Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Transient Neonatal Diabetes Mellitus |
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Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Mody |
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Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Insulinomatosis And Diabetes Mellitus |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Obesity Due To Prohormone Convertase I Deficiency |
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Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Polyendocrine-Polyneuropathy Syndrome |
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Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increase... |
ORPHA:79644 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Plin1-Related Familial Partial Lipodystrophy |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Obesity Due To Sim1 Deficiency |
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Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... |
ORPHA:2126 |
Estrogen Resistance |
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Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Insulinoma |
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Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Obesity, Hyperinsulinemia |
ORPHA:329249 |
Body Mass Index Quantitative Trait Locus 20 |
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Obesity, Hyperinsulinemia |
OMIM:618406 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Lipodystrophy, Familial Partial, Type 3 |
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Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Maternal diabetes, Insulin-resistant diab... |
OMIM:604367 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... |
ORPHA:263455 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hyperinsulinemia, Hepatomegaly, Cirrhosis, Respiratory failure, Insulin resistance, Hepatic steat... |
ORPHA:363400 |
Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Galactokinase Deficiency |
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Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Retinitis Pigmentosa |
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Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Pneumonia, Increased body ... |
ORPHA:2298 |
Tenorio Syndrome |
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Hypoglycemia, Apnea, Hypoinsulinemia, Pneumonia |
OMIM:616260 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Mpi-Cdg |
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Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... |
ORPHA:79319 |
Donohue Syndrome |
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Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... |
OMIM:246200 |
Perlman Syndrome |
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Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
Congenital Generalized Lipodystrophy |
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Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Diab... |
ORPHA:528 |
Bangstad Syndrome |
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Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
X-Linked Acrogigantism |
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Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Alstrom Syndrome |
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Asthma, Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth ho... |
OMIM:203800 |
Congenital Disorder Of Glycosylation, Type Ib |
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Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Cirrhosis, Hepat... |
OMIM:602579 |
Estrogen Resistance Syndrome |
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Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Multiple Endocrine Neoplasia Type 4 |
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Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Acquired Generalized Lipodystrophy |
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Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Insulin-resistant diabetes mellitu... |
ORPHA:79086 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... |
ORPHA:71212 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Failure to thrive, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, R... |
OMIM:613327 |
Mandibuloacral Dysplasia |
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Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 2 |
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Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant ... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608612 |
Dopamine Beta-Hydroxylase Deficiency |
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Hyperinsulinemia, Hypoglycemia, Insulin resistance, Dyspnea, Rhinitis |
ORPHA:230 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Insulin-resistan... |
OMIM:608594 |
Rabson-Mendenhall Syndrome |
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Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
Prader-Willi Syndrome |
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Abdominal obesity, Adrenal insufficiency, Sleep apnea, Hyperinsulinemia, Type II diabetes mellitu... |
OMIM:176270 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Decreased ser... |
OMIM:269700 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... |
OMIM:248370 |
Leprechaunism |
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Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Decreased body weight, Hepatomeg... |
ORPHA:508 |
Woodhouse-Sakati Syndrome |
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Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Atypical Werner Syndrome |
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Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Glycosuria... |
ORPHA:79474 |
Turner Syndrome |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... |
ORPHA:881 |
Mosaic Monosomy X |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... |
ORPHA:99228 |
Monosomy X |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... |
ORPHA:99413 |
Alström Syndrome |
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Respiratory distress, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, He... |
ORPHA:64 |
Pmm2-Cdg |
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Respiratory distress, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hormone co... |
ORPHA:79318 |