| Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
OMIM:167755 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Dia... |
ORPHA:99886 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Intrauterine growth retardation, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of... |
OMIM:613370 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Intrauterine growth retardation, Transient neonatal diab... |
OMIM:601410 |
| Short Stature Due To Ghsr Deficiency |
|
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Growth de... |
ORPHA:314811 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... |
ORPHA:171706 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight |
OMIM:613375 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Bangstad Syndrome |
|
Small for gestational age, Goiter, Insulin-resistant diabetes mellitus, Severe short stature, Pro... |
OMIM:210740 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Short stature, Insulin-resistant d... |
OMIM:262190 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance |
OMIM:125853 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Delayed ... |
ORPHA:314802 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Severe postnatal growth retardation, Short stature, Pituitar... |
OMIM:262700 |
| Childhood Disintegrative Disorder |
|
Dementia, Anxiety, Social and occupational deterioration, Bowel incontinence, Mental deterioratio... |
ORPHA:168782 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... |
ORPHA:324575 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Hypoglycemia, Short stature, Hypogonadism, Ataxia, Postnatal gr... |
OMIM:616113 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia |
OMIM:222100 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Small for gestational age, Hyperglycemia, Glycosuria, Type I diabetes mellitus |
OMIM:618857 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Pituitary dwarfism, Severe short stature, Impaired growth-hormone response to insul... |
OMIM:262400 |
| Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Goiter, Weight loss, Hyperactivity, Graves disease |
OMIM:275000 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Diabetes mellitus, Typ... |
OMIM:606176 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age |
OMIM:618858 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight, Short stature |
OMIM:616311 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Growth delay, Polyphagia, Failure to thrive, Decreased response to... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Growth delay, Polyphagia, Failure to thrive, Decreased response to... |
ORPHA:71526 |
| Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... |
ORPHA:100083 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... |
ORPHA:453533 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Dysphagia, Dysmetria, Focal dystonia, Progressive cerebel... |
OMIM:605361 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Attention deficit hyperactivity disorder, Impaired sensitivity to thyroid hormone, Increased circ... |
OMIM:188570 |
| Mody |
|
Intrauterine growth retardation, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... |
ORPHA:79084 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Small for gestational age, Goiter |
OMIM:274300 |
| Early-Onset Schizophrenia |
|
Shyness, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Lack of peer... |
ORPHA:96369 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Excessive insulin ... |
ORPHA:276580 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Mahvash Disease |
|
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... |
ORPHA:412066 |
| Juvenile Huntington Disease |
|
Dystonia, Dementia, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar atax... |
ORPHA:248111 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter |
OMIM:274700 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... |
ORPHA:276575 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia, Short stature |
ORPHA:329249 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity, Decreased te... |
OMIM:614962 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Glucose intolerance, Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia |
ORPHA:369873 |
| Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
| Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Wolfram-Like Syndrome |
|
Dementia, Severe postnatal growth retardation, Glucose intolerance, Progressive cerebellar ataxia... |
ORPHA:411590 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:66628 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Chorea, Cognitive impairment, Ataxia, Anxiety, Depression, Memo... |
ORPHA:401901 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, L... |
ORPHA:2089 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Intrauterine growth retardation, Hyperglycemia, Precocious puberty, Pancrea... |
OMIM:246200 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:179494 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274800 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight, Intrauterine growth retardation, Short stature |
OMIM:608747 |
| Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism,... |
ORPHA:1332 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Short stature |
DECIPHER:8 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Polyphagia |
OMIM:618406 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss, Hyperactivity, Hyperthyroidi... |
ORPHA:424 |
| Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Small for gestational age, Goiter, Hyperactivity, Hyperthyroidism |
OMIM:609152 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Dysphagia, Dysmetria, Chorea, Ataxia, Irritability, Mental deterioration, Anx... |
