| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... |
OMIM:614662 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,... |
OMIM:614963 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Hyperinsulinemia, Obesity, Polyphagia, Increased bone mineral density |
OMIM:618406 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... |
ORPHA:71526 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia |
ORPHA:329249 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus |
OMIM:608320 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:620195 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... |
ORPHA:324575 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity |
OMIM:617885 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... |
ORPHA:95496 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276580 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276575 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Type II diabetes mellitus |
OMIM:615703 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f... |
ORPHA:67045 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy |
ORPHA:79084 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Delayed puberty, Hyperinsulinemic ... |
OMIM:616033 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... |
ORPHA:280356 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Osteopenia, Truncal obesity, Reduced bone mineral density, Recurrent fractures |
OMIM:620639 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... |
OMIM:606762 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... |
ORPHA:276556 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Failure to thrive |
OMIM:613668 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Lipodystrophy, Diabetes mellitus, Abdominal obesity |
OMIM:615980 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Ventriculomegaly, Central hypoth... |
ORPHA:398079 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
| Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive |
OMIM:601410 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy... |
OMIM:612526 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation |
OMIM:620315 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... |
OMIM:613670 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Finger joint hypermobility, Obesity |
ORPHA:436141 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:274300 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Decreased body weight, Abnormal pituitary gland morphology |
ORPHA:314621 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... |
ORPHA:2495 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Bone cyst... |
ORPHA:528 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Alexander Disease Type I |
|
Hydrocephalus, Cachexia, Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Small for gestational age |
OMIM:619057 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Iron Overload, Susceptibility To |
|
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... |
OMIM:620121 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ... |
OMIM:619476 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... |
ORPHA:35878 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Aggressive behavior, Obesity, Hyperactivity |
OMIM:620270 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... |
ORPHA:2457 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Tall statu... |
ORPHA:785 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased... |
OMIM:617718 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hypophosphatem... |
ORPHA:263455 |
| 14Q11.2 Microduplication Syndrome |
|
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior |
ORPHA:261229 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Ventriculomegaly, Central hypothyroidism, Failure to t... |
ORPHA:398069 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... |
OMIM:275000 |
| Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Attention deficit hyperactivit... |
ORPHA:73272 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... |
OMIM:620211 |
| Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... |
OMIM:300148 |
| Mehmo Syndrome |
|
Obesity, Diabetes mellitus, Agitation |
ORPHA:85282 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland |
OMIM:614402 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... |
OMIM:609734 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Cryptorchidism, Supernumerary nipple |
OMIM:618929 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Inguinal hernia |
OMIM:300209 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cryptorchidism |
OMIM:610125 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, Polyphagia |
ORPHA:177910 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Osteoporosis, Diabetes m... |
OMIM:610628 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia |
OMIM:222100 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... |
ORPHA:2298 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... |
ORPHA:226307 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity |
OMIM:615986 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Lipodystrophy, Loss of subcutaneous adipose tissue in limb... |
OMIM:615381 |
| 11P15.4 Microduplication Syndrome |
|
Aggressive behavior, Obesity |
ORPHA:300305 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Truncal obesity |
