Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Increased serum serotonin |
ORPHA:85288 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71526 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior |
OMIM:614963 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... |
OMIM:616829 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Elevated cir... |
OMIM:214900 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... |
ORPHA:79085 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435660 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatocellular carcinoma, Hyperli... |
ORPHA:369 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... |
OMIM:615238 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Elevated gamma-glutamyltransferas... |
OMIM:278000 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Temple Syndrome |
|
Polyphagia, Small for gestational age, Obesity |
ORPHA:254516 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Agitation, Small for gestational age, Polyphagia, Large for gestational age |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterol... |
OMIM:306000 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Self-injurious behavior, Agitation, Aggressive behavior, Large for gestational age |
OMIM:616116 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Obesity, Skin-picking, Polyphagia |
OMIM:615547 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Recurrent hand flapping, Pica, Tall stature |
OMIM:615032 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... |
ORPHA:79303 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Luscan-Lumish Syndrome |
|
Polyphagia, Overgrowth, Obesity, Aggressive behavior |
OMIM:616831 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea |
OMIM:618752 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
OMIM:606407 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... |
OMIM:605814 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Chromosome Xq26.3 Duplication Syndrome |
|
Overgrowth, Polyphagia, Tall stature |
OMIM:300942 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
OMIM:608747 |
Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypothermia, Pituitary hypothyroi... |
ORPHA:90674 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight |
ORPHA:276608 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Type II ... |
OMIM:616860 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Abnormal temper tantrums, Skin-picking, Failure to thrive, Polyphagia |
ORPHA:398079 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Failure to thrive, Polydipsia, Polyphagia |
ORPHA:525731 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive |
OMIM:304800 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
ORPHA:85327 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessive-compulsive trait,... |
ORPHA:98793 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Decr... |
OMIM:608594 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessive-compulsive trait,... |
ORPHA:177904 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Increased body weight, Abdominal obesity, Abnormal temper tantrums, Compulsive behav... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessive-compulsive trait,... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal temper tantrums, S... |
ORPHA:98754 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Obesity |
ORPHA:251004 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Adrenal insufficiency, Disi... |
ORPHA:43 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:269700 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Failur... |
ORPHA:209905 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia |
ORPHA:223 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Obesity, Self-injurious behavior, Abdominal obesity, Attention defi... |
OMIM:176270 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Cystinosis |
|
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Lysosomal Acid Lipase Deficiency |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Failure to t... |
ORPHA:275761 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Keppen-Lubinsky Syndrome |
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Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Adnp Syndrome |
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Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper tantrums, Compul... |
ORPHA:404448 |
7Q11.23 Microduplication Syndrome |
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Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Obesity, Self-injurious behavior, ... |
ORPHA:96121 |
Apparent Mineralocorticoid Excess |
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Polydipsia, Failure to thrive |
ORPHA:320 |
Marchiafava-Bignami Disease |
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Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
Familial Hyperaldosteronism Type I |
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Polydipsia |
ORPHA:403 |
Wilson Disease |
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Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Prader-Willi Syndrome |
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Abdominal obesity, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
Methanol Poisoning |
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Addictive alcohol use |
ORPHA:31825 |
Bardet-Biedl Syndrome 17 |
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Polydipsia, Obesity |
OMIM:615994 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal obesity, Comp... |
OMIM:615873 |
Atypical Werner Syndrome |
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Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnormal circulating lep... |
ORPHA:79474 |
X-Linked Acrogigantism |
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Increased body mass index, Polyphagia, Tall stature |
ORPHA:300373 |
Nephronophthisis 4 |
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Polydipsia |
OMIM:606966 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia |
OMIM:613677 |
Weaver Syndrome |
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Overgrowth, Polyphagia |
OMIM:277590 |
Nestor-Guillermo Progeria Syndrome |
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Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Acute Promyelocytic Leukemia |
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Addictive alcohol use, Anorexia, Weight loss |
ORPHA:520 |
East Syndrome |
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Polydipsia, Salt craving |
ORPHA:199343 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Abdominal obesity, Increased body weight |
OMIM:615954 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Renal Hypoplasia |
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Polydipsia, Small for gestational age |
ORPHA:93101 |
Craniopharyngioma |
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Polyphagia, Obesity |
ORPHA:54595 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Agitation, Increased body weight, Large for gestational age |
ORPHA:263455 |
Gangliocytoma |
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Polyphagia |
ORPHA:251937 |
Senior-Loken Syndrome 3 |
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Polydipsia |