OMIM:618093 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, Hyperinsulinem... |
ORPHA:276556 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
| Huntington Disease |
|
Gait imbalance, Decreased body mass index, Choking episodes, Apathy, Irritability, Oral-pharyngea... |
ORPHA:399 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Diabetes insipidus, Polydipsia, Weight loss, Lethargy |
ORPHA:30925 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity |
OMIM:615986 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Weight loss, Hyperactivity, Hyperthyroidism, Activating thyroid-stim... |
ORPHA:99819 |
| Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... |
OMIM:609425 |
| Anaplastic Thyroid Carcinoma |
|
Dysphagia, Goiter, Weight loss, Anaplastic thyroid carcinoma, Nodular goiter |
ORPHA:142 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Ataxia, Hypoglycemia, Failure to thrive |
OMIM:220111 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity, Short stature, Small for gestational age |
ORPHA:85288 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Hyperi... |
OMIM:604367 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Growth delay, Goiter, Lethargy |
OMIM:274400 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Dystonia, Hypoglycemia, Progressive cerebellar ataxia |
ORPHA:67046 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Intrauterine growth retardation, Short stature, Aggressive behavior, Hyperactivity, Impulsivity |
OMIM:309548 |
| Glutaric Aciduria Iii |
|
Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Lethargy, Hyperglycemia, Hypogonadotropic hypogonadism, Weight loss, Diabetes... |
ORPHA:465508 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:613239 |
| Fraxe Intellectual Disability |
|
Intrauterine growth retardation, Short stature, Aggressive behavior, Hyperactivity, Impulsivity |
ORPHA:100973 |
| Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Thyroid dysgenesis, Short stature, Goiter |
ORPHA:226292 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circu... |
ORPHA:95716 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration |
OMIM:615924 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Diabetes mellitus |
OMIM:609069 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
| Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Dysphagia, Growth delay, Goiter, Neoplasm of... |
ORPHA:163634 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Papillary thyroid carcinoma, Euthyroid multinodular goiter |
OMIM:138800 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Hypoglycemia, Severe short stature |
OMIM:223500 |
| Short Syndrome |
|
Intrauterine growth retardation, Small for gestational age, Insulin-resistant diabetes mellitus, ... |
OMIM:269880 |
| Brain-Lung-Thyroid Syndrome |
|
Dystonia, Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Growth delay... |
ORPHA:209905 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Non-medullary thyroid carcinoma, Goiter |
OMIM:616534 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Failure to thrive |
OMIM:618362 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:319487 |
| Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration |
ORPHA:2382 |
| Myxedema |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Lethargy |
OMIM:255900 |
| Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
| Bangstad Syndrome |
|
Intrauterine growth retardation, Short stature, Increased circulating cortisol level, Polycystic ... |
ORPHA:1227 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
| Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Birth length less than 3rd percentile, Inability to walk... |
OMIM:300148 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Short stature |
OMIM:300271 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Short stature, Aggressive behavior, Shuffling gait, Hyper... |
ORPHA:3077 |
| Pediatric-Onset Graves Disease |
|
Increased circulating T4 level, Intrauterine growth retardation, Goiter, Polyphagia, Failure to t... |
ORPHA:525731 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Recurrent hypoglycemia, Weight loss, Hypoinsulinemia, Hypoglycemia |
ORPHA:2126 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... |
ORPHA:66624 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Decreased circulating free T3, Growth delay, Thyroid hypoplasia, Pituitary hypothyroidi... |
ORPHA:99832 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Postnatal growth retardation, Hypoglycemia |
OMIM:232700 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty, Short stature |
OMIM:616033 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Polyphagia, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait, Obesity |
ORPHA:411515 |
| Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
| Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... |
ORPHA:280356 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Unsteady gait, Hypoglycemia |
OMIM:610090 |
| Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Short stature, Polyphagia, Recurrent hypogl... |
ORPHA:254516 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Macroorchidism, Growth delay, Goiter, Thyroid hypoplasia, Failure to thrive, Pituitary ... |
ORPHA:90674 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... |
ORPHA:226313 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:97290 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety, Short stature |
ORPHA:521258 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety, Short stature |
OMIM:300979 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
