Maturity-Onset Diabetes Of The Young, Type 13 |
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Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 2 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
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Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
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Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
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Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 2 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 6 |
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Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
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Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Pancreas, Dorsal, Agenesis Of |
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Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
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Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Maturity-Onset Diabetes Of The Young, Type 1 |
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Maturity-onset diabetes of the young |
OMIM:125850 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
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Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hyperinsulinism Due To Insr Deficiency |
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Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
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Insulin resistance |
OMIM:200170 |
Acid-Labile Subunit Deficiency |
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Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty |
OMIM:615961 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Multiple Symmetric Lipomatosis |
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Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
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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Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
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Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
RCAD (renal cysts and diabetes) |
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Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Cortisone Reductase Deficiency 2 |
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Insulin resistance, Premature pubarche |
OMIM:614662 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Glycogen Storage Disease Vi |
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Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Short Stature Due To Partial Ghr Deficiency |
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Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Morbid Obesity And Spermatogenic Failure |
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Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Hepati... |
OMIM:615703 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Abnormal oral glucose tolerance |
OMIM:311100 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Hypogonadism, ... |
ORPHA:181393 |
Transient Neonatal Diabetes Mellitus |
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Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly |
OMIM:609016 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance |
OMIM:617885 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Glucocorticoid Deficiency 3 |
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Recurrent hypoglycemia |
OMIM:609197 |
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 10 |
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Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin ... |
OMIM:612526 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... |
ORPHA:171706 |
Lipodystrophy, Familial Partial, Type 4 |
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Insulin resistance, Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Short Stature Due To Ghsr Deficiency |
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Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
Akt2-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... |
ORPHA:79085 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
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Hypoglycemia |
OMIM:223500 |
Glycine N-Methyltransferase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Fructose And Galactose Intolerance |
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Hypoglycemia |
OMIM:229500 |
Acquired Partial Lipodystrophy |
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Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Pituitary Hormone Deficiency, Combined, 4 |
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Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
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Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Lipodystrophy, Familial Partial, Type 3 |
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Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, ... |
OMIM:604367 |
Preaxial Hallucal Polydactyly |
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Diabetes mellitus |
OMIM:601759 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Neonatal hypoglycemia |
OMIM:240900 |
Mody |
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Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Cranial Nerves, Recurrent Paresis Of |
|
Diabetes mellitus |
OMIM:218200 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... |
OMIM:617156 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Diabetes mellitus |
OMIM:615980 |
Glucose-Galactose Malabsorption |
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Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hypogonadism, Diabetes mellitu... |
OMIM:615381 |
Hepatic Adenomas, Familial |
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Maturity-onset diabetes of the young, Hepatocellular adenoma |
OMIM:142330 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypoglycemia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... |
OMIM:617872 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... |
ORPHA:435660 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Plin1-Related Familial Partial Lipodystrophy |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... |
ORPHA:280356 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Blue Diaper Syndrome |
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Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Inc... |
ORPHA:94086 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Glycogen Storage Disease Ixa1 |
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Hepatomegaly, Splenomegaly, Hypoglycemia, Elevated hepatic transaminase, Hypertriglyceridemia, Hy... |
OMIM:306000 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... |
