| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyperplasia, Sple... |
OMIM:237800 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:179700 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... |
OMIM:261000 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... |
OMIM:206100 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Hepatomegaly, Sp... |
OMIM:612526 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hepatic fibrosis, Hyperinsulinemia, Hyp... |
ORPHA:280356 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Hyperinsulinemia |
ORPHA:71529 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hyp... |
OMIM:604367 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... |
ORPHA:90044 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Hypertriglyceridemia, Hepatic steatosis, Insulin resistance, Insulin-... |
OMIM:613877 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Anemia |
OMIM:238700 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
| Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Type II diabetes mellitus, Insulin resistanc... |
ORPHA:181393 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... |
ORPHA:98870 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperlipidemia, Elevated hepatic transaminase, Hyperinsulinemia |
ORPHA:329249 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Hepati... |
ORPHA:79085 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... |
ORPHA:79299 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... |
OMIM:620211 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased serum leptin |
OMIM:617885 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance |
ORPHA:140941 |
| Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Spherocytosis, Type 2 |
|
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:616649 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Stomato... |
OMIM:185000 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... |
ORPHA:435660 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... |
OMIM:616860 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
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 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, A... |
OMIM:608600 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Diabetes mellitus, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, ... |
ORPHA:79084 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lipodystrophy, Diabetes mellitus, Elevated circulating ... |
OMIM:615980 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Spherocytosis, Type 1 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:182900 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... |
OMIM:620010 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... |
ORPHA:324575 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... |
OMIM:235700 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized lipodystrophy, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceridemia, Reduc... |
ORPHA:363400 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... |
OMIM:147630 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1296 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... |
ORPHA:66628 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... |
ORPHA:276580 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia... |
ORPHA:2457 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lipodystrophy, Diabetes mellitus, Elevated circulating alanine aminotransferase concentration, He... |
OMIM:615381 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... |
OMIM:224120 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hy... |
OMIM:606762 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Excessive insulin response to glucagon test, Hepatomegaly, Increased C-pept... |
ORPHA:276575 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... |
ORPHA:179494 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... |
ORPHA:293964 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hepatomegaly, H... |
OMIM:151660 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Increase... |
OMIM:615234 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... |
ORPHA:436182 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Cortisone Reductase Deficiency 2 |
|
Premature pubarche, Insulin resistance |
OMIM:614662 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increased t... |
OMIM:619868 |
| Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in females, Hepatomegal... |
ORPHA:528 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Hereditary Elliptocytosis |
|
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... |
ORPHA:288 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... |
ORPHA:35878 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... |
OMIM:617021 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Impaired glucose tolerance, Hypertriglyceridemia, Glucos... |
OMIM:610947 |
| Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypergalactosemia, Hepatomegaly, Increased level of galactitol in plasma, Hyp... |
ORPHA:79237 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Iron deficiency anemia, Increased to... |
OMIM:616278 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular volume, Hyperhomocystine... |
OMIM:277410 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Neonatal hypoglycemia, Multiple pancreatic beta-cell adenomas, Elevated circulating growth hormon... |
ORPHA:79644 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Hyperuricemia, Lipoatrophy, Diabetes mellitus, Pancreatitis, Hepatomegaly, Cir... |
ORPHA:79083 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71526 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... |
ORPHA:276608 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... |