ORPHA:75858 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... |
OMIM:608600 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Fasting hyperinsulinemia |
OMIM:619489 |
| Perlman Syndrome |
|
Tall stature, Hyperinsulinemia, Femoral hernia, Inguinal hernia |
ORPHA:2849 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... |
OMIM:608612 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary |
OMIM:600775 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:88643 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-picking, Camptodactyly, Fle... |
OMIM:615547 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Failure to thrive, Truncal obesity |
ORPHA:261483 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Obesity, Overweight, Lateral ventricle dilatation |
ORPHA:2822 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... |
ORPHA:2234 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity |
ORPHA:411515 |
| Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Joint hypermobility, Truncal o... |
OMIM:616222 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
| Estrogen Resistance |
|
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... |
OMIM:615363 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Osteoarthritis, Osteoporosis, Abnormal... |
ORPHA:77296 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98793 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98754 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177904 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... |
OMIM:151660 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism... |
OMIM:615830 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177901 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Osteoporosis,... |
OMIM:613327 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:94086 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Joint hypermobility |
ORPHA:254531 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Neonatal hypoglycemia, Delayed puberty, Anterior hypopituitarism, Abdominal obesity |
ORPHA:631 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Failure to thrive, Decreased pineal volume |
OMIM:301108 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Tall stature, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous ad... |
OMIM:608594 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus |
OMIM:617542 |
| Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Abnormal thalamus morphology |
ORPHA:467166 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... |
ORPHA:95494 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
| Pituitary Carcinoma |
|
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... |
OMIM:308750 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity |
ORPHA:171829 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increa... |
OMIM:248370 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:620439 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Short Syndrome |
|
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Joint hypermobility, Weig... |
ORPHA:3163 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... |
OMIM:615234 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Failure to thrive, Decreased body weight |
OMIM:620085 |
| Huntington Disease |
|
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... |
ORPHA:399 |
| Immunodeficiency 61 |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:300310 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity |
OMIM:615993 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism |
OMIM:619908 |
| Joubert Syndrome 10 |
|
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight |
OMIM:300804 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:603233 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:618725 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
| Aromatase Deficiency |
|
Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Tall stature, Obesity, Eunuchoid... |
ORPHA:91 |
| Semilobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93924 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Obesity, Hyperactivity, Advanced ossification of carpal bones, Diabete... |
OMIM:614613 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Tall stature, Hyperinsulinemia, Decreased serum leptin, Type II diabetes mellit... |
OMIM:269700 |
| Werner Syndrome |
|
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Joint stiffness, Thyroid carc... |
ORPHA:902 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... |
OMIM:603358 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... |
OMIM:610489 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity, Oral-pharyngeal dysphagia, Joint hypermobility |
ORPHA:480907 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus |
ORPHA:2377 |
| 48,Xxyy Syndrome |
|
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... |
ORPHA:10 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... |
ORPHA:435651 |
| Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Lipo... |
ORPHA:2348 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Loss of s... |
ORPHA:79083 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Polyphagia, Neonatal hy... |
OMIM:606407 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Chung-Jansen Syndrome |
|
Obesity, Joint hypermobility, Aggressive behavior, Attention deficit hyperactivity disorder, Impu... |
