| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus |
OMIM:619278 |
| Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... |
OMIM:619290 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
| Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas, Glucagonoma, Increas... |
ORPHA:438274 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, Hy... |
OMIM:604367 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:616192 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Pancreatic Agenesis 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... |
OMIM:260370 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
| Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Impaired glucose tolerance, Hypertrigly... |
OMIM:617253 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... |
ORPHA:2298 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... |
ORPHA:79084 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... |
OMIM:246200 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age, Steatorrhea |
OMIM:615935 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus |
OMIM:277700 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... |
ORPHA:280356 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ... |
ORPHA:2088 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Hypertriglyceridem... |
OMIM:151660 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum testosterone concentration,... |
ORPHA:465508 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
| Wolfram-Like Syndrome |
|
Glucose intolerance, Hypothyroidism, Male hypogonadism, Primary gonadal insufficiency, Central di... |
ORPHA:411590 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Hyperglycemia |
OMIM:619737 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia |
OMIM:175700 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Glucose intolerance, Glycosuria |
OMIM:616539 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... |
ORPHA:2126 |
| Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia |
OMIM:615986 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:608612 |
| Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
| Necrotizing Enterocolitis |
|
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
| Short Syndrome |
|
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:269880 |
| Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Leukemia, Type II diabetes mellitus |
OMIM:210900 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Hypopituitarism, Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Elevated hemoglobin A1c, Insulin-resis... |
OMIM:269700 |
| African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hypoplasia, Hepati... |
OMIM:610199 |
| Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... |
OMIM:167800 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hyperlipidemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant dia... |
OMIM:248370 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular... |
ORPHA:3085 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Cholestasis, Hepatitis, Porta... |
ORPHA:440713 |
| Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism, Obesity, Abnormal testis morphology |
ORPHA:791 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan... |
ORPHA:456312 |
| Perlman Syndrome |
|
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Glucose intolerance |
OMIM:619127 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Insulin resista... |
ORPHA:528 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Weight loss, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... |
ORPHA:363400 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
| Renal Cysts And Diabetes Syndrome |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly... |
OMIM:137920 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
| Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Decreased body wei... |
ORPHA:508 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Acute pancreatitis, Hypertriglycer... |
ORPHA:79086 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Absent gallbladder, Diabet... |
OMIM:600001 |
| Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... |
ORPHA:79319 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... |
ORPHA:2470 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Hepatomegaly, Splenomegaly, Cholestasis, Impaired glucose tolerance, Hepatic... |
OMIM:615630 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Hepatic f... |
OMIM:602579 |
| 17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus |
ORPHA:261265 |
| Atypical Werner Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Ovarian neoplasm, Hyperinsulinemia, Decreased body ... |
ORPHA:79474 |
| Shwachman-Diamond Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth ... |
ORPHA:811 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
| X-Linked Acrogigantism |
|
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... |
ORPHA:300373 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... |
ORPHA:71212 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, Small for g... |
ORPHA:556955 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Hypergonadotro... |
OMIM:602782 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... |
ORPHA:293987 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,... |
ORPHA:2255 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Glucose intolerance, Failure to thrive, Abnormality of the liver, Impaired glucose tolerance |
OMIM:610131 |
| Hemochromatosis, Type 1 |
|
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic ... |
OMIM:235200 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive, Hepatomegaly, Hyperglycemia |
ORPHA:3008 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... |
ORPHA:2457 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... |
OMIM:203800 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Failure to thrive, Impaired glucose tolerance |
OMIM:614407 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hypothyroidism, Hepatic fibros... |
OMIM:616263 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance |
OMIM:309620 |
| Dextrocardia |
|
Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen |
ORPHA:1666 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Thyrotoxicosis with toxic single thy... |
ORPHA:79102 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Increased circulating ACTH level, Impa... |
OMIM:219090 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Insulin re... |
OMIM:613327 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Acute pancreatit... |
OMIM:608594 |
| Scorpion Envenomation |
|
Acute pancreatitis, Glycosuria, Hyperglycemia |
ORPHA:466677 |
| Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test, Hyperglycemia |
ORPHA:444077 |
| Liver Disease, Severe Congenital |
|
Hydrocele testis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperinsuli... |
OMIM:619991 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hyperlipidemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Pancreatic hypoplasia, Biliary hyperplasia, Cryp... |
ORPHA:83617 |
| Aceruloplasminemia |
|
Abnormal pancreas morphology, Elevated hepatic iron concentration, Diabetes mellitus |
ORPHA:48818 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Type II diabetes mellitus, Decreased ... |
OMIM:176270 |
| Sotos Syndrome |
|
Glucose intolerance, Prolonged neonatal jaundice, Neonatal hypoglycemia, Increased body weight, C... |
OMIM:117550 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Grav... |
ORPHA:358 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Failure to thrive, Small for gestational age, Impaired glucose tolerance, Hy... |
OMIM:606721 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Adrenocortical cytomegaly, Neonatal hypogly... |
OMIM:130650 |
| Ataxia-Telangiectasia |
|
Glucose intolerance, Failure to thrive, Hypoplasia of the thymus, Delayed puberty, Diabetes melli... |
OMIM:208900 |
| Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Glucose intolerance, Abnormality of the thymus, Impaired glucose tolerance |
OMIM:208910 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Glucose intolerance, Failure to thrive, Hyperthyroidism, Hypothyroidism, Diabetes mellitus, Goite... |
ORPHA:254892 |
| Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:99413 |
| Turner Syndrome |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:99228 |
| Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Type II diabetes mellitus, Hyperi... |
ORPHA:99226 |
| Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Abnormality of the thyroid gland, Abnormal salivary g... |
ORPHA:449432 |
| Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... |
ORPHA:116 |
| Aniridia 1 |
|
Glucose intolerance, Increased proinsulin:insulin ratio |
OMIM:106210 |
| Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hypergonadotropic hypogo... |
ORPHA:64 |
| Yellow Fever |
|
Acute pancreatitis, Pancreatic hyperplasia, Jaundice |
ORPHA:99829 |
| Primrose Syndrome |
|
Glucose intolerance, Hypergonadotropic hypogonadism, Truncal obesity, Hypothyroidism, Delayed pub... |
OMIM:259050 |
| Williams-Beuren Syndrome |
|
Glucose intolerance, Early onset of sexual maturation, Hypothyroidism, Portal hypertension, Diabe... |
OMIM:194050 |
| Pmm2-Cdg |
|
Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinemia, Hypogonad... |
ORPHA:79318 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Glycosuria |
OMIM:227810 |
