| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... |
ORPHA:71526 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... |
ORPHA:324575 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... |
OMIM:617885 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia |
ORPHA:329249 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
| Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:620195 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... |
ORPHA:171706 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Polyphagia, Micropenis, Decreased serum leptin |
OMIM:614962 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... |
OMIM:615703 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... |
OMIM:608600 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Loss of gluteal subc... |
ORPHA:280356 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... |
OMIM:614662 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... |
OMIM:615980 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... |
OMIM:614963 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity, Abnormality of the kidney |
OMIM:615988 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... |
OMIM:222100 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
| Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Hypervalin... |
OMIM:620085 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Lip... |
OMIM:613877 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Renal cyst, Obesity, Renal insufficiency |
OMIM:615987 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Lipoatrophy |
ORPHA:79084 |
| Mody |
|
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... |
ORPHA:552 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... |
OMIM:606528 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficiency, Hyperbilir... |
OMIM:609734 |
| Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Decreased circulating carnit... |
ORPHA:71212 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrophic cardiomyopathy... |
ORPHA:528 |
| 14Q11.2 Microduplication Syndrome |
|
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior |
ORPHA:261229 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... |
ORPHA:35878 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cardiomyopathy, Umbilical hernia, Tall stature, Hyperinsulinemia, Decreased serum leptin, Reduced... |
OMIM:608594 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-pepti... |
OMIM:615238 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Tall stature, Hyperinsulinemia, Decreased serum le... |
OMIM:269700 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity |
OMIM:615986 |
| Bardet-Biedl Syndrome 14 |
|
Obesity, Renal insufficiency |
OMIM:615991 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Renal hypoplasia, Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperact... |
OMIM:620439 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... |
ORPHA:435651 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hypophosphatem... |
ORPHA:263455 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy... |
OMIM:613670 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Micropenis, Obesity, Hypoplasia of penis, Hypogonadism |
ORPHA:85274 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... |
OMIM:275000 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoproteinemia, Hypoketotic... |
ORPHA:26793 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Obesity, Hypoalbuminemia |
ORPHA:88643 |
| Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... |
OMIM:616222 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Aggressive behavior, Obesity, Hyperactivity |
OMIM:620270 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Polyphagia, Delayed puberty, Increased b... |
ORPHA:251004 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-picking, Micropenis, Campto... |
OMIM:615547 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Proteinuria, Glomerulopathy, Microscopic hematuria, Lipoatrophy |
ORPHA:79087 |
| Bardet-Biedl Syndrome 5 |
|
Micropenis, Obesity, Hypogonadism |
OMIM:615983 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity |
ORPHA:411515 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... |
OMIM:151660 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Cystinuria, Failure to thrive, Nephrolithiasis |
ORPHA:163690 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal... |
OMIM:615993 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, H... |
OMIM:606407 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... |
ORPHA:79237 |
| Huntington Disease |
|
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... |
ORPHA:399 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Truncal obesity, Abnormality of the kidney, Micropenis |
ORPHA:75858 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity, Hypoplasia of penis |
ORPHA:3055 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity |
ORPHA:171829 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Overgrowth, Enlarge... |
OMIM:618272 |
| Perlman Syndrome |
|
Tall stature, Hyperinsulinemia, Inguinal hernia, Nephroblastoma, Hepatomegaly, Femoral hernia, Hy... |
ORPHA:2849 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Lipodystrophy, Loss of subcutaneous adipose tissue in limb... |
OMIM:615381 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
| Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Head-banging, Abnormal heart morphology, Abnormality of the th... |
OMIM:182290 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... |
OMIM:616033 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... |
OMIM:618620 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Pituitary adenoma, Increased circulating prolactin concentration, Hypopi... |
OMIM:300942 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Abnormal tricuspid valve morphology, Hyperlipidemia, Overgrowth, Lipodystroph... |
ORPHA:199276 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Hypertrophic cardiomyopathy, Splenomegaly, Glomerulopathy, Lipody... |
ORPHA:2348 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Hypogonadism, Obesity, Bicuspid aortic valve, Atrial septal defect, Diabe... |
OMIM:615981 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Mehmo Syndrome |
|
Obesity, Micropenis, Hypoplasia of penis, Diabetes mellitus, Agitation |
