Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... |
OMIM:237800 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Hypogonadism, ... |
ORPHA:181393 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... |
ORPHA:79085 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance |
OMIM:617885 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... |
OMIM:620010 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... |
OMIM:235700 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... |
OMIM:232800 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transaminase, Hypogonadism, I... |
OMIM:615381 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, ... |
OMIM:606762 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Increased C-peptide level, Cirrhos... |
ORPHA:528 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... |
ORPHA:288 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... |
OMIM:616278 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipoatrophy |
ORPHA:79087 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... |
OMIM:266200 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Increased level of galactitol in ... |
ORPHA:79237 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci... |
ORPHA:79083 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... |
OMIM:618892 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... |
ORPHA:79086 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Primary Lipodystrophy |
|
Hyperlipidemia, Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Splenomegaly, Cirrhosis, Li... |
ORPHA:90970 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Diabe... |
ORPHA:2348 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Lymphedema, Patent d... |
OMIM:239850 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia |
ORPHA:713 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
Hydrops Fetalis |
|
Abnormality of the neck, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion,... |
ORPHA:1041 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissu... |
OMIM:608612 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hepatic ... |
ORPHA:435651 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... |
ORPHA:71212 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... |
ORPHA:2089 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Splenomegal... |
OMIM:607765 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... |
OMIM:252011 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... |
ORPHA:2298 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... |
OMIM:611590 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... |
ORPHA:280365 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Short neck, Edema, Ascites, Pericardial effusion |
OMIM:608776 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Abnormality of the pulmonary ... |
ORPHA:1131 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneou... |
ORPHA:822 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... |
OMIM:203800 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Placental Insufficiency |
|
Insulin resistance, Hypoxemia |
ORPHA:439167 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cirrhosis, Hepatic fib... |
OMIM:602579 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,... |
OMIM:613327 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... |
OMIM:613280 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... |
OMIM:615954 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-c... |
OMIM:246200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... |
ORPHA:811 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance |
ORPHA:90154 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Growth delay, Ascites |
ORPHA:2414 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hepatic fi... |
ORPHA:79319 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic gl... |
ORPHA:2088 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hypocholesterolemia, De... |
ORPHA:96180 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... |
OMIM:613027 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Lower eyelid edema, Aortic valve stenosis, Short sta... |
ORPHA:363705 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... |
OMIM:611881 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity |
OMIM:239500 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Hypocholesterolemia |
OMIM:610883 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
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 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Pulmonary artery stenosis, Severe postnatal growth retardation |
ORPHA:435938 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Chylomicron Retention Disease |
|
Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipid d... |
ORPHA:71 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... |
ORPHA:79303 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Neonatal hyperbilirubinemia, Hypogonadism, Insulin resistance |
ORPHA:73272 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Alkuraya-Kucinskas Syndrome |
|
Cystic hygroma, Pericardial effusion, Edema, Webbed neck |
OMIM:617822 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Mild postnatal growth retardation, Delayed eruption of teeth, Spina bifida ... |
OMIM:235510 |
Aromatase Deficiency |
|
Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Insulin resistance, He... |
ORPHA:91 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Glycine Encephalopathy |
|
Hyperglycinemia, Hyperactivity |
OMIM:605899 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... |
OMIM:619167 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Bachmann-Bupp Syndrome |
|
Attention deficit hyperactivity disorder, Hyperbilirubinemia |
OMIM:619075 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Muscular ventricular septal defect,... |
OMIM:115197 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... |
ORPHA:3464 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Refractory sideroblast... |
OMIM:557000 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Congenital Enterovirus Infection |
|
Hydrops fetalis, Myocarditis, Polyhydramnios, Pericardial effusion, Pleural effusion, Fetal ascit... |
ORPHA:292 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion |
ORPHA:36412 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... |
OMIM:259720 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia |
OMIM:214950 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
Phenylketonuria |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hyperphenylalaninemia, Maternal hyperphe... |
OMIM:261600 |
Leprechaunism |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hypokalemia, H... |
ORPHA:508 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Short Syndrome |
|
Insulin resistance, Lipodystrophy, Diabetes mellitus |
ORPHA:3163 |
Alg12-Cdg |
|
Abnormal adipose tissue morphology, Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbum... |
ORPHA:79324 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Decreased s... |
ORPHA:465508 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Macroglossia, Atrioventricular canal defect, Ventric... |
ORPHA:453499 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion |
ORPHA:231111 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a... |
OMIM:606721 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Hypothyroidism, Elevated hepatic trans... |
OMIM:212065 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Aicardi-Goutieres Syndrome 9 |
|
Left ventricular hypertrophy, Edema, Pericarditis, Ascites, Intrauterine growth retardation, Peri... |
OMIM:619487 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosis, Webbed ne... |
ORPHA:536532 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... |
OMIM:618280 |
Histidinemia |
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Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
Primary Intestinal Lymphangiectasia |
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Pleural effusion, Edema, Generalized edema, Growth delay, Ascites, Pericardial effusion |
ORPHA:90362 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
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Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypothyroidism, Hypopituitarism, Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
X-Linked Acrogigantism |
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Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
Whipple Disease |
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Hepatomegaly, Splenomegaly, Hypothyroidism, Hyponatremia, Insulin resistance |
ORPHA:3452 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
ORPHA:234 |
Monosomy 13Q34 |
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Insulin resistance, Infantile hypercalcemia, Hepatic steatosis |
ORPHA:96168 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Dysbetalipoproteinemia |
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Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:412 |
Abetalipoproteinemia |
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Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Steatorrhea,... |
ORPHA:14 |
Polyendocrine-Polyneuropathy Syndrome |
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Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Gaucher Disease Type 1 |
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Pedal edema, Abnormal myocardium morphology, Delayed puberty, Growth delay, Ascites, Pericardial ... |
ORPHA:77259 |
Werner Syndrome |
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Type II diabetes mellitus, Thyroid carcinoma, Lipoatrophy, Lipodystrophy, Hypogonadism, Insulin r... |
ORPHA:902 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Conjugated hyperbilirubinemia |
OMIM:619484 |
Alg9-Cdg |
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Torticollis, Atrial septal defect, Thickened nuchal skin fold, Short neck, Hydrops fetalis, Ventr... |
ORPHA:79328 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity |
OMIM:301076 |
Acute Interstitial Pneumonia |
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Peripheral edema, Pericardial effusion, Pleural effusion |
ORPHA:79126 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Liver Failure, Infantile, Transient |
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Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Distal Xq28 Microduplication Syndrome |
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Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder |
ORPHA:293939 |
Pediatric Systemic Lupus Erythematosus |
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Pleural effusion, Ascites, Pericardial effusion, Edema |
ORPHA:93552 |
Hypokalemic Periodic Paralysis |
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Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... |
ORPHA:681 |
Silver-Russell Syndrome |
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Insulin resistance, Recurrent hypoglycemia, Precocious puberty, Premature adrenarche |
ORPHA:813 |
Distal 22Q11.2 Microdeletion Syndrome |
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Atrial septal defect, Short stature, Branchial fistula, Camptodactyly of finger, Ventricular sept... |
ORPHA:261330 |
Myhre Syndrome |
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Atrial septal defect, Aortic valve stenosis, Short stature, Short neck, Birth length less than 3r... |
OMIM:139210 |
Familial Thyroid Dyshormonogenesis |
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Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95716 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Insulin resistance, Abnormal circulating lipid concentration, Hypothyroidism, Diabetes mellitus |
OMIM:616541 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
Juvenile Idiopathic Arthritis |
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Joint swelling, Pericardial effusion |
ORPHA:92 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
Mitchell-Riley Syndrome |
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Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... |
OMIM:615710 |
Isolated Sedoheptulokinase Deficiency |
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Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Cholestasis, Hepatitis, Porta... |
ORPHA:440713 |
Cardiomyopathy, Dilated, 1A |
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Dilated cardiomyopathy, Pericardial effusion |
OMIM:115200 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Oligomeganephronia |
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Branchial cyst, Hypertension, Secundum atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:2260 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Hepatocellular Carcinoma |
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Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyponatremia, Hyp... |
ORPHA:88673 |
Kaposiform Lymphangiomatosis |
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Abnormality of the neck, Pericardial effusion, Pleural effusion |
ORPHA:464329 |
Marbach-Rustad Progeroid Syndrome |
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Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Glucose intolerance, Hypomagnesemia, Type II diabetes mellitus, Hypokal... |
ORPHA:358 |
Lathosterolosis |
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Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr... |
OMIM:607330 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Short Syndrome |
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Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:269880 |
Paroxysmal Nocturnal Hemoglobinuria |
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Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... |
ORPHA:447 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:619737 |
Wilson Disease |
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Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, H... |
OMIM:277900 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pe... |
ORPHA:26793 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Glycosuria, Generalized lipodystrophy, ... |
ORPHA:79474 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Transient hyperphenylalaninemia, Hyperactivity |
OMIM:612716 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Purine Nucleoside Phosphorylase Deficiency |
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Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... |
ORPHA:760 |