Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Osteopenia And Sparse Hair |
|
Sparse hair, Osteopenia |
OMIM:259690 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Aggressive behavior |
ORPHA:329249 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... |
OMIM:601820 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi... |
ORPHA:276580 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia |
OMIM:620085 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly... |
ORPHA:276575 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia |
OMIM:275000 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia |
ORPHA:79084 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia |
ORPHA:276556 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Schaaf-Yang Syndrome |
|
Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... |
OMIM:616033 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
OMIM:606407 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia |
OMIM:609734 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... |
ORPHA:72 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... |
ORPHA:363400 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Agitation, Pancre... |
ORPHA:263455 |
Secondary Short Bowel Syndrome |
|
Polyphagia |
ORPHA:95427 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
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 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... |
ORPHA:2298 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
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 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia |
ORPHA:251004 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... |
ORPHA:528 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... |
ORPHA:96121 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
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 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... |
OMIM:246200 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Failur... |
ORPHA:79237 |
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 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:248370 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Pseudohypoparathyroidism Type 1C |
|
Polyphagia |
ORPHA:79444 |
Craniopharyngioma |
|
Polyphagia |
ORPHA:54595 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t... |
OMIM:613327 |
Pseudohypoparathyroidism Type 1A |
|
Polyphagia |
ORPHA:79443 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... |
ORPHA:79086 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia |
ORPHA:1606 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... |
ORPHA:404454 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder |
OMIM:607872 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab... |
ORPHA:79474 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99413 |
Turner Syndrome |
|
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:881 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99226 |
Alström Syndrome |
|
Polyphagia |
ORPHA:64 |
Pmm2-Cdg |
|
Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circulating g... |
ORPHA:79318 |