ORPHA:85282 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Inguinal hernia |
OMIM:300209 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Loss of fac... |
ORPHA:79083 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... |
OMIM:262190 |
| Joubert Syndrome 10 |
|
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight |
OMIM:300804 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... |
OMIM:300148 |
| Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, H... |
OMIM:605911 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Abnormal circulating lip... |
ORPHA:79086 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thy... |
ORPHA:94086 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity, Situs inversus totalis, Hypospadias, Renal dysplasia |
OMIM:615985 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Obesity, Partial atrioventricular canal d... |
OMIM:615996 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... |
OMIM:608612 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| 11P15.4 Microduplication Syndrome |
|
Aggressive behavior, Obesity |
ORPHA:300305 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, A... |
ORPHA:73272 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Renal cyst, Obesity, Abnormality of the kidney |
OMIM:615982 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:274300 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia, Splenomegaly, Elevated circulating creat... |
OMIM:613327 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98754 |
| Prader-Willi Syndrome |
|
Self-injurious behavior, Precocious puberty, Class III obesity, Decreased HDL cholesterol concent... |
OMIM:176270 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... |
OMIM:617610 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... |
OMIM:603233 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177901 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... |
ORPHA:398079 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| D-Glyceric Aciduria |
|
Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hypergl... |
ORPHA:941 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Fail... |
ORPHA:398069 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Failure to thrive, Increased circulating free f... |
OMIM:610768 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... |
ORPHA:2088 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Su... |
ORPHA:3191 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... |
OMIM:617575 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Failure to thrive, Graves disease, Goiter, Puberty and gonadal disorders, Splenomegal... |
ORPHA:525731 |
| Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
| Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Reduced subcutaneous adipose tissue, Ventricular septal defe... |
ORPHA:769 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Failure to thrive, Truncal obesity |
ORPHA:261483 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Elbow flexion contracture, Obesity, Increased LDL cholesterol concentrati... |
ORPHA:98855 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias |
ORPHA:141333 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Glucose intolerance, Ab... |
ORPHA:785 |
| Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... |
ORPHA:247585 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Renal insufficiency, Displacement of the urethral meatus, Hyp... |
ORPHA:2377 |
| Trisomy 5P |
|
Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia |
ORPHA:1742 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
ORPHA:75234 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... |
OMIM:248370 |
| Luscan-Lumish Syndrome |
|
Overgrowth, Obesity, Polyphagia, Aggressive behavior |
OMIM:616831 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyopathy, Obesity, Increase... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyopathy, Obesity, Increase... |
ORPHA:98853 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Hypoplasia of ... |
ORPHA:228402 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Abnormal... |
OMIM:616541 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficie... |
OMIM:604387 |
| Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Hyperglycemia, Hyperinsulinemia, Panc... |
OMIM:246200 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Weight loss, Low p... |
ORPHA:95427 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Hepatomegaly, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
| Wagro Syndrome |
|
Obesity, Nephroblastoma, Proteinuria, Polyphagia, Aggressive behavior, Compulsive behaviors, Agit... |
OMIM:612469 |
| Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Hypertrophic cardiomyopathy, Obesity, Increased LDL cholesterol concen... |
ORPHA:98863 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Immunodeficiency 61 |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:300310 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... |
ORPHA:77296 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Elevated circulating creatinine conce... |
OMIM:608836 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Precocious puberty, Failure to thrive in infancy, Abnormality of the ure... |
ORPHA:819 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:618725 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Hyperinsulinemic hypoglycem... |
OMIM:602579 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Microphallus, Delayed puberty, Abdominal obesity, Neonatal hypoglycemia, Anterior hypopituitarism |
ORPHA:631 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... |
ORPHA:2234 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Micropenis, Diabetes mel... |
OMIM:610628 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... |
ORPHA:261222 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Micropenis, Obesity, Delayed puberty |
OMIM:301900 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Alstrom Syndrome |
|
Nephritis, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol... |
OMIM:203800 |
| Mpi-Cdg |
|
Hypoalbuminemia, Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatomegaly |
ORPHA:79319 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:79444 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... |
OMIM:614450 |
| Angelman Syndrome |
|
