Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postna... |
OMIM:615961 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... |
ORPHA:314811 |
Short Stature Due To Partial Ghr Deficiency |
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Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... |
ORPHA:314802 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Isolated Growth Hormone Deficiency, Type Ia |
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Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Growth dela... |
OMIM:262400 |
Glycogen Storage Disease Vi |
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Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia, Intrauterine growth retardation, Severe short stature |
OMIM:223500 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism |
OMIM:616113 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... |
ORPHA:171706 |
Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... |
OMIM:619290 |
Transient Neonatal Diabetes Mellitus |
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Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... |
ORPHA:1227 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Diabe... |
ORPHA:181393 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... |
OMIM:262600 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Glucocorticoid Deficiency 2 |
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Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Adrenal Hypoplasia, Cytomegalic Type |
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Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Glucocorticoid Deficiency 1 |
|
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... |
OMIM:202200 |
Periodic Fever, Menstrual Cycle-Dependent |
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Increased circulating cortisol level |
OMIM:614674 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... |
ORPHA:438274 |
Late-Onset Familial Hypoaldosteronism |
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Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556037 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... |
OMIM:613370 |
Early-Onset Familial Hypoaldosteronism |
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Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556030 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Excessi... |
ORPHA:324575 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hyperins... |
ORPHA:552 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Insulinomatosis And Diabetes Mellitus |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Maturity-Onset Diabetes Of The Young, Type 11 |
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Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Acth Deficiency, Isolated |
|
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... |
OMIM:201400 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Growth delay |
OMIM:616111 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepat... |
OMIM:617872 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Small for gestational age, Short stature, Hypoglycemia, Neonatal hypoglyce... |
ORPHA:231140 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... |
OMIM:219080 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:67046 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,... |
ORPHA:199296 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... |
ORPHA:369 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... |
OMIM:601410 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Intrauterine growth retardation, Hyperhidrosis, Small for gestational age |
ORPHA:231147 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Increased hepatic glycoge... |
OMIM:613027 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Intrauterine growth retardation |
OMIM:618838 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
Patterson Pseudoleprechaunism Syndrome |
|
Premature adrenarche, Increased circulating cortisol level, Diabetes mellitus |
OMIM:169170 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Growth delay |
OMIM:306000 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Somatostatinoma |
|
Neoplasm of the pancreas, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitar... |
ORPHA:97283 |
Vipoma |
|
Elevated calcitonin, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid glan... |
ORPHA:97282 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Cirrhosis, ... |
OMIM:617156 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration |
OMIM:145295 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Short stature, Hypoglycemia, Hypertriglyceridem... |
OMIM:307030 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:610090 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency, Intrauterine growth retardation, Short stature |
OMIM:619025 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Short stature |
ORPHA:364 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... |
ORPHA:2089 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Elevated circulating growth hormone concentration, Hepatomegaly, Incre... |
ORPHA:97287 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Intrauterine growth retardation, Neonatal death |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Intrauterine growth retardation, Neonatal death |
OMIM:618839 |
Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Birth length le... |
OMIM:300148 |
Nelson Syndrome |
|
Type II diabetes mellitus, Adrenocorticotropic hormone excess, Increased circulating cortisol lev... |
ORPHA:199244 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... |
OMIM:171400 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... |
OMIM:618160 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Growth delay, Hypogonadism |
ORPHA:163693 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis |
OMIM:232400 |
Glucagonoma |
|
Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulati... |
ORPHA:97280 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Ppoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97278 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Failure to thrive, Small for gestational age |
OMIM:614702 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism,... |
ORPHA:95496 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Laron Syndrome |
|
Abnormality of the endocrine system, Severe short stature, Hypohidrosis, Truncal obesity, Hypogly... |
