Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... |
ORPHA:293964 |
Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... |
ORPHA:314811 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... |
OMIM:240900 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... |
ORPHA:99886 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... |
OMIM:262400 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... |
OMIM:232700 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... |
ORPHA:411593 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71526 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... |
OMIM:615158 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adip... |
ORPHA:79085 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis |
OMIM:261650 |
Mody |
|
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre... |
ORPHA:552 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... |
ORPHA:435660 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... |
OMIM:256450 |
Plin1-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... |
ORPHA:280356 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adi... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level, Diabetic ketoac... |
OMIM:615238 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Obesity, Type II dia... |
ORPHA:71529 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Hyperinsulinemia, Hepatomegaly, Pancreatitis, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... |
OMIM:617872 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... |
OMIM:262700 |
Diarrhea 13 |
|
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, Re... |
OMIM:620357 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin... |
ORPHA:369 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... |
ORPHA:276580 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... |
OMIM:619048 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis |
ORPHA:446 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Obesity |
|
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure |
OMIM:601665 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... |
ORPHA:276575 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss... |
OMIM:604367 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weight, Hyperins... |
ORPHA:276608 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... |
OMIM:600955 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... |
OMIM:617950 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla... |
ORPHA:276556 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, Hypoglycemia |
ORPHA:67048 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... |
OMIM:262190 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... |
OMIM:608600 |
Hemochromatosis, Neonatal |
|
Cirrhosis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonad... |
ORPHA:79237 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... |
OMIM:232400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Hypoglycemia, Elevated circulating hepatic transaminase concentration, ... |
OMIM:615160 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... |
ORPHA:94086 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase c... |
OMIM:246900 |
Mehmo Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... |
OMIM:300148 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... |
OMIM:618958 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly... |
OMIM:613027 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Hypoglycemia, Elevated circulating hepatic transaminase concentration |
ORPHA:289504 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Neonatal hypoglycemia, Decreased body weight, Hypoglycemia |
ORPHA:231140 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... |
ORPHA:263455 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619386 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency |
ORPHA:35 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Reduced phosphoenolpyruvate carboxykinase activity in culture... |
OMIM:261680 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Ab... |
ORPHA:631 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Small for gestational age |
ORPHA:231147 |
Donohue Syndrome |
|
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... |
OMIM:246200 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypogly... |
ORPHA:2394 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... |
OMIM:616033 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Weight loss, Hypoglycemi... |
ORPHA:2126 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... |
ORPHA:79644 |
Obesity And Hypopigmentation |
|
Obesity, Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Insulinoma |
|
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... |
ORPHA:97279 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypoglycemia... |
OMIM:306000 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia, Reduced hepatic pho... |
OMIM:261750 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Lipoatrophy, Hepatomegaly, Pancreatitis, Increased facial adipose tissue, Loss of subcutaneous ad... |
ORPHA:280365 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... |
ORPHA:2088 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Glycosuria, Failur... |
ORPHA:2089 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Failure to thri... |
OMIM:617049 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
Glucocorticoid Deficiency 1 |
|
Abnormal circulating renin, Failure to thrive, Decreased circulating cortisol level, Abnormal cir... |
OMIM:202200 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp... |
OMIM:617093 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... |
OMIM:262600 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating alanine aminotransferase concentration, Failure to thrive, Neonatal death, E... |
OMIM:245400 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Reduced subcutaneous adipos... |
ORPHA:363400 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypogonadism |
ORPHA:163693 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:614741 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... |
OMIM:614736 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... |
OMIM:614480 |
Classic Galactosemia |
|
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... |