| Thyroid Lymphoma |
|
Dysphagia, Goiter, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis |
ORPHA:97285 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Intrauterine growth retardation, Severe... |
ORPHA:769 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
| Huntington Disease-Like 2 |
|
Dystonia, Gait disturbance, Weight loss |
ORPHA:98934 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Goiter |
OMIM:274240 |
| Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss, Diabetes mellitus, Short stature |
ORPHA:317 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Decreased body weight, Short stature |
OMIM:618342 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Short stature, Chorea, ... |
ORPHA:309246 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Diabetes mellitus |
ORPHA:90003 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypogonadism, Hypoglycemia, Primary adrenal insufficiency, Failure to thrive |
OMIM:617872 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Growth delay, Failure to thrive, Impaired glucose tolerance, Glycosuria, Di... |
ORPHA:2088 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Intrauterine growth retardation, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Weight ... |
ORPHA:99885 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Short stature, Thyroid hypoplasia, Decreased circulating free T4 level, I... |
OMIM:301035 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Short stature |
OMIM:615541 |
| Central Diabetes Insipidus |
|
Diabetes insipidus, Polydipsia, Failure to thrive, Weight loss, Lethargy |
ORPHA:178029 |
| Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... |
OMIM:614306 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter |
OMIM:180295 |
| Bullous Pemphigoid |
|
Weight loss, Diabetes mellitus |
ORPHA:703 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
| Pendred Syndrome |
|
Thyroid carcinoma, Goiter, Ataxia, Hyperparathyroidism, Hypothyroidism |
ORPHA:705 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Short stature, Polycystic ovaries, Hypergonadotropic hypogonadism, Obe... |
ORPHA:3085 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Short stature, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hy... |
OMIM:262600 |
| Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Failure to thrive, Decreased circulatin... |
OMIM:202200 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610489 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Weight loss, Ataxia, Oral aversion |
ORPHA:134 |
| Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Diabetes insipidus, Short stature, Failure to thrive, Abnormality of the hypothalam... |
ORPHA:95496 |
| Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
| Genetic Transient Congenital Hypothyroidism |
|
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... |
ORPHA:226316 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age, Lethargy |
ORPHA:391673 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Cryptorchidism, Precocious puberty |
OMIM:614736 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Growth delay, Small for gestational age, Short stature, Cryp... |
OMIM:307030 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... |
ORPHA:457059 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Dystonia, Hypoglycemia, Small for gestational age |
OMIM:614702 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:608612 |
| Igg4-Related Thyroid Disease |
|
Dysphagia, Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotox... |
ORPHA:64744 |
| Perry Syndrome |
|
Dystonia, Inappropriate behavior, Suicidal ideation, Weight loss, Apathy, Bradykinesia, Short ste... |
OMIM:168605 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia, Gait ataxia |
OMIM:612075 |
| Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Obesity, Hyperinsulinemia |
ORPHA:791 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Short stature, Failure to thrive, Aggressive behavior, Hyperactivity, Decreased response to growt... |
OMIM:615286 |
| Flynn-Aird Syndrome |
|
Cachexia, Type II diabetes mellitus, Primary adrenal insufficiency, Ataxia, Abnormality of the th... |
ORPHA:2047 |
| Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia |
ORPHA:681 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Short stature, Small for gestational age, Neonatal hypoglycemia, Postnatal growth r... |
ORPHA:231140 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance, Postnatal growth ... |
OMIM:248370 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Growth delay, Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:612716 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Short stature |
ORPHA:366 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... |
ORPHA:361 |
| Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Dysphagia, Impaired pain sensation, Chorea, Aggressive behavior, Hyperactivity, Inabili... |
ORPHA:500180 |
| X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Adrenal insufficiency, Aggressive behavior, Cognitive impairment, Ina... |
ORPHA:43 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Small for ... |
ORPHA:73272 |
| Moynahan Syndrome |
|
Hypogonadism, Cachexia, Short stature |
ORPHA:2574 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... |
ORPHA:263455 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Growth delay, Lethargy |
OMIM:274270 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis |
ORPHA:1672 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Congenital Hypothyroidism |
|
Goiter, Short stature, Hypogonadism, Abnormality of the thyroid gland, Anterior hypopituitarism, ... |