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ... |
ORPHA:72 |
| Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia, Truncal... |
ORPHA:633 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothalamus-pituitary axis, Mitral v... |
ORPHA:2183 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst, Obesity, Diabetes mellitus |
OMIM:605231 |
| Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperlipidemia, Proteinuria, Delaye... |
ORPHA:369 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity, Oral-pharyngeal dysphagia |
ORPHA:480907 |
| Narcolepsy Type 1 |
|
Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Nocturia, R... |
ORPHA:2073 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Mitral valve prolapse |
ORPHA:2233 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... |
OMIM:615830 |
| Aromatase Deficiency |
|
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Hyperlip... |
ORPHA:91 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... |
ORPHA:508 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... |
ORPHA:567548 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Obesity, Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hypoglycemia, Cardiomyopathy, Splenomegaly, Renal tubular acidosis, Elevated c... |
ORPHA:264580 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis, Obesity, Glucose intolerance, Splenomegaly, Ventricular... |
OMIM:615630 |
| 48,Xxyy Syndrome |
|
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... |
ORPHA:10 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... |
ORPHA:96184 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight, Bulimia |
OMIM:614651 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Obesity, Elevated circulating creatine kinase concentration, Left ve... |
OMIM:615418 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinas... |
ORPHA:79240 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy |
OMIM:620065 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age, Abnormal heart morphology |
ORPHA:439167 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
| Seckel Syndrome 10 |
|
Insulin resistance, Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glyc... |
OMIM:617253 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... |
OMIM:600430 |
| Foxp1 Syndrome |
|
Decreased circulating iron concentration, Failure to thrive, Abnormal heart morphology, Attention... |
ORPHA:391372 |
| Chung-Jansen Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Impulsivity |
OMIM:617991 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Abnormal heart morphology, Obesity, Precocious puberty |
ORPHA:254525 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Premature adrenarche, Polydipsia, Central hypothyroidism, Increased circ... |
ORPHA:293987 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Obesity, Hyperactivity, Hypospadias, Diabetes mellitus |
OMIM:614613 |
| Microtriplication 11Q24.1 |
|
Bruxism, Obesity, Hyperlipidemia |
ORPHA:289522 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... |
OMIM:219090 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Xanthelas... |
OMIM:232200 |
| Short Syndrome |
|
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... |
ORPHA:3163 |
| Monosomy 13Q34 |
|
Insulin resistance, Obesity, Hypercalcemia, Common atrium, Fetal pyelectasis, Pulmonic stenosis |
ORPHA:96168 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration |
OMIM:613101 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Renal agenesis, Umbilical hernia, Obesity, Micropenis, Hypospadias |
ORPHA:171839 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction, Obesity, Urinary incontinence, Dysphagia, Urinary urgency |
OMIM:604360 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Self-injurious behavior, Enuresis, Obesity, Ing... |
ORPHA:96121 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Splenomegaly, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Flexion contr... |
OMIM:617591 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:79443 |
| Summitt Syndrome |
|
Tall stature, Obesity, Camptodactyly of finger |
ORPHA:3210 |
| Rafiq Syndrome |
|
Aggressive behavior, Obesity, Flexion contracture, Truncal obesity |
OMIM:614202 |
| Bardet-Biedl Syndrome 21 |
|
Horseshoe kidney, Obesity, Overweight |
OMIM:617406 |
| Werner Syndrome |
|
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... |
ORPHA:902 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
| H Syndrome |
|
Hypogonadism, Hepatosplenomegaly, Hernia, Lipodystrophy, Micropenis, Delayed puberty, Abnormality... |
ORPHA:168569 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia |
ORPHA:3077 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... |
ORPHA:358 |
| Whipple Disease |
|
Insulin resistance, Polydipsia, Anorexia, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, M... |
ORPHA:3452 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... |
OMIM:606721 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Patent foramen ovale, Decreased body weight, Ventricular sep... |
OMIM:270450 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypopituitarism, Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia |
OMIM:619013 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... |
OMIM:130650 |
| Cholesteryl Ester Storage Disease |
|
Failure to thrive, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatosplenome... |
OMIM:278000 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Situs inversus totalis, Renal ... |
OMIM:615994 |
| 19P13.12 Microdeletion Syndrome |
|
Self-injurious behavior, Precocious puberty, Arthrogryposis multiplex congenita, Obesity, Hyperli... |
ORPHA:254346 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:613027 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... |
OMIM:205400 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Low urinary cyclic AMP respons... |
OMIM:103580 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Abnormality of the urinary system, ... |
ORPHA:813 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... |
OMIM:300869 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Hypoglycemia, Hyperlipidemia, Elevated circulating creat... |
OMIM:232400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... |
ORPHA:247598 |
| Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Truncal obesity |
