Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Plin1-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... |
ORPHA:71529 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Obesity Due To Prohormone Convertase I Deficiency |
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Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 3 |
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Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Hirsutism, Insulin-resistant dia... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Transient Neonatal Diabetes Mellitus |
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Maternal diabetes, Small for gestational age, Failure to thrive, Diabetic ketoacidosis, Hyperglyc... |
ORPHA:99886 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Congenital Generalized Lipodystrophy |
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Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... |
ORPHA:528 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
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Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Lipodystrophy, Familial Partial, Type 2 |
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Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hirs... |
OMIM:151660 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Insulinomatosis And Diabetes Mellitus |
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Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Mandibuloacral Dysplasia |
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Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Homozygous 11P15-P14 Deletion Syndrome |
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Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Donohue Syndrome |
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Fasting hypoglycemia, Hypertrichosis, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Pancr... |
OMIM:246200 |
Hypoglycemia, Leucine-Induced |
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Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Small for gestational age, Insulin-resistant ... |
OMIM:262190 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Generalized ... |
ORPHA:79086 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Galactokinase Deficiency |
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Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, H... |
ORPHA:79237 |
Mody |
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Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypog... |
ORPHA:552 |
Retinitis Pigmentosa |
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Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia |
ORPHA:791 |
Insulinoma |
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Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... |
OMIM:248370 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Perlman Syndrome |
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Hepatomegaly, Inguinal hernia, Abnormal pancreas morphology, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Obesity Due To Congenital Leptin Deficiency |
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Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hepatomegaly, Hirsutism, Insulin resistance, Failure to thrive, Lipodystrophy, Splenomegaly, Hepa... |
OMIM:613327 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia |
ORPHA:3085 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic ad... |
OMIM:608594 |
Insulin-Resistance Syndrome Type B |
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Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Abnormality of body weight, ... |
ORPHA:2298 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Obesity, Hyperinsulinemia |
ORPHA:329249 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic ad... |
OMIM:269700 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... |
OMIM:602579 |
Obesity Due To Sim1 Deficiency |
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Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
Body Mass Index Quantitative Trait Locus 20 |
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Obesity, Hyperinsulinemia |
OMIM:618406 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Mpi-Cdg |
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Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... |
ORPHA:79319 |
Multiple Endocrine Neoplasia Type 4 |
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Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Alstrom Syndrome |
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Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... |
OMIM:203800 |
Bdv Syndrome |
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Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Inc... |
ORPHA:71212 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Bangstad Syndrome |
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Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Estrogen Resistance |
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Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Leprechaunism |
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Hepatomegaly, Central hypothyroidism, Fasting hypoglycemia, Hypertrichosis, Insulin resistance, F... |
ORPHA:508 |
Rabson-Mendenhall Syndrome |
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Increased serum testosterone level, Fasting hypoglycemia, Hypertrichosis, Hirsutism, Low anterior... |
ORPHA:769 |
Short Stature, Dauber-Argente Type |
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Fasting hyperinsulinemia |
OMIM:619489 |
Estrogen Resistance Syndrome |
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Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Atypical Werner Syndrome |
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Abnormal hair morphology, Insulin-resistant diabetes mellitus, White forelock, Fasting hyperinsul... |
ORPHA:79474 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
X-Linked Acrogigantism |
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Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Prader-Willi Syndrome |
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Failure to thrive in infancy, Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic ... |
OMIM:176270 |
Woodhouse-Sakati Syndrome |
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Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Decreased response to growth h... |
ORPHA:3464 |
Tenorio Syndrome |
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Thick eyebrow, Hypoglycemia, Hypoinsulinemia, Hypertrichosis |
OMIM:616260 |
Turner Syndrome |
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Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:881 |
Monosomy X |
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Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:99226 |
Mosaic Monosomy X |
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Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:99228 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:99413 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Steinert Myotonic Dystrophy |
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Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Early balding, Alopecia,... |
ORPHA:273 |
Alström Syndrome |
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Hirsutism, Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating horm... |
ORPHA:64 |
Pmm2-Cdg |
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Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Insulin resistance, Hypogonad... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia, Nail dystrophy, Peritonitis |
ORPHA:2968 |