ORPHA:442 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased adiponecti... |
ORPHA:79085 |
| Galactokinase Deficiency |
|
Hypoglycemia, Small for gestational age, Failure to thrive, Premature ovarian insufficiency, Hype... |
ORPHA:79237 |
| Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Failure to thrive, Abno... |
ORPHA:556037 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypoglycemia, Growth delay, Failure to thrive |
ORPHA:163693 |
| Ck Syndrome |
|
Slender build, Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Ectopic thyroid, Congenital hypothyroidism, Growth delay, Thyroid hypoplasia, Hypothyroidism |
OMIM:225250 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Hyperactivity, A... |
ORPHA:363400 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder |
OMIM:301013 |
| Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Neoplasm of the thymus, Increased circulating cortisol level, Weight los... |
ORPHA:97289 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait, Unsteady gait |
OMIM:617865 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... |
OMIM:606069 |
| Young-Onset Parkinson Disease |
|
Dementia, Nausea, Cognitive impairment, Frontal lobe dementia, Apathy, Gastroparesis, Impulsivity... |
ORPHA:2828 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Postnatal growth retardation, Short stature |
OMIM:619489 |
| Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Failure to thrive, Abno... |
ORPHA:556030 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... |
OMIM:608189 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Abnormal eating behavior, Hyperactivity, Impulsivity, Anxiety |
ORPHA:101039 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Slender build, Ataxia |
OMIM:613662 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Growth delay, Failure to thrive, Increased circulating c... |
OMIM:610600 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity |
OMIM:617752 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Leptin Receptor Deficiency |
|
Short stature, Polyphagia, Aggressive behavior, Pituitary hypothyroidism, Abnormal eating behavio... |
OMIM:614963 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait disturbance, Dysphagia, Goiter, Failure to thrive, Glucose intolerance, Bradykinesia, Ataxia... |
ORPHA:254892 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
| Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy, Neoplasm of the thyroid gland, Short stature |
ORPHA:388 |
| Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Happy demeanor, Intrauterine growth retardation, ... |
OMIM:614104 |
| Ck Syndrome |
|
Slender build, Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Intrauterine growth retardation, Hypoglycemia, Failure to thrive, Cryptorchidism |
OMIM:618958 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:226307 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Late-Onset Isolated Acth Deficiency |
|
Lethargy, Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, Decreased circulating... |
ORPHA:199299 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Goiter |
ORPHA:83601 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Hypoglycemia, Growth delay, Hypogonadotropic hypogonadism, Pituitary hy... |
ORPHA:95619 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Hyperactivity, Impulsivity, Depression |
ORPHA:88616 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... |
ORPHA:1929 |
| Leprechaunism |
|
Severe intrauterine growth retardation, Central hypothyroidism, Fasting hypoglycemia, Insulin res... |
ORPHA:508 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus, Polydipsia |
ORPHA:95626 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... |
OMIM:167800 |
| Tenorio Syndrome |
|
Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Infantile Neuroaxonal Dystrophy |
|
Gait disturbance, Dystonia, Choking episodes, Hyperactivity, Ataxia, Emotional lability, Impulsiv... |
ORPHA:35069 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Short stature, Polyphagia, Hyperglycemia, Premature adrenarche, Polydipsi... |
ORPHA:293987 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice |
ORPHA:676 |
| Rett Syndrome |
|
Gait disturbance, Dystonia, Failure to thrive, Bradykinesia, Increased serum leptin, Inability to... |
ORPHA:778 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... |
ORPHA:94086 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxi... |
ORPHA:485350 |
| Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... |
ORPHA:652 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Aggressive behavior, Hyperactivity, Broad-based gait, Decreased body weight, Precocious puberty |
OMIM:300958 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, H... |
ORPHA:189439 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Annular pancreas, Hyperglycemia, Absent g... |
OMIM:615710 |
| Oculopharyngodistal Myopathy |
|
Weight loss, Impaired oropharyngeal swallow response, Loss of ability to walk, Oral-pharyngeal dy... |
ORPHA:98897 |
| Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity, Aggressive behavior, Intrauterine growth retardation |
ORPHA:369939 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Disinhibition, Abnormal social behavior, Memory impairment |
ORPHA:1020 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia, Diabetes insipidus, Hypogonadism, Ataxia |
ORPHA:97229 |
| Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Decreased re... |
OMIM:601853 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Hyperactivity, Emotional lability, Dysdiado... |
OMIM:610217 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Growth delay, Short stature, Failure to thrive, Delayed puberty |
ORPHA:369 |
| Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic single thyroid nodule, Weight loss, Thyrotoxicosis with toxic multinodu... |
ORPHA:79102 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... |
ORPHA:90673 |
| Oromandibular Dystonia |
|
Dysphagia, Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Generalized dystonia, ... |
ORPHA:93958 |
| Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:91347 |
| Alstrom Syndrome |
|
Diabetes insipidus, Short stature, Insulin-resistant diabetes mellitus, Multinodular goiter, Trun... |
OMIM:203800 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Weight loss, Cachexia, Type I diabetes mellitus |
ORPHA:1979 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Broad-based gait |
ORPHA:457260 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Growth delay, Short stature, Polyphagia, Self-injurious behavior, ... |
ORPHA:228402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature |
OMIM:300434 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
| Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter |
OMIM:618718 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Diabetes mellitus, Hypothyr... |
ORPHA:3198 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Dysphagia |
ORPHA:2198 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum lept... |
ORPHA:435660 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolera... |
ORPHA:163681 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Anxiety, Poor eye contact |
ORPHA:444002 |
| Citrullinemia Type Ii |
|
Hyperlipidemia, Decreased body mass index, Aggressive behavior, Abnormal eating behavior, Hyperch... |
ORPHA:247585 |
| Cowden Syndrome 5 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... |
OMIM:615108 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior, Short stature |
OMIM:300558 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Ectopic thyroid, Congenital hypothyroidism, Growth delay, Goiter, Thyroid hypoplasia, Elevated ci... |
OMIM:218700 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia |
ORPHA:2849 |
| Dopa-Responsive Dystonia |
|
Panic attack, Vomiting, Agoraphobia, Irritability, Emotional lability, Abnormal social behavior, ... |
ORPHA:255 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, Decreased adipon... |
ORPHA:435651 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Aplasia/Hypoplasia of the thymus |
ORPHA:33355 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Intrauterine growth retardation, Hypoglycemia |
OMIM:617156 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... |
ORPHA:90793 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Zollinger-Ellison Syndrome |
|
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... |
ORPHA:913 |
| Galactose Epimerase Deficiency |
|
Weight loss, Growth delay |
ORPHA:79238 |
| X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Short stature, Chorea, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Aredyld Syndrome |
|
Cachexia, Type II diabetes mellitus, Intrauterine growth retardation, Short stature, Type I diabe... |
ORPHA:1133 |
| Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ectopic thyroid, Growth delay, Thyroid hypoplasia, Failure to thrive, Severe short stature, Hypot... |
ORPHA:3047 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... |
OMIM:275200 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
| Renpenning Syndrome |
|
Cachexia, Growth delay, Severe short stature, Diabetes mellitus, Decreased testicular size |
ORPHA:3242 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyperinsulinemia, Hyperglycemia |
OMIM:151660 |
| Cowden Syndrome 6 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... |
OMIM:615109 |
| Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
| Addison Disease |
|
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hypoglycemia... |
ORPHA:85138 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Intrauterine growth retardation, Small for gestational age, Postnatal growth retard... |
ORPHA:397590 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
| Alazami-Yuan Syndrome |
|
Hyperactivity, Short stature |
OMIM:617126 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... |
ORPHA:168491 |
| Pyruvate Carboxylase Deficiency |
|
Dystonia, Hypoglycemia, Growth delay, Hyperglycemia, Failure to thrive, Ataxia, Tip-toe gait |
ORPHA:3008 |
| Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:98293 |
| Isaac Syndrome |
|
Weight loss |
ORPHA:84142 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Dysphagia, Weight loss, Inability to walk, Generalized dystonia, Tip-toe gait, ... |
ORPHA:216866 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Smith-Magenis Syndrome |
|
Short stature, Impaired pain sensation, Self-mutilation, Hypercholesterolemia, Hyperactivity, Hyp... |
OMIM:182290 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Short stature, Aggressive behavior, Hypogonadism, Hyperactivity, Abdominal obesity, ... |
OMIM:300354 |
| Carnitine Deficiency, Systemic Primary |
|
Hypoglycemia, Failure to thrive, Recurrent hypoglycemia, Impaired gluconeogenesis, Lethargy |
OMIM:212140 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Intrauterine growth retardation |
OMIM:615824 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, P... |
OMIM:162300 |
| Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Severe short stature, Delayed... |
ORPHA:633 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Short stature |
ORPHA:1144 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short stature, Self-injurious behavior, Aggressive behavior, Hyperactivity, Obesity, Pain insensi... |
OMIM:600430 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Atypical Werner Syndrome |