ORPHA:3459 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
| Clark-Baraitser Syndrome |
|
Aggressive behavior, Obesity, Hyperactivity |
OMIM:617752 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity |
OMIM:301013 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Panniculitis, Splenomegaly, Increased circulating ferritin concentration |
OMIM:618398 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational ag... |
OMIM:616026 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Glom... |
ORPHA:470 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Organic aciduria, Obesity, Aggressive behavior, Pica, Abnormal circulating acylcarnitine concentr... |
OMIM:620191 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceride... |
ORPHA:90041 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
| Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
| Familial Chylomicronemia Syndrome |
|
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... |
ORPHA:444490 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hyp... |
ORPHA:2089 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:352530 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity, Stage 1 chronic kidney disease, Patent foramen ovale |
OMIM:618821 |
| 15Q24 Microdeletion Syndrome |
|
Failure to thrive, Microphallus, Abnormal heart morphology, Decreased response to growth hormone ... |
ORPHA:94065 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... |
OMIM:618363 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr... |
OMIM:616629 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity |
OMIM:613192 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Renal insufficiency, Congenital nephrotic syndrome, Hyperlipide... |
OMIM:256300 |
| Baralle-Macken Syndrome |
|
Urinary incontinence, Obesity |
OMIM:619255 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Obesity, Hypoplasia of penis, F... |
ORPHA:3409 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... |
ORPHA:158057 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Abnormal heart morpholo... |
OMIM:615873 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Nephrocalcinosis |
OMIM:615633 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Xanthelas... |
OMIM:232220 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Recurrent urinary tract infections, Umbilica... |
ORPHA:404448 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... |
OMIM:276700 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Abnormal heart morphology, Obesity, Congenital d... |
ORPHA:261197 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Tall stature, Congenital diaphragmatic hernia, Hepatomegaly, Neonatal hypoglycemia, ... |
ORPHA:116 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity, Hyperactivity |
ORPHA:397973 |
| Fliedner-Zweier Syndrome |
|
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Ventri... |
OMIM:620511 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hypogonadism, Obesity, Left ventricular hypertrophy, Micropenis, Nephrogenic ... |
OMIM:209900 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Aggressive behavior, Overfriendliness, Hypertriglyceridemia |
OMIM:618010 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis |
ORPHA:90154 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... |
OMIM:615947 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Obesity, Vesicoureteral reflux, Pseudohypoparathyroidism, Abnormality of the en... |
ORPHA:464288 |
| Megalencephaly |
|
Long penis, Atrial septal defect, Truncal obesity |
ORPHA:2477 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aggressive behavior, Attention deficit hyperactivity disorder, Atrial ... |
OMIM:301039 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... |
OMIM:156200 |
| 13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Hyperactivity, Camp... |
ORPHA:412035 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... |
ORPHA:230 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Bruxism, Obesity, Wrist flexion contracture, Flexion contracture, Restlessness |
OMIM:300055 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... |
OMIM:212140 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Renal dysplasia,... |
ORPHA:96182 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Urinary incontinence, Obesity, Puberty and gonadal disorders |
ORPHA:464282 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Failure to thrive, Hypoglycemia, Xanthelasma, Stage 5 chronic kidney disease, H... |
ORPHA:79259 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... |
OMIM:618160 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Wagr Syndrome |
|
Obesity, Displacement of the urethral meatus |
ORPHA:893 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyper... |
OMIM:614702 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Bicuspid aortic val... |
ORPHA:401923 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Obesity, Streak ovary, Renal insufficiency, Nephroblastoma, Hypospadias |
OMIM:194072 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... |
ORPHA:163681 |
| Laurence-Moon Syndrome |
|
Micropenis, Obesity |
OMIM:245800 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
| Weaver Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Overgrowth, Polyphagia, Camptod... |
OMIM:277590 |
| Retinitis Pigmentosa 51 |
|
Obesity, Abnormality of the kidney |
OMIM:613464 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Hypertrophic cardiomyopathy, Sple... |
OMIM:617303 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Obesity |
OMIM:300238 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Aggressive behavior, Atrial septal defect, Pr... |
ORPHA:404443 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hypogonadism, Flexion contracture of digit, Self-mutilation, Reduced subcutaneous adipose tissue,... |
ORPHA:3041 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Increased circulating ferritin concentration, Endocardial fibroelasto... |
OMIM:619313 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary syst... |
ORPHA:369837 |
| 48,Xxxy Syndrome |
|
Abnormal dental enamel morphology, Tall stature, Obesity, Hypogonadism, Type II diabetes mellitus... |
ORPHA:96263 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Aggressive behavior, Delayed puberty, Hyperactivity, Abdominal obesity, Micropenis,... |
