| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... |
ORPHA:35878 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Irritability |
OMIM:240800 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia |
ORPHA:71529 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia |
OMIM:618406 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertr... |
OMIM:617885 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276575 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia |
OMIM:620195 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... |
ORPHA:276556 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Abnormal ... |
ORPHA:280356 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Pancreatic isle... |
ORPHA:263455 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hyperactivity, Hypertriglyceridemia |
ORPHA:363400 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Abnormal ci... |
ORPHA:2298 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, Hy... |
ORPHA:79237 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Fasti... |
ORPHA:71212 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert... |
ORPHA:528 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... |
ORPHA:2457 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
| Donohue Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant... |
ORPHA:769 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hypertr... |
OMIM:613327 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... |
OMIM:608612 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... |
ORPHA:556037 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... |
OMIM:177735 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79086 |
| Prader-Willi Syndrome |
|
Self-injurious behavior, Precocious puberty, Decreased response to growth hormone stimulation tes... |
OMIM:176270 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... |
OMIM:151660 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Decreased response ... |
OMIM:203800 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... |
ORPHA:100924 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... |
OMIM:248370 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Hypertriglycerid... |
OMIM:269700 |
| Atelis Syndrome 2 |
|
Attention deficit hyperactivity disorder, Elevated circulating thyroid-stimulating hormone concen... |
OMIM:620185 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Diabetes mellitus, In... |
OMIM:608594 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Glucose into... |
OMIM:219090 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Male hypogonadism, Depression, Oral-pharyngeal dysphagia, Decreased response ... |
ORPHA:273 |
| Atypical Werner Syndrome |
|
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... |
ORPHA:79474 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... |
ORPHA:99413 |
| Turner Syndrome |
|
Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... |
ORPHA:99228 |
| Monosomy X |
|
Depression, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... |
ORPHA:99226 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, I... |
OMIM:619991 |
| Semilobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93924 |
| Alström Syndrome |
|
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... |
ORPHA:64 |
| Pmm2-Cdg |
|
Insulin resistance, Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:79318 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Umbilical hernia |
ORPHA:798 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