OMIM:618549 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... |
ORPHA:363400 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Elevated hepatic transaminase, Splenomegaly |
ORPHA:75563 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circula... |
OMIM:617253 |
Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis, Hypercalcemia |
OMIM:240150 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Propionic Acidemia |
|
Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly |
ORPHA:35 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia |
OMIM:304800 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... |
OMIM:610600 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Multiple Myeloma |
|
Hyperproteinemia, Weight loss, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hepatic failure, Splenomegaly |
ORPHA:664 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hyp... |
ORPHA:3008 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, D... |
ORPHA:528 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase |
OMIM:246900 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis,... |
OMIM:231100 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Acth Deficiency, Isolated |
|
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... |
OMIM:201400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia |
OMIM:214700 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, Ins... |
ORPHA:79083 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Trypsinogen Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:614044 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Hyperlipidemia, Splenomegaly, Cirrhosis, Insulin resista... |
ORPHA:90970 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hypocalcemia, Long eyelashes |
ORPHA:163693 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556037 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:617950 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Rhabdoid Tumor |
|
Weight loss, Hypercalcemia |
ORPHA:69077 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Hypertriglyceridemia, Insulin-resi... |
ORPHA:79086 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556030 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated circulating alanine aminotransferase concen... |
OMIM:261680 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... |
ORPHA:2457 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic fibrosis |
OMIM:232400 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... |
ORPHA:2298 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resist... |
ORPHA:2348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, Elevat... |
OMIM:619048 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Hypernatremia |
OMIM:615508 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia |
OMIM:177735 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... |
ORPHA:2126 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
Wolfram-Like Syndrome |
|
Glucose intolerance, Hypothyroidism, Male hypogonadism, Primary gonadal insufficiency, Central di... |
ORPHA:411590 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... |
ORPHA:2089 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Hyponatremia |
ORPHA:178029 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Elevated hepatic transaminase, Jaundice, Acute hepatic failure |
OMIM:616483 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Anomalous splenoportal venous system |
OMIM:271500 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Infantile hypercalcemia |
OMIM:143880 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia |
OMIM:618426 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased carnitine level in liver, Im... |
OMIM:212140 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:615883 |
Oculocerebrodental Syndrome |
|
Enamel hypoplasia, Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Chondrocalcinosis, Hypercalcemia |
ORPHA:99879 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:613090 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Prolo... |
ORPHA:199296 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Low anterior hairline, Small for gestational age, Elbow flexion contracture, Hyperc... |
OMIM:618440 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Elevated circulating alkaline phos... |
ORPHA:263455 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Sparse axillary hair, Decreased circulating cortisol level, Increased circulat... |
ORPHA:95409 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia |
ORPHA:364 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... |
ORPHA:171876 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Small for gestational age, Hyperammonemia, Hypoketotic hypoglycemi... |
ORPHA:26793 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:398063 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Infantile Myofibromatosis |
|
Chondrocalcinosis, Abnormal hair morphology, Hypercalcemia |
ORPHA:2591 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hypergonadotropic hypogonadism... |
ORPHA:79237 |
Non-Functioning Paraganglioma |
|
Weight loss, Hypercalcemia |
ORPHA:94080 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans... |
ORPHA:79230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Decreased liver function, Elevated hepatic transaminase |
OMIM:615160 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:614741 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:619386 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Type I diabetes mellitus, ... |
ORPHA:199299 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Hypertriglyceridemia, Insulin... |
ORPHA:435651 |
Mpi-Cdg |
|
Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal enzyme/coenzyme a... |
ORPHA:79319 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Abnormal hair morphology |
OMIM:152800 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Hyponatremia, Hyperuricemia, Diabetes mellitus |
OMIM:613845 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... |
OMIM:600649 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Hypoproteinemia |
ORPHA:1116 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Hypogonadism, Insulin resistance |
ORPHA:73272 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia |
ORPHA:172 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Hereditary Coproporphyria |
|
Extension of hair growth on temples to lateral eyebrow, Facial hirsutism, Abnormal circulating po... |
ORPHA:79273 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal response to ACTH... |
OMIM:202200 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:602522 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Thymic Neuroendocrine Tumor |
|
Weight loss, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoketotic hypoglyce... |
OMIM:231530 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia... |
OMIM:613327 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia, Alopecia |