OMIM:617991 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Obesity, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... |
OMIM:618160 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Overgrowth, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:3191 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... |
OMIM:610475 |
| Summitt Syndrome |
|
Tall stature, Obesity, Craniosynostosis, Camptodactyly of finger |
ORPHA:3210 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... |
ORPHA:79086 |
| Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight, Bulimia |
OMIM:614651 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gonadotropin-... |
OMIM:308700 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... |
OMIM:219090 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... |
OMIM:219080 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Joint hypermobility, Truncal o... |
ORPHA:96184 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| Hemochromatosis, Type 2B |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:613313 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabetic ketoacidosis |
OMIM:615238 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus |
OMIM:618620 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Ventriculomegaly, Central hypothyroidism, Decreased circulating ACTH... |
OMIM:620305 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Rafiq Syndrome |
|
Obesity, Joint hypermobility, Aggressive behavior, Truncal obesity, Flexion contracture |
OMIM:614202 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... |
OMIM:300869 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Hypothalamic hamartoma, Anterior hypopituitarism |
OMIM:241800 |
| Luscan-Lumish Syndrome |
|
Obesity, Overgrowth, Polyphagia, Aggressive behavior, Advanced ossification of carpal bones |
OMIM:616831 |
| Trisomy 5P |
|
Obesity |
ORPHA:1742 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Failure to thrive |
OMIM:619046 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity |
OMIM:615812 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Inguinal hernia, Hip contracture, Joint hypermobility, Amelogenesis imperfecta, Enamel h... |
OMIM:618363 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Narcolepsy Type 1 |
|
Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Restlessness |
ORPHA:2073 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... |
OMIM:300942 |
| Prader-Willi Syndrome |
|
Precocious puberty, Osteopenia, Self-injurious behavior, Class III obesity, Failure to thrive in ... |
OMIM:176270 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Osteopenia, Precocious puberty, Small pituitary gland, Decreased circulatin... |
ORPHA:739 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... |
OMIM:210740 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia |
ORPHA:3077 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... |
ORPHA:769 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:2233 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Abnormality of the adrenal glands |
ORPHA:68 |
| Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive |
ORPHA:79319 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age |
ORPHA:69665 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... |
OMIM:614450 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity |
OMIM:301013 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Ectopic ossification |
ORPHA:79445 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... |
OMIM:600430 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... |
OMIM:615300 |
| Laron Syndrome |
|
Hypoglycemia, Delayed puberty, Truncal obesity, Osteoarthritis, Abnormality of the endocrine system |
ORPHA:633 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... |
ORPHA:813 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, Increased c... |
ORPHA:525731 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Truncal obesity |
ORPHA:3459 |
| Clark-Baraitser Syndrome |
|
Aggressive behavior, Obesity, Hyperactivity |
OMIM:617752 |
| Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Hypogonadism, Obesity, Osteoporosis, Recurrent fractures, Flexion contra... |
ORPHA:3409 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... |
OMIM:103580 |
| Man1B1-Cdg |
|
Polyphagia, Truncal obesity, Joint hypermobility |
ORPHA:397941 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Craniosynostosis, Recurr... |
ORPHA:251004 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe... |
OMIM:270450 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Joint hypermobility, Obesity, Umbilical hernia |
ORPHA:1035 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:352530 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity |
OMIM:613192 |
| Beta-Thalassemia |
|
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... |
ORPHA:848 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Hypogonadism, Cryptorchidism, Hydro... |
ORPHA:500055 |
| Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
| 13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Hyperactivity, Camp... |
ORPHA:412035 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Seckel Syndrome 10 |
|
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... |
OMIM:617253 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity, Hyperactivity |
ORPHA:397973 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Obesity |
OMIM:300238 |
| Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary |
ORPHA:98889 |
| Whipple Disease |
|
Insulin resistance, Polydipsia, Cachexia, Hypothyroidism, Arthritis, Anorexia |
ORPHA:3452 |
| Hyperferritinemia With Or Without Cataract |
|
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... |
ORPHA:300298 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Femur fracture, Reduced bone mineral density, Reduced subcutaneous adipose ti... |
OMIM:619322 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Bruxism, Obesity, Wrist flexion contracture, Flexion contracture, Restlessness |
OMIM:300055 |
| Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
| Microtriplication 11Q24.1 |
|
Bruxism, Obesity, Limitation of joint mobility |
ORPHA:289522 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Glucose intolerance, Impaired glucose tolerance |
OMIM:615630 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Acroosteolysis of distal phalanges (feet), Delayed... |
ORPHA:90154 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Cryptorchidism |
OMIM:619244 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Limited shoulder movement, Obesity, Hyperextensibility of the finger joints |
OMIM:618821 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Inguinal hernia, Hypothyroidism, Truncal obesity, Diabetes mellitus |
OMIM:616541 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Aggressive behavior, Joint hypermobility |
OMIM:619056 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity, Dysphagia |
OMIM:604360 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Radioulnar synostosis, Obesity, Craniosynostosis, Umbilical hernia |
ORPHA:171839 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
| Senior-Loken Syndrome 9 |
|
Hypogonadism, Osteopenia, Obesity |
OMIM:616629 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Stankiewicz-Isidor Syndrome |
|
Pineal cyst, Cryptorchidism |
OMIM:617516 |
| 48,Xxxy Syndrome |
|
Abnormal dental enamel morphology, Tall stature, Obesity, Hypogonadism, Type II diabetes mellitus... |
ORPHA:96263 |
| 15Q24 Microdeletion Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Congenital dia... |
ORPHA:94065 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... |
OMIM:606721 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperg... |
ORPHA:79474 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Obesity, Hypo... |
OMIM:181450 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... |
OMIM:231100 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:79230 |
| Angelman Syndrome |
|
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ... |
ORPHA:72 |
| Kallmann Syndrome |
|
Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased testicular s... |
ORPHA:478 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter |
ORPHA:228402 |
| Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
| Clark-Baraitser syndrome |
|
Tall stature, Obesity, Joint hypermobility |
OMIM:300602 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint hypermobility, Aggressive behavior, Attention deficit hyperactivity disorder, Abdominal obe... |
OMIM:301039 |
| Wagro Syndrome |
|
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation |
OMIM:612469 |
| Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Failure to thrive |
OMIM:602579 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Self-mutilation,... |
ORPHA:3041 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... |
ORPHA:411511 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Joint hypermobility, Aggressive behavior, Pro... |
ORPHA:404443 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Pica, Obesity, Aggressive behavior, Joint hypermobility |
OMIM:620191 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Joint hypermobility, Aggressive behavior, Delayed puberty, Hyperactivity, Abdominal... |
OMIM:300354 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tall stature, Obesity, Hyperactivity |
OMIM:618089 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnorm... |
ORPHA:3157 |
| Monosomy 13Q34 |
|
Insulin resistance, Obesity |
ORPHA:96168 |
| Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Obesity |
ORPHA:464282 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hypogonadism, Obesity, Nephrogenic diabetes insipidus, Truncal obesity, Abdom... |
OMIM:209900 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... |
ORPHA:79444 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Weight loss |
ORPHA:95427 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
| Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... |
OMIM:616278 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
| Carpenter Syndrome |
|
Craniosynostosis, Obesity, Umbilical hernia |
ORPHA:65759 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity, Abnormal eating behavior, Limitation of movement at ankles, Inappropriate laughter, Recu... |
ORPHA:98794 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Obesity, Failure to thrive |
ORPHA:369950 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Small for gestational age, Abnormal thalamus morphology, Insulin-resis... |
ORPHA:2959 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus |
ORPHA:59315 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion due to cont... |
ORPHA:98855 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... |
ORPHA:508 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... |
