465508 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion |
ORPHA:231111 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia, Recurrent hypogl... |
ORPHA:79324 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Webbe... |
ORPHA:536532 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Intrauterine ... |
ORPHA:453499 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Intrauterine growth retardation, Pericardial effusion, Ascites, Edema, Left ventric... |
OMIM:619487 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Growth delay, Ascites, Edema, Pleural effusion, Generalized edema |
ORPHA:90362 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Whipple Disease |
|
Hepatomegaly, Hyponatremia, Insulin resistance, Splenomegaly, Hypothyroidism |
ORPHA:3452 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hypocholesterolemia, Dec... |
ORPHA:14 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Monosomy 13Q34 |
|
Hepatic steatosis, Infantile hypercalcemia, Insulin resistance |
ORPHA:96168 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Gaucher Disease Type 1 |
|
Growth delay, Pericardial effusion, Ascites, Abnormal myocardium morphology, Delayed puberty, Ped... |
ORPHA:77259 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Alg9-Cdg |
|
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Torticollis, Abnor... |
ORPHA:79328 |
Acute Interstitial Pneumonia |
|
Peripheral edema, Pleural effusion, Pericardial effusion |
ORPHA:79126 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pleural effusion, Pericardial effusion, Ascites |
ORPHA:93552 |
Myhre Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Short stature, ... |
OMIM:139210 |
Silver-Russell Syndrome |
|
Recurrent hypoglycemia, Premature adrenarche, Precocious puberty, Insulin resistance |
ORPHA:813 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Hypothyroidism, Insulin resistance |
OMIM:616541 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericardial effusion |
ORPHA:92 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Secundum atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:2260 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... |
OMIM:615710 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... |
ORPHA:681 |
Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Insulin resistance, Hyp... |
ORPHA:358 |
Kaposiform Lymphangiomatosis |
|
Abnormality of the neck, Pleural effusion, Pericardial effusion |
ORPHA:464329 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Insulin resistance, Hypogonadism, Nephrogenic diabetes insipidus, Diabetes mell... |
OMIM:209900 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... |
ORPHA:261330 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Lipodystrophy, Lipoatrophy |
OMIM:269880 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Cholestatic liver disease, Steatorrhea, Cholestasis, Portal hypertension, Postprandial... |
ORPHA:440713 |
Werner Syndrome |
|
Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Hypogonadism, Li... |
ORPHA:902 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Pericardial effusion |
OMIM:115200 |
Craniofacial Microsomia |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Branchial anomaly, Tet... |
OMIM:164210 |
Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Pericardial effusion |
OMIM:613011 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Short stature, Patent ductus arteriosus, Postnatal growth ret... |
ORPHA:1272 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... |
OMIM:619662 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pa... |
ORPHA:26793 |
Poems Syndrome |
|
Edema, Pleural effusion, Pericardial effusion, Ascites |
ORPHA:2905 |
Gaucher Disease Type 3 |
|
Growth delay, Pericardial effusion, Mitral valve calcification, Abnormal heart valve morphology, ... |
ORPHA:77261 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Diabetes... |
OMIM:609069 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... |
ORPHA:79474 |
Hennekam Syndrome |
|
Lymphedema, Mild postnatal growth retardation, Pericardial effusion, Ascites, Delayed eruption of... |
ORPHA:2136 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Reduc... |
ORPHA:2126 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Abnormal myocardium morphology, Pericardial effusion |
ORPHA:300751 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion |
OMIM:618183 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Pulmonary Capillary Hemangiomatosis |
|
Pedal edema, Pulmonary edema, Pleural effusion, Pericardial effusion |
ORPHA:199241 |
Holoprosencephaly |
|
Abnormal aortic morphology, Ventricular septal defect, Congenital diaphragmatic hernia, Branchial... |
ORPHA:2162 |
Q Fever |
|
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, P... |
ORPHA:781 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Hypocholesterolemia, Reduced circulating transferrin concentration, C... |
ORPHA:90363 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Delayed puberty,... |
OMIM:176270 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Branchial fistula, Webbed neck, Macroglossia, Tricuspid valve prolapse... |
ORPHA:261337 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... |
ORPHA:273 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis, Peritonitis |
ORPHA:391673 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... |
ORPHA:352665 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Decreased response to growth horm... |
ORPHA:96182 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Clark-Baraitser Syndrome |
|
Hyperactivity |
OMIM:617752 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk |
OMIM:618718 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia |
OMIM:271980 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Elevated hepatic transaminase, Hyperglycemi... |
ORPHA:293987 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... |
ORPHA:99413 |
Turner Syndrome |
|
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... |
ORPHA:881 |
Mosaic Monosomy X |
|