|
Ovarian neoplasm, Type II diabetes mellitus, Abnormality of circulating leptin level, Short statu... |
ORPHA:79474 |
| 13Q12.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Short stature, Impaired pain sensation, Failure to thrive, Self-... |
ORPHA:412035 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Pheochromocytoma, Increased circulating cortisol level, Medullary thyroid carcinoma, Hyperparathy... |
OMIM:171400 |
| Vipoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... |
ORPHA:97282 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
| Cowden Syndrome 1 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Ovarian carcinoma, Hypothyro... |
OMIM:158350 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration |
OMIM:610042 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypoglycemia, Short stature, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
| Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Happy demeanor, Gait imbalance, Inappropriate laughter, Abnormal eating behavior, Hype... |
ORPHA:98794 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Short stature, Insulin r... |
ORPHA:813 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia, Short stature |
OMIM:617302 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hy... |
ORPHA:71212 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Hyperthyroidism, Irritability, Diabe... |
ORPHA:449291 |
| Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Androgen insufficiency, Hypoglycemia, Failure to thrive,... |
ORPHA:95409 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Insulin resistance, Failure to thrive, Polycystic ovaries, Diabete... |
ORPHA:528 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysphagia, Dysmetria, Primary adrenal insufficiency, Hyperactivity, Inability t... |
ORPHA:139396 |
| Christianson Syndrome |
|
Dystonia, Cachexia, Dysphagia, Truncal ataxia, Gait ataxia |
ORPHA:85278 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss, Abnormal circulating aldosterone, Proportionate short ... |
ORPHA:171876 |
| Pallister-Hall Syndrome |
|
Intrauterine growth retardation, Short stature, Decreased testicular size, Adrenal hypoplasia, Pa... |
OMIM:146510 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Intrauterine growth retardation, Congenital hypothyroidism, Mild short stature, Hyperactivity, Di... |
OMIM:614613 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased ... |
ORPHA:85327 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Thyroid Ectopia |
|
Ectopic thyroid, Growth delay, Short stature, Hypothyroidism, Abnormality of the thyroid gland |
ORPHA:95712 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Gait imbalance, Short stature, Lethargy |
OMIM:618120 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Short Syndrome |
|
Weight loss, Severe short stature, Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
| Somatostatinoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... |
ORPHA:97283 |
| Poems Syndrome |
|
Weight loss, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadism, Ac... |
ORPHA:2905 |
| Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
| Chromosome 10Q26 Deletion Syndrome |
|
Short stature, Small for gestational age, Aggressive behavior, Hyperactivity, Postnatal growth re... |
OMIM:609625 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Small for gestational age, Short stature |
ORPHA:352490 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Severe postnatal growth retardation, Short stature |
ORPHA:440713 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hyperactivity, Aggressive behavior, Growth delay |
OMIM:616809 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia, Hypoglycemia, Lethargy |
ORPHA:42 |
| 16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Intrauterine growth retardation, Failure to thrive, Decreased response to growth ho... |
ORPHA:485405 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Growth delay, Polyphagia, Failure to thrive, Weight loss, Primary hypothy... |
ORPHA:95427 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Cachexia, Weight loss, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism |
ORPHA:298 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Celiac Disease, Susceptibility To, 1 |
|
Short stature, Failure to thrive, Weight loss, Ataxia, Thyroiditis, Postnatal growth retardation,... |
OMIM:212750 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus |
ORPHA:371428 |
| Potocki-Lupski Syndrome |
|
Short stature, Small for gestational age, Hypocholesterolemia, Failure to thrive, Hyperactivity, ... |
OMIM:610883 |
| Thyroid Hypoplasia |
|
Thyroid hypoplasia, Short stature, Growth delay, Hypothyroidism |
ORPHA:95720 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
| Thymic Carcinoma |
|
Weight loss, Neoplasm of the thymus |
ORPHA:99868 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... |
ORPHA:90794 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intrauterine growth retardation, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Glycosu... |
OMIM:600001 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
| Adenylosuccinase Deficiency |
|
Happy demeanor, Growth delay, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... |
OMIM:103050 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Growth delay, Self-biting, Aggressive behavior, Hypogonadism, Hyperactivity, Precocious puberty |
ORPHA:3306 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Hypoglycemia, Hyperactive renin-angiotensin system, Failure ... |
ORPHA:90790 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:618430 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia, Short stature |