ORPHA:79239 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Loss of truncal subcutaneous adipose tissue, Increased intramuscu... |
OMIM:151660 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... |
OMIM:616026 |
Acth Deficiency, Isolated |
|
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... |
OMIM:201400 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... |
OMIM:618549 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hepatic failure |
ORPHA:664 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia |
ORPHA:5 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepatic steatosis, Decreased carnitine lev... |
OMIM:212140 |
Congenital Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Failure to thrive, Adip... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Loss of... |
OMIM:615381 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Elevate... |
OMIM:620454 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... |
ORPHA:254516 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Hypoglycemia, Jaundice, Elevated circulating hepatic transaminase concentr... |
OMIM:616483 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase con... |
ORPHA:264580 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... |
OMIM:256810 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... |
OMIM:600649 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... |
ORPHA:71212 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... |
ORPHA:2298 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Po... |
ORPHA:79319 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... |
ORPHA:199296 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... |
OMIM:251880 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Delayed puberty, Decreased body weight, Hypothyroidism, Dorsocervical fat pad, Hypoglycemia, Diab... |
ORPHA:391408 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Flexion contracture of toe, Hypogonadotropic hypogonadism, Finger joint contracture |
ORPHA:48431 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... |
OMIM:605911 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic failure |
ORPHA:156 |
Glucocorticoid Deficiency 3 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... |
OMIM:609197 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615453 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... |
OMIM:613986 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, C... |
ORPHA:69663 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Increased circulating prolactin concentration, Failure to thrive, Hypoglycemia, Joint contracture |
ORPHA:35708 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-chai... |
OMIM:201450 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level, Neonatal death |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level, Neonatal death |
OMIM:618839 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia, Elevated circulating hepatic transaminase concentration |
ORPHA:95428 |
Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
Long-Olsen-Distelmaier Syndrome |
|
Failure to thrive, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... |
OMIM:620609 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Fanconi-Bickel Syndrome |
|
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, ... |
OMIM:227810 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia, Small for gestational age |
ORPHA:231137 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... |
OMIM:615962 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Failure to thrive... |
OMIM:609069 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Hypoketotic hypoglycemia,... |
OMIM:231530 |
Mandibuloacral Dysplasia |
|
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... |
ORPHA:2457 |
Laron Syndrome |
|
Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrine system |
ORPHA:633 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circ... |
OMIM:212138 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Small for gestational age |
OMIM:614702 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Acute hepatic steatosi... |
OMIM:210200 |
Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... |
OMIM:614921 |
Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... |
ORPHA:95496 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Perlman Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia |
ORPHA:2849 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Hypogonadism, Insulin resistance, Hypoglycemia, Truncal obesity, Small for ges... |
ORPHA:73272 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Hypoglycemia |
OMIM:618120 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Propionyl-CoA carboxylase deficiency, Failure to thrive, Hypoglycemia |
OMIM:606054 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia |
OMIM:614739 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cholestasis, F... |
OMIM:609015 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... |
OMIM:201910 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... |
OMIM:618329 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... |
OMIM:611126 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat... |
ORPHA:79240 |
Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Insulin resistance, Obesity, Hyperinsulinemia |
OMIM:617885 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorticotropic h... |
ORPHA:199299 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Panniculitis, Generalized lipodystrophy, Acute pancrea... |
ORPHA:79086 |
Multiple Endocrine Neoplasia, Type I |
|
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... |
OMIM:131100 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Elevated alkaline pho... |
OMIM:615363 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Malonyl-Coa Decarboxylase Deficiency |
|
Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts, Hypoglycemia |
OMIM:248360 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Neonatal death, Elevated circulating alanine aminotransferase concentration, Elevat... |
OMIM:620300 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... |
OMIM:617156 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... |
ORPHA:348 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia |
ORPHA:79096 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... |
OMIM:608612 |