OMIM:606995 |
Acute Lung Injury |
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Addictive alcohol use |
ORPHA:178320 |
Isolated Osteopoikilosis |
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Addictive alcohol use |
ORPHA:166119 |
Pseudohypoparathyroidism Type 1C |
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Polyphagia, Obesity |
ORPHA:79444 |
Familial Hyperaldosteronism Type Iii |
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Polydipsia |
ORPHA:251274 |
Septo-Optic Dysplasia Spectrum |
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Polydipsia, Obesity |
ORPHA:3157 |
Whipple Disease |
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Cachexia, Polydipsia, Anorexia |
ORPHA:3452 |
Hyperparathyroidism, Neonatal Severe |
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Polydipsia, Failure to thrive |
OMIM:239200 |
1P21.3 Microdeletion Syndrome |
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Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Nephronophthisis 3 |
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Polydipsia |
OMIM:604387 |
Herpes Simplex Virus Encephalitis |
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Addictive alcohol use |
ORPHA:1930 |
Nephronophthisis 1 |
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Polydipsia |
OMIM:256100 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
Pseudohypoparathyroidism Type 1A |
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Polyphagia, Obesity |
ORPHA:79443 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... |
ORPHA:404454 |
Primary Unilateral Adrenal Hyperplasia |
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Polydipsia |
ORPHA:231580 |
Sotos Syndrome |
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Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... |
OMIM:117550 |
Gitelman Syndrome |
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Failure to thrive, Polydipsia, Salt craving |
OMIM:263800 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Polydipsia |
ORPHA:369929 |
Staphylococcal Necrotizing Pneumonia |
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Addictive alcohol use |
ORPHA:36238 |
Nephronophthisis 11 |
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Polydipsia |
OMIM:613550 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Addictive alcohol use |
ORPHA:90065 |
1P36 Deletion Syndrome |
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Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure to thrive, Abnormal repetitive m... |
ORPHA:1606 |
Oligomeganephronia |
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Polydipsia, Small for gestational age |
ORPHA:2260 |
Senior-Loken Syndrome 1 |
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Polydipsia |
OMIM:266900 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Increased body weight |
OMIM:615830 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Polydipsia, Salt craving |
OMIM:612780 |
Hypomagnesemia 3, Renal |
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Polydipsia, Failure to thrive |
OMIM:248250 |
Toxic Epidermal Necrolysis |
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Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
Senior-Boichis Syndrome |
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Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Aggressive behavior, Obesity, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder |
OMIM:607872 |
Helix Syndrome |
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Polydipsia |
OMIM:617671 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Infantile Nephropathic Cystinosis |
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Polydipsia, Failure to thrive |
ORPHA:411629 |
Pituitary Dermoid And Epidermoid Cysts |
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Polydipsia |
ORPHA:91351 |
Hutchinson-Gilford Progeria Syndrome |
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Cyanosis, Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, ... |
ORPHA:740 |
Cirrhotic Cardiomyopathy |
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Addictive alcohol use |
ORPHA:57777 |
Erdheim-Chester Disease |
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Polydipsia, Weight loss |
ORPHA:35687 |
Panhypophysitis |
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Polydipsia |
ORPHA:95513 |
Adrenocortical Carcinoma |
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Increased body weight, Weight loss |
ORPHA:1501 |
Parathyroid Carcinoma |
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Polydipsia, Weight loss, Dysphagia |
ORPHA:143 |
Porphyria Cutanea Tarda |
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Addictive alcohol use |
ORPHA:101330 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Polydipsia, Failure to thrive |
OMIM:602522 |
Distal Renal Tubular Acidosis |
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Polydipsia, Failure to thrive |
ORPHA:18 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Abdominal obesity, Increased body weight |
ORPHA:189427 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Increased body weight |
ORPHA:264580 |
Juvenile Nephropathic Cystinosis |
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Polydipsia, Failure to thrive |
ORPHA:411634 |
Ethylene Glycol Poisoning |
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Addictive alcohol use |
ORPHA:31826 |
Cystinosis, Nephropathic |
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Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia |
OMIM:219800 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight |
ORPHA:79240 |
Rabson-Mendenhall Syndrome |
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Polydipsia |
ORPHA:769 |
Gitelman Syndrome |
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Failure to thrive, Polydipsia, Salt craving |
ORPHA:358 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Dysphagia |
ORPHA:99880 |
Proximal Renal Tubular Acidosis |
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Polydipsia, Failure to thrive |
ORPHA:47159 |
Wolfram Syndrome |
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Polydipsia |
ORPHA:3463 |
Bartter Syndrome, Type 2, Antenatal |
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Polydipsia, Failure to thrive, Small for gestational age |
OMIM:241200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Polydipsia |
ORPHA:93111 |
Arima Syndrome |
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Polydipsia |
OMIM:243910 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Fasciitis, Hyperactivity, Hypothermia, Impulsivity, Corneal scarring, Atypical scarr... |
ORPHA:642 |
Cushing Disease |
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Truncal obesity, Abdominal obesity, Increased body weight |
ORPHA:96253 |
Autosomal Recessive Polycystic Kidney Disease |
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Polydipsia |
ORPHA:731 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
Alström Syndrome |
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Truncal obesity, Polyphagia, Obesity |
ORPHA:64 |
Carney Complex |
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Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |