Transient Neonatal Diabetes Mellitus |
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Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
Mody |
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Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
Akt2-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Proprotein Convertase 1/3 Deficiency |
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Diarrhea, Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decrease... |
OMIM:600955 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
Lipodystrophy, Familial Partial, Type 5 |
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Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
Lipe-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Cidec-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
Plin1-Related Familial Partial Lipodystrophy |
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Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Glycogen Storage Disease Vi |
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Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Familial Partial Lipodystrophy, Köbberling Type |
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Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Lipoatrophy,... |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 1 |
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Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71526 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
Homozygous 11P15-P14 Deletion Syndrome |
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Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Body Mass Index Quantitative Trait Locus 19 |
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Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
Lipase Deficiency, Combined |
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Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Insulinomatosis And Diabetes Mellitus |
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Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia |
OMIM:610947 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Solitary Fibrous Tumor |
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Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Constipation, Abnormal ... |
ORPHA:2126 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hypertriglyceridemia 1 |
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Hypopituitarism, Glucose intolerance, Hypertriglyceridemia |
OMIM:145750 |
Hemochromatosis, Type 4 |
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Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... |
OMIM:606069 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... |
ORPHA:2298 |
Lipodystrophy, Familial Partial, Type 2 |
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Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
Obesity Due To Sim1 Deficiency |
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Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Mandibuloacral Dysplasia |
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Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
Tenorio Syndrome |
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Hypoinsulinemia, Recurrent aphthous stomatitis, Gastroesophageal reflux, Hypoglycemia |
OMIM:616260 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hy... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Type... |
OMIM:269700 |
Leptin Deficiency Or Dysfunction |
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Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Estrogen Resistance |
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Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Increased circulating osteocalc... |
OMIM:615363 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... |
ORPHA:189427 |
Pancreatic Agenesis 2 |
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Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f... |
OMIM:615935 |
Seckel Syndrome 10 |
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Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... |
OMIM:617253 |
Lipodystrophy, Familial Partial, Type 7 |
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Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Decreased ad... |
OMIM:606721 |
Atypical Werner Syndrome |
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Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... |
ORPHA:79474 |
Keppen-Lubinsky Syndrome |
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Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
Nestor-Guillermo Progeria Syndrome |
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Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin |
OMIM:614008 |
Rett Syndrome |
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Increased serum leptin, Failure to thrive, Cholecystitis |
ORPHA:778 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... |
ORPHA:740 |