Glutaric Acidemia I |
|
Failure to thrive, Hypoglycemia, Hepatomegaly, Reduced peroxisomal glutaryl-CoA oxidase activity |
OMIM:231670 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Reduced muscle phosphorylase kinase activity |
OMIM:300559 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Hypoglycemia, Small for gestational age, Inguinal hernia |
ORPHA:397590 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hepatocellular carcinoma, Small for gestat... |
OMIM:180860 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... |
ORPHA:228305 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Decreased... |
ORPHA:90790 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... |
OMIM:608594 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... |
OMIM:255120 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... |
ORPHA:65682 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Hypoglycemia, Umbilical hernia |
OMIM:616638 |
Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... |
OMIM:616113 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Neonatal hypoglycemia, Splenomegaly |
OMIM:619046 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Increased circu... |
ORPHA:99901 |
Glucocorticoid Deficiency 2 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... |
OMIM:607398 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Failure ... |
OMIM:613327 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... |
OMIM:608836 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Neonatal death, Hypoglycemia, He... |
OMIM:231680 |
Familial Glucocorticoid Deficiency |
|
Hypoglycemic seizures, Ketotic hypoglycemia, Decreased circulating dehydroepiandrosterone concent... |
ORPHA:361 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micr... |
OMIM:619418 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Small for gestational age |
OMIM:618253 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatomegaly, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepa... |
OMIM:602579 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hypoglycemia, Hepatomegaly, Pancreatitis |
OMIM:251000 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, ... |
OMIM:606407 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E... |
OMIM:124000 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... |
OMIM:269700 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... |
OMIM:616860 |
Isolated Biliary Atresia |
|
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... |
ORPHA:30391 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Decreased liver function, Hepatomegaly, Jaundice, Elevated circulating alanine aminotransferase c... |
OMIM:608779 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Delayed puberty, Hypothyroidism, Small for gestational age, Recurrent hypoglycemia |
OMIM:616817 |
Maple Syrup Urine Disease, Type Ia |
|
Hypoglycemia, Pancreatitis, Reduced branched-chain alpha-keto acid dehydrogenase activity in cult... |
OMIM:248600 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose t... |
OMIM:248370 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia, Hepatomegaly |
OMIM:229700 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased serum testo... |
ORPHA:90791 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... |
OMIM:619484 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:26791 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... |
OMIM:235555 |
Porphyria Cutanea Tarda |
|
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:101330 |
Rabson-Mendenhall Syndrome |
|
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... |
ORPHA:769 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Hypoglycemia, Hepatomegaly, Splenomegaly |
OMIM:612783 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia, Elbow contracture, Inguinal hernia, Umbilical hernia |
OMIM:620275 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Abnormal circulating enzyme concentration or activity |
ORPHA:391428 |
Glycogen Storage Disease Ia |
|
Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati... |
OMIM:232200 |
D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia, Reduced hepatic D-glycerate kinase activity |
OMIM:220120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal hypoglycemia, Failure to thrive, Neonatal death, Hypoglycemia, Small for gestational age |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Ketotic hypoglycemia, Failure to thrive, Cholelithiasis |
OMIM:620646 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... |
ORPHA:79303 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... |
OMIM:607765 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Hepatomegaly, Failure to thrive |
OMIM:251110 |
Tyrosinemia, Type I |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... |
OMIM:276700 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Failure to thrive, Hypoglycemia, Joint contracture |
OMIM:618005 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Chronic hepatic failure, Failure to th... |
ORPHA:746 |
Bachmann-Bupp Syndrome |
|
Large for gestational age, Hypoglycemia |
OMIM:619075 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Hepatic stea... |
OMIM:201475 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypoglycemia, Hypo... |
ORPHA:159 |
Leprechaunism |
|
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Increased circulatin... |
ORPHA:508 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Isolated Complex I Deficiency |
|
Failure to thrive, Hypoglycemia, Diabetes mellitus, Hepatomegaly |
ORPHA:2609 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Elevated tissue non-specific alkaline phosphatase, Hype... |
ORPHA:785 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hepatomegaly, Hyperglycemia, Weight loss |
ORPHA:134 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... |
ORPHA:26793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia, Elevated circulating hepatic transaminase concentration, Hepatic failure |
OMIM:619355 |
Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
Glycogen Storage Disease Ib |
|
Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati... |
OMIM:232220 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Reduced HMG-CoA lyase activity in cultured fibroblasts, Hepatomegaly, Elevated circulating alanin... |