OMIM:300354 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight, Dysphagia, Abnormal cardiac septum morphology, Hyperactivity, Enu... |
ORPHA:589821 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Hypoplastic left heart, Obesity, Failure to thrive, Abnormality of the kidney |
OMIM:610543 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Self-mutilation, Ventricular septal defect, Polyphagia, Aggressive behavior, Micropenis, Restless... |
ORPHA:251028 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tall stature, Obesity, Hyperactivity |
OMIM:618089 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Tetralogy of Fallot, Obesity, Renal insufficiency, Vesicoureteral reflux... |
ORPHA:261494 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Dilated cardiomyopathy, Failure to thrive, Camptodactyly of finger, Abno... |
ORPHA:1606 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Overgrowth, Multiple lipomas, Lipoatrophy, Enlarged kidney |
ORPHA:276280 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:603553 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... |
ORPHA:411511 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Hydronephr... |
OMIM:615926 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... |
OMIM:615300 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Obesity, Atrioventricul... |
ORPHA:251071 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, Diabe... |
ORPHA:3157 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity, Left ventricular hypertrophy |
ORPHA:93952 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperglyc... |
ORPHA:79474 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Argininosuccinic aciduria, Elevated plasm... |
OMIM:603471 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Obesity, Abnormal cardiac atrium morphology, Abnormality of thyroid physi... |
ORPHA:563 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Camptodactyly ... |
OMIM:256040 |
| Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Obesity, Hydronephrosis, Micropenis |
OMIM:619185 |
| Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Duplicated collecting system, Failure to thrive, Obesity, Congenital dia... |
OMIM:616364 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Failure to thrive, Tetralogy of Fallot, Obesity, Conotruncal defect, Ingui... |
ORPHA:96147 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:589905 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Obesity, Renal agenesis |
ORPHA:247768 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Nephrob... |
ORPHA:1001 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Inguinal hernia, Enlarged kidney, Cystic... |
OMIM:608022 |
| Macrocephaly/Autism Syndrome |
|
Obesity, Large for gestational age, Penile freckling, Splenomegaly, Overgrowth, Hepatomegaly |
OMIM:605309 |
| Xp22.13P22.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Truncal obesity, Umbil... |
ORPHA:284180 |
| Bloom Syndrome |
|
Insulin resistance, Recurrent urinary tract infections, Nephroblastoma, Adipose tissue loss, Abdo... |
ORPHA:125 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Joint contracture of the hand, Hydroureter, Umbilical hernia, Tetralogy of Fa... |
OMIM:201000 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Abnormal heart morphology, Large for gestational age, Ventricular septal defect... |
ORPHA:254534 |
| Clark-Baraitser syndrome |
|
Tall stature, Obesity |
OMIM:300602 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity, Ventricular septal defect, Aggressive behavior, Attention deficit hy... |
OMIM:619312 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Pulmonary carcinoid tumor, Papillary renal cell c... |
ORPHA:363618 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Aggressive behavior, Obesity |
OMIM:619056 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Ventricular septal hypertrophy, Reduced subcutaneous adipose tissue |
OMIM:619322 |
| Cornelia De Lange Syndrome 5 |
|
Micropenis, Truncal obesity, Hypogonadism |
OMIM:300882 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Obesity, Streak ovary, Urogenital sinus anomaly, Perineal hypospadias, Hypospa... |
ORPHA:261529 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Obesity, Hypothala... |
ORPHA:2235 |
| Kleefstra Syndrome 1 |
|
Obesity, Conotruncal defect, Abnormal renal morphology, Motor stereotypy, Aggressive behavior, Mi... |
OMIM:610253 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat... |
ORPHA:500095 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Type II diabetes mellitus, Nephrotic syndrome, Abnormal heart morphology,... |
ORPHA:110 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Aggressive behavior, Cachexia, H... |
ORPHA:85293 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
| Carpenter Syndrome |
|
Obesity, Umbilical hernia |
ORPHA:65759 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Hypertrophic cardiomyopathy, Elevated circulating crea... |
ORPHA:439232 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Hematuria, Weight loss, Abnormality of the anterior pituitary... |
ORPHA:449395 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, C... |
OMIM:615415 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... |
ORPHA:98794 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Alström Syndrome |
|
Chronic kidney disease, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomeg... |
ORPHA:64 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Abnormality of urine homeostasis, Multiple lipomas, Hepatomegaly |
ORPHA:1414 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Microphallus, Small for gestational age, Truncal obesity, Increased body mass index |
OMIM:300957 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Precocious puberty, Failure to thrive, Umbilical hernia, Abnormal heart ... |
ORPHA:261652 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity |
ORPHA:85325 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Obesity, Conge... |
OMIM:607872 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Horseshoe kidney, Increased body weight, Aggressive behavior, Micropenis |
OMIM:300860 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Hypoketotic hy... |
ORPHA:157 |
| Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Maternal diabetes |
ORPHA:45452 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