OMIM:603554 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration... |
ORPHA:2088 |
Addison Disease |
|
Failure to thrive, Sparse axillary hair, Decreased circulating cortisol level, Increased circulat... |
ORPHA:85138 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated he... |
OMIM:616860 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure, Cirrhosis, Macrovesicular ... |
OMIM:256810 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Hypogl... |
OMIM:617049 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... |
ORPHA:247585 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:618958 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Bartter Syndrome, Type 1, Antenatal |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... |
OMIM:601678 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... |
OMIM:603553 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Hereditary Chronic Pancreatitis |
|
Abnormal enzyme/coenzyme activity, Recurrent pancreatitis, Diabetes mellitus, Pancreatic calcific... |
ORPHA:676 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Elevated hepatic transaminase |
ORPHA:289504 |
Bangstad Syndrome |
|
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
OMIM:210740 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance |
OMIM:309620 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizu... |
ORPHA:361 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Hypoproteinemia, Alopecia, Abnormal hair pattern, Diabetes mellitus |
ORPHA:2315 |
Bartter Syndrome Type 4 |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... |
ORPHA:89938 |
Alg8-Cdg |
|
Failure to thrive, Small for gestational age, Camptodactyly, Abnormality of subcutaneous fat tiss... |
ORPHA:79325 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Splenomegaly,... |
OMIM:613812 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hirsutism, Decreased circulating cortisol level, Increased circulating renin l... |
ORPHA:90791 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Alopecia, Decreased circulating cortisol level, Alopecia totalis, Hyponatremia... |
ORPHA:293978 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Alopecia |
ORPHA:100025 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Ménétrier Disease |
|
Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Failure to thrive, Hypocalcemia, Long eyelashes |
OMIM:606407 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:90362 |
Growth Factors, Combined Defect Of |
|
Insulin-resistant diabetes mellitus |
OMIM:233805 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Flexion contracture, Elevated circulating creatine kinase concentration, Hyponatremi... |
ORPHA:682 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity, Horizontal eyebrow, Infantile hypercalcemia |
ORPHA:96168 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased serum leptin, Hypertriglyceridemia, Diabetes ... |
ORPHA:280365 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... |
OMIM:251880 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Small for gestational age |
ORPHA:391673 |
Hemochromatosis, Type 1 |
|
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic ... |
OMIM:235200 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia |
OMIM:614702 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure |
ORPHA:2394 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia, ... |
OMIM:255120 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Wolcott-Rallison Syndrome |
|
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Neonatal insulin-dependent diabetes me... |
ORPHA:1667 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Failure to thrive, Hyponatremia |
OMIM:300200 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Aromatase Deficiency |
|
Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Insulin resistance, He... |
ORPHA:91 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Insulin-resistant diabetes mellitus |
OMIM:268020 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Knee flexion contracture, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Hypoglycemia, Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Synophrys, Hypercalcemia |
ORPHA:476126 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Alopecia, Abnormal blood ion concent... |
ORPHA:31824 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Inguinal hernia |
OMIM:235255 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hyperinsulinemic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic fai... |
ORPHA:71212 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Delayed puberty |
ORPHA:90154 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Hepatocellular Carcinoma |
|
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... |
ORPHA:88673 |
Vipoma |
|
Hypokalemia, Increased circulating cortisol level, Hypercalcemia, Diabetes mellitus, Subcutaneous... |
ORPHA:97282 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Infantile hype... |
ORPHA:405 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Nail dystrophy |
OMIM:175500 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Adrenocortical hypoplasia, Adrenal insufficiency |
OMIM:307030 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level |
OMIM:600955 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Hypercalcemia |
ORPHA:276621 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Cholestasis, Hepatic fibrosis, ... |
OMIM:246200 |
Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Whipple Disease |
|
Insulin resistance, Hepatomegaly, Hypothyroidism, Splenomegaly |
ORPHA:3452 |
Zollinger-Ellison Syndrome |
|
Lipoma, Increased circulating cortisol level, Multiple lipomas, Hypercalcemia, Increased glucagon... |
ORPHA:913 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia, Precocious puberty, Premature adrenarche |
ORPHA:813 |
Somatostatinoma |
|
Increased circulating cortisol level, Steatorrhea, Hypercalcemia, Diabetes mellitus, Subcutaneous... |
ORPHA:97283 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cirrhosis, Hepatic fib... |
OMIM:602579 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... |
OMIM:241200 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Glucose intolerance, Elevated hepatic transaminase, Abnormality of the liver, Impaired glucose to... |
OMIM:610131 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Hyponatremia |
ORPHA:83601 |
Congenital Disorder Of Glycosylation, Type Ij |
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Flexion contracture, Hypoproteinemia |
OMIM:608093 |
X-Linked Agammaglobulinemia |
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Failure to thrive, Hypocalcemia, Cellulitis, Alopecia, Weight loss |
ORPHA:47 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Hypoglycemia, Decreased liver function, Decreased circulating cortisol level |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Hypoglycemia, Decreased liver function, Decreased circulating cortisol level |
