Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
OMIM:167755 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance |
OMIM:311100 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:324575 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Preaxial Hallucal Polydactyly |
|
Diabetes mellitus |
OMIM:601759 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Cranial Nerves, Recurrent Paresis Of |
|
Diabetes mellitus |
OMIM:218200 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71526 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Abnormal cir... |
ORPHA:280356 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia |
OMIM:306000 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism, Hypoglycemia |
OMIM:616113 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Hepatocellular adenoma |
OMIM:142330 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... |
OMIM:262600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content |
OMIM:232700 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Cirrhosis, Hepatic steatos... |
OMIM:604367 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... |
OMIM:201400 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia |
ORPHA:446 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis |
OMIM:617872 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... |
ORPHA:181393 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia |
ORPHA:2849 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... |
OMIM:246200 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... |
ORPHA:2298 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperinsulinemia |
ORPHA:363400 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Hypergonadotropic hypogonadism, Hyperinsulinemia |
ORPHA:79237 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic fibrosis |
OMIM:602579 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism, Portal hypertension |
ORPHA:79319 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insuf... |
ORPHA:199296 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... |
OMIM:606069 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Jaundice |
OMIM:617156 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Cirrhosis, Hepatic steatosis, Di... |
ORPHA:528 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:202200 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hypoglycemia, Hepatic fibrosis, Cirrhosis, Cholestasis, Prolonged neonat... |
OMIM:231100 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Cirrhosis, Hepatic steatos... |
ORPHA:79086 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:608612 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... |
ORPHA:95619 |
Mandibuloacral Dysplasia |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Insulin resistance |
ORPHA:2457 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia,... |
ORPHA:71212 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... |
OMIM:203800 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... |
ORPHA:769 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level |
OMIM:600955 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:248370 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hepatic steatosis, Acute pancre... |
OMIM:151660 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... |
ORPHA:95496 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypoglycemia, Diabetes mellitus, Glycosuria |
OMIM:616026 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261680 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hyperinsulinemia |
OMIM:613327 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Hypoglycemia, Increased circulating cortisol level, Insulinoma, Thyroid a... |
OMIM:131100 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased serum estradiol, Hy... |
ORPHA:3464 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Jaundice |
OMIM:616483 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... |
OMIM:608594 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Delayed puberty,... |
OMIM:176270 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypoi... |
ORPHA:2126 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Insulin resistance, Recurrent infanti... |
ORPHA:508 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... |
OMIM:269700 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia |
OMIM:615751 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... |
ORPHA:786 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin system, Jaundice, Abnormal circu... |
ORPHA:90790 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... |
ORPHA:79474 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... |
ORPHA:273 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Type II diabetes mellitus, Hepatic fibrosis, Glucose intolerance, High urinary gonadotropin level... |
ORPHA:99413 |
Turner Syndrome |
|
Type II diabetes mellitus, Hepatic fibrosis, Glucose intolerance, High urinary gonadotropin level... |
ORPHA:881 |
Mosaic Monosomy X |
|
Type II diabetes mellitus, Hepatic fibrosis, Glucose intolerance, High urinary gonadotropin level... |
ORPHA:99228 |
Monosomy X |
|
Type II diabetes mellitus, Hepatic fibrosis, Glucose intolerance, High urinary gonadotropin level... |
ORPHA:99226 |
Non-Acquired Panhypopituitarism |
|
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... |
ORPHA:90695 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Hypoglycemia, Jaundice |
OMIM:228100 |
Alström Syndrome |
|
Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration, Primary ... |
ORPHA:64 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Peritonitis |
ORPHA:2968 |
Pmm2-Cdg |
|
Hepatic fibrosis, Insulin resistance, Hypogonadotropic hypogonadism, Abnormal liver parenchyma mo... |
ORPHA:79318 |