Lipomatosis, Multiple Symmetric |
|
Lipoma |
OMIM:151800 |
Lipomatosis, Multiple |
|
Multiple lipomas |
OMIM:151900 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Polyphagia, Increas... |
ORPHA:71529 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
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 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
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 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Obesity |
|
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure |
OMIM:601665 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat, Insulin-resistant diabetes m... |
ORPHA:79085 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Decreased ... |
ORPHA:435660 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Decreased serum leptin, Hypogonadism |
OMIM:614962 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystrophy, Insulin-resis... |
ORPHA:435651 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67046 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity |
ORPHA:791 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Glucocorticoid Deficiency 1 |
|
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... |
OMIM:202200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism |
OMIM:617872 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Hyperinsulin... |
ORPHA:2298 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... |
ORPHA:363400 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia |
ORPHA:2126 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:306000 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Lipodystrophy, Adipose tissue... |
ORPHA:528 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... |
OMIM:246200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia |
ORPHA:364 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Decre... |
ORPHA:280365 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circu... |
OMIM:201400 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Obesity, Hypogonadotropic hypogonadism, Decreased circulating cortisol level |
OMIM:600955 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ... |
OMIM:608612 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... |
ORPHA:79237 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... |
OMIM:608594 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive |
OMIM:617156 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Diabetes mellitus, Hypergly... |
OMIM:609069 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... |
ORPHA:95496 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia |
OMIM:613027 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Flexion contracture, Lipodystrophy, Dysphagia, Insulin resis... |
OMIM:613327 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestati... |
ORPHA:226313 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulatin... |
ORPHA:95717 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resista... |
ORPHA:79086 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Atypical Werner Syndrome |
|
Failure to thrive, Decreased body weight, Type II diabetes mellitus, Hyperinsulinemia, Lipoatroph... |
ORPHA:79474 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... |
ORPHA:95716 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Polydipsia, Precocious puberty, R... |
ORPHA:769 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Failure to thrive, Hypothermia |
OMIM:245400 |
Permanent Congenital Hypothyroidism |
|
Hypothermia, Thyroid dysgenesis, Hypothyroidism, Umbilical hernia, Goiter |
ORPHA:226292 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... |
ORPHA:71212 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture |
OMIM:614008 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Hypothermia, Decreased circulating T4 concentration,... |
ORPHA:226307 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... |
ORPHA:508 |
Rett Syndrome |
|
Failure to thrive, Increased serum leptin |
ORPHA:778 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Steatorrhea |
OMIM:602579 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentr... |
ORPHA:90674 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... |
ORPHA:226316 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaire... |
ORPHA:90673 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Hypothermia |
OMIM:251880 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal scarring, Failure to thrive, Impaired oropharyngeal swallow response, Small for gestation... |
ORPHA:404454 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Prader-Willi Syndrome |
|
Abdominal obesity, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemia, Precocious... |
OMIM:176270 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... |
ORPHA:3464 |
Congenital Hypothyroidism |
|
Hypothermia, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypo... |
ORPHA:442 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Small for gestational age, Hypoketotic hypoglycemia, Obesity, Overweight |
ORPHA:26793 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Female hypogonadism, Delayed menarche, Pubertal developmental failure i... |
ORPHA:740 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Failure to thrive, Hypothermia |
OMIM:618329 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Obesity, Hypothermia, Elbow flexion contracture |
OMIM:618493 |
Alexander Disease |
|
Failure to thrive, Hypothermia, Precocious puberty, Hypothyroidism, Diabetes mellitus, Dysphagia |
ORPHA:58 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hypothermia |
ORPHA:159 |
Menkes Disease |
|
Hypothermia, Inguinal hernia, Chondrocalcinosis, Hypoglycemia, Hernia, Umbilical hernia, Atypical... |
ORPHA:565 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Weight loss, Hypothermia, Recurrent hypoglycemia |
ORPHA:20 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypoglycemia, Failure to thrive, Hypothermia, Flexion contracture |
ORPHA:17 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypothermia, Polydipsia, Adrenocorticotropic hormone deficiency, Decreased response to growth hor... |
ORPHA:293987 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thy... |
OMIM:218700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Small for gestational age |
OMIM:618775 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Failure to thrive, Hypothermia |
ORPHA:79282 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, High urinary gonadotropin level... |
ORPHA:99226 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Occipital Horn Syndrome |
|
Hypothermia, Hiatus hernia, Inguinal hernia, Keloids, Femoral hernia, Atypical scarring of skin, ... |
ORPHA:198 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dysphagia, Failure to thrive, Hypothermia |
ORPHA:255210 |
Pmm2-Cdg |
|
Failure to thrive, Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hor... |
ORPHA:79318 |
Sarcoidosis |
|
Hypothermia, Hyperthyroidism, Abnormality of the adrenal glands, Hypothyroidism, Scarring, Weight... |
ORPHA:797 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Hypothermia, Fasciitis, Dysphagia, Atypical scarring of skin |
ORPHA:642 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Abnormality of the endocrine system, Precocious puberty, Hypothermia, Increased... |
ORPHA:438213 |
Alström Syndrome |
|
Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Decreased circulating... |
ORPHA:64 |