OMIM:300908 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Reticulocytosis, Decreased hem... |
OMIM:266200 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Generalized lipodystrophy, Hepatomegaly, Hyperinsulinem... |
ORPHA:79086 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Increased resting energy expenditure, Hyperinsulinemia |
ORPHA:369873 |
| Primary Lipodystrophy |
|
Lipodystrophy, Lipoatrophy, Pancreatitis, Cirrhosis, Hyperlipidemia, Type II diabetes mellitus, H... |
ORPHA:90970 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating insulin concentration, Abnormal circulating selenium c... |
ORPHA:171706 |
| Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipodystrophy, Lipoatrophy, Diabetes mellitus, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, ... |
ORPHA:2348 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hepat... |
ORPHA:276556 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Abnormality of the neck, Polyhydramnios, Abnormal heart morphology, Pe... |
ORPHA:1041 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Hepatomegaly, Splenomegaly |
OMIM:610539 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... |
ORPHA:71275 |
| Sick Sinus Syndrome 2 |
|
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Cantu Syndrome |
|
Short neck, Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pe... |
OMIM:239850 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... |
ORPHA:1227 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hy... |
OMIM:616033 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
| Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Elevated circulating aspartate aminotransferase concentra... |
OMIM:617253 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia |
ORPHA:713 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Mody |
|
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc... |
ORPHA:552 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Hyperhomocystinemia, Pancytopenia, Hypometh... |
ORPHA:2169 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:306000 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Hypertrig... |
ORPHA:435651 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Generalized lipodystrophy, Hyperinsulinemia, Hyperg... |
OMIM:608612 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Short neck |
OMIM:613885 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Decreased tra... |
ORPHA:300298 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... |
OMIM:614702 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
| Long Qt Syndrome 15 |
|
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Lymphatic Malformation 7 |
|
Increased nuchal translucency, Nonimmune hydrops fetalis, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Cir... |
OMIM:607765 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitin... |
ORPHA:71212 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Elevated hepatic transaminase, Hyperlipidemia, Ketotic hy... |
ORPHA:2089 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance |
ORPHA:199276 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... |
ORPHA:99886 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Short stature, Dilated ca... |
OMIM:252011 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
| Majeed Syndrome |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... |
OMIM:609628 |
| Glycogen Storage Disease Vii |
|
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate conc... |
OMIM:232800 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating aspartate aminotransferase concentration, Steatorrhea, Elevated circulating ... |
OMIM:615558 |
| Familial Renal Glucosuria |
|
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... |
ORPHA:69076 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Hepat... |
ORPHA:263455 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Insulinoma |
|
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... |
ORPHA:97279 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Panc... |
ORPHA:280365 |
| Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... |
ORPHA:86839 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Edema, Short neck, Pericardial effusion, Abnormal cardiac septum morphology, Ascites |
OMIM:608776 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Abnormal circulating lipid concentration, Biliary cirrhosis, Increased seru... |
ORPHA:2298 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
| X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormal mitral valve morphology, Short stature, Branchial anomaly, Webbed nec... |
ORPHA:1131 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lipodystrophy, Impaired glucose tolerance, Calcinosis, Hepatomegaly, Hyperinsulinemia, Hyperglyce... |
OMIM:248370 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperglycemia, Type II diabetes me... |
OMIM:615812 |
| Alstrom Syndrome |
|
Hyperuricemia, Chronic active hepatitis, Multinodular goiter, Diabetes insipidus, Hepatomegaly, E... |
OMIM:203800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Verheij Syndrome |
|
Short neck, Ventricular septal defect, Intrauterine growth retardation, Short stature, Branchial ... |
OMIM:615583 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Placental Insufficiency |
|
Hypoxemia, Insulin resistance |
ORPHA:439167 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean ... |
OMIM:617052 |
| Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Hepatomegaly, Elevated hepatic transaminase, Hyperinsulinemia, Elevated circulatin... |
OMIM:613327 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Decrease... |
OMIM:616959 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concentratio... |