ORPHA:633 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:95619 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... |
ORPHA:73272 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Neoplasm of the adrenal gland, Glucocortocoid-insensitive prim... |
ORPHA:231625 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:619048 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Hyperhidrosis |
ORPHA:231137 |
Grfoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97261 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Intrauterine growth retardation |
ORPHA:26792 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67048 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Short stature, Eleva... |
OMIM:202010 |
Wolfram-Like Syndrome |
|
Glucose intolerance, Primary gonadal insufficiency, Severe postnatal growth retardation, Hypothyr... |
ORPHA:411590 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... |
ORPHA:3143 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Short stature, Delayed puberty, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... |
OMIM:606176 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... |
OMIM:231100 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Decreased circulating cortisol level |
OMIM:103230 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the endocrine system, Precocious puberty in females, Thyroid carcinoma, Elevated c... |
ORPHA:249 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... |
ORPHA:263455 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... |
ORPHA:2126 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Failure to thrive, Hepatomegaly, Intrauterine growth retardation |
OMIM:618958 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism |
OMIM:612079 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluco... |
OMIM:212140 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Chole... |
OMIM:246200 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, ... |
OMIM:604367 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis |
OMIM:619386 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Short stature |
ORPHA:48431 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia, Intrauterine growth retardation, Hyperhidrosis, Short stature |
OMIM:618905 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Failure to thrive |
OMIM:617950 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... |
ORPHA:652 |
Cushing Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:96253 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly |
ORPHA:35 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:614741 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Delayed puberty, Postnatal growth retardation, Decreased serum insulin-like growth... |
OMIM:618985 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Neonatal death, Hypoglycemia, Growth delay, Intrauterine growth retardation, H... |
OMIM:245400 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short stature, Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:246900 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ... |
ORPHA:2088 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Failure to thrive |
ORPHA:289504 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Hyperchol... |
ORPHA:254531 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Cirrhosis, Macr... |
OMIM:256810 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:618253 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age |
OMIM:615160 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... |
ORPHA:2298 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypothyroi... |
ORPHA:391408 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypogonadism |
OMIM:617575 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Intrauterine growth retardation, Hyperinsulinemic hypoglycemia, Hypoketotic hy... |
ORPHA:71212 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia, Hepatomegaly |
ORPHA:156 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Short stature, Decreased circulating cort... |
ORPHA:90795 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Addison Disease |
|
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease... |
ORPHA:85138 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... |
ORPHA:264580 |
Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypothyroidism, Hypoglycemia, Postnatal growth retardation, Intrauteri... |
ORPHA:397590 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia |
ORPHA:5 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Short stature, Postnatal growth retard... |
OMIM:609981 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:436174 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Short stature |
OMIM:618120 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... |
OMIM:606407 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... |
ORPHA:289548 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... |
ORPHA:168558 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Growth delay, Small for gestational age, Short stature, Hypothyroidism, Delayed puberty, Recurren... |
OMIM:616817 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Increased circulatin... |
OMIM:177735 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic steatosis, In... |
OMIM:261680 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Failure to thrive |
ORPHA:79096 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increa... |
ORPHA:79240 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Failure to thrive, Pseudohypoaldosteronism, Hyperaldosteronism |
OMIM:264350 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature |
OMIM:248360 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Short stature, Abnormality of circula... |
ORPHA:320 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... |
ORPHA:79085 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:2394 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... |
ORPHA:96184 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hypoglycemia... |
OMIM:232200 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Failure to thrive |
OMIM:614739 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hype... |
ORPHA:528 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... |
ORPHA:2457 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... |
ORPHA:363400 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... |
ORPHA:90794 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly |
OMIM:255120 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Classic Galactosemia |