ORPHA:163681 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Decreased respon... |
ORPHA:96182 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
| Gitelman Syndrome |
|
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Failure to thriv... |
ORPHA:358 |
| Wagr Syndrome |
|
Obesity |
ORPHA:893 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... |
ORPHA:79443 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro... |
OMIM:222470 |
| X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology, Cryptorchidism |
ORPHA:404440 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Self-injurious behavior, Obesity, Hypothyroidism, Hyperactivity, Craniosynost... |
ORPHA:254346 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint hypermobility, Small for gestational age, Truncal obesity, Increased body mass index |
OMIM:300957 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
| Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Diabetes mellitus |
ORPHA:69663 |
| Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Dilated third ventricle, Lateral ventricle dilatation, Bilateral crypt... |
ORPHA:544488 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Limitation of joint mobility, Acroosteolysis of distal phalanges (feet), Oste... |
ORPHA:90153 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Pineal cyst |
OMIM:618885 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Joint hypermobility, Aggressive ... |
ORPHA:85293 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Self-injurious behavior, Failure to thrive in infancy, Joint stiffness, Obesi... |
ORPHA:819 |
| Cornelia De Lange Syndrome 5 |
|
Hypogonadism, Limited elbow extension, Truncal obesity |
OMIM:300882 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus, Osteopenia, Obesity |
OMIM:619269 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion due to cont... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion due to cont... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion due to cont... |
ORPHA:98853 |
| Bloom Syndrome |
|
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... |
ORPHA:125 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Overfriendl... |
OMIM:616364 |
| Asparagine Synthetase Deficiency |
|
Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle, Failure to thrive |
OMIM:615574 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism |
ORPHA:464288 |
| Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation |
ORPHA:135 |
| Xp22.13P22.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Truncal obesity, Umbil... |
ORPHA:284180 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity |
ORPHA:85325 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Failure to thrive, Hydrocephalus, Overweight |
OMIM:619575 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Dysphagia, Hyperactivity, Decreased body weight |
ORPHA:589821 |
| Aceruloplasminemia |
|
Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri... |
OMIM:604290 |
| 2Q37 Microdeletion Syndrome |
|
Tracheomalacia, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Joint hypermobility, ... |
ORPHA:1001 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity diso... |
ORPHA:261197 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Failure to thrive, Super... |
ORPHA:397715 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Dilated fourth ventricle, Decreased thalamic volume, Hydrocephalus |
ORPHA:370959 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysph... |
OMIM:619312 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Small for gestational age |
ORPHA:508488 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity, Achilles tendon contracture |
OMIM:615418 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Atrophic pituitary gland, Ventriculomegaly, Thalamic edema |
ORPHA:2177 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Giant platelets, Thrombocytopenia |
OMIM:611209 |
| Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
| Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Pathologic fracture, Decreased serum leptin, Joint stiffness, Mandibular osteo... |
OMIM:614008 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity |
ORPHA:261222 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Fliedner-Zweier Syndrome |
|
Self-injurious behavior, Aggressive behavior, Obesity, Joint hypermobility |
OMIM:620511 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Obesity, Failure to thrive |
OMIM:610543 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Increased serum testosterone level |
ORPHA:247768 |
| Dysbetalipoproteinemia |
|
Hypothyroidism, Obesity, Gout, Diabetes mellitus |
ORPHA:412 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Obesity, Elevated circulating parathyroid hormone level, Joint... |
ORPHA:439822 |
| Adiposis Dolorosa |
|
Obesity, Hypothyroidism, Arthritis |
ORPHA:36397 |
| Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
| Desbuquois Dysplasia 1 |
|
Obesity, Advanced tarsal ossification, Joint hypermobility, Osteoarthritis, Osteoporosis, Advance... |
OMIM:251450 |
| Congenital Disorder Of Deglycosylation 2 |
|
Ventriculomegaly, Hypothalamic hamartoma |
OMIM:619775 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Tracheomalacia, Obesity, Inguinal hernia, Congenital diaphragmatic herni... |
ORPHA:96121 |
| Joubert Syndrome 37 |
|
Obesity, Joint hypermobility |
OMIM:619185 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Obesity, Polydipsia |