ORPHA:822 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus |
OMIM:618856 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Bdv Syndrome |
|
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... |
OMIM:619326 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fa... |
OMIM:602579 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, H... |
OMIM:267700 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy, Hepatomegaly, Increased C-peptide level, Hypertriglyceridemia, Decreased serum lep... |
OMIM:615238 |
| Biliary Atresia, Extrahepatic |
|
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
| Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Growth delay, Pleural effusion, Ascites |
ORPHA:2414 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Lipodystrophy, Diabetes mellitus, Hepatomegaly, Elevated hepatic transaminase, Hyperinsulinemia, ... |
OMIM:608594 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Adipose tissue loss, Postprandial hyperglycemia, Cholestasis, Pancreatic is... |
OMIM:246200 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... |
OMIM:613280 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... |
OMIM:615954 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... |
OMIM:615363 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... |
ORPHA:811 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance, Calcinosis |
ORPHA:90154 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
| Chylomicron Retention Disease |
|
Steatorrhea, Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hypertriglyc... |
ORPHA:71 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
| Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
| Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemi... |
ORPHA:79319 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... |
OMIM:600955 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Lipodystrophy, Hepatomegaly, Elevated hepatic transaminase, Hyperinsulinemia, Cirrhosis, Hypertri... |
OMIM:269700 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:127550 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Aortic aneurysm, Polyhydramnios, Short stature, Pericardial effusion, Multi... |
OMIM:620070 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... |
ORPHA:90301 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia, Hepatomegaly |
OMIM:266510 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatocellular carcinoma, Impaired glucose tolerance, Hypophosphatemia, Gly... |
ORPHA:2088 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabet... |
OMIM:618858 |
| Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hypothyroidism |
OMIM:610883 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Diabetes insipidus, Abetalipoproteinemia, Elevated circu... |
ORPHA:96180 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia |
OMIM:222100 |
| Craniofaciofrontodigital Syndrome |
|
Coarctation of aorta, Edema, Atrial septal defect, Ventricular septal defect, Lower eyelid edema,... |
ORPHA:363705 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia |
ORPHA:261250 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Normocytic anemia, Anemia, Elevated circulating creatine kinase concen... |
OMIM:611881 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabet... |
OMIM:606176 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| 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 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Hypocholes... |
OMIM:618156 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Hyponatremia, Increase... |
OMIM:603553 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... |
OMIM:614300 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis, Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... |
ORPHA:785 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Increased p... |
ORPHA:769 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hyperbilirubinemia, Abnormal serum bile acid concentration, Extramedullary hematopoiesis, Conjuga... |
ORPHA:79303 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Hypoglycemia, Neonatal hyperbilirubinemia, Insulin resistance |
ORPHA:73272 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231222 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Per... |
OMIM:235510 |
| Alkuraya-Kucinskas Syndrome |
|
Cystic hygroma, Edema, Pericardial effusion, Pleural effusion, Webbed neck |
OMIM:617822 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
| Short Syndrome |
|
Lipodystrophy, Lipoatrophy, Absence of subcutaneous fat, Hyperglycemia, Glucose intolerance, Insu... |
OMIM:269880 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... |
OMIM:619167 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
| Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Hyperbilirubinemia |
OMIM:301094 |
| Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Ins... |
ORPHA:91 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Hyperbilirubinemia, Lymphocytosis, Hypoalbuminemia, Iron deficiency anemia, Hypon... |
ORPHA:1667 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabete... |
OMIM:609812 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin resistance |
ORPHA:90153 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defect, Pulmonary ... |
OMIM:115197 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Intrauterine growth retard... |
ORPHA:555874 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Liver abscess, Intrahepatic cholestasis, Neoplasm of the l... |
ORPHA:69663 |
| Branchiogenic Deafness Syndrome |
|
Branchial fistula, Branchial cyst, Short stature |
ORPHA:50815 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Attention deficit hyperactivity disorder |