|
Hepatomegaly, Hypoglycemia, Delayed puberty, Jaundice, Decreased serum insulin-like growth factor 1 |
ORPHA:79239 |
Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Hepatomegaly, Intestinal carcinoid... |
ORPHA:100079 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency, Intrauterine growth retardation |
OMIM:618238 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hypoglycemic seizures, Growth delay, Hepatic necrosis, Hepatic steatosis |
OMIM:231530 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... |
OMIM:615577 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... |
OMIM:610600 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Hepatocellular ... |
OMIM:180860 |
Silver-Russell Syndrome |
|
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Short stature,... |
ORPHA:813 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Propionic Acidemia |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Short stature, Hypoglycemia |
OMIM:606054 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma,... |
ORPHA:370 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Decreased circulating aldosterone level, Adrenocorticotropi... |
OMIM:231550 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Failure to thrive, Pancreatitis, Hepatomegaly |
OMIM:251000 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Jaundice |
OMIM:616483 |
Cog8-Cdg |
|
Hypoglycemia, Failure to thrive |
ORPHA:95428 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia, Failure to thrive, Splenomegaly |
OMIM:619046 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... |
ORPHA:79319 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Short stature, Hypothyroidism, Hypoglycemia, Intrauterine growth retardation |
OMIM:618005 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Prolonged neonatal jaundice, Dec... |
ORPHA:226307 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:616355 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Intrauterine growth retardation, ... |
ORPHA:769 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cachexia, Hepatic steatosis, Hepatomegaly |
ORPHA:42 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Small for gestational age, Neonatal death, Hypoglycemia, Neonatal hypoglycemia... |
OMIM:619055 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Cirrhosis, Failure to thrive, Jaundice |
OMIM:617049 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Rhizomelia, Large for gestational age |
OMIM:616638 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency |
ORPHA:251076 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... |
ORPHA:508 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... |
ORPHA:171876 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Short stature, Pancreatic fibrosis, Hep... |
OMIM:232220 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Triple A Syndrome |
|
Adrenal insufficiency, Anterior hypopituitarism, Short stature |
ORPHA:869 |
Glutaric Acidemia I |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
OMIM:231670 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Growth delay, Abnormal prolactin level, Decreased response to g... |
ORPHA:90695 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:600649 |
Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... |
ORPHA:91349 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism |
OMIM:145260 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Growth delay |
OMIM:214700 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Short stature, Hypergonadotropic hypogonadism, Hypo... |
OMIM:617053 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Hypoglycemia,... |
OMIM:614921 |
Seckel Syndrome 10 |
|
Glucose intolerance, Severe short stature, Elevated circulating luteinizing hormone level, Glycos... |
OMIM:617253 |
D-Glyceric Aciduria |
|
Hypoglycemia, Failure to thrive, Growth delay |
OMIM:220120 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... |
OMIM:240300 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Hypertriglyceridemia, Insulin-resi... |
ORPHA:79086 |
Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Hepatic f... |
OMIM:602579 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glycosuria, Neonatal death, Hypoglycemia, Hepatic periportal necrosis, Hepatic stea... |
OMIM:231680 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Growt... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Isolated Complex I Deficiency |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Diabetes mellitus, Intrauterine growth retardation |
ORPHA:2609 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... |
OMIM:203800 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:617710 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Growth delay, Short s... |
OMIM:218030 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Increased hepatic g... |
ORPHA:79259 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Neonatal hypoglycemia |
OMIM:212138 |
Wolman Disease |
|
Adrenal insufficiency, Growth delay, Adrenal calcification |
ORPHA:75233 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia |
OMIM:615751 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Large for gestational age |
OMIM:619075 |
X-Linked Adrenoleukodystrophy |
|
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology |
ORPHA:43 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Short stature, Hy... |
OMIM:608779 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... |
OMIM:232240 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hypertriglyceridem... |
OMIM:151660 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis |
ORPHA:348 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Slender build |
OMIM:617600 |
Meningioma |
|
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... |
ORPHA:2495 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Failure to thrive, Severe intrauterine growth retardation, Precocious puberty, Decreased response... |
ORPHA:96182 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:246450 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... |
ORPHA:95699 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia, Precocious puberty |
OMIM:301032 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Microvesicular hepatic steatosis |
OMIM:611126 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Growth delay, Hyperlipidemia, Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin... |
OMIM:248370 |
Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland |
ORPHA:2047 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia |
ORPHA:391428 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Cholestasis, Small for gestational age |
OMIM:609015 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Primary adrenal insufficiency, Male hypogonadism |
ORPHA:139396 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoketotic hypoglycemia, Overweight, Increased circulat... |
ORPHA:26793 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Decreas... |
OMIM:146510 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Growth delay, Intrauteri... |
ORPHA:66634 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia, Cholangitis |
OMIM:124000 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Primary adrenal insufficiency, Short stature, Diabetes mellitus |
OMIM:530000 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Weight loss, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatic stea... |
OMIM:201475 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Growth delay, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:445038 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:210210 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism |
OMIM:614495 |
Craniopharyngioma |
|
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... |
ORPHA:54595 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Bile duct proliferation, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618329 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Diffuse hepatic steatosis, Failure to ... |
ORPHA:746 |
Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia, Short stature, Hepatomegaly, Prolonged neonatal jaundice |
OMIM:233600 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Short statu... |
OMIM:616007 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia, Obesity |
OMIM:608624 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level |
OMIM:203400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Thyroid carcinoma, Short stature, Cachexia, Neoplasm of the adrenal cortex, Hypoglycemia, Hashimo... |
ORPHA:109 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:619355 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Short stature |
ORPHA:44 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Short stature |
ORPHA:977 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Insulin re... |
OMIM:613327 |
Kabuki Syndrome 2 |
|
Decreased body weight, Short stature, Neonatal hypoglycemia, Postnatal growth retardation, Intrau... |
OMIM:300867 |
Tyrosinemia, Type I |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia,... |
OMIM:276700 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis |
ORPHA:26791 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Jaundice, Hepatic steatosis, Neonatal death |
OMIM:228100 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Growth delay, Decreased circulating aldosterone level, Increased circulati... |
ORPHA:427 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... |
ORPHA:300298 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly |
ORPHA:228305 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism |
ORPHA:369929 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Compensated hypothyroidism, Hypoglycemic seizures |
ORPHA:480864 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Growth delay, Abnormal prolactin level, Decreased response to g... |
ORPHA:95494 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis |
ORPHA:99901 |
Pseudohypoaldosteronism, Type Iic |
|
Pseudohypoaldosteronism |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism |
OMIM:614496 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia, Severe postnatal growth retardation, Short stature |
ORPHA:35173 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche, Hypoglycemia |
OMIM:616878 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:618114 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st... |
OMIM:608836 |
Prolactinoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... |
ORPHA:2965 |
Distal Monosomy 13Q |
|
Primary adrenal insufficiency, Short stature |
ORPHA:1590 |
East Syndrome |
|
Hyperaldosteronism, Increased circulating renin level |
ORPHA:199343 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... |
ORPHA:98754 |
Deeah Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Decreased response to gro... |
OMIM:619004 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Insulin-resistan... |
OMIM:608594 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Hypog... |
ORPHA:88673 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... |
ORPHA:98793 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... |
OMIM:269200 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:159 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Neonatal hypoglycemia, Growth delay, Hepatic steatosis, Intrauterine growth retardation |
OMIM:616271 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... |
ORPHA:177904 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Intrauterine growth retardation |
ORPHA:565624 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Precocious puberty, Decreased circulating T4 concentration, Central adrenal insufficiency, Decrea... |
ORPHA:177901 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Grav... |
ORPHA:358 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatic calcification, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatomegaly |
ORPHA:157 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Glucose intolerance, Increased body weight, Prolonged neonatal jaundice |
OMIM:117550 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Growth delay, Episodic hyperhidrosis, Jaundice |
ORPHA:469 |
Bannayan-Riley-Ruvalcaba syndrome |
|
Hypoglycemia, Postnatal growth retardation, Hashimoto thyroiditis |
OMIM:153480 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Rec... |
ORPHA:20 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Gr... |
ORPHA:231226 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia |
ORPHA:457279 |
Leigh Syndrome |
|
Hypoglycemia, Failure to thrive, Growth delay, Intrauterine growth retardation |
ORPHA:506 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Growth delay |
ORPHA:261476 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Hypogonadism, Diabetes mellitus |
ORPHA:231222 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Precocious puberty, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Hypoglycemia... |
OMIM:301066 |
Prader-Willi-Like Syndrome |
|