OMIM:615994 |
| Macrocephaly/Autism Syndrome |
|
Overgrowth, Obesity, Large for gestational age, Joint hypermobility |
OMIM:605309 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Joint hyp... |
ORPHA:404448 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Hypogonadism, Truncal obesity, Joint hypermobility |
ORPHA:127 |
| Congenital Analbuminemia |
|
Obesity, Lipodystrophy, Small for gestational age |
ORPHA:86816 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity, Aggressive behavior |
OMIM:620250 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Obesity, Decreased body weight, Joint hypermobility, Stereotypical hand wringing, Amelogenesis im... |
OMIM:619229 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity, Streak ovary |
OMIM:194072 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Recurrent hand flapping |
OMIM:619680 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Precocious ... |
OMIM:201000 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iron homeosta... |
ORPHA:84064 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
| Weaver Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Limited elbow extension, Inguinal hernia, Overgr... |
OMIM:277590 |
| Momo Syndrome |
|
Tall stature, Obesity, Large for gestational age, Overgrowth, Abnormal bone ossification |
ORPHA:2563 |
| 1P21.3 Microdeletion Syndrome |
|
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Joint hypermobility,... |
ORPHA:293948 |
| Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Joint hypermo... |
ORPHA:468678 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Lateral ventricle dilatation, Abnormal thalamus morphology |
ORPHA:300570 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Decreased response to... |
ORPHA:3464 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Increased susceptibility to fractures, Self-mutilation, Generalized joint hypermobili... |
ORPHA:251028 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... |
ORPHA:53693 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity, Delayed ossification of carpal bones, Joint hypermobility |
OMIM:618395 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Limitation of joint mobility, Limited hip movement, Joint stiffness, Decrease... |
ORPHA:740 |
| Kleefstra Syndrome 1 |
|
Obesity, Aggressive behavior, Compulsive behaviors, Tracheobronchomalacia, Motor stereotypy |
OMIM:610253 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity, Osteosclerosis of ribs |
ORPHA:174 |
| Ring Chromosome Y Syndrome |
|
Obesity, Streak ovary, Male hypogonadism |
ORPHA:261529 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Limitation of joint mobility, Tracheomalacia, Obesity, Self-mutilation, ... |
ORPHA:261494 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Dilated fourth ventricle |
OMIM:619306 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:464738 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon |
ORPHA:2720 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose in... |
ORPHA:99413 |
| Turner Syndrome |
|
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose in... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose in... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose in... |
ORPHA:99226 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... |
OMIM:156200 |
| Peripartum Cardiomyopathy |
|
Obesity, Abnormality of thyroid physiology, Diabetes mellitus |
ORPHA:563 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle |
ORPHA:314404 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Overweight, Obesity, Small for gestational age |
ORPHA:26793 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Decreased body weight, Col... |
OMIM:620371 |
| Thalidomide Embryopathy |
|
Insulin resistance, Radial club hand |
ORPHA:3312 |
| Helsmoortel-Van Der Aa Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Obesity, Joint... |
OMIM:615873 |
| Prolactinoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:2965 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... |
ORPHA:99889 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Hypoglycemia, Umbilical hernia, Obesity, Limited elbow extension, Aggressive ... |
OMIM:301066 |
| Wilson Disease |
|
Failure to thrive, Pathologic fracture, Increased body weight, Aggressive behavior, Weight loss, ... |
ORPHA:905 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
| 17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Pineal cyst, Truncal obesity |
ORPHA:529962 |
| 8P23.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Weight loss, Congenital diaphragmatic hernia |
ORPHA:251071 |
| Achondroplasia |
|
Obesity, Limited elbow extension, Hip joint hypermobility, Knee joint hypermobility |
ORPHA:15 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture, Hypogonadism, Obesity, Diabetes mellitus |
OMIM:614231 |
| Atelis Syndrome 2 |
|
Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat... |
OMIM:620185 |
| Angelman Syndrome |
|
Obesity, Paroxysmal bursts of laughter, Hyperactivity |
OMIM:105830 |
| Distal Deletion 12Q |
|
Pituitary adenoma, Maturity-onset diabetes of the young, Failure to thrive in infancy, Elbow flex... |
ORPHA:96149 |
| Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Joint hypermobility, Childhood-onset trunc... |
OMIM:216550 |
| Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Motor stereotypy... |
