Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:71529 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Acantholysis, Palmoplantar keratoderma, Hypoa... |
OMIM:615508 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... |
ORPHA:399 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Cutaneous abscess |
ORPHA:555905 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Follicular hyperker... |
OMIM:616295 |
Darier-White Disease |
|
Pruritus, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276556 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Acantholysis, Prurit... |
ORPHA:293173 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Polyphagia |
OMIM:617885 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276575 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis |
ORPHA:79151 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:324575 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration |
OMIM:222765 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia |
ORPHA:71526 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypocalcemia |
OMIM:606407 |
Schaaf-Yang Syndrome |
|
Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Acantholysis |
OMIM:605676 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis |
OMIM:609638 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia |
OMIM:275000 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Warty Dyskeratoma |
|
Acantholysis |
ORPHA:69745 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Dysphagia, Polydipsia |
ORPHA:537 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:66628 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Polyphagia, Abnormal blood ion concentration, Steatorrhea |
ORPHA:95427 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:179494 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Acantholysis, Dysphagia, Elevated hepatic transaminase |
ORPHA:36426 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hyperactivity, Jaundice, Polydipsia, Polyphagia |
ORPHA:525731 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Skin rash, Elevated circulating C-reactive protein concentration, ... |
ORPHA:829 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... |
ORPHA:72 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Lethal Acantholytic Erosive Disorder |
|
Acantholysis |
ORPHA:158687 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Insulinoma |
|
Polyphagia |
ORPHA:97279 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration |
OMIM:608709 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Palmoplantar keratoderma, Hyperlipoproteinemia |
ORPHA:1979 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Acne |
ORPHA:3191 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:98793 |
Kennedy Disease |
|
Abnormal circulating lipid concentration |
ORPHA:481 |
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 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Pru... |
ORPHA:186 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia |
ORPHA:98754 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Skin-picking, Polyphagia, Abnormal temper tantrums |
ORPHA:398079 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Skin rash, Anorexia, Oral-ph... |
ORPHA:95455 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, S... |
ORPHA:293987 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration |
ORPHA:36382 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... |
ORPHA:845 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79444 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... |
ORPHA:96121 |
Prader-Willi Syndrome |
|
Erysipelas, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Adnp Syndrome |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... |
ORPHA:404448 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:176270 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixa... |
OMIM:620330 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79443 |
Overlap Myositis |
|
Elevated hepatic transaminase, Abnormal circulating lipid concentration, Elevated circulating cre... |
ORPHA:206572 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Polyphagia |
OMIM:608594 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... |
OMIM:615873 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Griscelli Syndrome |
|
Jaundice, Abnormal circulating lipid concentration, Hepatitis |
ORPHA:381 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma |
ORPHA:425 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration |
ORPHA:2833 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia |
OMIM:268800 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
X-Linked Acrogigantism |
|
Polyphagia |
ORPHA:300373 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Livedoid Vasculopathy |
|
Abnormal circulating lipid concentration, Recurrent skin infections, Superficial dermal perivascu... |
ORPHA:542643 |
Craniopharyngioma |
|
Polyphagia |
ORPHA:54595 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia |
ORPHA:1606 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder |
OMIM:607872 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Hypoalbuminemia, A... |
ORPHA:2298 |
Fabry Disease |
|
Hyperkeratosis, Hyperlipidemia, Abnormal circulating lipid concentration, Anorexia |
ORPHA:324 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis |
ORPHA:816 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Broad-based gait, Decreased serum iron, Inability to walk, Dystonia |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Portal hypertension, Hyperlipidemia, Hepatit... |
ORPHA:64 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Sjogren-Larsson Syndrome |
|
|
OMIM:270200 |