| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| 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 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
| 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 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
| 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 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
| 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 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| 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 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... |
ORPHA:181393 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy |
OMIM:232700 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... |
ORPHA:280356 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67046 |
| Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... |
OMIM:604367 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
| Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... |
ORPHA:79237 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... |
ORPHA:2298 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Hypogonadism |
OMIM:617872 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:610090 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... |
OMIM:602088 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... |
OMIM:615415 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Glucocorticoid Deficiency 1 |
|
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... |
OMIM:202200 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... |
OMIM:246200 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Failure to thrive, Small for gestational age |
OMIM:614702 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Small for gestational age |
ORPHA:231147 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
| Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age |
ORPHA:231140 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... |
OMIM:263200 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Diabetes mellitus, Insulin re... |
ORPHA:528 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67048 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
| X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive |
OMIM:617156 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hypogonadism |
ORPHA:163693 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... |
ORPHA:95496 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... |
ORPHA:71212 |
| Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Craniosynostosis, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidne... |
ORPHA:251004 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Failure to thrive |
OMIM:617950 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Inguinal hernia, Absent in utero rib ossification, Cystic renal dysplasia, Enla... |
OMIM:608022 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Nephropathy, Weight loss, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
| Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidney, Renal dysp... |
OMIM:608836 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circu... |
OMIM:201400 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608612 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Nephri... |
OMIM:617303 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesho... |
OMIM:306955 |
| Carnitine Deficiency, Systemic Primary |
|
Hypoglycemia, Recurrent hypoglycemia, Failure to thrive, Impaired gluconeogenesis |
OMIM:212140 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age |
OMIM:615160 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
| H Syndrome |
|
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Camptodactyly, Enlarged kidney, Lipody... |
ORPHA:168569 |
| Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Osteoporosis, Enlarged kidne... |
OMIM:232200 |
| Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Osteoporosis, ... |
OMIM:232220 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Enlarged kidney, Situs i... |
OMIM:208540 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia |
OMIM:613327 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia, Nephroblastoma, Enla... |
OMIM:130650 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Nephroblastoma, Lipoatrophy, Enlarged kidney |
ORPHA:276280 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney, Omphalocele |
OMIM:200995 |
| Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Decreased body weight, Insulin r... |
ORPHA:508 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Hepatomegaly, Enlarged kidney, Abnormality of connective tissue, Weight loss |
ORPHA:79128 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
| Alg9-Cdg |
|
Abnormal bone ossification, Atrial septal defect, Hepatomegaly, Ureteral hypoplasia, Hypoplasia o... |
ORPHA:79328 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia |
ORPHA:2126 |
| Tyrosinemia, Type I |
|
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated urinary delta-a... |
OMIM:276700 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Osteolysis, Pericardial ... |
ORPHA:464329 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Atrial septal defect, Flexion contracture, Hepatosplenomegaly, Heparan sulfat... |
ORPHA:505248 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Precocious puberty, Type II diabetes ... |
OMIM:176270 |
| Mucolipidosis Ii Alpha/Beta |
|
Failure to thrive, Hepatomegaly, Inguinal hernia, Splenomegaly, Craniosynostosis, Osteopenia, Enl... |
OMIM:252500 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive |
ORPHA:5 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:151660 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance |
OMIM:248370 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Nephroblastoma, Multicystic kidney dysplasia, Abnormal right ventricle morpholog... |
ORPHA:500095 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... |
ORPHA:449395 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Neonatal death, Decreased circulating cortisol level |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Neonatal death, Decreased circulating cortisol level |
OMIM:618839 |
| Endocrine-Cerebroosteodysplasia |
|
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus |
OMIM:612651 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... |
ORPHA:860 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Hepatomegaly, Congenital diaphragmatic hernia, Inguinal hernia, Splenomegaly, Co... |
ORPHA:116 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
| Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Failure to thrive, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Failure to thrive, Hepatomegaly, Osteopenia, Osteoporosis, Enlarged kidney, Tubu... |
ORPHA:79259 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:210200 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Atypical Werner Syndrome |
|
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Glycosuria... |
ORPHA:79474 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
| Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Failure to thrive |
OMIM:617049 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Decreased serum leptin, Diabete... |
OMIM:608594 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Global glomerulosclerosis, Secundum atrial septal defect, Atrial septal de... |
OMIM:300855 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Decreased serum leptin, Type II... |
OMIM:269700 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... |
ORPHA:731 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
| Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Atrial septal defect, Congenital diaphragmatic hernia, Right ventricular hypertroph... |
OMIM:312870 |
| 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 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
| Visceral Steatosis, Congenital |
|
Hypoglycemia, Neonatal death |
OMIM:228100 |
| Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
| Liver Disease, Severe Congenital |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:619991 |
| Pmm2-Cdg |
|
Failure to thrive, Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonad... |
ORPHA:79318 |
| Alström Syndrome |
|
Precocious puberty in females, Hyperinsulinemia, Type II diabetes mellitus, Decreased circulating... |
ORPHA:64 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Early Infantile Epileptic Encephalopathy |
|
Failure to thrive, Precocious puberty |
ORPHA:1934 |
| Developmental And Epileptic Encephalopathy 30 |
|
|
OMIM:616341 |
| Infantile Spasms Syndrome |
|
|
ORPHA:3451 |
| Early Myoclonic Encephalopathy |
|
|
ORPHA:1935 |