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... |
ORPHA:99228 |
Monosomy X |
|
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... |
ORPHA:99226 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperglycemia, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
Chédiak-Higashi Syndrome |
|
Edema, Pleural effusion, Pericardial effusion |
ORPHA:167 |
Bloom Syndrome |
|
Adipose tissue loss, Diabetes mellitus, Insulin resistance |
ORPHA:125 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased ... |
ORPHA:3008 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity |
OMIM:275000 |
Generalized Arterial Calcification Of Infancy |
|
Aortic dissection, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrop... |
ORPHA:51608 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait |
OMIM:300958 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Pleural effusion, Pericardial effusion |
OMIM:108050 |
Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Precocious puberty, Cholestatic liver disease |
OMIM:270400 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
Myoclonic-Astatic Epilepsy |
|
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:1942 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity |
OMIM:618314 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity |
ORPHA:101039 |
Homozygous Familial Hypercholesterolemia |
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Cerebral artery atherosclerosis, Hypertension, Myocardial steatosis, Sudden cardiac death, Mitral... |
ORPHA:391665 |
Treacher-Collins Syndrome |
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Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Pulmonary edema, Pericardial effusion |
ORPHA:73224 |
Mental Retardation, Autosomal Dominant 7 |
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Hyperactivity, Gait disturbance, Ataxia |
OMIM:614104 |
Tsh-Secreting Pituitary Adenoma |
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Pericardial effusion, Delayed puberty |
ORPHA:91347 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Stiff neck, Pericardial effusion, Ascites |
ORPHA:99827 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
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Hyperactivity |
ORPHA:369939 |
Dend Syndrome |
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Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Infantile Neuroaxonal Dystrophy |
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Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Hyperactivity |
OMIM:619239 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Lymphangioleiomyomatosis |
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Chylopericardium, Chylothorax, Ascites, Lymphedema |
ORPHA:538 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia |
ORPHA:530983 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Absence of subcutaneous fat, Cyanosis, Decreased serum leptin, Pubertal devel... |
ORPHA:740 |
Alström Syndrome |
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Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:64 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... |
ORPHA:99885 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Tenorio Syndrome |
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Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia |
OMIM:610042 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... |
ORPHA:508488 |
Sarcoidosis, Susceptibility To, 1 |
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Pleural effusion, Pericardial effusion |
OMIM:181000 |
Thyrotoxic Periodic Paralysis |
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Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Thyrotoxicos... |
ORPHA:79102 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity |
OMIM:252900 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Ataxia, Hyperactivity, Gait imbalance, Broad-based gait |
ORPHA:98794 |
Adenylosuccinase Deficiency |
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Hyperactivity, Inability to walk, Gait ataxia |
OMIM:103050 |
Spastic Paraplegia 29, Autosomal Dominant |
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Hyperactivity |
OMIM:609727 |
Branchiooculofacial Syndrome |
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Intrauterine growth retardation, Branchial anomaly, Postnatal growth retardation, Low posterior h... |
OMIM:113620 |
Scorpion Envenomation |
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Hypokalemia, Hyperglycemia, Glycosuria, Elevated circulating aspartate aminotransferase concentra... |
ORPHA:466677 |
47,Xyy Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
Pmm2-Cdg |
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Hepatic fibrosis, Insulin resistance, Hypogonadotropic hypogonadism, Abnormal subcutaneous fat ti... |
ORPHA:79318 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Hepatomegaly, Microvesicular hepatic steatosis, Decreased LDL cholesterol concentration, Micronod... |
ORPHA:404454 |
Purine Nucleoside Phosphorylase Deficiency |
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Hyperactivity, Ataxia |
ORPHA:760 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Absent gallbladder, Biliary atresia, Diabetes m... |
OMIM:600001 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm |
OMIM:234200 |
Familial Gestational Hyperthyroidism |
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Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity |
ORPHA:424 |
Legius Syndrome |
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Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Argininemia |
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Hyperactivity, Spastic gait |
OMIM:207800 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hyperglycemia, Decreased response to growth hormone stimulation test, Hypothyroidism |
ORPHA:444077 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia, Peritonitis |
ORPHA:2968 |
Rhabdomyosarcoma 2 |
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Alveolar rhabdomyosarcoma |
OMIM:268220 |