Abnormality of the endocrine system, Precocious puberty, Decreased circulating T4 concentration, ... |
ORPHA:398073 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hyperaldosteronism, Increased circulating renin level, Short stature |
OMIM:612780 |
Alg12-Cdg |
|
Failure to thrive, Hypocholesterolemia, Recurrent hypoglycemia, Intrauterine growth retardation, ... |
ORPHA:79324 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:231632 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Growth delay, Hyperglycemia |
ORPHA:3008 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hyperaldosteronism |
OMIM:613090 |
Shigellosis |
|
Splenic abscess, Peritonitis, Cholestasis, Hypoglycemia, Failure to thrive in infancy |
ORPHA:810 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Abdominal obesity, Precocious puberty, Type II diabetes mellitus, Hyperins... |
OMIM:176270 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased ser... |
OMIM:269700 |
Myasthenia Gravis |
|
Hyperthyroidism, Glycosuria, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto ... |
ORPHA:589 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Intrauterine growth retardation, Small for gestational age, Sho... |
OMIM:613658 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Gr... |
ORPHA:231214 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hyperlipidemia, Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Hepatic steatosis |
ORPHA:228308 |
Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency |
OMIM:202370 |
Prader-Willi Syndrome |
|
Precocious puberty, Central adrenal insufficiency, Small pituitary gland, Decreased response to g... |
ORPHA:739 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:177200 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level |
OMIM:607364 |
Tsh-Secreting Pituitary Adenoma |
|
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... |
ORPHA:91347 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hepatomegaly, Cirrhosis, Glycosuria, Hypoglycemia, Hepatic steatosis, Jaundice |
OMIM:229600 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Intrauterine growth retardation, Hypoglycemia, Growth delay, Jaundice |
ORPHA:79282 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Growth delay, Hepatic steatosis, Hyperhidrosis |
ORPHA:17 |
Andersen-Tawil Syndrome |
|
Growth delay, Hyperaldosteronism, Short stature |
ORPHA:37553 |
Holoprosencephaly |
|
Panhypopituitarism, Abnormality of the spleen, Anterior hypopituitarism, Hypoglycemia, Diabetes m... |
ORPHA:2162 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
Cholera |
|
Hypoglycemia |
ORPHA:173 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Intrauterine growth retardation |
ORPHA:572798 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Growth delay, Weight loss, Glycosuria |
ORPHA:3337 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hypoglycemia, Growth delay |
OMIM:252010 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hyperaldosteronism |
OMIM:602522 |
Poems Syndrome |
|
Abnormality of the endocrine system, Increased circulating prolactin concentration, Hypothyroidis... |
ORPHA:2905 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Failure to thrive, Severe failure to thrive, Small for gest... |
ORPHA:89938 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Failure to thrive, Small for gestational age, Short stature... |
OMIM:601678 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Sp... |
ORPHA:116 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... |
ORPHA:96180 |
Histiocytoid Cardiomyopathy |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:137675 |
Atypical Werner Syndrome |
|
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Short stat... |
ORPHA:79474 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Adrenal calcification |
OMIM:278000 |
46,Xy Partial Gonadal Dysgenesis |
|
Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... |
ORPHA:251510 |
Menkes Disease |
|
Hypoglycemia, Intrauterine growth retardation, Prolonged neonatal jaundice |
ORPHA:565 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Hypogonadism |
OMIM:300100 |
Adrenomyeloneuropathy |
|
Adrenal insufficiency, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenoc... |
ORPHA:139399 |
Acute Liver Failure |
|
Adrenal insufficiency, Hepatocellular necrosis, Hypoglycemia, Hepatitis, Hepatic periportal necro... |
ORPHA:90062 |
Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Growth delay, Decre... |
ORPHA:699 |
Holoprosencephaly 1 |
|
Hypoglycemia, Adrenal hypoplasia, Short stature, Diabetes insipidus |
OMIM:236100 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hepatoblastoma, Splenomegaly, Hypoglycemia, Pancreatic islet-cell hyperplasia, Poly... |
ORPHA:373 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Failure to thrive, Small for gestational age, Short stature... |
OMIM:241200 |
Carney Triad |
|
Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity |
ORPHA:139411 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Adrenocortical cytomegaly, Neonatal hypogly... |
OMIM:130650 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Decreased HDL... |
ORPHA:14 |
Zellweger Syndrome |
|
Primary adrenal insufficiency, Short stature |
ORPHA:912 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Hypoalbuminemia, Steatorrhea |
OMIM:212065 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Growth delay, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, C... |
ORPHA:99226 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia, Slender build, Large for gestational age |
ORPHA:457359 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hepatic calcification, Hyperaldosteronism |
ORPHA:73224 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Failure to thrive, Short stature, Delayed pu... |
ORPHA:534 |
Costello Syndrome |
|
Hypoglycemia, Failure to thrive, Short stature |
OMIM:218040 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Adrenal insufficiency, Hypohidrosis |
OMIM:615510 |
African Trypanosomiasis |
|
Abnormality of the endocrine system, Abnormal prolactin level, Abnormality of renin-angiotensin s... |
ORPHA:3385 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Hypocholesterolemia, Secondary hyperaldosteronism |
ORPHA:90363 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Orchitis, Pancreatitis, Jaundice |
ORPHA:99826 |
Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Central adrenal insufficie... |
ORPHA:488632 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Dubowitz Syndrome |
|