| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... |
ORPHA:324575 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Polyhydr... |
OMIM:240900 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
ORPHA:71526 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... |
ORPHA:276580 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... |
ORPHA:276556 |
| Huntington Disease |
|
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... |
ORPHA:399 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... |
OMIM:617885 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... |
OMIM:616834 |
| Schaaf-Yang Syndrome |
|
Small hand, Rocker bottom foot, Clinodactyly, Failure to thrive in infancy, Hypogonadism, Obesity... |
OMIM:615547 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Hypogonadism, Obesity, Large for gestational age, Polydactyly, Polyph... |
OMIM:617119 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... |
OMIM:620085 |
| Temple Syndrome |
|
Precocious puberty, Small hand, Recurrent hypoglycemia, Decreased response to growth hormone stim... |
ORPHA:254516 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity,... |
OMIM:610883 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Obesity, Narrow palm, Hypogonadotropic hypogonadism, Polyphagia, Short foot, Abnormal... |
ORPHA:177910 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Hyperinsulinemia |
OMIM:618406 |
| Obesity And Hypopigmentation |
|
Polyphagia, Obesity, Hyperinsulinemia |
OMIM:620195 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Erlenmeyer flask deformity of the femurs, Intention tremor |
OMIM:610539 |
| Joubert Syndrome 10 |
|
Postaxial foot polydactyly, Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, ... |
OMIM:300804 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... |
OMIM:275000 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Obesity, Polydactyly, Postaxial polydactyl... |
OMIM:615986 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... |
OMIM:614963 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Lipodystrophy, Pericardial effu... |
OMIM:608776 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Bilateral talipes equinovarus |
OMIM:616521 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... |
OMIM:600955 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Broad-based gait, Obesity, Polyphagia, Tapered finger |
ORPHA:171829 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
| 14Q11.2 Microduplication Syndrome |
|
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior |
ORPHA:261229 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Single ... |
OMIM:266510 |
| Prader-Willi Syndrome |
|
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Narrow palm, ... |
OMIM:176270 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Sandal gap, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, At... |
ORPHA:228402 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, Adrenal insuf... |
OMIM:609734 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... |
OMIM:618156 |
| X-Linked Acrogigantism |
|
Ataxia, Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemi... |
ORPHA:300373 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Proximal muscle weakness in upper limbs, Increas... |
ORPHA:435660 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Tremor, Nonimmune hydrops fetalis, Abnor... |
OMIM:212065 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena... |
ORPHA:177901 |
| Alg12-Cdg |
|
Hypoalbuminemia, Failure to thrive, Sandal gap, Recurrent hypoglycemia, Hypocholesterolemia, Over... |
ORPHA:79324 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Man1B1-Cdg |
|
Broad-based gait, Resting tremor, 2-3 toe syndactyly, Polyphagia, Truncal obesity, Clinodactyly o... |
ORPHA:397941 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Xerost... |
ORPHA:398079 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, Oligohydram... |
ORPHA:525731 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Broad palm |
OMIM:620439 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagi... |
OMIM:606407 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, Eleva... |
ORPHA:96180 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Low plasma citrull... |
ORPHA:95427 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small hand, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Increased bod... |
ORPHA:398069 |
| Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Angelman Syndrome |
|
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Inability to walk, Dela... |
ORPHA:72 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph... |
OMIM:608594 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr... |
OMIM:615238 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol c... |
OMIM:615558 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
| Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
| Rett Syndrome |
|
Failure to thrive, Bradykinesia, Increased serum leptin, Difficulty walking, Inability to walk, B... |
ORPHA:778 |
| Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, S... |
ORPHA:79444 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Elevated hemoglobin A1c, Hyperinsulinemia, Type II diabetes mellitus, Reduced s... |
OMIM:269700 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... |
ORPHA:435651 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Failure to thrive, Hypocholestero... |
ORPHA:14 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, Reduced C-peptide le... |
ORPHA:2126 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalan... |
ORPHA:79443 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Overlapping toe, Polyphagia, Talipes eq... |
OMIM:277590 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:607765 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Slender finger, Broad-based gait, Broad thumb, Small hand, Broad hallux, Self-mutilation, Tibial ... |
ORPHA:251028 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Sandal gap, Bruxism, Inappropriate laughter, Recurrent hand flapping, Po... |
OMIM:156200 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Failure to thrive |
ORPHA:71 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Polyhydramnios, Hypocholesterolemia |
OMIM:618810 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Increased blood urea nit... |
ORPHA:251004 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Broad thumb, Sandal gap, Oral-pharyngeal dysphagia, Umbilical hernia, B... |
ORPHA:404448 |
| Luscan-Lumish Syndrome |
|
Polyphagia, Obesity, Aggressive behavior, Advanced ossification of carpal bones |
OMIM:616831 |
| Trisomy 18P |
|
Abnormal finger morphology, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Gait disturbance, Hypoglycemia |
OMIM:616260 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... |
OMIM:300942 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Anasarca, Secondary hyperaldosteronism, Lymphedema, Reduced circulating transfer... |
ORPHA:90363 |
| Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia, Single transverse palmar crease, Narrow palm, Long palm, ... |
OMIM:244450 |
| Dubowitz Syndrome |
|
Eczematoid dermatitis, Hypocholesterolemia, Inguinal hernia, Single transverse palmar crease, Hyp... |
OMIM:223370 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Dysmetria, Si... |
ORPHA:96121 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Precocious puberty, 2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Fa... |
OMIM:270400 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Genu valgum, Polyphagia, Dysphagia, Motor stereotypy, Prominent fingertip pads, Decre... |
OMIM:615873 |
| Wagro Syndrome |
|
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation |
OMIM:612469 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Toe clinodactyly, Broad-based gait, Fixated interests, Eczematoid dermat... |
OMIM:620330 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
| Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Hyperglycemia, ... |
ORPHA:79474 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
| Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Opisthotonus, Lack of ... |
OMIM:614098 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Failure to thrive, Camptodactyly of finger, Hypogonadism, Obesity, Clino... |
ORPHA:1606 |
| Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Limited elbow movement, Osteolytic defects of the distal phalanges of the hand... |
OMIM:614008 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Short 5th finger, Camptodactyly of finger, Congenital hypothyroidism, Obesity, Oppositional defia... |
OMIM:607872 |
| Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal perivascular i... |
ORPHA:87503 |
| Alström Syndrome |
|
Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, ... |
ORPHA:64 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Shuffling gait, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Seve... |
ORPHA:740 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