OMIM:246450 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... |
OMIM:615577 |
Gallbladder Disease 1 |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... |
OMIM:600803 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... |
OMIM:613658 |
Bangstad Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... |
ORPHA:1227 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
OMIM:214950 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Slender build |
OMIM:617600 |
Sheehan Syndrome |
|
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... |
ORPHA:91355 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia |
OMIM:617710 |
Mirage Syndrome |
|
Adrenal hypoplasia, Decreased body weight, Hypergonadotropic hypogonadism, Hypoplastic spleen, Hy... |
OMIM:617053 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Hypoglycemia, Propionyl-CoA carboxylase deficiency |
OMIM:210210 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Reni Syndrome |
|
Hypothyroidism, Hypoglycemia, Hypogonadism, Adrenal insufficiency |
OMIM:617575 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Thyroid carcinoma, Lipoma, Cachexia, Neoplasm of the adrenal cortex, Hashimoto thyroiditis, Hypog... |
ORPHA:109 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Reduc... |
OMIM:229600 |
Silver-Russell Syndrome |
|
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... |
ORPHA:813 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemic seizures, Hypoglycemia, Elevated circulating hepatic transaminase concentration, Com... |
ORPHA:480864 |
Alg12-Cdg |
|
Elevated circulating hepatic transaminase concentration, Abnormal adipose tissue morphology, Abno... |
ORPHA:79324 |
Acute Adrenal Insufficiency |
|
Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating renin level, F... |
ORPHA:95409 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... |
ORPHA:445038 |
Addison Disease |
|
Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Hypoglycemia, In... |
ORPHA:85138 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... |
ORPHA:20 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypoglycemia, Small for gestational age |
OMIM:607143 |
Familial Pancreatic Carcinoma |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Hepatosple... |
ORPHA:1333 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly, Umbilical hernia, ... |
OMIM:301066 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Premature pubarche, Elevated circulating hepatic transaminase concentration, Premature thelarche,... |
OMIM:616878 |
Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta... |
ORPHA:131 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym... |
ORPHA:17 |
Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... |
ORPHA:567983 |
X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Biliary Atresia, Extrahepatic |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:210500 |
Leigh Syndrome |
|
Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentration or act... |
ORPHA:506 |
Pituitary Apoplexy |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... |
ORPHA:95613 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia, Small for gestational age, Umbilical hernia |
OMIM:614501 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... |
ORPHA:293978 |
Shigellosis |
|
Splenic abscess, Cholestasis, Peritonitis, Failure to thrive in infancy, Hypoglycemia, Hepatic fa... |
ORPHA:810 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Congenital foot contractures, Abnormal circulating enzyme concentration or... |
ORPHA:565624 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Incre... |
ORPHA:79259 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hep... |
ORPHA:66634 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Hyperinsulinemia |
ORPHA:230 |
Sotos Syndrome |
|
Increased body weight, Prolonged neonatal jaundice, Neonatal hypoglycemia, Glucose intolerance |
OMIM:117550 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Neonatal hypoglycemia |
ORPHA:457485 |
Perlman Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell h... |
OMIM:267000 |
Immunodeficiency 59 And Hypoglycemia |
|
Prolonged neonatal jaundice, Hypoglycemia, Hepatomegaly |
OMIM:233600 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia, Obesity |
OMIM:608624 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Primary Sclerosing Cholangitis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple... |
ORPHA:171 |
Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... |
ORPHA:786 |
Alstrom Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Elevated circulating hep... |
OMIM:203800 |
Glycerol Kinase Deficiency |
|
Chronic pancreatitis, Reduced glycerol kinase activity in cultured fibroblasts, Adrenocortical hy... |
OMIM:307030 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration, Reduced circulating dopamine ... |
OMIM:223360 |
3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture |
OMIM:616271 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carnitine O-palmitoyltransferase 2 activit... |
ORPHA:157 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... |
ORPHA:289548 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Reduced circulating aldolase concentration, Chronic hepatic failure, Reac... |
ORPHA:469 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... |
OMIM:616007 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... |
ORPHA:168558 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia |
ORPHA:457279 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia |
OMIM:610768 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Hypoglycemia, Hyperglycemia |
OMIM:620423 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Anterior hypopituitarism, Diabetes insipidus, Panhypopituitarism... |
ORPHA:2162 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Hypoglycemia, Elevated circulating alkaline phosphatase concentration |
OMIM:620451 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Hypoglycemia, Hepatic failure |
OMIM:252010 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Jaundice |
OMIM:615751 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating ACTH level, Increased circulating androstenedione concentration, Neonatal h... |
ORPHA:90794 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carnitine O-palmitoyltransferase 2 activit... |
ORPHA:228308 |
Menkes Disease |
|
