Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Iron Overload, Susceptibility To |
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Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Kleine-Levin Hibernation Syndrome |
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Polyphagia |
OMIM:148840 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperlipidemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Type 1 Diabetes Mellitus |
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Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Genetic Hyperferritinemia Without Iron Overload |
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Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Pick Disease Of Brain |
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Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hypertriglyceridemia, Polyphagia |
ORPHA:71529 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Obesity, Hyperphagia, And Developmental Delay |
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Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Gracile Syndrome |
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Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Renal Glucosuria |
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Polydipsia, Polyphagia |
OMIM:233100 |
Body Mass Index Quantitative Trait Locus 20 |
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Polyphagia |
OMIM:618406 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperlipidemia, Hypertriglyceridemia, Polyphagia |
OMIM:617885 |
Frontotemporal Dementia |
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Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Obesity And Hypopigmentation |
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Polyphagia |
OMIM:620195 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Huntington Disease |
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Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... |
ORPHA:399 |
Kleine-Levin Syndrome |
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Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276575 |
Leptin Receptor Deficiency |
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Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:324575 |
Neonatal Hemochromatosis |
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Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Bardet-Biedl Syndrome 22 |
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Polyphagia |
OMIM:617119 |
Leptin Deficiency Or Dysfunction |
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Polyphagia |
OMIM:614962 |
14Q11.2 Microduplication Syndrome |
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Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
Obesity Due To Sim1 Deficiency |
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Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Hypotonia-Cystinuria Syndrome |
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Polyphagia |
ORPHA:163690 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Hjv Or Hamp-Related Hemochromatosis |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Polyphagia |
ORPHA:177910 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
6Q16 Microdeletion Syndrome |
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Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Hypotonia-Cystinuria Syndrome |
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Polyphagia, Hypocalcemia |
OMIM:606407 |
Hemochromatosis, Type 2B |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
Obesity Due To Prohormone Convertase I Deficiency |
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Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Polyphagia |
ORPHA:71526 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity, Polyphagia |
OMIM:275000 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
Chromosome 22Q13 Duplication Syndrome |
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Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis |
ORPHA:75563 |
Bardet-Biedl Syndrome 9 |
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Polydipsia, Polyphagia |
OMIM:615986 |
Schaaf-Yang Syndrome |
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Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Temple Syndrome |
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Polyphagia |
ORPHA:254516 |
Hemochromatosis, Type 3 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:604250 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Obesity Due To Congenital Leptin Deficiency |
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Hypertriglyceridemia, Polyphagia |
ORPHA:66628 |
Secondary Short Bowel Syndrome |
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Low plasma citrulline, Polyphagia, Abnormal blood ion concentration |
ORPHA:95427 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:179494 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Aceruloplasminemia |
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Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Angelman Syndrome |
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Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... |
ORPHA:72 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... |
OMIM:615234 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Insulinoma |
|
Polyphagia |
ORPHA:97279 |
Pediatric-Onset Graves Disease |
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Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Pseudohypoparathyroidism Type 1C |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79444 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177901 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia |
ORPHA:98754 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79443 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Skin-picking, Polyphagia, Abnormal temper tantrums |
ORPHA:398079 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i... |
ORPHA:300298 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... |
ORPHA:96121 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
Adnp Syndrome |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... |
ORPHA:404448 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Compuls... |
ORPHA:293987 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:176270 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... |
OMIM:615873 |
Prader-Willi Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
X-Linked Acrogigantism |
|
Polyphagia |
ORPHA:300373 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c |
OMIM:269700 |
Craniopharyngioma |
|
Polyphagia |
ORPHA:54595 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Polyphagia |
OMIM:608594 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... |
ORPHA:309854 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia |
ORPHA:1606 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis |
OMIM:222470 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder |
OMIM:607872 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
Alström Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Polyphagia |
ORPHA:64 |