OMIM:619075 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
| Congenital Enterovirus Infection |
|
Myocarditis, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Fetal ascites, Pericardial effusion... |
ORPHA:292 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Hypogonadism, Decreased response to growth hormone stimulation test, Hyperinsuli... |
ORPHA:3464 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Abnormal heart valve morphology, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:36412 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Hypoglycemia, Elevated circu... |
ORPHA:230 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Hyperbilirubinemi... |
OMIM:557000 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Pleural effusion, Generalized edema, Ascites |
ORPHA:90362 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... |
OMIM:259720 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
| Leprechaunism |
|
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... |
ORPHA:508 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cystic hygroma, Ventricular septal defect, Atrial septal defect, A... |
ORPHA:453499 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Alg12-Cdg |
|
Abnormal adipose tissue morphology, Recurrent hypoglycemia, Elevated hepatic transaminase, Hypoch... |
ORPHA:79324 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Ventricular septal ... |
OMIM:618280 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Abnormal subcutaneous... |
OMIM:212065 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
| Short Syndrome |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance |
ORPHA:3163 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu... |
OMIM:619313 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardial effusion, Ventricular s... |
OMIM:618775 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lipodystrophy, Impaired glucose tolerance, Recurrent pancreatitis, Absence of subcutaneous fat, H... |
OMIM:606721 |
| Aicardi-Goutieres Syndrome 9 |
|
Edema, Left ventricular hypertrophy, Intrauterine growth retardation, Pericardial effusion, Peric... |
OMIM:619487 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... |
ORPHA:231214 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Thrombocytopenia, Splen... |
OMIM:251880 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Elevated transferrin saturation, Testicular atrophy, Diabetes mellitus,... |
ORPHA:465508 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Umbilical hernia, Carotid artery stenosis, Pericardial effusion, Mitral val... |
ORPHA:536532 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:293939 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... |
ORPHA:453533 |
| Gaucher Disease Type 1 |
|
Delayed puberty, Abnormal myocardium morphology, Pericardial effusion, Growth delay, Pedal edema,... |
ORPHA:77259 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypopituitarism, Hypercholesterolemia, Hypothyroidism |
ORPHA:90065 |
| Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, A... |
ORPHA:412 |
| X-Linked Acrogigantism |
|
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:300373 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocytosis, Splenomegaly |
OMIM:608885 |
| Monosomy 13Q34 |
|
Hypercalcemia, Hepatic steatosis, Insulin resistance |
ORPHA:96168 |
| Abetalipoproteinemia |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hepatic fibrosis, Hepatomegaly, Elevated he... |
ORPHA:14 |
| Whipple Disease |
|
Hepatomegaly, Splenomegaly, Insulin resistance, Hypothyroidism, Hyponatremia |
ORPHA:3452 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Increased blood... |
ORPHA:447 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cardiomyopathy, Pericardial effusion |
OMIM:620089 |
| Werner Syndrome |
|
Lipodystrophy, Hypogonadism, Lipoatrophy, Thyroid carcinoma, Type II diabetes mellitus, Insulin r... |
ORPHA:902 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Pediatric Systemic Lupus Erythematosus |
|
Pleural effusion, Pericardial effusion, Edema, Ascites |
ORPHA:93552 |
| Acute Interstitial Pneumonia |
|
Pleural effusion, Peripheral edema, Pericardial effusion |
ORPHA:79126 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Anasarca, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy, Perip... |
OMIM:261740 |
| Alg9-Cdg |
|
Torticollis, Short neck, Hydrops fetalis, Ventricular septal defect, Rhizomelia, Low posterior ha... |
ORPHA:79328 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Conjugated hyperbilirubinemia |
OMIM:617049 |
| Silver-Russell Syndrome |
|
Recurrent hypoglycemia, Premature adrenarche, Insulin resistance, Precocious puberty |
ORPHA:813 |
| Wilson Disease |
|
Hemolytic anemia, Anemia, Hypouricemia, Increased circulating copper concentration, Dysphagia, Hy... |
OMIM:277900 |
| Hepatocellular Carcinoma |
|
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocytosis, Hyponatr... |
ORPHA:88673 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Aortic aneurysm, Branch... |
ORPHA:261330 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Biliary... |
OMIM:615710 |
| Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Agitation, Anemia, Attention deficit hyperactivity disorder, Increased total ... |
ORPHA:84081 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
| Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Pericardial effusion |
OMIM:613011 |
| Myhre Syndrome |
|
Coarctation of aorta, Short neck, Ventricular septal defect, Atrial septal defect, Intrauterine g... |
OMIM:139210 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Abnormal circulating lipid concentration, Insulin resistance, Hypothyroidism |
OMIM:616541 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
