Mandibuloacral Dysplasia |
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Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Letharg... |
ORPHA:71212 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... |
ORPHA:71529 |
Transient Neonatal Diabetes Mellitus |
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Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Plin1-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Lipodystrophy, Familial Partial, Type 3 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Mody |
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Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Congenital Generalized Lipodystrophy |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal... |
ORPHA:528 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinem... |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 2 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
D-Glyceric Aciduria |
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Hyperglycinemia, Hyperglycinuria, Nonketotic hyperglycinemia, Increased circulating free fatty ac... |
ORPHA:941 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Diabetes mellitus, Dorsocervical fat pad, Short stature, Delayed thelarche, Delayed puberty, Hype... |
OMIM:616033 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... |
ORPHA:79086 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... |
ORPHA:276608 |
Donohue Syndrome |
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Precocious puberty, Adipose tissue loss, Postnatal growth retardation, Long penis, Hyperinsulinem... |
OMIM:246200 |
Solitary Fibrous Tumor |
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Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:608594 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:269700 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Polyendocrine-Polyneuropathy Syndrome |
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Hypoglycemia, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal gro... |
ORPHA:453533 |
Galactokinase Deficiency |
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Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... |
ORPHA:79237 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Insulinoma |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Body Mass Index Quantitative Trait Locus 19 |
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Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Perlman Syndrome |
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Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Abnormal pancreas morphology,... |
ORPHA:2849 |
Retinitis Pigmentosa |
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Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... |
ORPHA:79644 |
Obesity And Hypopigmentation |
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Polyphagia, Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
Obesity Due To Congenital Leptin Deficiency |
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Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellit... |
ORPHA:3085 |
Insulin-Resistance Syndrome Type B |
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Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbumine... |
OMIM:602579 |
Insulinomatosis And Diabetes Mellitus |
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Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Mpi-Cdg |
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Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H... |
ORPHA:79319 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Postnatal growth retardation, Insulin resistan... |
ORPHA:508 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Obesity Due To Sim1 Deficiency |
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Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di... |
ORPHA:369873 |
Alstrom Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
Rabson-Mendenhall Syndrome |
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Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Hypothyroidism, Short stature, ... |
ORPHA:769 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Lipodystrophy, Familial Partial, Type 7 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Small for gestational age, Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Bangstad Syndrome |
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Ataxia, Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulat... |
ORPHA:1227 |
Body Mass Index Quantitative Trait Locus 20 |
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Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Tenorio Syndrome |
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Enuresis, Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
X-Linked Acrogigantism |
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Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
Atypical Werner Syndrome |
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Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Short stature, Abnormal circulating leptin ... |
ORPHA:79474 |
Familial Renal Glucosuria |
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Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Moderate... |
ORPHA:69076 |
Prader-Willi Syndrome |
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Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... |
OMIM:176270 |
Liver Disease, Severe Congenital |
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Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... |
OMIM:619991 |
Estrogen Resistance |
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Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Woodhouse-Sakati Syndrome |
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Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... |
ORPHA:3464 |
Turner Syndrome |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:881 |
Mosaic Monosomy X |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99228 |
Monosomy X |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99413 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Estrogen Resistance Syndrome |
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Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Splenomegaly, Hyperinsulinemia, Short stature |
ORPHA:66518 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Abnormality of ... |
ORPHA:273 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir... |
ORPHA:230 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Ataxia, Elevated circu... |
ORPHA:79318 |
Atelis Syndrome 2 |
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Attention deficit hyperactivity disorder, Elevated circulating thyroid-stimulating hormone concen... |
OMIM:620185 |