Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty |
ORPHA:140941 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:615703 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance |
ORPHA:2398 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
OMIM:613877 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... |
ORPHA:79085 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:604367 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:306000 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia |
ORPHA:67046 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia |
OMIM:145750 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hyperlipidemia, Diabetes mellitus |
OMIM:615980 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, Hypoglycemic se... |
ORPHA:276580 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... |
OMIM:614736 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... |
ORPHA:280356 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... |
ORPHA:79644 |
Neonatal Hemochromatosis |
|
Hypoglycemia |
ORPHA:446 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... |
ORPHA:435660 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia |
OMIM:232400 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Acquired Partial Lipodystrophy |
|
Insulin resistance |
ORPHA:79087 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizures, Fasting hyp... |
ORPHA:276575 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276556 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Delayed puberty |
ORPHA:369 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Diarrhea 13 |
|
Recurrent hypoglycemia |
OMIM:620357 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Male hypogonadism |
OMIM:615381 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Insulin resistance, Hyper... |
ORPHA:528 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Laron Syndrome |
|
Abnormality of the endocrine system, Hypercholesterolemia, Hypoglycemia, Delayed puberty |
ORPHA:633 |
Seckel Syndrome 10 |
|
Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Elevated circulating luteini... |
OMIM:617253 |
Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Hypoglycemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... |
ORPHA:94086 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia |
OMIM:614741 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Delayed p... |
OMIM:300148 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... |
ORPHA:95619 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:231140 |
Pparg-Related Familial Partial Lipodystrophy |
|
Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, ... |
ORPHA:79083 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypoglycemia |
ORPHA:163693 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:2298 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
ORPHA:2348 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:246900 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia |
OMIM:261750 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia |
OMIM:620137 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:79086 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:26792 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia |
OMIM:619048 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Central hypothyroidis... |
OMIM:616113 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia |
ORPHA:289504 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia |
OMIM:266150 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A... |
ORPHA:95496 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Adrenal insufficiency |
OMIM:619386 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Hemochromatosis, Neonatal |
|
Hypoglycemia |
OMIM:231100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:615160 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia |
OMIM:618958 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Insulin resistance, Hypoglycemia |
ORPHA:73272 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:618120 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Hypoketotic hypoglycemia |
OMIM:255120 |
Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Type II diabetes mellitus, Decreased response to grow... |
ORPHA:254516 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... |
ORPHA:263455 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased... |
ORPHA:435651 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp... |
ORPHA:71212 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Fasting hypoglycemia, Glycos... |
ORPHA:2088 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Delayed puberty |
ORPHA:90154 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia |
OMIM:616483 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:613327 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Short Syndrome |
|
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia |
ORPHA:79096 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia |
ORPHA:2394 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia |
OMIM:614702 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:615812 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Aromatase Deficiency |
|
Insulin resistance, Hyperlipidemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:91 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Ins... |
ORPHA:280365 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Xanthelasma, Fasting hypoglycemia, Delayed puberty |
OMIM:232200 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:79239 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia |
OMIM:201450 |
Pituitary Apoplexy |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:95613 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... |
OMIM:615577 |
Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Recurrent hypoglycemia, Precocious puberty |
ORPHA:813 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypoglycemia, Glycosuria |
OMIM:616026 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia |
OMIM:600649 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... |
OMIM:246200 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia |
OMIM:245400 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Maple Syrup Urine Disease |
|
Hypoglycemia |
OMIM:248600 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Diabetes mellitus, Hypoglycemia, Delayed puberty |
ORPHA:391408 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Pituitary adenoma, Decrea... |
ORPHA:199299 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Cog8-Cdg |
|
Hypoglycemia |
ORPHA:95428 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia, Delayed puberty, Hypercholesterolemia |
ORPHA:264580 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia |
OMIM:618253 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
ORPHA:42 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Recurrent infan... |
ORPHA:508 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Ketotic hypoglycemia, Recurrent hypoglycemia, Fasting hypoglycemia, Hyperch... |
ORPHA:79240 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Recurrent hypoglycemia |
OMIM:212140 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia |
OMIM:229700 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Neonatal h... |
OMIM:606407 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia |
OMIM:617710 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Neonatal hypoglycemia |
OMIM:212138 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia |
OMIM:619046 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia |
OMIM:210200 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia |
OMIM:246450 |
Werner Syndrome |
|
Hypogonadism, Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus |
ORPHA:902 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia, Hypothyroidism, Delayed puberty |
OMIM:616817 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia |
ORPHA:391428 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mel... |
OMIM:151660 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia |
ORPHA:348 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia |
OMIM:617049 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia |
OMIM:611126 |
Propionic Acidemia |
|
Hypoglycemia |