OMIM:618839 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease, Hepatomegaly |
ORPHA:5 |
Classic Galactosemia |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Abnormal erythrocyte enzyme lev... |
ORPHA:79239 |
Mirage Syndrome |
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Hypoglycemia, Decreased body weight, Hyperkalemia, Hyponatremia |
OMIM:617053 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
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Hypoglycemia |
OMIM:618253 |
Timothy Syndrome |
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Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Alg12-Cdg |
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Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... |
ORPHA:79324 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Splenomegaly,... |
OMIM:235555 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Ring Chromosome 10 Syndrome |
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Cachexia, Hypocalcemia |
ORPHA:1438 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Immunodeficiency 82 With Systemic Inflammation |
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Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia |
OMIM:619381 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Marbach-Rustad Progeroid Syndrome |
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Insulin resistance |
OMIM:619322 |
Herpes Simplex Virus Encephalitis |
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Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Failure to thrive, Nail dystrophy, Elevated circulating creatine kinase concentration, Hypoprotei... |
OMIM:615895 |
Glucagonoma |
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Increased circulating cortisol level, Steatorrhea, Hypercalcemia, Diabetes mellitus, Subcutaneous... |
ORPHA:97280 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Failure to thrive, Hirsutism, Decreased circulating cortisol level, Frontal balding, Hyperkalemia... |
ORPHA:90794 |
Laron Syndrome |
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Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia |
ORPHA:633 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia |
OMIM:619155 |
Pituitary Stalk Interruption Syndrome |
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Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... |
ORPHA:95496 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Decreased liver function, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic stea... |
ORPHA:42 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Cog8-Cdg |
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Hypoglycemia, Elevated hepatic transaminase |
ORPHA:95428 |
Histidinuria-Renal Tubular Defect Syndrome |
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Hypoglycemia |
ORPHA:2158 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypertrichosis, Hypocalcemia, Hypoproteinemia, Inguinal hernia |
ORPHA:1655 |
Juvenile Nephropathic Cystinosis |
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Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, ... |
ORPHA:411634 |
Parathyroid Carcinoma |
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Hypophosphatemia, Lipoma, Chondrocalcinosis, Hypercalcemia, Infantile hypercalcemia, Weight loss |
ORPHA:143 |
Sheehan Syndrome |
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Sparse axillary hair, Decreased circulating cortisol level, Sparse pubic hair, Hypoglycemia, Brea... |
ORPHA:91355 |
Glycogen Storage Disease Ixd |
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Hypoglycemia |
OMIM:300559 |
Hartsfield Syndrome |
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Hypernatremia |
OMIM:615465 |
Ppoma |
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Subcutaneous lipoma, Weight loss, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
Snakebite Envenomation |
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Hyponatremia |
ORPHA:449285 |
Paget Disease Of Bone 2, Early-Onset |
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Hypercalcemia |
OMIM:602080 |
Lipodystrophy, Familial Partial, Type 2 |
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Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Hypertriglyceridem... |
OMIM:151660 |
Leptospirosis |
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Hyperproteinemia |
ORPHA:509 |
Porphyria Variegata |
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Abnormal circulating porphyrin concentration, Scarring, Hypertrichosis, Hyponatremia |
ORPHA:79473 |
Biliary Atresia, Extrahepatic |
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Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Alstrom Syndrome |
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Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... |
OMIM:203800 |
Werner Syndrome |
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Insulin resistance, Type II diabetes mellitus, Thyroid carcinoma, Hypogonadism |
ORPHA:902 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Abnormal erythrocyte en... |
ORPHA:264580 |
Dengue Fever |
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Hypoproteinemia |
ORPHA:99828 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis |
OMIM:212138 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Insulin resistance, Hypothyroidism, Diabetes mellitus |
OMIM:616541 |
Fibrous Dysplasia Of Bone |
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Hypophosphatemia, Diabetes mellitus, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Hereditary Pheochromocytoma-Paraganglioma |
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Weight loss, Hypercalcemia |
ORPHA:29072 |
Leprechaunism |
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Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Increased circula... |
ORPHA:508 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypertriglyceridemia, Obesity, Hypercalcemia |
ORPHA:369837 |
Bardet-Biedl Syndrome 1 |
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Nephrogenic diabetes insipidus, Biliary tract abnormality, Hepatic fibrosis, Hypogonadism, Insuli... |
OMIM:209900 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Fasting hyperinsulinemia, Hy... |
ORPHA:276152 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Alopecia, Hypophosphatemia, Abnormal adipose tissue morphology, Hypocalcemia |
ORPHA:93160 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Grfoma |
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Subcutaneous lipoma, Weight loss, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia, Hypoglycemia, Elevated he... |
ORPHA:348 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:608612 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Failure to thrive, Decreased circulating cortisol level, Increased circulating renin level, Abnor... |
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