Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hemoglobin H Disease |
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Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Delta-Beta-Thalassemia |
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Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Essential Fructosuria |
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Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Transient Neonatal Diabetes Mellitus |
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Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Dystonia 31 |
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Abnormal posturing |
OMIM:619565 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Mody |
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Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Familial Renal Glucosuria |
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Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Lipodystrophy, Familial Partial, Type 3 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
Beta-Thalassemia |
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Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Insulin-Resistance Syndrome Type B |
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Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
Mohr-Tranebjaerg Syndrome |
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Abnormal posturing |
OMIM:304700 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Lipodystrophy, Familial Partial, Type 1 |
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Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Huntington Disease-Like 1 |
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Abnormal posturing, Weight loss |
ORPHA:157941 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hypokalemic Periodic Paralysis |
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Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Sandifer Syndrome |
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Abnormal posturing, Anemia |
ORPHA:71272 |
Necrotizing Enterocolitis |
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Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,... |
ORPHA:391673 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Abnormal posturing, Weight loss |
ORPHA:216866 |
Cole Disease |
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Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Hereditary Methemoglobinemia |
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Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Hyperglycemia, Obesity |
OMIM:619737 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Bardet-Biedl Syndrome 9 |
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Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Donohue Syndrome |
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Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglycemia, Postprandial hyp... |
OMIM:246200 |
Dend Syndrome |
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Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Beta-Ketothiolase Deficiency |
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Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis, Hyperglyc... |
ORPHA:134 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Abdominal obesity, Increased body weight, Hyperglycemia |
OMIM:615954 |
Fanconi-Bickel Syndrome |
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Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Greig Cephalopolysyndactyly Syndrome |
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Hyperglycemia |
OMIM:175700 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Elevated transferr... |
ORPHA:465508 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Abnormal posturing, Titubation |
ORPHA:225147 |
Vici Syndrome |
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Failure to thrive, Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytope... |
OMIM:242840 |
Short Syndrome |
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Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... |
OMIM:269880 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing |
OMIM:128100 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Pyruvate Carboxylase Deficiency |
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Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Hypoglycemia, Hyperglycemia, Failure to thrive, Anemia |
OMIM:609069 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia, Leukocytosis, Hyperglycemia |
ORPHA:90065 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
Lead Poisoning |
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Decreased HDL cholesterol concentration, Small for gestational age, Imbalanced hemoglobin synthes... |
ORPHA:330015 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Isolated Sedoheptulokinase Deficiency |
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Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia |
ORPHA:440713 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Overweight |
OMIM:619769 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Hyperglycemia, Failure to ... |
ORPHA:99885 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... |
ORPHA:508 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive |
OMIM:124000 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... |
ORPHA:466677 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... |
ORPHA:79474 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia |
ORPHA:293987 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive |
OMIM:220111 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Obesity |
ORPHA:444077 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Diabetes mellitus, Hyperglycemia, Failure to thrive, Glycosuria |
OMIM:600001 |
Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Elevated circulating glutaric acid concentration, Neonatal hypogl... |
ORPHA:66634 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Failure to thrive |
OMIM:610198 |