OMIM:606054 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia |
OMIM:616638 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Diabetes mellitus, Hypothyroidism |
OMIM:616541 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Hypoglycemia |
ORPHA:397590 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia |
OMIM:301032 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia |
OMIM:619075 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Delayed puberty |
OMIM:232220 |
Whipple Disease |
|
Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
OMIM:180860 |
Monosomy 13Q34 |
|
Insulin resistance |
ORPHA:96168 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Adrenal insufficiency |
OMIM:307030 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia |
OMIM:620275 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Primary adrenal insuffici... |
ORPHA:95409 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia |
OMIM:251000 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad... |
ORPHA:85138 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia |
OMIM:617600 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Insulin resistance, Fa... |
ORPHA:96182 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia |
OMIM:620300 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Anterior ... |
ORPHA:226307 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
D-Glyceric Aciduria |
|
Hypoglycemia |
OMIM:220120 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:203800 |
Glutaric Acidemia I |
|
Hypoglycemia |
OMIM:231670 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Gitelman Syndrome |
|
Maternal diabetes, Insulin resistance, Delayed puberty, Parathyroid adenoma, Glucose intolerance,... |
ORPHA:358 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Delayed puberty |
OMIM:232240 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glycosuria |
OMIM:231680 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
ORPHA:26793 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia... |
OMIM:248370 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... |
ORPHA:168558 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Steatorrhea |
OMIM:602579 |
Bardet-Biedl Syndrome 1 |
|
Nephrogenic diabetes insipidus, Insulin resistance, Diabetes mellitus, Hypogonadism |
OMIM:209900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Type I... |
OMIM:606721 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hyperlipidemia, Hypoketotic hypoglycemia |
ORPHA:157 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia |
OMIM:619355 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:617053 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures, Xanthelas... |
ORPHA:79259 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia |
OMIM:607143 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia |
OMIM:201475 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619418 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche |
OMIM:616878 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Hypoglycemia |
OMIM:618005 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:90695 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia |
ORPHA:228305 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia |
OMIM:210210 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
ORPHA:26791 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Neonatal hypoglycemia |
ORPHA:457485 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia |
OMIM:608836 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
OMIM:614921 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia |
ORPHA:457279 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia |
OMIM:618329 |
Isolated Complex I Deficiency |
|
Diabetes mellitus, Hypoglycemia |
ORPHA:2609 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia |
OMIM:617093 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia |
OMIM:609015 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia |
ORPHA:565624 |
Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia |
OMIM:233600 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Bloom Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:125 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia |
OMIM:620224 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hyperlipidemia, Hypoketotic hypoglycemia |
ORPHA:228308 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia |
OMIM:251880 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia |
OMIM:615751 |
Sotos Syndrome |
|
Glucose intolerance, Neonatal hypoglycemia |
OMIM:117550 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia |
ORPHA:99901 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hypoglycemia |
OMIM:608779 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Neonatal hypoglycemia |
ORPHA:66634 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis |
ORPHA:109 |
Cholera |
|
Hypoglycemia |
ORPHA:173 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... |
OMIM:608594 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia |
OMIM:614501 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia |
ORPHA:35173 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypoketotic hypoglycemia |
ORPHA:746 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Hypocholesterolemia |
ORPHA:79324 |
Leigh Syndrome |
|
Hypoglycemia |
ORPHA:506 |
3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia |
OMIM:616271 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellit... |
OMIM:269700 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia |
ORPHA:572798 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Decreased circulating ACTH con... |
OMIM:620305 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:95494 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Hypoglycemia |
OMIM:256810 |
Perlman Syndrome |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Recurrent hypoglycemia |
ORPHA:20 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:300867 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia |
OMIM:617156 |
Shigellosis |
|
Hypoglycemia |
ORPHA:810 |
Holoprosencephaly |
|
Diabetes mellitus, Hypoglycemia, Diabetes insipidus, Anterior hypopituitarism, Panhypopituitarism |
ORPHA:2162 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Hypoglycemia |
OMIM:301066 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypoglycemia |
ORPHA:17 |
Hereditary Fructose Intolerance |
|
Reactive hypoglycemia |
ORPHA:469 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia |
ORPHA:79282 |
Deeah Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased c... |
OMIM:619004 |
Tyrosinemia, Type I |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:276700 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypoglycemia |
OMIM:252010 |
Histiocytoid Cardiomyopathy |
|
Hypoglycemia |
ORPHA:137675 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Insulin resistance, Delayed menarche, Pubertal devel... |
ORPHA:740 |
Menkes Disease |
|
Hypoglycemia |
ORPHA:565 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resis... |
ORPHA:79474 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Glycosuria |
OMIM:229600 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Glycosuria |
ORPHA:3337 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Holoprosencephaly 1 |
|
Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia |
OMIM:236100 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia |
ORPHA:373 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoglycemia |
OMIM:613658 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Hypoglycemia, Adrenocortical carcinoma, Pseudohypoparathyroidism, Hypo... |
ORPHA:116 |
Acute Liver Failure |
|
Hypoglycemia, Adrenal insufficiency |
ORPHA:90062 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal hypoglycemia |
OMIM:617248 |
Costello Syndrome |
|
Hypoglycemia |
OMIM:218040 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia |
OMIM:220111 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia |
ORPHA:457359 |
Alström Syndrome |
|
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... |
ORPHA:64 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia |
ORPHA:99826 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia |
OMIM:130650 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Sotos Syndrome |
|
Hypothyroidism, Neonatal hypoglycemia |
ORPHA:821 |