ORPHA:2471 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Short stature |
ORPHA:391307 |
| Huntington Disease-Like 1 |
|
Gait disturbance, Dysmetria, Weight loss, Bradykinesia, Gait ataxia |
ORPHA:157941 |
| Cowden Syndrome |
|
Goiter, Short stature, Failure to thrive, Adenoma sebaceum, Neoplasm of the thyroid gland, Follic... |
ORPHA:201 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrho... |
ORPHA:79086 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Increased circulating cortisol level, Weight loss, Pulmonary carcinoid... |
ORPHA:97287 |
| Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Dementia, Emotional lability, Abnormal social behavior, Bo... |
ORPHA:309271 |
| Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Hypoglycemia, Adenoma sebaceum, Increased circulating cortisol level, Ins... |
OMIM:131100 |
| Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... |
OMIM:160980 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Lethargy |
OMIM:143880 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
| Wiedemann-Steiner Syndrome |
|
Dysphagia, Intrauterine growth retardation, Short stature, Failure to thrive, Aggressive behavior... |
ORPHA:319182 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
| Cri-Du-Chat Syndrome |
|
Growth delay, Small for gestational age, Aggressive behavior, Conspicuously happy disposition, Se... |
OMIM:123450 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Whipple Disease |
|
Cachexia, Polydipsia, Insulin resistance, Ataxia, Hypothyroidism |
ORPHA:3452 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Hypoglycemia, Lethargy |
OMIM:210200 |
| Angelman Syndrome |
|
Precocious puberty in females, Dysphagia, Happy demeanor, Polyphagia, Self-injurious behavior, Ob... |
ORPHA:72 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... |
ORPHA:1942 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Short stature, Po... |
OMIM:176270 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Ataxia, Hypothyroidism, Cryptorchidism |
OMIM:617575 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Short stature |
OMIM:618027 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Dystonia, Cachexia, Arm dystonia, Dysphagia, Axial dystonia, Oromandibular dystonia, Retrocollis,... |
ORPHA:300605 |
| Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
| Wolman Disease |
|
Growth delay, Adrenal insufficiency, Cachexia, Adrenal calcification |
ORPHA:75233 |
| Hsd10 Disease |
|
Abnormal social behavior, Dysphagia |
ORPHA:391417 |
| Glucagonoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... |
ORPHA:97280 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Postnatal growth re... |
ORPHA:2457 |
| Ppoma |
|
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... |
ORPHA:97278 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Familial Pancreatic Carcinoma |
|
Weight loss, Ovarian carcinoma, Diabetes mellitus, Pancreatic adenocarcinoma |
ORPHA:1333 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Growth delay, Bile duct proliferation, Postnatal growth retar... |
OMIM:613027 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dementia, Dystonia, Dysphagia, Choreoathetosis, Bradykinesia, Blepharospasm, Hy... |
OMIM:234200 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Hyperglycemia, Hypothyroidism, Obesity, Decreased response to growth hormone stimu... |
ORPHA:444077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short stature, Failure to thrive, Aggressive behavior, Shuffling gait, Hyperactivity, Decreased b... |
OMIM:300534 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating follicle stimulating hormone level, Short stature, Failure to thrive, Absenc... |
ORPHA:90796 |
| Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ |
OMIM:616858 |
| Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia, Paraganglioma |
ORPHA:97286 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Weight loss, Growth delay, Lethargy |
ORPHA:79242 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss, Rhizomelia, Severe short-limb dwarfism |
ORPHA:1842 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Weight loss, Proportionate short stature, Severe short stature, ... |
ORPHA:3208 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... |
ORPHA:2388 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Weight loss, Paraganglioma |
ORPHA:94080 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Dysphagia, Hyperinsulinemia, Insulin resistance |
OMIM:613327 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Self-biting, Failure to thrive, Aggressive behavior, Bulimia, Hyperactivi... |
OMIM:300912 |
| Lynch Syndrome |
|
Gait disturbance, Ovarian neoplasm, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the pancr... |
ORPHA:144 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Weight loss |
ORPHA:514 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Familial Colorectal Cancer Type X |
|
Gait disturbance, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the pancreas, Neoplasm of t... |
ORPHA:440437 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
| Intellectual Disability-Strabismus Syndrome |
|
Gait disturbance, Intrauterine growth retardation, Decreased serum insulin-like growth factor 1, ... |
ORPHA:363528 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... |
ORPHA:95699 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Hypoglycemia, Short stature, Failure to thrive, Hypothyroidism |
OMIM:618005 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decreased circulat... |
ORPHA:91355 |
| Fatal Familial Insomnia |
|
Ataxia, Weight loss, Dysphagia |
OMIM:600072 |
| Grfoma |
|