Inguinal hernia, Prolonged neonatal jaundice, Umbilical hernia, Atypical scarring of skin, Hypogl... |
ORPHA:565 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia, Flexion contracture, Scarring alopecia of scalp |
ORPHA:35173 |
Pyruvate Carboxylase Deficiency |
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Failure to thrive, Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:3008 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... |
ORPHA:96182 |
Deeah Syndrome |
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Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Anter... |
OMIM:619004 |
Beckwith-Wiedemann Syndrome |
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Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, ... |
ORPHA:116 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste... |
ORPHA:404454 |
Congenital Syphilis |
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Prolonged neonatal jaundice, Hypoglycemia, Pancreatitis, Hepatosplenomegaly |
ORPHA:499009 |
Non-Acquired Panhypopituitarism |
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Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:90695 |
Glycogen Storage Disease Ic |
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Delayed puberty, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Hy... |
OMIM:232240 |
Oculodentodigital Dysplasia |
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Camptodactyly of finger, Abnormal dental enamel morphology, Hypoglycemia, Umbilical hernia |
ORPHA:2710 |
Retinitis Pigmentosa |
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Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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Hypoglycemia |
OMIM:620224 |
Atypical Werner Syndrome |
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Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... |
ORPHA:79474 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Failure to thrive, Hypoglycemia, Jaundice |
ORPHA:79282 |
3-Methylglutaconic Aciduria, Type Viii |
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Failure to thrive, Neonatal hypoglycemia, Jaundice, Neonatal death |
OMIM:617248 |
Kabuki Syndrome 2 |
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Neonatal hypoglycemia, Decreased body weight |
OMIM:300867 |
Histiocytoid Cardiomyopathy |
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Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:137675 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Neonatal hypoglycemia, Abnormal circulating enzyme concentration or activity |
ORPHA:572798 |
Simpson-Golabi-Behmel Syndrome |
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Congenital diaphragmatic hernia, Hepatomegaly, Inguinal hernia, Omphalocele, Camptodactyly of fin... |
ORPHA:373 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Fasting hypoglycemia, Abnormal circulating enzyme concentration or activity |
ORPHA:25 |
Acute Liver Failure |
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Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic periportal necrosis, H... |
ORPHA:90062 |
Cerebral Visual Impairment |
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Neonatal hypoglycemia |
ORPHA:447788 |
Prader-Willi Syndrome |
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Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... |
OMIM:176270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Inguinal hernia, Microvesicular hepatic steatosis, Failure to thrive, Hyperglycemia, Small for ge... |
OMIM:220111 |
Cholera |
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Hypoglycemia |
ORPHA:173 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating androstenedione concentration, Joint contracture of the hand, Elevated seru... |
OMIM:201750 |
Beckwith-Wiedemann Syndrome |
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Neonatal hypoglycemia, Hepatomegaly, Omphalocele, Hepatoblastoma, Pancreatic hyperplasia, Adrenoc... |
OMIM:130650 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:95494 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99413 |
Turner Syndrome |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:881 |
Mosaic Monosomy X |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99228 |
Monosomy X |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99226 |
Primary Fanconi Renotubular Syndrome |
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Glycosuria, Hypoglycemia, Weight loss |
ORPHA:3337 |
Neurooculorenal Syndrome |
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Decreased circulating ACTH concentration, Central hypothyroidism, Decreased circulating cortisol ... |
OMIM:620305 |
Costello Syndrome |
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Failure to thrive, Hypoglycemia, Achilles tendon contracture |
OMIM:218040 |
Marburg Hemorrhagic Fever |
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Hypoglycemia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis |
ORPHA:99826 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia |
ORPHA:1848 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Large for gestational age, Neonatal hypoglycemia, Slender build |
ORPHA:457359 |
Woodhouse-Sakati Syndrome |
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Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... |
ORPHA:3464 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Steinert Myotonic Dystrophy |
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Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... |
ORPHA:273 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Neonatal hypoglycemia |
OMIM:261740 |
Alström Syndrome |
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Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... |
ORPHA:64 |
Holoprosencephaly 1 |
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Hypoglycemia, Adrenal hypoplasia, Diabetes insipidus |
OMIM:236100 |
Pmm2-Cdg |
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Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... |
ORPHA:79318 |
Sotos Syndrome |
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Neonatal hypoglycemia, Ankle flexion contracture, Inguinal hernia, Bilateral camptodactyly, Hypot... |
ORPHA:821 |
Visual Impairment And Progressive Phthisis Bulbi |
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OMIM:618283 |