ORPHA:778 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Overgrowth, Obesity, Tracheomalacia |
OMIM:620155 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Elbow flexion contracture, Finger joint hypermobility, Obesity, Hip contracture |
OMIM:618493 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Obesity, Inguinal hernia, Femoral hernia, Failure to thrive |
ORPHA:96147 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Limited elbow extension, Type II diabetes mellitus, Enamel hypoplasia, Trunca... |
OMIM:210720 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Compulsive behaviors, Obesity |
OMIM:618443 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca... |
OMIM:613280 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic hormone defic... |
OMIM:615926 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Tracheomalacia, Umbilical hernia, Obesity, Inguinal hernia, Joint hypermobility, Reduced circulat... |
OMIM:620654 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Craniosynostosis, Obesity |
ORPHA:251038 |
| Gaisböck Syndrome |
|
Obesity, Gout, Overweight, Diabetes mellitus, Increased circulating renin level |
ORPHA:90041 |
| Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
| Down Syndrome |
|
Umbilical hernia, Obesity, Type II diabetes mellitus, Joint hypermobility, Delayed puberty, Hyper... |
ORPHA:870 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Tarsal sclerosis, Failure to thrive, Sclerosis of finger phalanx, Corneal scarring, Impaired oral... |
ORPHA:404454 |
| Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Inappropriate antidiuretic hormone secretion, Abnormal tha... |
ORPHA:79139 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperthyroidism, Thyrotoxicosis... |
ORPHA:79102 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Male hypogonadism, Oral-pharyngeal dysphagia, Decreased response to growth ho... |
ORPHA:273 |
| Aicardi Syndrome |
|
Precocious puberty, Dilated third ventricle, Lateral ventricle dilatation, Dandy-Walker malformation |
OMIM:304050 |
| Orofaciodigital Syndrome Type 6 |
|
Hypothalamic hamartoma, Failure to thrive, Bilateral cryptorchidism |
ORPHA:2754 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Decreased thalamic volume |
ORPHA:168577 |
| Tay-Sachs Disease |
|
Precocious puberty, Ventriculomegaly, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... |
OMIM:146510 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... |
ORPHA:91347 |
| Bardet-Biedl Syndrome |
|
Insulin resistance, Hypogonadism, Obesity, Impaired fasting glucose, Type II diabetes mellitus, J... |
ORPHA:110 |
| Generalized Pustular Psoriasis |
|
Obesity, Overweight, Arthritis |
ORPHA:247353 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ob... |
ORPHA:177907 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Self-injurious behavior, Frequent temper tantrums, Obesity, Aggressive behavior, Attention defici... |
OMIM:616078 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Delayed puberty, Joint hypermobility |
ORPHA:193 |
| Neutral Lipid Storage Myopathy |
|
Pineal cyst, Diabetes mellitus |
ORPHA:98908 |
| Ulnar-Mammary Syndrome |
|
Hernia of the abdominal wall, Obesity, Delayed puberty, Camptodactyly of finger |
ORPHA:3138 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
| Oculoectodermal Syndrome |
|
Pineal cyst, Supernumerary nipple |
OMIM:600268 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Failure to thrive, Camptodactyly of finger, Hypogonadism, Joint stiffnes... |
ORPHA:1606 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:466950 |
| Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:206900 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Ventriculomegaly, Decreased response to growth hormone stimulation test, Slen... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Ventriculomegaly, Decreased response to growth hormone stimulation test, Slen... |
ORPHA:363958 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Orofaciodigital Syndrome Vi |
|
Hypothalamic hamartoma, Failure to thrive |
OMIM:277170 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Osteopenia, Obesity, Joint hypermobility, Hypoparathyroidism, Craniosynostosis |
ORPHA:369837 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Attention deficit hyperactivity disorder, Truncal obesity, Joint hypermobility |
ORPHA:2637 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hypogonadism, Agenesis of pineal gland, Cryptorchidism |
ORPHA:536471 |
| Leigh Syndrome |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:506 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Failure to thrive, Violent behavior, Osteomyelitis, Obesity, Bruxism, Decre... |
OMIM:619475 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Slender build, Pineal cyst, Delayed puberty, Cryptorchidism |
OMIM:300967 |
| Primrose Syndrome |
|
Self-injurious behavior, Tics, Glucose intolerance, Reduced bone mineral density, Hip contracture... |
OMIM:259050 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Pineal cyst, Failure to thrive |
ORPHA:513456 |
| Xylt1-Cdg |
|
Truncal obesity, Joint hypermobility |
ORPHA:370930 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Dandy-Walker malformation, Bilateral cryptorch... |
ORPHA:434179 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Obesity, Tracheomalacia |
OMIM:616368 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:466943 |
| Desbuquois Dysplasia 2 |
