Obesity Due To Melanocortin 4 Receptor Deficiency |
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Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child... |
ORPHA:71529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Pol... |
ORPHA:329249 |
Obesity Due To Prohormone Convertase I Deficiency |
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Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Polyphag... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Polyphag... |
ORPHA:71526 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Obesity And Hypopigmentation |
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Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity |
OMIM:620195 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... |
ORPHA:276580 |
Obesity Due To Sim1 Deficiency |
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Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fast... |
ORPHA:276575 |
Body Mass Index Quantitative Trait Locus 20 |
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Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Leptin Receptor Deficiency |
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Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Polyphagia |
OMIM:614963 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Body Mass Index Quantitative Trait Locus 19 |
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Polyphagia, Insulin resistance, Hyperinsulinemia, Obesity |
OMIM:617885 |
Temple Syndrome |
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Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia |
ORPHA:254516 |
Insulinoma |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Obesity, Hyperphagia, And Developmental Delay |
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Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Renal Glucosuria |
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Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Bardet-Biedl Syndrome 9 |
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Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Bardet-Biedl Syndrome 22 |
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Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Huntington Disease |
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Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Pick Disease Of Brain |
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Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
14Q11.2 Microduplication Syndrome |
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Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Leptin Deficiency Or Dysfunction |
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Polyphagia, Obesity |
OMIM:614962 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Cholestasis, Polyphagia, Obesity, Hypoglycemic seizures |
OMIM:609734 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Hypotonia-Cystinuria Syndrome |
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Failure to thrive, Polyphagia |
ORPHA:163690 |
Hypotonia-Cystinuria Syndrome |
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Failure to thrive, Polyphagia, Neonatal hypoglycemia |
OMIM:606407 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Polyphagia, Obesity |
ORPHA:177910 |
Schaaf-Yang Syndrome |
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Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact... |
OMIM:615547 |
Obesity Due To Congenital Leptin Deficiency |
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Polyphagia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:66628 |
6Q16 Microdeletion Syndrome |
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Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Kleine-Levin Syndrome |
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Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Polyphagia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:179494 |
Frontotemporal Dementia |
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Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Kleine-Levin Hibernation Syndrome |
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Polyphagia |
OMIM:148840 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Cebalid Syndrome |
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Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Pediatric-Onset Graves Disease |
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Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Splenomegaly, Jaundice, Polydipsia, F... |
ORPHA:525731 |
Man1B1-Cdg |
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Truncal obesity, Polyphagia |
ORPHA:397941 |
Secondary Short Bowel Syndrome |
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Failure to thrive, Polyphagia, Cholestasis, Weight loss |
ORPHA:95427 |
Magel2-Related Prader-Willi-Like Syndrome |
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Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mell... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessiv... |
ORPHA:98793 |
Sim1-Related Prader-Willi-Like Syndrome |
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Obesity, Abdominal obesity, Type II diabetes mellitus, Abnormal temper tantrums, Skin-picking, Fa... |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessiv... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessiv... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:98754 |
Angelman Syndrome |
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Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
Luscan-Lumish Syndrome |
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Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
Wagro Syndrome |
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Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Prader-Willi Syndrome |
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Failure to thrive in infancy, Hyperinsulinemia, Obesity, Self-injurious behavior, Abdominal obesi... |
OMIM:176270 |
Trisomy 18P |
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Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
X-Linked Acrogigantism |
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Increased body mass index, Fasting hyperinsulinemia, Abnormal oral glucose tolerance, Polyphagia |
ORPHA:300373 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Polyphagia, Abnormal dental enamel morphology, Obesity |
ORPHA:251004 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Prader-Willi Syndrome |
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Diabetes mellitus, Abdominal obesity, Attention deficit hyperactivity disorder, Failure to thrive... |
ORPHA:739 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Elevated hepatic transaminase, Polydipsia, Cyanosis, Aggressive behavior, Obesity, Self-injurious... |
ORPHA:293987 |
Chromosome 22Q13 Duplication Syndrome |
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Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Craniopharyngioma |
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Polyphagia, Type II diabetes mellitus, Obesity |
ORPHA:54595 |
7Q11.23 Microduplication Syndrome |
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Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Adnp Syndrome |
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Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, Compulsive beha... |
ORPHA:404448 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Weaver Syndrome |
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Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
Chromosome Xq26.3 Duplication Syndrome |
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Polyphagia |
OMIM:300942 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal obesity, Comp... |
OMIM:615873 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Abnormality of the spleen, Abnormal repetitive mannerisms, Polyphagia, O... |
ORPHA:1606 |
Pseudohypoparathyroidism Type 1C |
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Enamel hypoplasia, Polyphagia, Obesity |
ORPHA:79444 |
Gangliocytoma |
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Polyphagia |
ORPHA:251937 |
Pseudohypoparathyroidism Type 1A |
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Enamel hypoplasia, Polyphagia, Obesity |
ORPHA:79443 |
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 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Aggressive behavior, Obesity, Dysphagia, Camptodactyly, Polyphagia, Self... |
OMIM:607872 |
Alström Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Dorsocervical fat pad, Portal hypertension, Splenome... |
ORPHA:64 |