| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... |
OMIM:618858 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... |
OMIM:606176 |
| Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... |
ORPHA:293964 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus |
OMIM:619278 |
| Mahvash Disease |
|
Type II diabetes mellitus, Increased glucagon level, Pancreatic alpha-cell hyperplasia, Recurrent... |
OMIM:619290 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... |
OMIM:618620 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... |
ORPHA:99886 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... |
OMIM:260370 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Mody |
|
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... |
ORPHA:552 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Increased glucagon level, Glucagonoma, Abnormal biliary tract morphology, Neoplas... |
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, Hyperglycemia, Male hypogonadism, Glucose intolerance |
OMIM:307500 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... |
OMIM:608600 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... |
OMIM:147630 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance |
OMIM:614296 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceride... |
OMIM:232700 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... |
OMIM:604367 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... |
OMIM:610947 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:609968 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... |
ORPHA:324575 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Multiple Endocrine Neoplasia Type 4 |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:276152 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:306000 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Insulin resistance, Elevated hemoglobin A1c, Impaired glucose tolerance, Gly... |
OMIM:617253 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... |
ORPHA:411593 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... |
ORPHA:79299 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... |
ORPHA:276580 |
| Donohue Syndrome |
|
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, He... |
OMIM:246200 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia |
ORPHA:2089 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... |
ORPHA:2298 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... |
ORPHA:263458 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... |
ORPHA:79084 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276608 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age, Steatorrhea |
OMIM:615935 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... |
ORPHA:71526 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gall... |
OMIM:615710 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction |
OMIM:612227 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria |
OMIM:618857 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... |
ORPHA:276575 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset truncal obesit... |
ORPHA:71529 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... |
OMIM:220111 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... |
ORPHA:453533 |
| Zollinger-Ellison Syndrome |
|
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... |
ORPHA:913 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia, ... |
ORPHA:280356 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Impaired glucose tole... |
ORPHA:2088 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... |
OMIM:606721 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... |
ORPHA:276556 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Wolfram-Like Syndrome |
|
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Diabetes mellitus, Centr... |
ORPHA:411590 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Weight loss, Hepatomegaly, Testicular atroph... |
ORPHA:465508 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia |
OMIM:175700 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... |
OMIM:151660 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... |
ORPHA:66628 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Hypoinsulinemia, Weight loss,... |
ORPHA:2126 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... |
ORPHA:179494 |
| Insulinoma |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... |
ORPHA:97279 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Red... |
ORPHA:99885 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperl... |
OMIM:608612 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... |
ORPHA:79237 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... |
ORPHA:1227 |
| Necrotizing Enterocolitis |
|
Peritonitis, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
| Short Syndrome |
|
Hyperglycemia, Small for gestational age, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... |
OMIM:610199 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... |
OMIM:619326 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| African Iron Overload |
|
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... |
ORPHA:139507 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Hyperglycemia, Hypercholesterolemia, Hypopituitarism |
ORPHA:90065 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperglycemia,... |
OMIM:248370 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Type I diabetes mellitus, Small for gestational age, Failure to thrive, Diab... |
OMIM:557000 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Steatorrhea, Pancreatic calcification, ... |
OMIM:167800 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Glucose intolerance |
OMIM:619127 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... |
ORPHA:263455 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypogonadism, Obesity |
ORPHA:791 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Steatorrhea, Cholestasis, Hepatitis, Cholestatic liver disease, Porta... |
ORPHA:440713 |
| Perlman Syndrome |
|
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Hepatomegaly, Delayed... |
ORPHA:456312 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemia, Impaired ... |
ORPHA:769 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycys... |
ORPHA:528 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia |
ORPHA:134 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
ORPHA:363400 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Glucose intolerance, Exocrine pancreatic insufficiency, Imp... |
OMIM:137920 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... |
OMIM:601346 |
| Hemochromatosis, Type 4 |
|
Impaired glucose tolerance, Glucose intolerance |
OMIM:606069 |
| Leprechaunism |
|
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Enlarged ovaries, Insul... |
ORPHA:508 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Failure to thrive |
OMIM:602579 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal spleen morphology, Failure to thrive, Aplasia/Hypoplasia of the pancreas... |
ORPHA:2470 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Failure to thrive, Absent gall... |
OMIM:600001 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... |
ORPHA:785 |
| Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... |
ORPHA:79086 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Spl... |
OMIM:615630 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia |
ORPHA:261265 |
| Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hypopituitarism, Steatorrhea, Hepatomegaly, Pancreatic hypopla... |
ORPHA:811 |
| X-Linked Acrogigantism |
|
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... |
ORPHA:300373 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypergonadotropic hypogonadism, Hepatomegaly, Pancreatic hypoplasia, Type I diabetes mellitus, Sp... |
OMIM:602782 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Gonadotropin deficiency, Premature adrenarche, Central hypothyroidism, Hyperlipidemia, Obesity, A... |
ORPHA:293987 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Pancreatic aplasia, Small for g... |
ORPHA:556955 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Pancreatic calcification, Diabetes mellitus, Recurrent pancreatitis |
ORPHA:676 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, H... |
ORPHA:71212 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hepatic steatosis, Hypothyroidism, Jaundice, Abnormality of exocrine pancreas physiology, Diabete... |
ORPHA:93111 |
| Atypical Werner Syndrome |
|
Ovarian neoplasm, Fasting hyperinsulinemia, Abnormal testis morphology, Hyperinsulinemia, Hepatic... |
ORPHA:79474 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia |
ORPHA:3008 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, Biliary atresia, Anteri... |
ORPHA:2255 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Glucose intolerance, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Splen... |
OMIM:235200 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Glucose intolerance, Impaired glucose tolerance, Abnormality of the liver, Failure to thrive |
OMIM:610131 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... |
ORPHA:2457 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... |
OMIM:203800 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Glucose intolerance, Failure to thrive |
OMIM:614407 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hypothyroidism, Pancreatic fibrosis, Steatorrhea, Hepatic fibrosis, Hepatomega... |
OMIM:616263 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance |
OMIM:309620 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Fail... |
OMIM:613327 |
| Dextrocardia |
|
Abnormality of the spleen, Pancreatic hypoplasia, Abnormality of abdominal situs |
ORPHA:1666 |
| Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Thyrot... |
ORPHA:79102 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... |
OMIM:219090 |
| Scorpion Envenomation |
|
Hyperglycemia, Glycosuria, Acute pancreatitis |
ORPHA:466677 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... |
OMIM:608594 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Obesity, Hypothyroidism, Hyperglycemia, Decreased response to growth hormone stimuation test |
ORPHA:444077 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Hyperlipidem... |
ORPHA:3464 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... |
OMIM:269700 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cryptorchidism, Biliary hyperplasia, Cholelithiasis, Hepatomegaly, Pancreatic hypoplasia, Failure... |
ORPHA:83617 |
| Aceruloplasminemia |
|
Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology |
ORPHA:48818 |
| Prader-Willi Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Failure to thrive in infancy, Obesity, Adrenal insufficiency, D... |
OMIM:176270 |
| Gitelman Syndrome |
|
Maternal diabetes, Graves disease, Glucose intolerance, Insulin resistance, Primary hyperaldoster... |
ORPHA:358 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Hypoglycemia, Insulin resistance |
ORPHA:230 |
| Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Neonatal hypoglycemia, Hepatomegaly, Pancreatic hyperplasia, Adrenocortical carci... |
OMIM:130650 |
| Ataxia-Telangiectasia |
|
Glucose intolerance, Female hypogonadism, Hypoplasia of the thymus, Delayed puberty, Diabetes mel... |
OMIM:208900 |
| Sotos Syndrome 1 |
|
Glucose intolerance |
OMIM:117550 |
| Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Impaired glucose tolerance, Glucose intolerance, Abnormality of the thymus |
OMIM:208910 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Goiter, Glucose intolerance, Hypothyroidism, Hyperthyroidism, Failure to thrive, Diabetes mellitu... |
ORPHA:254892 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic ... |
ORPHA:273 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Glucose intoleranc... |
ORPHA:99413 |
| Turner Syndrome |
|
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Glucose intoleranc... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Glucose intoleranc... |
ORPHA:99228 |
| Monosomy X |
|
Cirrhosis, Increased circulating gonadotropin level, Abnormality of the ovary, Glucose intoleranc... |
ORPHA:99226 |
| Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pseudohypoparathyroidis... |
ORPHA:116 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargement of paroti... |
ORPHA:449432 |
| Aniridia 1 |
|
Increased proinsulin:insulin ratio, Glucose intolerance |
OMIM:106210 |
| Alström Syndrome |
|
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... |
ORPHA:64 |
| Primrose Syndrome |
|
Glucose intolerance, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Truncal obesity, C... |
OMIM:259050 |
| Williams-Beuren Syndrome |
|
Glucose intolerance, Early onset of sexual maturation, Hypothyroidism, Failure to thrive in infan... |
OMIM:194050 |
| Pmm2-Cdg |
|
Elevated circulating growth hormone concentration, Aplasia of the ovary, Hyperinsulinemia, Insuli... |
ORPHA:79318 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Glycosuria |
OMIM:227810 |