|
Advanced ossification of carpal bones, Truncal obesity, Joint hypermobility |
OMIM:615777 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity, Joint hypermobility |
OMIM:250420 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Inguinal hernia |
OMIM:614947 |
| Pmm2-Cdg |
|
Insulin resistance, Osteopenia, Failure to thrive, Increased circulating prolactin concentration,... |
ORPHA:79318 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Fixated interests, Umbilical hernia, Joint hypermobility, Hair-pulling, ... |
OMIM:620330 |
| White-Kernohan Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Hypothyroidism, Joint hypermobility |
OMIM:619426 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Motor stereotypy, Inguinal hernia |
OMIM:618653 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Congenital hypothyroidism, Obesity, Oppositional defiant disorder, Self-... |
OMIM:607872 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
| Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Umbilical hernia, Tall stature, Obesity, Large for gestational age, Adrenocortical ... |
ORPHA:116 |
| Kabuki Syndrome |
|
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Joint hypermobility |
ORPHA:2322 |
| Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced behavior, Obesity, Joi... |
ORPHA:353281 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Splenomegaly, Increased circula... |
ORPHA:465508 |
| Holoprosencephaly 7 |
|
Panhypopituitarism, Fusion of the left and right thalami, Hydrocephalus |
OMIM:610828 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hypothalamic hamartoma, Hydrocephalus, Ovarian cyst |
OMIM:311200 |
| Williams-Beuren Syndrome |
|
Osteopenia, Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Early o... |
OMIM:194050 |
| 22Q11.2 Deletion Syndrome |
|
Failure to thrive, Multiple suture craniosynostosis, Umbilical hernia, Abnormal dental enamel mor... |
ORPHA:567 |
| Bardet-Biedl Syndrome 20 |
|
Obesity, Male hypogonadism |
OMIM:619471 |
| Alström Syndrome |
|
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... |
ORPHA:64 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Tracheomalacia, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity, Ce... |
ORPHA:444077 |
| Monosomy 22Q13.3 |
|
Umbilical hernia, Bruxism, Obesity, Hair-pulling, Hyperactivity |
ORPHA:48652 |
| Myhre Syndrome |
|
Limitation of joint mobility, Joint stiffness, Obesity, Camptodactyly, Vertebral fusion, Small fo... |
OMIM:139210 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... |
ORPHA:1435 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Type II diabetes mellitus, Congen... |
OMIM:613406 |
| Lysinuric Protein Intolerance |
|
Osteoporosis, Recurrent fractures, Failure to thrive, Truncal obesity |
OMIM:222700 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... |
ORPHA:309854 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Precocious puberty, Umbilical hernia, Failure to thrive in infa... |
ORPHA:904 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Flexion contracture, Truncal obesity |
OMIM:301072 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Dec... |
ORPHA:672 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Obesity, Streak ovary, Hypothyroidism, Delayed pubert... |
ORPHA:1772 |
| Liver Disease, Severe Congenital |
|
Failure to thrive, Umbilical hernia, Inguinal hernia, Joint hypermobility, Hyperinsulinemic hypog... |
OMIM:619991 |
| Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul... |
ORPHA:1359 |
| Digeorge Syndrome |
|
Parathyroid hypoplasia, Umbilical hernia, Obesity, Inguinal hernia, Parathyroid agenesis, Hypopla... |
OMIM:188400 |
| 6Q Terminal Deletion Syndrome |
|
Obesity, Failure to thrive, Joint hypermobility |
ORPHA:75857 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced behavior, Corneal scar... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced behavior, Corneal scar... |
ORPHA:353277 |
| Rubinstein-Taybi Syndrome 1 |
|
Keloids, Failure to thrive, Self-mutilation, Joint hypermobility, Premature thelarche, Enamel hyp... |
OMIM:180849 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... |
ORPHA:447 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Hypoplasia of the ovary, Abdominal obesity |
OMIM:619321 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Obesity, Failure to thrive, Pseudohypoparathyroidism |
OMIM:617157 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Obesity |
ORPHA:70591 |
| Carpenter Syndrome 2 |
|
Umbilical hernia, Obesity, Knee flexion contracture, Camptodactyly, Craniosynostosis |
OMIM:614976 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
| Norrie Disease |
|
Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Abnormality of the diencephalon, Di... |
ORPHA:649 |
| Cornelia De Lange Syndrome |
|
Failure to thrive, Joint stiffness, Congenital diaphragmatic hernia, Radioulnar synostosis, Atten... |
ORPHA:199 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Failure to thrive, Joint hypermobility, Truncal obesity, Camptodactyly, ... |
OMIM:612474 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypogonadism, Obesity, Paroxysmal bursts of laughter, Hyperactivity |
OMIM:309580 |
| Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Hyperinsulinemic hypoglycemia, Osteomyelitis |
ORPHA:2968 |
| Pallister-Killian Syndrome |
|
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Ing... |
OMIM:601803 |
