| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Iron Overload, Susceptibility To |
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Elevated circulating hepcidin concentration, Type II diabetes mellitus, Elevated transferrin satu... |
OMIM:620121 |
| Glycogen Storage Disease 0, Liver |
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Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Glucocorticoid Deficiency 3 |
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Recurrent hypoglycemia |
OMIM:609197 |
| Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinism Due To Glucokinase Deficiency |
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Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Cataract 47 |
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Glycosuria, Cataract, Microcornea |
OMIM:612018 |
| Genetic Hyperferritinemia Without Iron Overload |
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Abnormal serum iron concentration, Cataract, Increased circulating ferritin concentration, Elevat... |
ORPHA:254704 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Corneal Dystrophy, Groenouw Type I |
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Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
| Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
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Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Neonatal Hemochromatosis |
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Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
| Iron Overload In Africa |
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Elevated transferrin saturation |
OMIM:601195 |
| Glycogen Storage Disease Vi |
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Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
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Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
| Cataract-Microcornea Syndrome |
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Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Hemochromatosis, Type 5 |
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Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Hemochromatosis, Type 4 |
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Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Cataract, Increas... |
OMIM:606069 |
| Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Hemochromatosis, Neonatal |
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Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Hyperinsulinism-Hyperammonemia Syndrome |
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Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... |
ORPHA:35878 |
| X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis, Glucose intolerance |
ORPHA:75563 |
| Megalocornea |
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Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Exfoliation Syndrome |
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Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Hemochromatosis Type 2 |
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Diabetes mellitus, Elevated transferrin saturation, Increased circulating ferritin concentration,... |
ORPHA:79230 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| 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 |
| Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
| Anterior Segment Dysgenesis 8 |
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Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| 3-Methylglutaconic Aciduria Type 4 |
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Iris hypopigmentation, Cataract, Hypoglycemia |
ORPHA:67048 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Hypoadrenocorticism, Familial |
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Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Cataract 10, Multiple Types |
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Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
| Galactokinase Deficiency |
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Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Cataract, Hypoglyce... |
ORPHA:79237 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypoglycemia, Hypercholesterolemia |
OMIM:306000 |
| Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
| Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia |
ORPHA:2089 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... |
ORPHA:552 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:199296 |
| Aceruloplasminemia |
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Diabetes mellitus, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin conce... |
OMIM:604290 |
| Ectopia Lentis Et Pupillae |
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Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Cataract 5, Multiple Types |
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Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
| Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hypouricemia |
OMIM:616026 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoac... |
ORPHA:2298 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... |
ORPHA:465508 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Beta-Thalassemia Intermedia |
|
Diabetes mellitus, Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
| Visceral Steatosis, Congenital |
|
Hypocalcemia, Hypoglycemia |
OMIM:228100 |
| Dominant Beta-Thalassemia |
|
Diabetes mellitus, Abnormality of iron homeostasis |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Diabetes mellitus, Abnormality of iron homeostasis |
ORPHA:231214 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra... |
ORPHA:309854 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
